ClinVar Miner

List of variants reported as likely pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13033
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_001382273.1(TNK2):c.2675G>A (p.Arg892His) rs112384084 0.01127
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00331
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln) rs61734270 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val) rs137939966 0.00086
NM_017553.3(INO80):c.3737G>A (p.Arg1246Gln) rs199722402 0.00086
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_001370259.2(MEN1):c.*470A>G rs778272737 0.00048
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929 0.00023
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val) rs149331610 0.00022
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg) rs778445616 0.00014
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val) rs150539474 0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp) rs150566697 0.00010
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys) rs148775220 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_001382391.1(CSPP1):c.2128+1G>A rs199791452 0.00009
NM_002979.5(SCP2):c.825+1G>T rs144132787 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) rs199583537 0.00008
NM_004562.3(PRKN):c.2T>C (p.Met1Thr) rs771586218 0.00008
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln) rs142405016 0.00008
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) rs149595793 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_138383.3(MTSS2):c.1790C>T (p.Thr597Met) rs531163149 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly) rs139719918 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) rs796052256 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004855.5(PIGB):c.463G>C (p.Asp155His) rs372158001 0.00006
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter) rs201793200 0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) rs150848976 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr) rs546737191 0.00006
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) rs192419029 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) rs201573515 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152743.4(BRAT1):c.283-2A>T rs147005619 0.00006
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg) rs374060287 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg) rs778305273 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met) rs773936260 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_018129.4(PNPO):c.413G>A (p.Arg138His) rs764940495 0.00005
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro) rs145372387 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys) rs1451259945 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr) rs749266717 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 0.00004
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter) rs371560438 0.00004
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp) rs373270554 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_017553.3(INO80):c.1501T>C (p.Ser501Pro) rs730882226 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) rs201230582 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_024818.6(UBA5):c.215G>A (p.Arg72His) rs150313260 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) rs1057524499 0.00003
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000311.5(PRNP):c.635A>C (p.Gln212Pro) rs751882709 0.00003
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000484.4(APP):c.2125G>A (p.Gly709Ser) rs201269325 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000702.4(ATP1A2):c.2563+2T>C rs775008062 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_001042432.2(CLN3):c.295-2A>C rs1478660606 0.00003
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) rs764659822 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter) rs779260568 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001370259.2(MEN1):c.*412G>A rs972128957 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001372.4(DNAH9):c.5651G>C (p.Gly1884Ala) rs577054880 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln) rs770016586 0.00003
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003477.2(PDHX):c.-197delT rs1158194122 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe) rs752452731 0.00003
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp) rs756611519 0.00003
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_006859.4(LIAS):c.737+1G>A rs546751789 0.00003
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843 0.00003
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter) rs904572688 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014875.3(KIF14):c.3661+1G>T rs151249558 0.00003
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018075.5(ANO10):c.139+1G>T rs777450156 0.00003
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) rs776248931 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter) rs370121773 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) rs374645146 0.00003
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met) rs763632781 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) rs727504706 0.00003
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu) rs757914897 0.00003
NM_182961.4(SYNE1):c.17682+1G>A rs1064796579 0.00003
NM_182961.4(SYNE1):c.24129+2T>C rs544985182 0.00003
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu) rs1204814114 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) rs121909272 0.00002
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg) rs746019841 0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr) rs374549180 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000370.3(TTPA):c.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val) rs550705310 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) rs1352786910 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln) rs747238010 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val) rs774281185 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His) rs386833695 0.00002
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) rs375876694 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys) rs542184779 0.00002
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser) rs747105829 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055 0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001367561.1(DOCK7):c.4380-1G>T rs774949595 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu) rs561330579 0.00002
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr) rs368138282 0.00002
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val) rs770249022 0.00002
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp) rs113094436 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_005861.4(STUB1):c.778dup (p.His260fs) rs780883873 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His) rs764884402 0.00002
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_012216.4(MID2):c.1432C>T (p.Arg478Ter) rs200917006 0.00002
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685 0.00002
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_015378.4(VPS13D):c.941+3A>G rs372431023 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys) rs765097897 0.00002
NM_018941.4(CLN8):c.543+1G>T rs756267448 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020702.5(MYORG):c.103A>G (p.Met35Val) rs765483979 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter) rs757834403 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys) rs761934754 0.00002
NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln) rs777276705 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) rs576405108 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_032656.4(DHX37):c.2191G>A (p.Val731Met) rs754186165 0.00002
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr) rs758546717 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
NC_000005.9:g.118829592G>T rs368744809 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) rs113879010 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs) rs766004699 0.00001
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp) rs74315443 0.00001
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter) rs386833439 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.684+1G>T rs780025714 0.00001
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe) rs868591897 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn) rs151163582 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.2052+1G>C rs765906340 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp) rs1817625926 0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter) rs373618804 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe) rs763075374 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln) rs1452327155 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly) rs1288008254 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.714-2A>G rs1170385434 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser) rs1292183482 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2806+1G>A rs751900826 0.00001
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val) rs771947200 0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 0.00001
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp) rs143657539 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000311.5(PRNP):c.443G>A (p.Arg148His) rs181348299 0.00001
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) rs1224562361 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000345.4(SNCA):c.44T>C (p.Val15Ala) rs1739238968 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821 0.00001
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648 0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885 0.00001
NM_000391.4(TPP1):c.1551+1G>C rs786204553 0.00001
NM_000391.4(TPP1):c.1552-1G>A rs1057516511 0.00001
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) rs121908195 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000414.4(HSD17B4):c.58+1G>T rs1260517680 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) rs1408895107 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2583+1G>T rs771586413 0.00001
NM_000466.3(PEX1):c.2719-1G>A rs1791673946 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) rs1484321655 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000481.4(AMT):c.339+1G>A rs1575308129 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000481.4(AMT):c.996dup (p.His333fs) rs2049025668 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter) rs1749739842 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1508+1G>A rs758459585 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) rs762821794 0.00001
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter) rs1749130074 0.00001
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) rs1453919511 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys) rs765818392 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu) rs1382260409 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu) rs1048241141 0.00001
NM_000784.4(CYP27A1):c.1017+1G>A rs1943742261 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 0.00001
NM_001003787.4(STRADA):c.36+1G>A rs1185962534 0.00001
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln) rs1045177462 0.00001
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu) rs745561217 0.00001
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) rs1163046936 0.00001
NM_001042432.2(CLN3):c.1198-1G>T rs386833702 0.00001
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703 0.00001
NM_001042432.2(CLN3):c.125+5G>A rs386833704 0.00001
NM_001042432.2(CLN3):c.1A>G (p.Met1Val) rs386833708 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_001042432.2(CLN3):c.461-1G>T rs386833722 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro) rs386833723 0.00001
NM_001042432.2(CLN3):c.622dup (p.Ser208fs) rs386833736 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.906+2T>A rs771788391 0.00001
NM_001042432.2(CLN3):c.963-1G>A rs386833742 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) rs369691608 0.00001
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys) rs956104232 0.00001
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val) rs1485166517 0.00001
NM_001127178.3(PIGG):c.1332+1G>A rs779043705 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs) rs779219028 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) rs1194329020 0.00001
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val) rs759121197 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) rs767045134 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) rs748816300 0.00001
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg) rs1248613652 0.00001
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) rs121918738 0.00001
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) rs922514173 0.00001
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr) rs1689707865 0.00001
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn) rs528239871 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly) rs762927460 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) rs780233639 0.00001
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg) rs780870758 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001242896.3(DEPDC5):c.695-1G>T rs1265464096 0.00001
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp) rs387907259 0.00001
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys) rs672601365 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) rs763252801 0.00001
NM_001257180.2(SLC20A2):c.1794+1G>C rs1052304545 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001365536.1(SCN9A):c.2517+1G>C rs560913943 0.00001
NM_001365536.1(SCN9A):c.258+1G>A rs755067851 0.00001
NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile) rs121908913 0.00001
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.5396G>A (p.Trp1799Ter) rs1306143550 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter) rs1419019482 0.00001
NM_001367561.1(DOCK7):c.819-1G>A rs763358033 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val) rs1021186046 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) rs864321622 0.00001
NM_001376.5(DYNC1H1):c.1411C>T (p.Arg471Cys) rs2047892380 0.00001
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp) rs2093873570 0.00001
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu) rs1443276640 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr) rs368581522 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095 0.00001
NM_001382391.1(CSPP1):c.1497-2A>C rs766633448 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) rs1171996547 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) rs760855321 0.00001
NM_001482.3(GATM):c.778C>T (p.Arg260Ter) rs775933965 0.00001
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) rs1877889898 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr) rs1490454929 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002617.4(PEX10):c.776+2T>C rs1335685844 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro) rs774610098 0.00001
NM_002693.3(POLG):c.1433+2T>C rs920850257 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr) rs935602068 0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys) rs56047213 0.00001
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp) rs755725702 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002857.4(PEX19):c.346+1G>A rs75072667 0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NM_003179.3(SYP):c.2T>C (p.Met1Thr) rs1557103814 0.00001
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter) rs141396971 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala) rs756023441 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003491.4(NAA10):c.469G>A (p.Glu157Lys) rs1557107264 0.00001
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) rs1403125636 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) rs1582940678 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003640.5(ELP1):c.1361-1G>T rs372225464 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 0.00001
NM_003774.5(GALNT4):c.1194C>T (p.Asn398=) rs863223348 0.00001
NM_003793.4(CTSF):c.1045+1G>T rs1456291681 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) rs777937235 0.00001
NM_004035.7(ACOX1):c.538+1G>A rs1466419887 0.00001
NM_004035.7(ACOX1):c.658+1G>T rs779732414 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys) rs766653950 0.00001
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004483.5(GCSH):c.1A>G (p.Met1Val) rs886039730 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp) rs1064794320 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly) rs2037067131 0.00001
NM_005045.4(RELN):c.3912+2T>G rs1226957030 0.00001
NM_005045.4(RELN):c.7349+2T>C rs982831716 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005076.5(CNTN2):c.2432-2A>G rs1196223064 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005149.3(TBX19):c.206G>A (p.Arg69Gln) rs1310982370 0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met) rs748717639 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005506.4(SCARB2):c.994+2T>C rs1168653552 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) rs1297603674 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_006030.4(CACNA2D2):c.2234+1G>A rs749539763 0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser) rs104894173 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006261.5(PROP1):c.110-2A>G rs1057516846 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459 0.00001
NM_006392.4(NOP56):c.909G>A (p.Ala303=) rs1295942947 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn) rs750256116 0.00001
NM_006586.5(CNPY3):c.734_737del (p.Gln245fs) rs1197219692 0.00001
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_006859.4(LIAS):c.954+1G>A rs965952835 0.00001
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp) rs1207850001 0.00001
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp) rs780269723 0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) rs1472900688 0.00001
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) rs183018401 0.00001
NM_007327.4(GRIN1):c.1198-2del rs1212517874 0.00001
NM_012062.5(DNM1L):c.1596+2T>A rs769684495 0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972 0.00001
NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser) rs61751035 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) rs121434440 0.00001
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys) rs1442079596 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014906.5(PPM1E):c.*1892T>A rs1567903706 0.00001
NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn) rs748809996 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg) rs183776349 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) rs1289520784 0.00001
NM_015166.4(MLC1):c.251G>A (p.Arg84His) rs1425784992 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.754dup (p.Cys252fs) rs757250956 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln) rs1057519564 0.00001
NM_015213.4(DENND5A):c.949+1G>A rs1849592470 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) rs386834004 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter) rs200870836 0.00001
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) rs2011567269 0.00001
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) rs2011469389 0.00001
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter) rs758368974 0.00001
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly) rs781200968 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs) rs774562545 0.00001
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) rs1562848556 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter) rs1164484724 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_016529.6(ATP8A2):c.3272+1G>A rs779337270 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_017721.5(CC2D1A):c.511_513+1del rs777057767 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.199-2A>G rs1471253353 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) rs143781303 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.84-1G>A rs1064796787 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018129.4(PNPO):c.284G>A (p.Arg95His) rs552833222 0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) rs104894629 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter) rs1662320308 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe) rs368561457 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter) rs759830733 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.509C>T (p.Thr170Met) rs188259026 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.611G>A (p.Arg204His) rs386834134 0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) rs746645358 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr) rs1313637057 0.00001
NM_019023.5(PRMT7):c.1323+2T>G rs1339009950 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter) rs148074630 0.00001
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) rs775807509 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) rs1239725461 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser) rs779203584 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.1845+1G>A rs2076970587 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022124.6(CDH23):c.1752+1G>A rs1347367555 0.00001
NM_022124.6(CDH23):c.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter) rs1375264465 0.00001
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 0.00001
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) rs780424781 0.00001
NM_022786.3(ARV1):c.175-2A>G rs1294383261 0.00001
NM_022786.3(ARV1):c.363_364del (p.Ser122fs) rs769858809 0.00001
NM_024072.4(DDX54):c.58T>A (p.Trp20Arg) rs774035439 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_024818.6(UBA5):c.684G>A (p.Ala228=) rs1313071575 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723 0.00001
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp) rs483353023 0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642 0.00001
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser) rs757560169 0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala) rs782072593 0.00001
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) rs1424699115 0.00001
NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met) rs1277857720 0.00001
NM_032756.4(HPDL):c.788C>T (p.Thr263Met) rs116004018 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala) rs770053224 0.00001
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro) rs1565312540 0.00001
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042 0.00001
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) rs945627261 0.00001
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4745+1G>A rs1469729130 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter) rs148275050 0.00001
NM_152701.5(ABCA13):c.11473+2T>C rs797045205 0.00001
NM_152722.5(HEPACAM):c.803+1G>A rs375712202 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp) rs750770298 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val) rs863224851 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) rs746055240 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
NM_182961.4(SYNE1):c.12528+1G>A rs1012514808 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_182961.4(SYNE1):c.6723+1G>C rs779302145 0.00001
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) rs780991031 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) rs769144119 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.631+1254C>T rs886645578 0.00001
NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter) rs1761617556 0.00001
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) rs750743855 0.00001
NM_203446.3(SYNJ1):c.1201-2A>G rs1569086116 0.00001
10q21.3duplication
16q24.1duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
46;XX;t(10;14)(p13;q21)dn
46;XX;t(1;19)(p34.1;p13.1)dn
46;XX;t(1;5)(p31;q33)dn
46;XY;inv(14)(q13q24.1)
46;XY;inv(7)(p15q34)mat
46;XY;t(1;12)(p32;p13)dn
46;XY;t(2;14)(p22;q24.3)dn
46;XY;t(5;7)(q14.3;q21.3)dn
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
9q21.13 deletion
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 16p13.11(chr16:14927857-16537664)
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
GRCh37/hg19 20q13.33(chr20:61038552-62907579)
GRCh37/hg19 20q13.33(chr20:61041481-62680992)
GRCh37/hg19 20q13.33(chr20:61273854-62907579)
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
GRCh37/hg19 20q13.33(chr20:61944468-62104030)
GRCh37/hg19 20q13.33(chr20:61974574-62078190)
GRCh37/hg19 20q13.33(chr20:61974574-62129187)
GRCh37/hg19 20q13.33(chr20:61986847-62055559)
GRCh37/hg19 20q13.33(chr20:61986847-62224435)
GRCh37/hg19 20q13.33(chr20:62069977-62129187)
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3
GRCh37/hg19 4q31.23(chr4:148911418-149103259)
GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
GRCh37/hg19 Xp22.11-21.3(chrX:24823572-25117528)x2
GRCh37/hg19 Xq24(chrX:118544103-118676607)x0
GRCh37/hg19 Xq24(chrX:119660616-119681095)x1
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)
GRCh37/hg19 Xq28(chrX:148882560-149686856)x2
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
GRCh38/hg38 17p13.3(chr17:2500691-2687314)
GRCh38/hg38 2p16.3(chr2:50590007-50802034)
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
GRCh38/hg38 5q23.1(chr5:119555413-119745470)
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
GRCh38/hg38 Xq12(chrX:68203479-68224263)x2
GRCh38/hg38 Xq28(chrX:152819425-152869723)
Multiple alleles
NC_000001.10:g.(?_206516175)_(206567055_?)dup
NC_000001.10:g.(?_206579711)_(206634815_?)dup
NC_000001.10:g.(?_20974682)_(20975609_?)del
NC_000001.10:g.(?_2337205)_(2338414_?)del
NC_000001.10:g.(?_245025750)_(245027576_?)del
NC_000001.10:g.(?_44257753)_(44365419_?)dup
NC_000001.10:g.(?_44360035)_(44482805_?)del
NC_000001.10:g.155183259_(155210558_155210826)del
NC_000001.11:g.(?_103175204)_(111410059_?)del
NC_000001.11:g.(?_109048899)_(109079629_?)del
NC_000001.11:g.(?_145601945)_(146048346_?)del
NC_000001.11:g.(?_204033173)_(208209798_?)del
NC_000001.11:g.(?_231740970)_(231949671_?)del
NC_000001.11:g.(?_7969325)_(7969424_?)del
NC_000001.11:g.153812287_153823987del
NC_000002.11:g.(228560798_228563451)_228563704del
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
NC_000002.11:g.(?_149267619)_(149267714_?)dup
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NC_000002.11:g.(?_166210682)_(166211201_?)del
NC_000002.11:g.(?_166237239)_(166239066_?)del
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_166847976)_(166851014_?)del
NC_000002.11:g.(?_167055131)_(167168316_?)dup
NC_000002.11:g.(?_167119087)_(167129240_?)del
NC_000002.11:g.(?_200213424)_(200246543_?)dup
NC_000002.11:g.(?_200320572)_(200320780_?)dup
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000002.12:g.(?_106445028)_(107839483_?)del
NC_000002.12:g.(?_11177745)_(16113827_?)del
NC_000002.12:g.(?_115503140)_(115527426_?)del
NC_000002.12:g.(?_130725519)_(131168548_?)del
NC_000002.12:g.(?_165342276)_(165389844_?)del
NC_000002.12:g.(?_177895779)_(177946731_?)del
NC_000002.12:g.(?_184830819)_(184884225_?)del
NC_000002.12:g.(?_1852302)_(2191394_?)dup
NC_000002.12:g.(?_196588283)_(196600831_?)del
NC_000002.12:g.(?_199380344)_(199433534_?)dup
NC_000002.12:g.(?_205102232)_(205198713_?)del
NC_000002.12:g.(?_205264941)_(205497509_?)del
NC_000002.12:g.(?_235927172)_(236034017_?)del
NC_000002.12:g.(?_32528746)_(32559427_?)del
NC_000002.12:g.(?_96063558)_(97079140_?)del
NC_000003.11:g.(132438675_132440806)_132441126del
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NC_000003.11:g.93714775_(93722753_93754174)del
NC_000003.12:g.(?_1133359)_(1192637_?)del
NC_000003.12:g.(?_1185337)_(1255844_?)del
NC_000003.12:g.(?_1204527)_(1310468_?)del
NC_000003.12:g.(?_1247669)_(1285156_?)del
NC_000003.12:g.(?_1264992)_(1295956_?)del
NC_000003.12:g.(?_187222939)_(194312782_?)del
NC_000003.12:g.(?_188343948)_(188435451_?)del
NC_000003.12:g.(?_188420063)_(188540464_?)del
NC_000003.12:g.(?_41609544)_(41811095_?)del
NC_000003.12:g.(?_41760954)_(41858293_?)del
NC_000003.12:g.(?_41803875)_(41849829_?)del
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NC_000003.12:g.(?_60389119)_(60571624_?)del
NC_000003.12:g.(?_60408194)_(60672864_?)del
NC_000003.12:g.(?_60438915)_(60817364_?)del
NC_000003.12:g.(?_60501297)_(60591815_?)del
NC_000003.12:g.87310484C>T rs606231411
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
NC_000004.11:g.(128878748_128886226)_(128887140_?)del
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
NC_000004.12:g.(?_148159332)_(148473475_?)del
NC_000004.12:g.(?_92590068)_(92732357_?)del
NC_000004.12:g.(?_92930845)_(93092974_?)del
NC_000005.10:g.(?_11567352)_(11629138_?)del
NC_000005.10:g.(?_119514971)_(119542004_?)del
NC_000005.10:g.(?_131428263)_(132208822_?)del
NC_000005.10:g.(?_162142144)_(162153388_?)del
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
NC_000005.9:g.(?_125880657)_(125882101_?)del
NC_000005.9:g.(?_125881996)_(125882111_?)dup
NC_000005.9:g.(?_125896755)_(125896836_?)del
NC_000005.9:g.(?_125904022)_(125905143_?)del
NC_000005.9:g.(?_161292707)_(161495132_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)dup
NC_000005.9:g.(?_73992508)_(73992941_?)dup
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000006.11:g.(?_137191125)_(137199715_?)del
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000006.11:g.(?_33393555)_(33393700_?)dup
NC_000006.11:g.(?_42931601)_(42937735_?)del
NC_000006.12:g.(?_161816395)_(162018868_?)del
NC_000006.12:g.(?_161933685)_(162059574_?)del
NC_000006.12:g.(?_161966350)_(162292493_?)del
NC_000006.12:g.(?_161982200)_(162323320_?)del
NC_000006.12:g.(?_162035873)_(162195188_?)del
NC_000006.12:g.(?_162036131)_(162191715_?)del
NC_000006.12:g.(?_162088360)_(162527858_?)del
NC_000006.12:g.(?_162144053)_(162229459_?)del
NC_000006.12:g.(?_162145541)_(162226576_?)del
NC_000006.12:g.(?_162151583)_(162270607_?)del
NC_000006.12:g.(?_162162293)_(162311859_?)del
NC_000006.12:g.(?_162166123)_(162288233_?)del
NC_000006.12:g.(?_162184117)_(162211182_?)del
NC_000006.12:g.(?_162194743)_(162324250_?)del
NC_000006.12:g.(?_162200873)_(162544554_?)del
NC_000006.12:g.(?_162222675)_(162297617_?)del
NC_000006.12:g.(?_162229459)_(162495982_?)del
NC_000006.12:g.(?_162265361)_(162429333_?)del
NC_000006.12:g.(?_162267721)_(162302278_?)del
NC_000006.12:g.(?_162290852)_(162564693_?)del
NC_000006.12:g.(?_162308970)_(162630627_?)del
NC_000006.12:g.(?_162332720)_(162499424_?)del
NC_000006.12:g.(?_162349019)_(162495982_?)del
NC_000006.12:g.(?_162411708)_(162476625_?)del
NC_000006.12:g.(?_162440726)_(162603304_?)del
NC_000006.12:g.(?_162609404)_(162813090_?)del
NC_000006.12:g.(?_57046622)_(57088889_?)del
NC_000006.12:g.(?_57046622)_(57092420_?)del
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NC_000007.14:g.(?_103491380)_(103507508_?)del
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000007.14:g.(?_111777402)_(111865491_?)del
NC_000007.14:g.(?_146655407)_(146796363_?)del
NC_000007.14:g.(?_152454659)_(158705768_?)del
NC_000007.14:g.(?_153822158)_(153968005_?)del
NC_000007.14:g.(?_81478831)_(84097791_?)del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.10:g.(?_42275320)_(42297172_42302163)del
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NC_000008.11:g.(?_10252025)_(10336231_?)del
NC_000008.11:g.(?_1050516)_(1327901_?)del
NC_000008.11:g.(?_132180137)_(132186201_?)dup
NC_000008.11:g.(?_140417391)_(140444832_?)del
NC_000008.11:g.(?_2724493)_(4921893_?)del
NC_000008.11:g.(?_3873130)_(3959547_?)del
NC_000008.11:g.(?_3876145)_(3961401_?)del
NC_000008.11:g.(?_3876145)_(3967152_?)del
NC_000008.11:g.(?_3877806)_(3959547_?)del
NC_000008.11:g.(?_3914469)_(4157437_?)del
NC_000008.11:g.(?_4410048)_(4458635_?)del
NC_000008.11:g.(?_99047163)_(99227439_?)del
NC_000008.11:g.(?_99118484)_(99159135_?)del
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
NC_000008.11:g.(?_9998540)_(10117911_?)del
NC_000009.11:g.(?_6550793)_(6550924_?)dup
NC_000009.11:g.(?_6550793)_(6558694_?)dup
NC_000009.11:g.(?_6558564)_(6559850_?)del
NC_000009.11:g.(?_6587131)_(6595129_?)dup
NC_000009.11:g.(?_6602089)_(6604804_?)del
NC_000009.12:g.(?_10000)_(400952_?)del
NC_000009.12:g.(?_116611967)_(116683530_?)del
NC_000009.12:g.(?_116634744)_(116742416_?)del
NC_000009.12:g.(?_116683530)_(116733612_?)del
NC_000009.12:g.(?_116683530)_(116876208_?)del
NC_000009.12:g.(?_127672031)_(127676773_?)del
NC_000009.12:g.(?_127678411)_(127690877_?)del
NC_000009.12:g.(?_6533007)_(6550924_?)del
NC_000009.12:g.(?_6558539)_(6558704_?)del
NC_000010.10:g.(?_104352329)_(104377195_?)dup
NC_000010.10:g.(?_78943159)_(78944694_?)dup
NC_000010.10:g.(?_78998319)_(79163801_?)dup
NC_000010.10:g.(?_95549836)_(95549947_?)del
NC_000010.11:g.(?_53976705)_(54036062_?)del
NC_000010.11:g.(?_54690788)_(54898513_?)del
NC_000010.11:g.(?_59792917)_(68231677_?)del
NC_000011.10:g.(?_31405793)_(31548667_?)del
NC_000011.10:g.(?_84114371)_(84650078_?)del
NC_000011.10:g.(?_84405313)_(84547789_?)del
NC_000011.10:g.(?_84809995)_(84986152_?)del
NC_000011.10:g.(?_84877230)_(84963429_?)del
NC_000011.10:g.(?_96535656)_(99184810_?)del
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
NC_000012.11:g.52199766_52388207del
NC_000012.12:g.(?_2687956)_(2741851_?)del
NC_000012.12:g.(?_28125337)_(28231096_?)del
NC_000013.11:g.(?_22968338)_(24323208_?)del
NC_000013.11:g.(?_35011654)_(35113567_?)del
NC_000013.11:g.(?_35060502)_(35507109_?)del
NC_000013.11:g.(?_76995053)_(76995238_?)dup
NC_000013.11:g.(?_87545067)_(87934031_?)del
NC_000013.11:g.76992041_76992352del rs2154034211
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_33318664)_(33378429_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000015.10:g.(?_28821222)_(30470957_?)del
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
NC_000015.9:g.(?_30941572)_(32509926_?)del
NC_000015.9:g.(?_68500458)_(68504221_?)del
NC_000015.9:g.(?_68500468)_(68504211_?)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72640007)_(72641620_?)dup
NC_000015.9:g.(?_93547827)_(93558159_?)dup
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.10:g.(?_21928119)_(22428075_?)del
NC_000016.10:g.(?_29390980)_(30215610_?)dup
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)dup
NC_000016.10:g.(?_29602174)_(30178709_?)dup
NC_000016.10:g.(?_29685652)_(30180586_?)dup
NC_000016.10:g.(?_29824300)_(29826034_?)del
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.(?_6316970)_(6317082_?)del
NC_000016.10:g.(?_6355716)_(6937802_?)del
NC_000016.10:g.(?_6360351)_(6582207_?)del
NC_000016.10:g.(?_6622570)_(6720408_?)del
NC_000016.10:g.(?_6631947)_(7029167_?)del
NC_000016.10:g.(?_6654578)_(6654675_?)del
NC_000016.10:g.(?_6759006)_(6789572_?)del
NC_000016.10:g.(?_6773909)_(6978067_?)del
NC_000016.10:g.(?_7029167)_(7099643_?)del
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.10:g.(?_79103200)_(79402155_?)del
NC_000016.10:g.(?_84593050)_(85516675_?)del
NC_000016.9:g.(180591_188148)_(188672_?)del
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
NC_000016.9:g.(?_138677)_(188266_?)dup
NC_000016.9:g.(?_139774)_(159866_?)del
NC_000016.9:g.(?_148123)_(169274_?)dup
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3829526)_(3830870_?)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000016.9:g.(?_78148926)_(78166880_?)del
NC_000016.9:g.(?_78458747)_(78466669_?)dup
NC_000016.9:g.78159969_78320350del
NC_000017.10:g.(?_73944322)_(73944548_?)del
NC_000017.10:g.57075470_57235248del159779
NC_000017.11:g.(?_14178908)_(15518547_?)del
NC_000017.11:g.(?_14183541)_(15573247_?)del
NC_000017.11:g.(?_75946738)_(75957576_?)del
NC_000017.11:g.(?_75960205)_(75960385_?)dup
NC_000017.11:g.59664787del rs1598226304
NC_000017.11:g.59679324_59702065del
NC_000018.10:g.(?_10000)_(1543845_?)del
NC_000018.10:g.(?_47026162)_(47075742_?)del
NC_000018.10:g.(?_7773472)_(8250054_?)del
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.10:g.(?_17607118)_(17624457_?)del
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NC_000020.10:g.(?_62050952)_(62078210_?)del
NC_000020.10:g.(?_62062673)_(62065276_?)dup
NC_000020.10:g.(?_62069958)_(62070093_?)del
NC_000020.10:g.(?_62069958)_(62078210_?)dup
NC_000020.11:g.(?_14490624)_(14573076_?)del
NC_000020.11:g.(?_14631584)_(14707775_?)del
NC_000020.11:g.(?_14656734)_(14876708_?)del
NC_000020.11:g.(?_15307783)_(15453889_?)del
NC_000020.11:g.(?_25564868)_(25611357_?)del
NC_000020.11:g.(?_42232174)_(42274201_?)del
NC_000020.11:g.(?_42303583)_(42488707_?)del
NC_000020.11:g.(?_42461895)_(42648116_?)del
NC_000020.11:g.(?_42472130)_(42562200_?)del
NC_000020.11:g.(?_42526267)_(42726111_?)del
NC_000020.11:g.(?_42579501)_(42691367_?)del
NC_000020.11:g.(?_508451)_(508551_?)del
NC_000020.11:g.(?_63406624)_(63407395_?)del
NC_000021.8:g.(?_34029319)_(34031816_?)del
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000021.8:g.(?_38868400)_(38884854_?)del
NC_000021.9:g.(?_37492997)_(37493183_?)del
NC_000021.9:g.(?_38981673)_(41568791_?)del
NC_000021.9:g.33542069_33544417del
NC_000022.10:g.(?_32156622)_(32162674_?)dup
NC_000022.10:g.(?_32179873)_(32266750_?)dup
NC_000022.10:g.(?_32210968)_(32211208_?)dup
NC_000022.10:g.(?_32217594)_(32219450_?)del
NC_000022.10:g.(?_32226416)_(32233136_?)del
NC_000022.10:g.(?_32253411)_(32275758_?)dup
NC_000022.10:g.32217598_(32218777_32229900)del
NC_000022.11:g.(?_20346735)_(21149007_?)del
NC_000022.11:g.(?_20346735)_(21277123_?)del
NC_000022.11:g.(?_20358985)_(21123588_?)del
NC_000022.11:g.(?_21956007)_(22224188_?)del
NC_000022.11:g.(?_21959229)_(22218520_?)del
NC_000022.11:g.(?_22638171)_(23320336_?)del
NC_000022.11:g.(?_31778079)_(31792837_?)del
NC_000022.11:g.(?_31901722)_(31901822_?)del
NC_000022.11:g.(?_32200123)_(32200234_?)del
NC_000023.10:g.(152882907_152991027)del
NC_000023.10:g.(152886255_152976269)del
NC_000023.10:g.(152982350_153041544)del
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NC_000023.10:g.(?_153002694)_153020558del
NC_000023.10:g.(?_18582577)_(18627710_?)dup
NC_000023.10:g.(?_18582577)_(18631415_?)dup
NC_000023.10:g.(?_47432243)_(47436920_?)del
NC_000023.10:g.(?_62875364)_(62944601_?)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NC_000023.10:g.(?_99596881)_(99597093_?)dup
NC_000023.10:g.11600773_12249902del649130
NC_000023.10:g.11633731_11797224del163494
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup]
NC_000023.11:g.(18581559_18597843)dup
NC_000023.11:g.(?_155530103)_(155550495_?)del
NC_000023.11:g.(?_155531678)_(155556173_?)del
NC_000023.11:g.(?_31660226)_(31820401_?)del
NC_000023.11:g.(?_31774439)_(31859356_?)del
NC_000023.11:g.(?_32070396)_(32212245_?)del
NC_000023.11:g.(?_32345828)_(32377888_?)del
NC_000023.11:g.(?_44209146)_(46109507_?)del
NC_000023.11:g.(?_4692064)_(6048196_?)del
NC_000023.11:g.(?_621471)_(636910_?)del
NC_000023.11:g.(?_6526750)_(8172018_?)del
NC_000023.11:g.(?_6536927)_(8156323_?)del
NC_000023.11:g.(?_6776477)_(7923774_?)del
NC_000023.11:g.(?_80671287)_(80671570_?)dup
NC_000023.11:g.153694345del rs1603217468
NC_000023.11:g.154031853_154031854ins77278664_77280319
NC_012920.1(MT-ATP6):m.9032T>C rs1603221994
NC_012920.1(MT-ATP6):m.9049G>A rs1603222011
NC_012920.1:m.15060G>A rs1057516072
NC_012920.1:m.9237G>A rs1057516064
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly) rs1897876766
NM_000021.4(PSEN1):c.338+7A>G rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) rs63750353
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) rs267606983
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe) rs1362575880
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1072-1G>A
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) rs2058978388
NM_000030.3(AGXT):c.259del (p.Glu87fs)
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
NM_000030.3(AGXT):c.279del (p.Leu94fs)
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal) rs180177193
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.305T>A (p.Val102Asp) rs1304689724
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs) rs2106427288
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) rs747043550
NM_000030.3(AGXT):c.359-2A>G
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
NM_000030.3(AGXT):c.389del (p.Pro130fs)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) rs2058986411
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423+2T>C
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) rs1193344118
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) rs1400552764
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.595+1G>A
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) rs180177253
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>A
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
NM_000030.3(AGXT):c.838del (p.Ala280fs) rs2106430924
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.848del
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.973del (p.Ala325fs) rs2059037657
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg) rs2091726796
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp) rs2091726809
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
NM_000033.4(ABCD1):c.1081+1G>C
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.10dup (p.Leu4fs) rs2091702447
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
NM_000033.4(ABCD1):c.125del (p.Pro42fs) rs2148388674
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1394-2_1404del
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr) rs2148396070
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn) rs2091753125
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro) rs2091762267
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser) rs2148397545
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu) rs1569541087
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg) rs1569541088
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val) rs2148397565
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg) rs2091763089
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr) rs2091764526
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg) rs398123105
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr) rs2148397936
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del) rs2091764754
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
NM_000033.4(ABCD1):c.1781-2A>G
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser) rs2091772331
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala) rs78993751
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr) rs2148399060
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val) rs2148399208
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr) rs2091775068
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro) rs2091775375
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu) rs868953385
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.290A>G (p.His97Arg) rs2091705296
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp) rs1557052362
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser) rs1569540693
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly) rs1569540695
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu) rs1057517954
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg) rs2091708534
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs) rs2091708827
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro) rs2091709142
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn) rs2091709198
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del) rs2091710358
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser) rs2091710960
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp) rs128624218
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val) rs2091711473
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr) rs782509393
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly) rs782334088
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp) rs2148389975
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.900+2T>C rs2091712381
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.901-9_903del rs2148391889
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met) rs2091726242
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly) rs2091726251
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del) rs2148391915
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) rs1927166327
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1513G>T (p.Val505Phe) rs1603004514
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) rs128621201
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu) rs2147427209
NM_000061.3(BTK):c.1567-117_1604del rs2147425786
NM_000061.3(BTK):c.1631+5G>C rs1926404279
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr) rs1927146374
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser) rs1603002421
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val) rs1926378381
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu) rs1603001805
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) rs1926352588
NM_000061.3(BTK):c.1908+1G>T rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) rs1926219727
NM_000061.3(BTK):c.240+109C>A rs2147447393
NM_000061.3(BTK):c.305T>C (p.Phe102Ser) rs2147444867
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.884T>C (p.Leu295Pro) rs1926588125
NM_000061.3(BTK):c.974+5G>C rs2147430161
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1068dup (p.Asn357Ter)
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
NM_000098.3(CPT2):c.1198_1199del (p.Gln400fs)
NM_000098.3(CPT2):c.1282dup (p.Thr428fs)
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs) rs1557718075
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1455_1458dup (p.Glu487fs)
NM_000098.3(CPT2):c.1476_1482dup (p.Lys495fs)
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.1836del (p.Tyr614fs)
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.192C>A (p.Tyr64Ter)
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.213_214del (p.Leu72fs) rs751253358
NM_000098.3(CPT2):c.257del (p.Ser86fs)
NM_000098.3(CPT2):c.350_354del (p.Phe117fs) rs778895906
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.725dup (p.His242fs)
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000100.4(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.4(CSTB):c.169-2A>G rs386833441
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.4(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000108.5(DLD):c.1016del (p.Val339fs)
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
NM_000108.5(DLD):c.1047-1G>A
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter) rs2032293119
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter) rs2032293586
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.1185dup (p.His396fs)
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
NM_000108.5(DLD):c.119-1G>A rs2116206966
NM_000108.5(DLD):c.119-1G>T
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.198+1G>T
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.19dup (p.Val7fs)
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
NM_000108.5(DLD):c.268-1G>A
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.325A>T (p.Arg109Ter) rs2031930307
NM_000108.5(DLD):c.337+1G>T
NM_000108.5(DLD):c.338-1G>A
NM_000108.5(DLD):c.338-2A>G
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.40-2A>G
NM_000108.5(DLD):c.439-1G>C
NM_000108.5(DLD):c.439-2A>G
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
NM_000108.5(DLD):c.582+2T>C
NM_000108.5(DLD):c.583-1G>C rs2032004082
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.737del (p.Gly246fs)
NM_000108.5(DLD):c.748G>T (p.Gly250Ter) rs2032247686
NM_000108.5(DLD):c.801del (p.Lys267fs)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter) rs2032249629
NM_000108.5(DLD):c.821dup (p.Leu274fs) rs751883130
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.82dup (p.Ser28fs)
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000108.5(DLD):c.875+1G>T rs1328820332
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
NM_000108.5(DLD):c.904G>T (p.Glu302Ter) rs2032281944
NM_000108.5(DLD):c.936C>A (p.Cys312Ter) rs2032282970
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
NM_000144.5(FXN):c.166-5T>G rs2133102338
NM_000144.5(FXN):c.517T>G (p.Trp173Gly) rs56214919
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000156.6(GAMT):c.113dup (p.Lys39fs)
NM_000156.6(GAMT):c.115A>G (p.Lys39Glu)
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
NM_000156.6(GAMT):c.160G>C (p.Ala54Pro)
NM_000156.6(GAMT):c.163_181+6del rs2144640856
NM_000156.6(GAMT):c.181+2T>C rs2144640859
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) rs1300512258
NM_000156.6(GAMT):c.182-2A>G rs2082624299
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys)
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
NM_000156.6(GAMT):c.301del (p.Asp101fs) rs780806777
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000156.6(GAMT):c.324_325del (p.His108fs) rs2144638048
NM_000156.6(GAMT):c.327+1G>T rs2144638033
NM_000156.6(GAMT):c.327+2T>G
NM_000156.6(GAMT):c.328-2A>G rs2082621259
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter) rs2144637546
NM_000156.6(GAMT):c.356dup (p.Asp119fs) rs2144637533
NM_000156.6(GAMT):c.391+1G>C rs1600158894
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter) rs556829801
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) rs747656257
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
NM_000156.6(GAMT):c.459+1G>A
NM_000156.6(GAMT):c.475del (p.Leu159fs)
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) rs2144636453
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) rs1483148182
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) rs1600158346
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.50del (p.Ser17fs)
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg) rs891042971
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.526del (p.Glu176fs) rs2144636246
NM_000156.6(GAMT):c.564G>T (p.Met188Ile)
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter) rs80338734
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000157.3(GBA1):c.[1197G>T];[1603C>T]
NM_000157.3(GBA1):c.[1448T>C];[167T>G]
NM_000157.3(GBA1):c.[1448T>C];[407C>T]
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val) rs878853315
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr) rs1392291885
NM_000157.4(GBA1):c.1238A>C (p.His413Pro) rs911331923
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn) rs1671712475
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro) rs772548282
NM_000157.4(GBA1):c.1312G>C (p.Asp438His) rs1553217009
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) rs77369218
NM_000157.4(GBA1):c.1388+2T>C rs1571965880
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser) rs878853320
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr) rs878853317
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro) rs878853314
NM_000157.4(GBA1):c.444del (p.Ser149fs)
NM_000157.4(GBA1):c.509G>A (p.Arg170His) rs80356763
NM_000157.4(GBA1):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala) rs878853321
NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala) rs770796008
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu) rs79215220
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn) rs74731340
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter) rs1818692381
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter) rs555359738
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
NM_000170.3(GLDC):c.1057_1058+13del
NM_000170.3(GLDC):c.1059-1G>C rs1587958061
NM_000170.3(GLDC):c.1059-1G>T rs1587958061
NM_000170.3(GLDC):c.1072A>T (p.Lys358Ter) rs1818624667
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr) rs1300550278
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
NM_000170.3(GLDC):c.1155+1G>T
NM_000170.3(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.3(GLDC):c.1261+1G>C
NM_000170.3(GLDC):c.1261+2T>A rs1818463608
NM_000170.3(GLDC):c.1285_1286insCAAA (p.Leu429fs) rs386833522
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1299del (p.Phe434fs)
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.3(GLDC):c.1333_1334del (p.Val446fs)
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter) rs1818405533
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter) rs1818404451
NM_000170.3(GLDC):c.1401+5G>T
NM_000170.3(GLDC):c.1402-1G>A rs386833525
NM_000170.3(GLDC):c.1402-1G>C rs386833525
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg) rs1587950355
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1506_1507insCACTT (p.Glu503fs)
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter) rs1038321056
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr) rs386833528
NM_000170.3(GLDC):c.1619_1621delinsT (p.Lys540fs)
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1665+2del
NM_000170.3(GLDC):c.1666-1G>A
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1740C>G (p.His580Gln) rs1587946346
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter) rs1818289261
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter) rs1818289122
NM_000170.3(GLDC):c.1800_1801insAGACAGT (p.Asp601delinsArgGlnTer)
NM_000170.3(GLDC):c.1805dup (p.Leu602fs)
NM_000170.3(GLDC):c.1811_1812insCACTCAGCAGCAG (p.Glu604fs)
NM_000170.3(GLDC):c.1812del (p.Glu604fs) rs2129831647
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
NM_000170.3(GLDC):c.1822_1832del (p.Tyr608fs) rs386833532
NM_000170.3(GLDC):c.1825_1826del (p.Asp609fs)
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr) rs2129831448
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu) rs2129831443
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile) rs1818287644
NM_000170.3(GLDC):c.1850+1G>T rs774099283
NM_000170.3(GLDC):c.1850+1del rs1399754800
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)
NM_000170.3(GLDC):c.1926+1G>A rs386833534
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1927-1G>A rs2129735367
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter) rs1563836857
NM_000170.3(GLDC):c.2017del (p.Tyr673fs)
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2053-2A>C rs1323060528
NM_000170.3(GLDC):c.2053-2A>G
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter) rs149694787
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala) rs386833539
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile) rs386833540
NM_000170.3(GLDC):c.2118_2119del (p.Phe706fs)
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
NM_000170.3(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter) rs779434645
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)
NM_000170.3(GLDC):c.2189del (p.Asn730fs)
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr) rs2129725849
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2212_2218del (p.Cys738fs)
NM_000170.3(GLDC):c.2213_2214del (p.Cys738fs) rs386833546
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
NM_000170.3(GLDC):c.2258A>C (p.His753Pro) rs386833547
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
NM_000170.3(GLDC):c.2279A>T (p.His760Leu) rs1817583687
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala) rs2129719653
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala) rs760077981
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
NM_000170.3(GLDC):c.2366del (p.Lys789fs)
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro) rs2130031802
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.2458-1G>T rs1554643370
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter) rs1817497939
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.255+1G>A rs386833563
NM_000170.3(GLDC):c.255+3A>T rs1417674040
NM_000170.3(GLDC):c.256-2A>G
NM_000170.3(GLDC):c.2570-2A>G
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter) rs765893483
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser) rs2129650066
NM_000170.3(GLDC):c.2680del (p.Thr894fs)
NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter) rs1817123754
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter) rs759933539
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val) rs1817122724
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter) rs1817121202
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2839-1G>C rs386833569
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp) rs1172061571
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly) rs386833573
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter) rs1819702000
NM_000170.3(GLDC):c.315_316del (p.Lys106fs)
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter) rs1819059889
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.447del (p.Asn150fs)
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr) rs386833578
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser) rs386833578
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter) rs1819058509
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu) rs2129948795
NM_000170.3(GLDC):c.471-1G>C rs1818826951
NM_000170.3(GLDC):c.471-1G>T
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)
NM_000170.3(GLDC):c.493del (p.Gln165fs)
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)
NM_000170.3(GLDC):c.548_550delinsA (p.Val183fs)
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter) rs759699162
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly) rs386833583
NM_000170.3(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter) rs1163351205
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter) rs776895767
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.635+1G>T
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.636-2A>G
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro) rs772832052
NM_000170.3(GLDC):c.713+1G>A rs903653902
NM_000170.3(GLDC):c.714-1G>A rs2129898670
NM_000170.3(GLDC):c.734_735delinsT (p.Glu245fs)
NM_000170.3(GLDC):c.74del (p.Gly25fs)
NM_000170.3(GLDC):c.754del (p.Met252fs)
NM_000170.3(GLDC):c.773_774insGACAGTA (p.Asp258fs)
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp) rs1818705322
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter) rs386833588
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
NM_000170.3(GLDC):c.848C>G (p.Ala283Gly) rs2129898042
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter) rs1818703974
NM_000170.3(GLDC):c.861+1G>T rs386833590
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg) rs141014950
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg) rs386833591
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter) rs1818695432
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter) rs143256976
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln) rs1207147043
NM_000170.3(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.3(GLDC):c.951_952del (p.Gln318fs)
NM_000170.3(GLDC):c.959_960del (p.Phe320fs)
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr) rs386833593
NM_000170.3(GLDC):c.989A>G (p.His330Arg) rs1267445922
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs) rs1553333346
NM_000190.4(HMBS):c.958del (p.Ala320fs) rs1057518806
NM_000193.4(SHH):c.206A>T (p.Asn69Ile) rs777486607
NM_000210.4(ITGA6):c.*91AGA[1] rs863223349
NM_000217.3(KCNA1):c.1186G>C (p.Gly396Arg) rs2137673957
NM_000240.4(MAOA):c.233dup (p.Leu78fs) rs2033551253
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.456_457del (p.Met152fs) rs1588622713
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) rs2063246734
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val) rs2147189334
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp) rs2147176072
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.46del (p.Ser16fs) rs2147168716
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.57+2531T>C rs2063135938
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) rs2147180742
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His) rs2147180839
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu) rs2147180851
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) rs2147184502
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs) rs2147184540
NM_000284.4(PDHA1):c.899+2T>C
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.363del (p.Leu122fs)
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1046+1G>T
NM_000287.4(PEX6):c.1094del (p.Val365fs)
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_000287.4(PEX6):c.1234-2A>G rs2114247797
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1367+1G>A rs1769988075
NM_000287.4(PEX6):c.1367+2T>C
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1479+1G>A
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
NM_000287.4(PEX6):c.1689-1G>A rs267608223
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1884+1G>A
NM_000287.4(PEX6):c.1885-1G>A
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-2A>G
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
NM_000287.4(PEX6):c.2227del (p.His743fs)
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
NM_000287.4(PEX6):c.2361del (p.Val788fs)
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln) rs2114238521
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2462del (p.Val821fs)
NM_000287.4(PEX6):c.2471+1G>A
NM_000287.4(PEX6):c.2472-1G>A
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter) rs267608243
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
NM_000287.4(PEX6):c.2589-1G>A
NM_000287.4(PEX6):c.2589-1G>T rs2114237186
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2667-2A>G rs267608249
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.600del (p.Thr201fs)
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
NM_000287.4(PEX6):c.883-2A>G
NM_000287.4(PEX6):c.883-6_887del
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu) rs2150236110
NM_000287.4(PEX6):c.954del (p.Arg319fs)
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
NM_000288.4(PEX7):c.130+1G>C rs267608253
NM_000288.4(PEX7):c.131-1G>A rs2115129048
NM_000288.4(PEX7):c.131-2A>G rs1554328790
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.189-2A>G rs1554328952
NM_000288.4(PEX7):c.206del (p.Gly69fs)
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.233del (p.Asn78fs) rs1582732852
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr) rs61753240
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
NM_000288.4(PEX7):c.297del (p.Ala100fs)
NM_000288.4(PEX7):c.31_56del (p.Met11fs) rs1057516961
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.339+2T>C rs1057517059
NM_000288.4(PEX7):c.340-1G>T rs780751870
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) rs769137963
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.418-1G>A rs773406384
NM_000288.4(PEX7):c.418-1G>C rs773406384
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.513del (p.Phe171fs)
NM_000288.4(PEX7):c.527-2A>G rs1057517339
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.545dup (p.Trp183fs) rs1057516574
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) rs1057516882
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.634-2A>G
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.735dup (p.Arg246Ter) rs1582760004
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.747+1G>A
NM_000288.4(PEX7):c.747+2T>A
NM_000288.4(PEX7):c.747del (p.Lys249fs)
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.774_784del (p.Ala259fs) rs1057516824
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.806dup (p.Trp270fs) rs1464766327
NM_000288.4(PEX7):c.817del (p.Ser273fs) rs1554335926
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) rs1057516737
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer) rs1554335937
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
NM_000306.4(POU1F1):c.215-3C>G rs754584667
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr) rs2106927025
NM_000308.4(CTSA):c.445-18_447del rs1987030082
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)
NM_000311.5(PRNP):c.392G>A (p.Gly131Glu) rs74315410
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) rs74315410
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000311.5(PRNP):c.563C>G (p.Thr188Arg)
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) rs74315406
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-60dup rs1564801473
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
NM_000318.3(PEX2):c.260del (p.Asn87fs)
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.310del (p.Ile104fs)
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.352del (p.Glu118fs)
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
NM_000318.3(PEX2):c.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
NM_000318.3(PEX2):c.521_524del (p.His174fs)
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
NM_000318.3(PEX2):c.834_838del (p.Phe278fs) rs267608188
NM_000330.4(RS1):c.185-3090C>T rs1569231336
NM_000330.4(RS1):c.326+1111del
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) rs104893878
NM_000368.5(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000368.5(TSC1):c.107-1G>C
NM_000368.5(TSC1):c.1264-2A>G
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.846del (p.Ala283fs) rs1846010451
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) rs1008240677
NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp) rs1805742556
NM_000370.3(TTPA):c.182del (p.Phe61fs) rs1805742175
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter) rs1351036862
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000370.3(TTPA):c.1A>T (p.Met1Leu) rs1408863841
NM_000370.3(TTPA):c.204+1G>T
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) rs1554524061
NM_000370.3(TTPA):c.2T>A (p.Met1Lys) rs786204758
NM_000370.3(TTPA):c.302_309del (p.His101fs)
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) rs1057516423
NM_000370.3(TTPA):c.339del (p.Val114fs) rs1563363293
NM_000370.3(TTPA):c.358+2T>C
NM_000370.3(TTPA):c.358+2T>G
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)
NM_000370.3(TTPA):c.441del (p.Glu148fs) rs1057517448
NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.489del (p.Trp163fs)
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) rs1554605498
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
NM_000370.3(TTPA):c.74del (p.Gln25fs)
NM_000370.3(TTPA):c.80del (p.Gly27fs)
NM_000370.3(TTPA):c.83_105del (p.Leu28fs) rs1554525128
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs) rs1805745954
NM_000370.3(TTPA):c.88_118del (p.Ala30fs) rs1554525125
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1076-1G>A rs1554901731
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1076-2A>T rs1424116749
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro) rs119455956
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) rs121908201
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) rs1554901576
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) rs1407106889
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) rs1855559514
NM_000391.4(TPP1):c.1449del (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.147del (p.Thr50fs)
NM_000391.4(TPP1):c.1551+1G>A rs786204553
NM_000391.4(TPP1):c.1551+1G>T rs786204553
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) rs1554901463
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) rs1057516579
NM_000391.4(TPP1):c.17+1G>A rs779615685
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.230-1G>C rs1057516667
NM_000391.4(TPP1):c.230-2A>G
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) rs1554902043
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.509-1G>T rs56144125
NM_000391.4(TPP1):c.533del (p.Pro178fs) rs1855599044
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.609dup (p.Val204fs) rs1057516366
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
NM_000391.4(TPP1):c.819del (p.Ser274fs) rs1057517313
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) rs886041487
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000411.8(HLCS):c.1681dup
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe) rs1198548214
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs) rs2126781231
NM_000414.4(HSD17B4):c.113-1G>T rs1224475289
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
NM_000414.4(HSD17B4):c.1261+1G>T
NM_000414.4(HSD17B4):c.1262-1G>A rs2126806430
NM_000414.4(HSD17B4):c.1262-1G>C
NM_000414.4(HSD17B4):c.1262-2A>G rs1751692890
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter) rs1057516735
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
NM_000414.4(HSD17B4):c.1333+1G>A
NM_000414.4(HSD17B4):c.1334-2A>T rs1554066421
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.1438-1G>A rs1554067009
NM_000414.4(HSD17B4):c.1438-1G>C
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs) rs1057516859
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1504-1G>A
NM_000414.4(HSD17B4):c.1504-2A>C rs1554068134
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg) rs1753477498
NM_000414.4(HSD17B4):c.1573+1G>A
NM_000414.4(HSD17B4):c.1573+1G>T
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
NM_000414.4(HSD17B4):c.1681-1G>C
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1768-1G>A
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
NM_000414.4(HSD17B4):c.1854+2T>C
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs) rs1057516312
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs) rs1057517152
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
NM_000414.4(HSD17B4):c.1993+2T>G rs1554068960
NM_000414.4(HSD17B4):c.1994-1G>A
NM_000414.4(HSD17B4):c.1994-1G>C
NM_000414.4(HSD17B4):c.1994-2A>G rs1554069592
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu) rs1488399880
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)
NM_000414.4(HSD17B4):c.2121+1G>A
NM_000414.4(HSD17B4):c.2121+1G>C rs1554069610
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)
NM_000414.4(HSD17B4):c.220+2T>C rs1231357043
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His) rs1755036404
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.221-1G>C rs1554062168
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
NM_000414.4(HSD17B4):c.25_44del (p.Gly9fs)
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.280+1_280+3del rs2126684546
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp) rs1561442127
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.303-1G>A
NM_000414.4(HSD17B4):c.349+1G>T rs1057516958
NM_000414.4(HSD17B4):c.350-1G>A
NM_000414.4(HSD17B4):c.350-1G>T
NM_000414.4(HSD17B4):c.358del (p.His120fs)
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.435-2A>G
NM_000414.4(HSD17B4):c.435-2A>T rs1171426785
NM_000414.4(HSD17B4):c.56_58+3del rs1554059509
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs) rs1057516310
NM_000414.4(HSD17B4):c.623-1G>A rs1554064083
NM_000414.4(HSD17B4):c.623-2A>G
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs) rs1057516750
NM_000414.4(HSD17B4):c.714+1G>C
NM_000414.4(HSD17B4):c.715-1G>A
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
NM_000414.4(HSD17B4):c.739+1G>A rs1561456373
NM_000414.4(HSD17B4):c.739+1G>T
NM_000414.4(HSD17B4):c.739+2T>C
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
NM_000414.4(HSD17B4):c.788del (p.Pro263fs) rs1561457987
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter) rs1057516269
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
NM_000414.4(HSD17B4):c.972+1G>A
NM_000414.4(HSD17B4):c.972+1del
NM_000414.4(HSD17B4):c.973-2A>C rs1057517118
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter) rs2151660977
NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser) rs1599391986
NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg) rs1599391938
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly) rs1555728965
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) rs1568362252
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr) rs1555729584
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.129+1G>A rs2116298327
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) rs1585248089
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1359+1G>C
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1533del (p.Asp512fs) rs2116205361
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>T
NM_000466.3(PEX1):c.1587+2T>C rs1554373578
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
NM_000466.3(PEX1):c.1793_1803+1del rs2116180739
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1890del (p.Ala631fs) rs2116175944
NM_000466.3(PEX1):c.1895del (p.Leu632fs)
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1900+1G>A rs770447891
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1901-1G>T
NM_000466.3(PEX1):c.1901-2A>G
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072-1G>A
NM_000466.3(PEX1):c.2072-42_2085del rs1792018845
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
NM_000466.3(PEX1):c.2227-1G>C
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2417-1G>T
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs) rs1793076195
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2718+1G>A
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs) rs2116095487
NM_000466.3(PEX1):c.2849dup (p.His951fs)
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3207+1G>C rs267608181
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
NM_000466.3(PEX1):c.3438+1G>A rs1554367284
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3439-2A>G
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.357+1G>C rs866144313
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.3573del (p.Glu1191fs) rs1585211048
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
NM_000466.3(PEX1):c.496del (p.Tyr166fs)
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.573del (p.Ala192fs) rs1585255490
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr) rs768293167
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
NM_000481.4(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.16del (p.Ser6fs) rs1553638907
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
NM_000481.4(AMT):c.230C>A (p.Ser77Ter) rs386833680
NM_000481.4(AMT):c.248A>C (p.His83Pro)
NM_000481.4(AMT):c.258+1G>A
NM_000481.4(AMT):c.259-1G>C rs386833681
NM_000481.4(AMT):c.259-2A>T
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
NM_000481.4(AMT):c.293T>G (p.Met98Arg) rs2107935989
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.339+2T>C
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs) rs2107933735
NM_000481.4(AMT):c.383del (p.Asp128fs) rs2107933731
NM_000481.4(AMT):c.3G>A (p.Met1Ile) rs2107938475
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.471+2_471+7del
NM_000481.4(AMT):c.472-2A>T rs2107932966
NM_000481.4(AMT):c.535del (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.4(AMT):c.63del (p.Leu22fs) rs386833688
NM_000481.4(AMT):c.657dup (p.Val220fs) rs2049058298
NM_000481.4(AMT):c.664C>A (p.Arg222Ser) rs781466698
NM_000481.4(AMT):c.665G>T (p.Arg222Leu) rs562695274
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000481.4(AMT):c.696+1G>A rs1553638460
NM_000481.4(AMT):c.696+2T>A rs541594122
NM_000481.4(AMT):c.696G>A (p.Glu232=) rs1352631535
NM_000481.4(AMT):c.697-1G>A
NM_000481.4(AMT):c.697-2A>C
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.877+5G>A
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>T (p.Arg296Leu) rs386833690
NM_000481.4(AMT):c.90+1G>T
NM_000481.4(AMT):c.91-2A>G
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000484.4(APP):c.2061A>C (p.Lys687Asn)
NM_000484.4(APP):c.2113C>G (p.Leu705Val) rs63750921
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
NM_000489.6(ATRX):c.485-1G>A rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys) rs1602979414
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) rs2068193669
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) rs1057521987
NM_000489.6(ATRX):c.565C>T (p.His189Tyr) rs2148656473
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr) rs2147761759
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr) rs2071439399
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000515.5(GH1):c.131A>C (p.His44Pro) rs754126557
NM_000515.5(GH1):c.254C>T (p.Pro85Leu) rs1567803095
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter) rs1322698222
NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile)
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter) rs2089059318
NM_000520.6(HEXA):c.103del (p.Gln35fs)
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1073+1G>T rs76173977
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter) rs2088635583
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter) rs2088635505
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter) rs1415609256
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter) rs2088635332
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter) rs1057516617
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs) rs1555472440
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs) rs1555472432
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) rs1177678117
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)
NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs) rs1555475498
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter) rs1555472270
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+2T>C rs1555472262
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.183_193del (p.Asp62fs) rs1057516640
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter) rs1057516957
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.207_208del (p.Asp70fs)
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.24_25del (p.Ser9fs) rs1057517348
NM_000520.6(HEXA):c.254-1G>C
NM_000520.6(HEXA):c.254-2A>G rs2088785868
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter) rs2088784856
NM_000520.6(HEXA):c.288del (p.Val97fs)
NM_000520.6(HEXA):c.314del (p.Asn105fs)
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys) rs1282031681
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter) rs2088766427
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
NM_000520.6(HEXA):c.400_401del (p.Gly134fs)
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000520.6(HEXA):c.413-1G>A
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.421_422insAGGAGCC (p.Thr141fs)
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter) rs2088732981
NM_000520.6(HEXA):c.459+1G>A rs2140326761
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) rs28941771
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.604C>T (p.His202Tyr) rs2140324712
NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer) rs2088690482
NM_000520.6(HEXA):c.617T>A (p.Val206Glu)
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)
NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
NM_000520.6(HEXA):c.786C>G (p.His262Gln)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-1G>C rs1057516908
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp) rs2088664194
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)
NM_000520.6(HEXA):c.822_823del (p.Thr275fs)
NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) rs786204515
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter) rs2088660599
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
NM_000520.6(HEXA):c.977del (p.Phe326fs) rs756040251
NM_000520.6(HEXA):c.986+1G>A rs2140322856
NM_000520.6(HEXA):c.986+1G>C rs2140322856
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter) rs121907967
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000520.6:c.572_1146del
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter) rs1749651571
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter) rs1749652247
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter) rs1354786875
NM_000521.4(HEXB):c.1082+2T>C rs989299922
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
NM_000521.4(HEXB):c.1169+1G>A
NM_000521.4(HEXB):c.1169+1G>C rs2112177192
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.118del (p.Ala40fs) rs1554034447
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
NM_000521.4(HEXB):c.1242+3G>T rs778226392
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter) rs1749739842
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.133del (p.Ala45fs) rs1554034449
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) rs121907983
NM_000521.4(HEXB):c.1520del (p.Ser507fs) rs1554037120
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-7_1614-1dup rs2112188865
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) rs2112189087
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) rs1749847524
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.277del (p.Leu93fs)
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299+1G>A rs1554034505
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.300-1G>C rs967720287
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) rs1319123888
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.512-1G>T rs1554035308
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) rs1749120310
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.559-1G>A
NM_000521.4(HEXB):c.559-1G>T rs1311903314
NM_000521.4(HEXB):c.56del (p.Leu19fs) rs1554034423
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
NM_000521.4(HEXB):c.626del (p.Thr209fs)
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) rs1749130818
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) rs1554035822
NM_000521.4(HEXB):c.705C>G (p.His235Gln) rs2112156345
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter) rs1749359626
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.772-2A>C
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
NM_000521.4(HEXB):c.806del (p.Asn269fs) rs2112171738
NM_000521.4(HEXB):c.825del (p.Ile275fs) rs1554036523
NM_000521.4(HEXB):c.860del (p.Pro287fs)
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) rs2112171931
NM_000521.4(HEXB):c.902-1G>T rs1554036638
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
NM_000521.4:c.1_669del
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.6(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.647T>A (p.Val216Glu) rs1057520004
NM_000546.6(TP53):c.647T>G (p.Val216Gly) rs1057520004
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.6(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.810T>G (p.Phe270Leu) rs1057519987
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3284+1dup
NM_000548.5(TSC2):c.3824del (p.Phe1275fs) rs1185513978
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) rs1653241392
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met) rs746383817
NM_000702.4(ATP1A2):c.12+1G>A
NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs)
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1652-1G>T
NM_000702.4(ATP1A2):c.1965-2A>G
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2284+1G>A
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu) rs1570994712
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val) rs2101995847
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu)
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000702.4(ATP1A2):c.381+1G>A rs2101985522
NM_000702.4(ATP1A2):c.495+2T>C
NM_000702.4(ATP1A2):c.496-1G>A rs773117459
NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp) rs1219118149
NM_000702.4(ATP1A2):c.748+1G>C
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu)
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del)
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro) rs2060536584
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.256-1G>A
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His) rs1696167453
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1185-2A>C rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) rs1943770060
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
NM_000784.4(CYP27A1):c.1477-1G>A
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter) rs1943689487
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter) rs1943689944
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
NM_000784.4(CYP27A1):c.440_446+2del rs2105978950
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.58del (p.Leu20fs) rs2106479076
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter) rs186812403
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter) rs1414259537
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) rs1943736101
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.845-46_881del
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile) rs1577800481
NM_000807.4(GABRA2):c.995C>T (p.Ala332Val) rs2109351409
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) rs1595438268
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) rs2110051822
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.173-2A>T rs1891176092
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) rs1890857965
NM_000814.6(GABRB3):c.630G>C (p.Gln210His) rs1890744574
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys) rs1890742227
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) rs1890229646
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln) rs1890228169
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val) rs2140696722
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425
NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)
NM_000817.3(GAD1):c.1370G>A (p.Arg457His)
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly) rs1575446166
NM_000817.3(GAD1):c.548-2A>C
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) rs606231412
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) rs606231413
NM_000823.4(GHRHR):c.[1102C>T;481C>T]
NM_000827.4(GRIA1):c.1538G>A (p.Gly513Glu)
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_000827.4(GRIA1):c.2615G>C (p.Ser872Thr)
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser) rs1555050158
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp) rs1555050165
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly) rs1555050171
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val) rs1555050174
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro) rs765556214
NM_000833.3:c.(?_-310-1)_(414+1_415-1)del
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile) rs1950069464
NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys)
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val) rs1591643530
NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter) rs747172511
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.5(GRIN2B):c.1308C>A (p.Cys436Ter)
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr) rs397514555
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe) rs1949427787
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln) rs763436882
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg) rs867553974
NM_000834.5(GRIN2B):c.1496G>T (p.Gly499Val) rs1949425904
NM_000834.5(GRIN2B):c.1500+1G>A
NM_000834.5(GRIN2B):c.1540A>G (p.Thr514Ala) rs1949421055
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1573T>G (p.Phe525Val) rs1949420397
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His) rs672601378
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
NM_000834.5(GRIN2B):c.1646C>T (p.Ala549Val)
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile) rs1949369220
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) rs1949368959
NM_000834.5(GRIN2B):c.1685T>G (p.Met562Arg) rs1949368766
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr) rs199801114
NM_000834.5(GRIN2B):c.1821G>C (p.Trp607Cys) rs1057518700
NM_000834.5(GRIN2B):c.1821G>T (p.Trp607Cys) rs1057518700
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg) rs2136470509
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1845C>G (p.Asn615Lys) rs1949321538
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) rs1949321492
NM_000834.5(GRIN2B):c.1848C>G (p.Asn616Lys) rs1949321461
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.1883C>G (p.Ser628Cys) rs1949320966
NM_000834.5(GRIN2B):c.1883C>T (p.Ser628Phe) rs1949320966
NM_000834.5(GRIN2B):c.1906G>C (p.Ala636Pro) rs1949320812
NM_000834.5(GRIN2B):c.1907C>T (p.Ala636Val) rs1555110818
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val) rs797044930
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro) rs2136470302
NM_000834.5(GRIN2B):c.1946A>C (p.Asn649Thr) rs879253945
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val) rs1949320223
NM_000834.5(GRIN2B):c.1963A>T (p.Ile655Phe) rs1949320223
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp) rs771157135
NM_000834.5(GRIN2B):c.1985A>C (p.Gln662Pro) rs1949319877
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.5(GRIN2B):c.2010+1G>C
NM_000834.5(GRIN2B):c.2011-2_2038dup rs1591612370
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_000834.5(GRIN2B):c.2060C>G (p.Pro687Arg) rs1555103986
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu) rs1555103986
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2079A>T (p.Arg693Ser) rs1948713322
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr) rs876661219
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val) rs1057518988
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val) rs1591612279
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu) rs1591611001
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro) rs2136413399
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
NM_000834.5(GRIN2B):c.2201C>T (p.Ala734Val) rs876661064
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2225G>T (p.Arg742Ile) rs1555103646
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2395G>A (p.Gly799Ser) rs1057518800
NM_000834.5(GRIN2B):c.2419G>A (p.Glu807Lys) rs1948652687
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val) rs1948652423
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser) rs1555103159
NM_000834.5(GRIN2B):c.2452A>C (p.Met818Leu) rs876661076
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr) rs879254016
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile) rs2136409777
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val) rs797044849
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile) rs2136409732
NM_000834.5(GRIN2B):c.2473T>G (p.Leu825Val) rs1948651813
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_000834.5(GRIN2B):c.2511_2512del (p.Ile837fs)
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000834.5(GRIN2B):c.2591del (p.Ile864fs)
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs) rs2136405082
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000834.5(GRIN2B):c.3912C>G (p.Tyr1304Ter) rs1407009840
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val) rs1591605514
NM_000834.5(GRIN2B):c.412-2A>G rs2136629609
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) rs796052570
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu) rs1970945661
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr) rs1970995171
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val) rs901526282
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp) rs2147455922
NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val) rs2147475435
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu) rs1971341588
NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp) rs1114167300
NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys) rs1114167301
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter) rs2151652750
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter) rs1173681603
NM_000925.4(PDHB):c.121C>T (p.Gln41Ter)
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
NM_000925.4(PDHB):c.303+1G>C
NM_000925.4(PDHB):c.304-1G>C
NM_000925.4(PDHB):c.310T>G (p.Leu104Val) rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) rs868788199
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
NM_000925.4(PDHB):c.41_43-12del
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
NM_000925.4(PDHB):c.818del (p.Pro273fs)
NM_000925.4(PDHB):c.934+1G>A
NM_000925.4(PDHB):c.96+2T>C rs2107943571
NM_000944.5(PPP3CA):c.1255_1256del (p.Ser419fs) rs1553920383
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs) rs1727004803
NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn) rs1726628642
NM_000944.5(PPP3CA):c.34_43del (p.Ser12fs) rs2110348535
NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly) rs2110253722
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala) rs2124491843
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs) rs2125500625
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) rs2076994968
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter) rs2125501418
NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)
NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter) rs2125503212
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs) rs1559662068
NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter) rs1559662077
NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg) rs2125489641
NM_001003694.2(BRPF1):c.3068+1G>T rs2077101479
NM_001003694.2(BRPF1):c.3069-1G>A
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs) rs2125515297
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg) rs2076901423
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met) rs2125500407
NM_001003787.4(STRADA):c.1101-1G>C rs1598144913
NM_001003787.4(STRADA):c.37-1G>C rs1230074670
NM_001003787.4(STRADA):c.458-1G>A
NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter) rs1567844992
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del) rs1567859975
NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.4073-2A>G rs1567864750
NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs) rs1567878511
NM_001005920.4(JMJD8):c.*65A>G rs1555475794
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs) rs2080112105
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter) rs2147439567
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs) rs2147439499
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) rs2080101583
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs) rs778917289
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
NM_001008537.3(NEXMIF):c.67del (p.Val23fs) rs2147442619
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) rs2080116462
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly) rs1553130904
NM_001012614.2(CTBP1):c.125_127del (p.Phe42del) rs1731781760
NM_001015877.2(PHF6):c.1022A>G (p.Glu341Gly) rs2077504269
NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)
NM_001015877.2(PHF6):c.376delinsCC (p.Val126fs)
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) rs1569334260
NM_001015877.2(PHF6):c.729+2T>C
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del) rs1556019105
NM_001015877.2(PHF6):c.802G>C (p.Val268Leu) rs2077467347
NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer) rs2124252847
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs) rs1554391082
NM_001020658.2(PUM1):c.1773del (p.Ser592fs) rs1640658015
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp) rs1557541619
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr) rs1644321851
NM_001024845.3(SLC6A9):c.1536+1G>A
NM_001024845.3(SLC6A9):c.235C>T (p.Pro79Ser) rs2154305890
NM_001024845.3(SLC6A9):c.31-6164G>C rs2154306852
NM_001029896.2(WDR45):c.225dup (p.Glu76fs) rs1602540235
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys) rs1602537958
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp) rs1841611651
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro) rs2131501072
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly) rs886041337
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr) rs796053365
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)
NM_001032221.6(STXBP1):c.1110+1G>A
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001032221.6(STXBP1):c.1110+3A>C rs2131501481
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG rs1588339504
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu) rs886041246
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1250-2A>G
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr) rs1840655911
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg) rs886039435
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
NM_001032221.6(STXBP1):c.1359+5G>C
NM_001032221.6(STXBP1):c.1360-2A>C rs1057522982
NM_001032221.6(STXBP1):c.1360-2A>T rs1057522982
NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser) rs1841869298
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg) rs2131522449
NM_001032221.6(STXBP1):c.1461+1G>A
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del) rs1841944944
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs) rs2131528405
NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg) rs2131535795
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg) rs1842044505
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp) rs1057523381
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu) rs796053374
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr) rs2131536069
NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg) rs1554776228
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.1706C>T (p.Ser569Phe) rs1135401819
NM_001032221.6(STXBP1):c.218_246+22del rs2132460935
NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys) rs796053352
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.246+1G>C rs1840868164
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro) rs1588306948
NM_001032221.6(STXBP1):c.325+2T>A rs1840976417
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg) rs2131454649
NM_001032221.6(STXBP1):c.37+2dup rs1838431452
NM_001032221.6(STXBP1):c.37+3A>C rs796053379
NM_001032221.6(STXBP1):c.37+3A>T rs796053379
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro) rs1060501724
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.429+2T>G
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys) rs2131462357
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly) rs1841140785
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)
NM_001032221.6(STXBP1):c.624del (p.Lys208fs) rs1841237663
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs) rs1841239642
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup) rs1841284648
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile) rs1057524795
NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr) rs1841290957
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val) rs2131473052
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro) rs2131481623
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal) rs2131481685
NM_001032221.6(STXBP1):c.87+1G>A rs796053350
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met) rs1840653229
NM_001032221.6(STXBP1):c.902+4A>G rs1554777733
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu) rs1840653547
NM_001032221.6(STXBP1):c.993del (p.Lys332fs) rs2131497300
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) rs2063344708
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) rs2063444025
NM_001032382.2(PQBP1):c.721del (p.Gln241fs)
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001032382.2(PQBP1):c.731C>T (p.Pro244Leu) rs878853145
NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter) rs863223354
NM_001035.3(RYR2):c.2238A>C (p.Gln746His) rs863223355
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001037333.3(CYFIP2):c.1651G>C (p.Val551Leu)
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly) rs1761011834
NM_001037333.3(CYFIP2):c.2086C>A (p.Leu696Met)
NM_001037333.3(CYFIP2):c.2089T>C (p.Cys697Arg) rs2113154685
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) rs1581069143
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) rs1581069148
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
NM_001037343.1:c.100-?_744+?dup
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His) rs1575362239
NM_001039590.2:c.3466_3879del
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs) rs2147118205
NM_001039591.3(USP9X):c.2877+2T>C rs2147123290
NM_001039591.3(USP9X):c.323-1G>C rs5918118
NM_001039591.3(USP9X):c.3559-1G>C rs2147163808
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val) rs2147171235
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter) rs1555932766
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg) rs2147230302
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His) rs2147251154
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
NM_001040025.3(ARL16):c.-41G>T rs863223352
NM_001040142.2(SCN2A):c.1035-7A>G rs558800241
NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser) rs1697566111
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu) rs1697569337
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu) rs2105255430
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met) rs1697584614
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1283A>T (p.Tyr428Phe) rs796053182
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs) rs1553569739
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter) rs1553569754
NM_001040142.2(SCN2A):c.1635del (p.Arg545fs)
NM_001040142.2(SCN2A):c.1672-2A>G
NM_001040142.2(SCN2A):c.1871dup (p.Asn624fs)
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
NM_001040142.2(SCN2A):c.2287del (p.Leu763fs)
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val) rs1698670041
NM_001040142.2(SCN2A):c.2380G>A (p.Gly794Arg)
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn) rs1699364791
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu) rs1574636716
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val) rs1699475919
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer) rs2105318837
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del) rs2105319200
NM_001040142.2(SCN2A):c.2896G>C (p.Val966Leu)
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu) rs2105319230
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp) rs1553583544
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly) rs1700069881
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys) rs2105336842
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del) rs1700070748
NM_001040142.2(SCN2A):c.2986G>A (p.Asp996Asn) rs2105336868
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3423_3424delinsCT (p.Glu1142Ter)
NM_001040142.2(SCN2A):c.3520+1G>T
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro) rs1700783234
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg) rs2105365343
NM_001040142.2(SCN2A):c.3839T>C (p.Leu1280Pro)
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro) rs1701139863
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=) rs1057518117
NM_001040142.2(SCN2A):c.3973-2A>G rs1701219319
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly) rs1553593578
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
NM_001040142.2(SCN2A):c.4018G>A (p.Val1340Ile) rs2105373034
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn) rs1483179196
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr) rs2105373101
NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp) rs1701224556
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val) rs1308555812
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4255-6T>A rs1701381827
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4309-2A>G
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr) rs1085307898
NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile)
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His) rs2105384764
NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg) rs1574731380
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu) rs2105385669
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val) rs2105385694
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys) rs1701579531
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
NM_001040142.2(SCN2A):c.4493A>C (p.Tyr1498Ser) rs1558879863
NM_001040142.2(SCN2A):c.4494C>G (p.Tyr1498Ter)
NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val)
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val) rs2105385817
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
NM_001040142.2(SCN2A):c.4514del (p.Gly1505fs) rs1701581960
NM_001040142.2(SCN2A):c.4551+5G>A
NM_001040142.2(SCN2A):c.4552-2A>G
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del) rs2105398203
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn)
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr) rs1057519524
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile) rs1574746759
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met) rs1553463140
NM_001040142.2(SCN2A):c.4822+1G>A
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala) rs1702003246
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys) rs1702003567
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met) rs796053158
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met) rs796053160
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro) rs1702008208
NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe) rs1702008760
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr) rs2105402379
NM_001040142.2(SCN2A):c.4989del (p.Ile1663fs) rs1702009872
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn)
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly)
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys) rs1553463772
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr) rs2105403619
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn) rs1702039582
NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly) rs1057519525
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val) rs2105243497
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln) rs1559352517
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser) rs2105244912
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.647T>C (p.Leu216Ser)
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile) rs2105245017
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) rs1553567561
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala) rs1553567561
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr) rs1064795014
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
NM_001040142.2(SCN2A):c.785T>C (p.Phe262Ser) rs1697364805
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu) rs387906686
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys)
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001040142.2(SCN2A):c.971-1G>A rs2105251415
NM_001040616.3(LINS1):c.1222+2T>C
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) rs2141262985
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs) rs2141261531
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) rs1383641417
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_001040616.3(LINS1):c.631+1G>A
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)
NM_001042432.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_001042432.2(CLN3):c.1050_1056+19del
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
NM_001042432.2(CLN3):c.1056+1G>A
NM_001042432.2(CLN3):c.1056+1G>T rs1217725909
NM_001042432.2(CLN3):c.1056+3A>C rs386833698
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_001042432.2(CLN3):c.1056G>T (p.Gln352His) rs386833699
NM_001042432.2(CLN3):c.1057-1G>A
NM_001042432.2(CLN3):c.1057-2A>G rs1218568487
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_001042432.2(CLN3):c.1067dup (p.Val357fs) rs1555467473
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter) rs142456044
NM_001042432.2(CLN3):c.1127del (p.Leu376fs) rs2046022108
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.125+1del rs1555469452
NM_001042432.2(CLN3):c.125+2T>C
NM_001042432.2(CLN3):c.126-1G>A rs386833705
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
NM_001042432.2(CLN3):c.1272del (p.Leu425fs) rs386833707
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
NM_001042432.2(CLN3):c.195dup (p.Lys66fs) rs1555469159
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_001042432.2(CLN3):c.222+1G>A
NM_001042432.2(CLN3):c.222+2T>G rs386833710
NM_001042432.2(CLN3):c.222+5G>C rs386833711
NM_001042432.2(CLN3):c.223-1G>A rs1555469089
NM_001042432.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_001042432.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_001042432.2(CLN3):c.250del (p.His84fs)
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs) rs1057517215
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro) rs386833714
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
NM_001042432.2(CLN3):c.373del (p.Ser125fs) rs1596563048
NM_001042432.2(CLN3):c.374+1G>A rs2046243804
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_001042432.2(CLN3):c.375-2A>T rs2046240661
NM_001042432.2(CLN3):c.375-2del
NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_001042432.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_001042432.2(CLN3):c.419del (p.Val140fs)
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.46+1G>A rs1057516343
NM_001042432.2(CLN3):c.46+1G>C rs1057516343
NM_001042432.2(CLN3):c.460+1G>A rs1397086223
NM_001042432.2(CLN3):c.460+2T>G
NM_001042432.2(CLN3):c.461-13G>C rs386833721
NM_001042432.2(CLN3):c.461-1G>A rs386833722
NM_001042432.2(CLN3):c.461-1G>C rs386833722
NM_001042432.2(CLN3):c.461-3C>G rs181995380
NM_001042432.2(CLN3):c.467del (p.Val156fs)
NM_001042432.2(CLN3):c.47-2A>T
NM_001042432.2(CLN3):c.47-2del
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp) rs1418465028
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)
NM_001042432.2(CLN3):c.533+1G>A rs386833728
NM_001042432.2(CLN3):c.533+1G>C rs386833728
NM_001042432.2(CLN3):c.534-1G>C
NM_001042432.2(CLN3):c.534-2A>G rs2046221354
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.569del (p.Gly190fs) rs386833732
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.586dup (p.Ala196fs) rs386833735
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_001042432.2(CLN3):c.639del (p.Leu214fs) rs2046218391
NM_001042432.2(CLN3):c.677+1G>T rs1057517287
NM_001042432.2(CLN3):c.678-1_680del
NM_001042432.2(CLN3):c.683dup (p.Leu230fs) rs1057516335
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) rs2046158549
NM_001042432.2(CLN3):c.790+1G>A
NM_001042432.2(CLN3):c.790+1G>T
NM_001042432.2(CLN3):c.790+1del rs1555468374
NM_001042432.2(CLN3):c.790+2T>C rs1397197980
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.791-1G>A rs1057517350
NM_001042432.2(CLN3):c.791-2A>G
NM_001042432.2(CLN3):c.837+1G>T
NM_001042432.2(CLN3):c.838-3C>G
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
NM_001042432.2(CLN3):c.849del (p.Trp283fs)
NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001042432.2(CLN3):c.906+2T>G rs771788391
NM_001042432.2(CLN3):c.906+5G>A rs386833739
NM_001042432.2(CLN3):c.907-2A>G rs2141703433
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
NM_001042432.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.962+1G>A rs1057516267
NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter) rs2046112247
NM_001042432.2(CLN3):c.963-1G>T rs386833742
NM_001042432.2(CLN3):c.963-2A>C rs1418997146
NM_001042432.2(CLN3):c.963-2A>G rs1418997146
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) rs2046109345
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042603.3(KDM5A):c.1A>T (p.Met1Leu)
NM_001042603.3(KDM5A):c.4283G>T (p.Arg1428Leu)
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001042646.3(TRAK1):c.994A>G (p.Lys332Glu) rs2149441749
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter) rs1641565884
NM_001044.5(SLC6A3):c.1031+1G>A rs431905514
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
NM_001044.5(SLC6A3):c.1398+5G>A rs1756068240
NM_001044.5(SLC6A3):c.1767+2T>C rs2126324037
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.137-2A>G
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter) rs2105899200
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001045.6(SLC6A4):c.1745dup (p.Thr583fs) rs2143013401
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr) rs2113785077
NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu) rs1762593142
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr) rs1554122911
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val) rs1581496351
NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His) rs1762626709
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg) rs1064795334
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser) rs1064795249
NM_001069.3(TUBB2A):c.580G>A (p.Glu194Lys) rs1554122959
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His) rs1581499166
NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu)
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939
NM_001069.3(TUBB2A):c.875A>G (p.Gln292Arg)
NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu) rs2113785156
NM_001070.5(TUBG1):c.421A>C (p.Ile141Leu)
NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)
NM_001070.5(TUBG1):c.821C>A (p.Thr274Asn) rs1803693
NM_001077350.3(NPRL3):c.1031+2_1031+3del rs2141909104
NM_001077350.3(NPRL3):c.1161+1G>A
NM_001077350.3(NPRL3):c.118+1G>A
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.119-2A>G rs1361784389
NM_001077350.3(NPRL3):c.1217_1351+24delinsC rs2141901872
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs) rs1288771812
NM_001077350.3(NPRL3):c.1352-10_1368del
NM_001077350.3(NPRL3):c.1544+1del rs1898611246
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs) rs2141895084
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.319-1G>A
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter) rs1596522356
NM_001077350.3(NPRL3):c.547+1G>A rs1899864955
NM_001077350.3(NPRL3):c.547+1G>C rs1899864955
NM_001077350.3(NPRL3):c.547+2T>A
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
NM_001077350.3(NPRL3):c.591_629+634del rs1899713412
NM_001077350.3(NPRL3):c.629+1G>A rs2141946055
NM_001077350.3(NPRL3):c.629+1G>T rs2141946055
NM_001077350.3(NPRL3):c.630-1G>A rs1899235603
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
NM_001077350.3(NPRL3):c.768-1G>A
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077350.3(NPRL3):c.925-1G>C rs1898844907
NM_001077350.3(NPRL3):c.925-2A>G rs1431914212
NM_001077350.3(NPRL3):c.925-2A>T rs1431914212
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.439-33_538del
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) rs397514754
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter) rs1924000101
NM_001079872.2(CUL4B):c.1444-1G>A
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys) rs1556200641
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln) rs1556173896
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001080510.5(METTL23):c.126del (p.Lys42fs) rs2143866789
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter) rs2042188851
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs) rs2044336029
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr) rs2147667154
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser) rs2047665750
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His) rs2147617004
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg) rs2148016775
NM_001081550.2(THOC2):c.3503+4A>C rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs) rs1566003392
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.2520+5G>T rs754976942
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs) rs1973468140
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) rs1599375711
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys) rs1747667870
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu) rs1561273261
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001098621.4(LYSET):c.216dup (p.His73fs) rs1894051550
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) rs398122394
NM_001100913.3(PACS2):c.598G>A (p.Glu200Lys) rs1555408385
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.173C>T (p.Ala58Val) rs1784832575
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001110556.2(FLNA):c.1065+1G>T rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A rs2148118126
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C rs2067713488
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) rs2148119483
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val) rs2148107380
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.622+1G>A rs2148119316
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) rs2148104376
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.7023+1G>T rs2148102980
NM_001110556.2(FLNA):c.7333+1G>C rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del) rs2067597172
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
NM_001110556.2(FLNA):c.868+1G>A
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) rs267608558
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) rs1557135426
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) rs2148661474
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) rs1557135338
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) rs1557135929
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) rs1064792899
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs) rs1557135423
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) rs1557134779
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) rs2065917262
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) rs1557135346
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) rs267608606
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) rs267608610
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) rs1557135137
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) rs267608614
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) rs267608615
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) rs63749038
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) rs267608617
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) rs61754427
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs) rs1557134923
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs) rs63749065
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) rs1557134999
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter)
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) rs267608637
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) rs267608337
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) rs2065988707
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp) rs2148666907
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs) rs2148666767
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs) rs63749009
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) rs2066907057
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) rs267608449
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) rs61754453
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) rs63749010
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro) rs61754458
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) rs1057518718
NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr)
NM_001110792.2(MECP2):c.381del (p.Ser128fs) rs61755761
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) rs61755762
NM_001110792.2(MECP2):c.402_406dup (p.Leu136fs)
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val) rs2148666355
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile)
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys) rs267608469
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn)
NM_001110792.2(MECP2):c.445G>C (p.Glu149Gln)
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) rs267608475
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) rs267608476
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.487del (p.Asp163fs) rs61748402
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr)
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.506T>G (p.Phe169Cys)
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) rs267608482
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys) rs28934906
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg)
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) rs267608485
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.519del (p.Arg174fs) rs61748418
NM_001110792.2(MECP2):c.531del (p.Ser178fs) rs267608489
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) rs2148663951
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.605G>A (p.Arg202His) rs1557136818
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.63-5800_1271del
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) rs267608503
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) rs61754421
NM_001110792.2(MECP2):c.653del (p.Gly218fs) rs61749727
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter)
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) rs1557135125
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) rs1569548428
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) rs1557136549
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs)
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly) rs61749721
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.818del (p.Pro273fs)
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) rs267608526
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) rs61750242
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) rs1557135541
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) rs1557135197
NM_001110792.2(MECP2):c.890del (p.Lys297fs) rs267608531
NM_001110792.2(MECP2):c.900dup (p.Lys301fs) rs267608535
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) rs61750259
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) rs61751364
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) rs1557135907
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.934del (p.Val312fs) rs267608544
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr)
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) rs1057519543
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln) rs2065935636
NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[1]1152_1282del]
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) rs863224846
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met) rs1057519875
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val) rs387906589
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_001111125.3(IQSEC2):c.1401+2T>A
NM_001111125.3(IQSEC2):c.1402-124_1533del
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1655_1667dup (p.Pro557fs)
NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)
NM_001111125.3(IQSEC2):c.2297+2T>C rs2147096217
NM_001111125.3(IQSEC2):c.2460-2A>G rs1602279457
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser) rs2074335877
NM_001111125.3(IQSEC2):c.2551C>T (p.Gln851Ter)
NM_001111125.3(IQSEC2):c.2582+1del rs2074335019
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) rs1057518993
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
NM_001111125.3(IQSEC2):c.3005A>G (p.Asp1002Gly) rs2147049209
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del) rs2147015547
NM_001111125.3(IQSEC2):c.3451+1G>C
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly) rs2074117985
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=) rs2147010150
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs) rs2147000837
NM_001111125.3(IQSEC2):c.586_707+728del rs2146544783
NM_001111125.3(IQSEC2):c.738-1G>A
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs) rs2147127449
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs) rs2074458024
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp) rs756544748
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln) rs2100695149
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127178.3(PIGG):c.1114+2T>G
NM_001127178.3(PIGG):c.1332+1G>T rs779043705
NM_001127178.3(PIGG):c.1333-1G>A
NM_001127178.3(PIGG):c.154+2T>C
NM_001127178.3(PIGG):c.2069+1G>C rs2108969826
NM_001127178.3(PIGG):c.2069+2T>G
NM_001127178.3(PIGG):c.2778_2782del (p.Cys927fs)
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
NM_001127178.3(PIGG):c.759+2T>C rs1720189292
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) rs2145004155
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) rs2145004096
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) rs2144980726
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro) rs1233611505
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) rs2144956632
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) rs2144956340
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter) rs2144889289
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu) rs2144833336
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) rs2144767386
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg) rs2144748225
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln) rs2055835744
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) rs2144647872
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) rs2144936093
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) rs2144622461
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) rs2055612253
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5529-1215C>T rs2144616690
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.5529-1270A>G
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) rs2144523407
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) rs2059190701
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter) rs1008881855
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)
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.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
NM_001127222.2(CACNA1A):c.978+1G>C rs2145245078
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu) rs2113307162
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.476+2T>A rs2113381723
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys) rs2113293570
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile) rs1554086436
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe) rs1755061747
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr) rs796052491
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) rs796052492
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) rs1755063970
NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe) rs1173578471
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr) rs1755334003
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr) rs2123647622
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.354del (p.Val120fs) rs1926487809
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
NM_001127649.3(PEX26):c.372-2A>G
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
NM_001127649.3(PEX26):c.668-2A>G rs2123657331
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs) rs1926794975
NM_001127649.3(PEX26):c.814+1G>A
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
NM_001130438.3(SPTAN1):c.1086-2A>C rs2131028639
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
NM_001130438.3(SPTAN1):c.1572+1G>T
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val) rs2131193011
NM_001130438.3(SPTAN1):c.3007-2A>G
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
NM_001130438.3(SPTAN1):c.3520-2A>G
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu) rs1589311413
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln) rs1856289676
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu) rs2131682815
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys) rs2131744077
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp) rs1232614751
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp) rs2130975930
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val) rs2131965427
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg) rs1851359623
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del) rs2131985621
NM_001130438.3(SPTAN1):c.6690-17G>A rs1554767335
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del) rs2132088836
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.6959+1G>T
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7161-2_7174del rs2132105386
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) rs2145253354
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter) rs1555455521
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1008-2A>G rs2043686667
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter) rs2141482042
NM_001134407.3(GRIN2A):c.1123-1G>T rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln) rs2141369514
NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer) rs879253760
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1328+2T>C rs2042847630
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) rs1596494610
NM_001134407.3(GRIN2A):c.1329-1G>C
NM_001134407.3(GRIN2A):c.1329-2A>C rs2141346217
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs) rs2141346061
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>C rs2141344569
NM_001134407.3(GRIN2A):c.1497+5G>C rs2042665872
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys) rs747838255
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs) rs2141342590
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs) rs2141342580
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val) rs1085307961
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter) rs2141342254
NM_001134407.3(GRIN2A):c.1630G>A (p.Val544Ile) rs2141342055
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr) rs1057523843
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro) rs1057523843
NM_001134407.3(GRIN2A):c.1651+1del rs2141341804
NM_001134407.3(GRIN2A):c.1652-2A>G rs2141325752
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter) rs1057521810
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del) rs1057519248
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs) rs2141325598
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs) rs886039604
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) rs2050235998
NM_001134407.3(GRIN2A):c.1777+1G>C rs2141325180
NM_001134407.3(GRIN2A):c.1777+2T>C rs2141325169
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) rs2141313067
NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal) rs2042451238
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter) rs775819322
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln) rs2141312803
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1849G>A (p.Val617Met)
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp) rs2042448930
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met) rs796052562
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly) rs1555492763
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser) rs796052545
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val) rs2141312286
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile) rs2141312277
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2007+1G>A rs2141312109
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001134407.3(GRIN2A):c.2007+1del rs1596471698
NM_001134407.3(GRIN2A):c.2007+2dup rs2141312103
NM_001134407.3(GRIN2A):c.2008-1G>T rs2141295189
NM_001134407.3(GRIN2A):c.2008-2A>C
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala) rs796052547
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala) rs2141294973
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys) rs1445802934
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup) rs2141294782
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp) rs2042303226
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val) rs2141294795
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs) rs2141294703
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2147C>T (p.Ala716Val)
NM_001134407.3(GRIN2A):c.2168+1G>C rs2141294532
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs) rs2141230698
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu) rs1555488094
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs) rs2141230279
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs) rs2141230262
NM_001134407.3(GRIN2A):c.2356+1G>T rs2141230207
NM_001134407.3(GRIN2A):c.2357-2A>T
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter) rs1555483728
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter) rs1198247451
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs) rs2141151209
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg) rs1064795647
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met) rs752241086
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val) rs796052551
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg) rs1064796608
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val) rs751455326
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly) rs2142389389
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys) rs1321794341
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe) rs1596586969
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
NM_001134407.3(GRIN2A):c.3426del (p.Glu1143fs)
NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile) rs868762895
NM_001134407.3(GRIN2A):c.4067C>G (p.Ser1356Cys)
NM_001134407.3(GRIN2A):c.415-2A>G rs2141633312
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr) rs2141632937
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter) rs1555455776
NM_001134407.3(GRIN2A):c.546dup (p.Phe183fs) rs2141632418
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser) rs2141632382
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter) rs1555455726
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs) rs796052560
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg) rs2141631426
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter) rs2044763223
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val) rs2141631138
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs) rs2142390867
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001134673.4(NFIA):c.400del (p.Met133_Val134insTer)
NM_001134673.4(NFIA):c.739_740del (p.Ser247fs)
NM_001134673.4(NFIA):c.925G>T (p.Gly309Ter)
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671
NM_001135638.2(PIP5K1A):c.1114C>T (p.Arg372Ter)
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter) rs2145578013
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) rs751298016
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter) rs2019344087
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001136035.4(TRMT1):c.311-1G>A rs2019322057
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) rs2059194330
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
NM_001145073.3(USP27X):c.394G>T (p.Glu132Ter)
NM_001145073.3(USP27X):c.937T>G (p.Phe313Val)
NM_001145073.3(USP27X):c.954del (p.Lys318fs)
NM_001145250.2(SP9):c.1133A>C (p.Glu378Ala) rs2105510219
NM_001145250.2(SP9):c.1133A>G (p.Glu378Gly) rs2105510219
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs) rs2141486160
NM_001145358.2(SIN3A):c.1526+1G>T
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe) rs2073302769
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) rs1595897117
NM_001145358.2(SIN3A):c.2378T>C (p.Leu793Pro)
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs) rs1555443600
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs) rs2141415824
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs) rs2141396556
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001145358.2(SIN3A):c.366+5T>C
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001145358.2(SIN3A):c.474-1G>A
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter) rs1347764887
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala) rs863224885
NM_001161352.2(KCNMA1):c.1749+2T>C
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala) rs2094531972
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001161352.2(KCNMA1):c.2092+1G>A rs2090875352
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001161352.2(KCNMA1):c.3016+2T>C
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) rs2049489016
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile) rs2154251764
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)
NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) rs1553548096
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) rs121918753
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) rs2105868295
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser) rs2105867993
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala) rs121917923
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs) rs2105867534
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro) rs1698009615
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser) rs1553547448
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr) rs1698007004
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala) rs1697999557
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro) rs1697998959
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys) rs1697998080
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1171-1G>A
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) rs794726725
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del) rs2105862483
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn) rs398123581
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val) rs1697904829
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser) rs2105862220
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp) rs794726826
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) rs781507889
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) rs2105861548
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) rs2105851922
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) rs1553545740
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr) rs1684680680
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe) rs1697647054
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1663-3_1663-2del
NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly) rs1697479557
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs) rs1697433995
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs) rs1553544470
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) rs1553560740
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile) rs2105827770
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val) rs1697134047
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle) rs1697127484
NM_001165963.4(SCN1A):c.2415+1G>T
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn) rs1696888691
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) rs2105817051
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter) rs1553542262
NM_001165963.4(SCN1A):c.2589+1G>C
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.2589+3A>G rs794726775
NM_001165963.4(SCN1A):c.2590-3_2601del
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.264+1G>A
NM_001165963.4(SCN1A):c.264+1G>C rs1553560677
NM_001165963.4(SCN1A):c.264+3G>C rs746440689
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.265-2143G>A rs1574312497
NM_001165963.4(SCN1A):c.265-3C>G rs1553553614
NM_001165963.4(SCN1A):c.265del (p.Thr89fs) rs2105918665
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser) rs121918788
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly) rs121918788
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) rs794726718
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His) rs796052988
NM_001165963.4(SCN1A):c.2815del (p.His939fs)
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) rs2105806431
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln) rs121918786
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser) rs2105806212
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) rs1696619508
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile) rs1553541172
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly) rs1696618804
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp) rs922757507
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe) rs1553540503
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) rs121918756
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg) rs1696403356
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe) rs897883046
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe) rs1696401617
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro) rs1696400496
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) rs727504138
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys) rs1559195296
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) rs2105918428
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) rs794726793
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile) rs2105794473
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly) rs2105917940
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT rs2105611998
NM_001165963.4(SCN1A):c.3551-2A>T rs2105612020
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser) rs1559149128
NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro) rs1699353976
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) rs1692873873
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly) rs1692866593
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val) rs2105609833
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe) rs2105609699
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) rs750364705
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.383+5C>G rs1060502185
NM_001165963.4(SCN1A):c.384-12A>C rs1574291210
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr) rs1553531134
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala) rs1692543303
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) rs2105571418
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val) rs121918801
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr) rs121918803
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4003-4T>G
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro) rs1691091949
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr) rs1559128483
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe) rs1691082638
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) rs121918805
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro) rs2105509598
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val) rs865867764
NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile) rs1131691775
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) rs1553552378
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) rs1699149959
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser) rs1559127505
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val) rs373547836
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe) rs121917913
NM_001165963.4(SCN1A):c.4284+4A>C rs1691026372
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val) rs2105487145
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4338+616G>A rs1366966423
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg) rs121918631
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg) rs121917945
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) rs1573984593
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu) rs1690331819
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4475_4476+1del
NM_001165963.4(SCN1A):c.4476+5G>T rs1553522266
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4477-3T>A rs1690013843
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu) rs2105462778
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His) rs1690003122
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) rs121918764
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4563_4581+39del rs1559114202
NM_001165963.4(SCN1A):c.4581+18A>G rs1689981394
NM_001165963.4(SCN1A):c.4581+5G>C rs1559114303
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys) rs2105449347
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys) rs796053024
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly) rs1573964264
NM_001165963.4(SCN1A):c.471_473+6del
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs) rs2105448260
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro) rs2105447944
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) rs1698961617
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser) rs2105447216
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu) rs1689381070
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) rs1698960532
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu) rs2105435603
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)
NM_001165963.4(SCN1A):c.4880A>T (p.Lys1627Met)
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg) rs1689350809
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) rs1553520439
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser) rs1064794766
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) rs1553520425
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) rs121918765
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) rs796053031
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val) rs375651364
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro) rs2105433264
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp) rs2105432780
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr) rs1689298888
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys) rs1689298277
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser) rs1689294239
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys) rs2105432013
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) rs1689280236
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) rs1553520318
NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr) rs1689278461
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) rs1689278062
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg) rs1238612161
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) rs1689271992
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His) rs796053035
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) rs796053035
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr) rs528239871
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) rs2105430494
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) rs1573948129
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe) rs1573947939
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro) rs2105429381
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del) rs2105428012
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu) rs1689211960
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro) rs1689186812
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) rs1559245847
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) rs1553520029
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs) rs2105425236
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.566del (p.Pro189fs) rs1553551385
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly) rs1689142827
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) rs1553519865
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) rs1689139851
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly) rs1689136140
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val) rs1553551312
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) rs374555589
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) rs1698747852
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) rs796052961
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) rs1574271827
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) rs121917937
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_001165963.4(SCN1A):c.695-2A>G rs2105890879
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg) rs1574266328
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu) rs2105890375
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) rs1553549834
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro) rs2105890296
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro) rs1698602170
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val) rs2105889854
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) rs1559238215
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg) rs2105888708
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter) rs1698574524
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del) rs1553548194
NM_001165963.4(SCN1A):c.982del (p.Glu328fs) rs2105874493
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp) rs779184118
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) rs779184118
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) rs2105874284
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001171613.2(PREPL):c.1827+5G>A rs1672986669
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile) rs863224917
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro) rs2105822776
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys) rs1574511051
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) rs1574510975
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro) rs2105795469
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser) rs1688103993
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) rs1688103803
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
NM_001172509.2(SATB2):c.170-2A>G
NM_001172509.2(SATB2):c.1741-2A>C
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe) rs1692190479
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001172509.2(SATB2):c.473+1G>A
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.598-2A>G rs1574554519
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter) rs2105850080
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001172509.2(SATB2):c.700+1G>A
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
NM_001172509.2(SATB2):c.75del (p.Pro26fs) rs1574645416
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter) rs1688736712
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)
NM_001173976.2(TCTN1):c.1011-2_1012del
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
NM_001174150.2(ARL13B):c.59+1G>A
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.1318-1G>C rs1258470290
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly)
NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala)
NM_001182.5(ALDH7A1):c.1490-1G>A
NM_001182.5(ALDH7A1):c.1578_1582del (p.Tyr526_Lys528delinsTer)
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp) rs1581409051
NM_001182.5(ALDH7A1):c.247-1G>C rs1060502949
NM_001182.5(ALDH7A1):c.263_264del (p.Asp87_Tyr88insTer)
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr)
NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln) rs796052256
NM_001182.5(ALDH7A1):c.393+1G>A rs2112804344
NM_001182.5(ALDH7A1):c.394-1G>C rs1064794053
NM_001182.5(ALDH7A1):c.394-2A>G rs1450133957
NM_001182.5(ALDH7A1):c.39_192+517del
NM_001182.5(ALDH7A1):c.427G>C (p.Gly143Arg)
NM_001182.5(ALDH7A1):c.428G>C (p.Gly143Ala)
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001182.5(ALDH7A1):c.517+5G>A
NM_001182.5(ALDH7A1):c.518-14_518delinsCA
NM_001182.5(ALDH7A1):c.518-2A>G
NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile)
NM_001182.5(ALDH7A1):c.651-2A>G
NM_001182.5(ALDH7A1):c.697ATA[3] (p.Ile234_Ala235insIle)
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs) rs1373022366
NM_001182.5(ALDH7A1):c.774-2A>G
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001182.5(ALDH7A1):c.872-1G>T
NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp) rs1750388096
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) rs121912711
NM_001182.5(ALDH7A1):c.914-2A>C rs1581368665
NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile) rs2112768468
NM_001182.5(ALDH7A1):c.973A>G (p.Thr325Ala) rs2112768333
NM_001182.5(ALDH7A1):c.983A>G (p.Gln328Arg)
NM_001182.5(ALDH7A1):c.985A>T (p.Arg329Trp)
NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr)
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser) rs761295869
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr) rs796052839
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln) rs796052811
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly) rs1928395285
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs) rs2147538465
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His) rs748611349
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) rs2147537859
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr) rs1928365978
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) rs1928358562
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg) rs1928358562
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro) rs1928356260
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.2616+1G>A rs1602632270
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly) rs2147542320
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs) rs2147542293
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs) rs1924620442
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs) rs2147445956
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala) rs2147542056
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu) rs1555985687
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg) rs796052799
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala) rs1928459143
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly) rs2147541358
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro) rs1928446616
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter) rs1602637608
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) rs1928438552
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln) rs1602637340
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp) rs2147540748
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg) rs1928431321
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His) rs587784300
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter) rs766962106
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer) rs1928480582
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val) rs1459520904
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser) rs2147540049
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
NM_001190274.2(FBXO11):c.1120dup (p.Ile374fs) rs1672291261
NM_001190274.2(FBXO11):c.1261G>A (p.Gly421Arg) rs2104808289
NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
NM_001190274.2(FBXO11):c.1504A>C (p.Thr502Pro) rs2104739162
NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)
NM_001190274.2(FBXO11):c.1517A>G (p.Tyr506Cys) rs2104739095
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr) rs1572785471
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu) rs1671446564
NM_001190274.2(FBXO11):c.1645G>A (p.Gly549Arg) rs2104731942
NM_001190274.2(FBXO11):c.1648G>C (p.Gly550Arg) rs1671446124
NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)
NM_001190274.2(FBXO11):c.1733C>G (p.Thr578Arg) rs2104716435
NM_001190274.2(FBXO11):c.1781A>G (p.His594Arg) rs2104716081
NM_001190274.2(FBXO11):c.1783G>A (p.Gly595Ser) rs2104716065
NM_001190274.2(FBXO11):c.1830T>G (p.Asn610Lys) rs775765831
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup) rs977093129
NM_001190274.2(FBXO11):c.1920+2T>A rs1572776344
NM_001190274.2(FBXO11):c.1949A>C (p.His650Pro) rs2104702176
NM_001190274.2(FBXO11):c.1967A>G (p.Asn656Ser) rs2104702108
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg) rs1671184211
NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser) rs1670806923
NM_001190274.2(FBXO11):c.2060G>A (p.Gly687Asp) rs2104663941
NM_001190274.2(FBXO11):c.2074T>A (p.Tyr692Asn) rs2104663816
NM_001190274.2(FBXO11):c.2075A>T (p.Tyr692Phe) rs1670805547
NM_001190274.2(FBXO11):c.2084-93_2084-1del
NM_001190274.2(FBXO11):c.2125A>G (p.Met709Val) rs2104658407
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn) rs1572764737
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg) rs1572764698
NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter) rs2104657995
NM_001190274.2(FBXO11):c.2338+2T>C rs1670528197
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr) rs1670371887
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2729A>T (p.Asp910Val) rs1670355281
NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
NM_001190274.2(FBXO11):c.37C>T (p.Arg13Ter) rs1233367010
NM_001190274.2(FBXO11):c.404A>G (p.Lys135Arg) rs2104860667
NM_001190274.2(FBXO11):c.412A>G (p.Arg138Gly) rs2104860646
NM_001190274.2(FBXO11):c.554G>A (p.Arg185His) rs2104856077
NM_001190274.2(FBXO11):c.606A>C (p.Glu202Asp) rs2104832921
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys) rs1672530798
NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter) rs757821091
NM_001191061.2(SLC25A22):c.202+1G>A rs1287249801
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001191061.2(SLC25A22):c.568_587+6del rs2133700632
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001197104.2(KMT2A):c.10835+1G>A
NM_001197104.2(KMT2A):c.4012+1del rs1950143446
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe) rs1950562472
NM_001198533.2(OXR1):c.1324del (p.Ser442fs) rs1587174948
NM_001198533.2(OXR1):c.2317-1G>C rs1333855063
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter) rs2065788445
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) rs1565532385
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg) rs2102063243
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp) rs1361083258
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr) rs2102499747
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4004A>T (p.Asp1335Val) rs1658058398
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe) rs2102689621
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn) rs2102689660
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg) rs1553345844
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly) rs2102795834
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro) rs1553286282
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001220.5(CAMK2B):c.601+1G>A
NM_001220.5(CAMK2B):c.696+1G>A rs780130215
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter) rs1554434435
NM_001220.5(CAMK2B):c.863_864del (p.Val288fs)
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup) rs2096680726
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1081+2T>G rs1601970824
NM_001242896.3(DEPDC5):c.1143+1G>A rs2148649751
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242896.3(DEPDC5):c.1287+1G>A
NM_001242896.3(DEPDC5):c.1324+1G>A rs2088011240
NM_001242896.3(DEPDC5):c.1324+1G>T rs2088011240
NM_001242896.3(DEPDC5):c.1325-1G>A rs1555882867
NM_001242896.3(DEPDC5):c.1325-1G>C rs1555882867
NM_001242896.3(DEPDC5):c.1325-2A>G rs2148707066
NM_001242896.3(DEPDC5):c.1325-2_1360del
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs) rs2088167973
NM_001242896.3(DEPDC5):c.1445+1G>A
NM_001242896.3(DEPDC5):c.1446-1G>T rs1555885023
NM_001242896.3(DEPDC5):c.147-1G>C
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro) rs2089433234
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs) rs2148801285
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs) rs2148801432
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001242896.3(DEPDC5):c.194-1G>C rs2148102743
NM_001242896.3(DEPDC5):c.1981_2104+678del
NM_001242896.3(DEPDC5):c.2170+1G>A rs2148924638
NM_001242896.3(DEPDC5):c.2233_2355-686del rs2148952714
NM_001242896.3(DEPDC5):c.2354+2T>A rs2148953712
NM_001242896.3(DEPDC5):c.2515+2T>G
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.2634-2A>G rs2149008450
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs) rs1569083500
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
NM_001242896.3(DEPDC5):c.280-4_282del
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
NM_001242896.3(DEPDC5):c.3021+1G>A rs2091657024
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del) rs2092817019
NM_001242896.3(DEPDC5):c.3485+1G>A
NM_001242896.3(DEPDC5):c.3485+1G>T rs2149231722
NM_001242896.3(DEPDC5):c.3486-1G>C
NM_001242896.3(DEPDC5):c.3486-1G>T
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
NM_001242896.3(DEPDC5):c.3563+1G>A rs1261611694
NM_001242896.3(DEPDC5):c.3563+1G>C rs1261611694
NM_001242896.3(DEPDC5):c.363+1G>A rs2082845191
NM_001242896.3(DEPDC5):c.363+1G>C
NM_001242896.3(DEPDC5):c.364-1G>A rs2083056830
NM_001242896.3(DEPDC5):c.3696+1G>A
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter) rs1309166815
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
NM_001242896.3(DEPDC5):c.413+1G>A
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs) rs1339126434
NM_001242896.3(DEPDC5):c.4203+1G>C rs945102665
NM_001242896.3(DEPDC5):c.4204-1G>A
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
NM_001242896.3(DEPDC5):c.4436+1G>A rs2149419886
NM_001242896.3(DEPDC5):c.483+1G>A rs2084070588
NM_001242896.3(DEPDC5):c.483+2T>C
NM_001242896.3(DEPDC5):c.484-2A>T
NM_001242896.3(DEPDC5):c.58+1G>A
NM_001242896.3(DEPDC5):c.58+2T>C
NM_001242896.3(DEPDC5):c.59-2A>G
NM_001242896.3(DEPDC5):c.625-2A>G rs1400868304
NM_001242896.3(DEPDC5):c.694+1G>A rs1601875057
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.767+2T>C
NM_001242896.3(DEPDC5):c.768-2A>G rs2086393945
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
NM_001242896.3(DEPDC5):c.871+1G>T rs1556607762
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437
NM_001244008.2(KIF1A):c.1037+1G>C rs2125976529
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn) rs2056551129
NM_001244008.2(KIF1A):c.1208-2A>C
NM_001244008.2(KIF1A):c.1421+2T>A rs751051049
NM_001244008.2(KIF1A):c.1578-2A>G rs2125925871
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp) rs672601362
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His) rs1553633823
NM_001244008.2(KIF1A):c.2116+1G>C rs1553633687
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp) rs672601363
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu) rs1575654528
NM_001244008.2(KIF1A):c.3374+2T>G rs2125791006
NM_001244008.2(KIF1A):c.3465+1G>A
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro) rs2055064647
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.3901+415C>T
NM_001244008.2(KIF1A):c.3901+498del
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr) rs2056558371
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu) rs879253976
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe) rs672601364
NM_001244008.2(KIF1A):c.4319-2A>G rs1559477798
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp) rs2054763570
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr) rs1553638655
NM_001244008.2(KIF1A):c.4868+1G>C rs1553624714
NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr) rs876661168
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe) rs2054752278
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.609-1G>A rs1559527796
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr) rs2054549834
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln) rs672601371
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser) rs2054374864
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp) rs1559526692
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp) rs762126771
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly) rs879253888
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys) rs1553638086
NM_001244008.2(KIF1A):c.798+1G>A rs1064796565
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe) rs2056552812
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser) rs2126049991
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro) rs1131692159
NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg) rs2054277617
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro) rs1064793161
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001244008.2(KIF1A):c.958+1G>C rs780380861
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro) rs2052422975
NM_001244189.1(KIAA0586):c.2602_2612del11
NM_001252024.2(TRPM1):c.1623+1G>A rs2033825467
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly) rs2144460572
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn) rs1555675538
NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr)
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) rs1599150380
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg) rs2079442813
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) rs797045187
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) rs1568149971
NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu)
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter) rs546643996
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter) rs1219237924
NM_001256864.2(DNAJC6):c.666+1G>A
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro) rs1563453866
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs) rs1563452322
NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs) rs2131227624
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1795-1G>A rs1563431044
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu) rs2130905407
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser) rs1563497719
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp) rs1563497714
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs) rs1563498184
NM_001257180.2(SLC20A2):c.290-1G>A rs2131192653
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs) rs1563490467
NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp) rs1772040461
NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter) rs2154199961
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1053-2A>C
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter) rs2053431254
NM_001271.4(CHD2):c.1151_1153+4del rs2053431516
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1198+2T>C
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.1503-2A>G
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1809+1G>A rs1057520592
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro) rs2141816539
NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys) rs2053619460
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile) rs2053619599
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr) rs2141836224
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu) rs2141843225
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
NM_001271.4(CHD2):c.2809C>G (p.His937Asp) rs1596429174
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro) rs2053946404
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly)
NM_001271.4(CHD2):c.2876+1G>T
NM_001271.4(CHD2):c.294+1G>T
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer) rs1064796496
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp) rs2141850669
NM_001271.4(CHD2):c.3237+1G>A
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
NM_001271.4(CHD2):c.3414-2A>G
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe) rs2141861661
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs) rs2054197493
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.381+1G>A rs2053081680
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu) rs2141867671
NM_001271.4(CHD2):c.3886-1G>C
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4009-2A>G
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001271.4(CHD2):c.4137+2T>C
NM_001271.4(CHD2):c.4137+3A>G
NM_001271.4(CHD2):c.4138-1G>A rs2054265721
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4278+1G>A rs2141873750
NM_001271.4(CHD2):c.4414-2A>G rs2141881521
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4560del (p.Ser1521fs) rs2054360719
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4906+1G>T rs2141888378
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.693-1G>A rs2053387699
NM_001271.4(CHD2):c.693-3C>A rs2141785016
NM_001271.4(CHD2):c.789dup (p.Glu264Ter) rs2053388293
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter) rs1555439545
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) rs1057518042
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs) rs1933972061
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) rs2064782292
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) rs2148495027
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro) rs2064692485
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001278464.2(DNM1L):c.254del (p.Pro85fs)
NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) rs1596183293
NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter) rs2151441655
NM_001278512.2(AP3B2):c.66C>G (p.Tyr22Ter) rs1304104449
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) rs1481189891
NM_001282531.3(ADNP):c.-89-3923_201+2793inv
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs) rs1981065982
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) rs1600932676
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs) rs2122753883
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001282531.3(ADNP):c.1717del (p.Asp573fs) rs1555810193
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs) rs2122747616
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs) rs1980913274
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) rs1600930164
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs) rs2122746369
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs) rs1980878343
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter) rs1221864735
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) rs1980763449
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001282531.3(ADNP):c.321del (p.Asn108fs) rs2122764752
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
NM_001282531.3(ADNP):c.64dup (p.Ile22fs) rs1982229334
NM_001282531.3(ADNP):c.709del (p.Val237fs) rs1981116316
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)
NM_001282597.3(CTNNA2):c.718del (p.Arg240fs)
NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu) rs1227643933
NM_001289080.2(CNTN6):c.1492+1G>T
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg) rs2052983721
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
NM_001303052.2(MYT1L):c.1538G>T (p.Gly513Val) rs2149071963
NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser)
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro) rs1057519560
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn) rs2052976421
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu) rs753426087
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1618_1618+1delinsC
NM_001303052.2(MYT1L):c.1670G>T (p.Gly557Val)
NM_001303052.2(MYT1L):c.1672C>T (p.Arg558Cys) rs2052089346
NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr) rs1558371790
NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser) rs1573501865
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg) rs1330054460
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu) rs2051764612
NM_001303052.2(MYT1L):c.1733C>T (p.Ala578Val) rs1573483715
NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer)
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001303052.2(MYT1L):c.2274C>A (p.Cys758Ter)
NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs) rs2148852029
NM_001303052.2(MYT1L):c.2519_2520+3del
NM_001303052.2(MYT1L):c.2838del (p.Glu947fs)
NM_001303052.2(MYT1L):c.557dup (p.Asp187fs) rs2149110899
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp) rs2053776375
NM_001318510.2(ACSL4):c.1072_1073del (p.Leu358fs)
NM_001318510.2(ACSL4):c.1653_1654insT (p.Lys552Ter) rs2147391497
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly) rs1603401125
NM_001318510.2(ACSL4):c.257del (p.Asn86fs)
NM_001318510.2(ACSL4):c.473C>A (p.Ser158Tyr) rs1924147806
NM_001320.7(CSNK2B):c.72+1G>T
NM_001320.7(CSNK2B):c.72+2T>G rs2151182244
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001321075.3(DLG4):c.1084-1G>T rs2142844164
NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)
NM_001321075.3(DLG4):c.1478+2T>C rs542036630
NM_001321075.3(DLG4):c.1479-2A>G rs2142828286
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter) rs1567528092
NM_001321075.3(DLG4):c.1490del (p.Arg497fs)
NM_001321075.3(DLG4):c.1543+2T>C rs1597444614
NM_001321075.3(DLG4):c.1592-1G>A rs2142825829
NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu) rs2142825745
NM_001321075.3(DLG4):c.1693+1G>A rs2142825211
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile) rs2142821651
NM_001321075.3(DLG4):c.1866+2T>C rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) rs1451196379
NM_001321075.3(DLG4):c.210+1G>T rs2070315709
NM_001321075.3(DLG4):c.210+2del
NM_001321075.3(DLG4):c.211-2A>G rs2142886707
NM_001321075.3(DLG4):c.505+1G>T
NM_001321075.3(DLG4):c.506-2A>G
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val) rs2142884288
NM_001321075.3(DLG4):c.642G>A (p.Ala214=) rs2142883774
NM_001321075.3(DLG4):c.643-1G>T
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
NM_001321075.3(DLG4):c.787+2T>C rs2142881946
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln) rs2147132235
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly) rs1924899673
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.146-2A>C rs2147139522
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs) rs2147160942
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2047-2A>C rs1926471092
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp) rs2147139669
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.2626A>G (p.Ile876Val)
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp) rs1925423909
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
NM_001323289.2(CDKL5):c.404-1G>C
NM_001323289.2(CDKL5):c.404-2_412del rs2147143992
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met) rs1310022305
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys) rs1925492808
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.464-1G>C rs786204986
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr) rs1064794734
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.554+2T>C
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser) rs267608418
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn) rs2147148013
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_001323289.2(CDKL5):c.601del (p.Glu203fs) rs1925697105
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly) rs1925697823
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg) rs2147148092
NM_001323289.2(CDKL5):c.64+2T>G
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg) rs1922607139
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala) rs1602232972
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.825+1G>C
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.826-14_835del
NM_001323289.2(CDKL5):c.826-1G>A rs587783149
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly) rs1926078505
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.99+1G>C rs267608421
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001324418.2(ADAM22):c.1981dup (p.Met661fs) rs1842129329
NM_001329943.3(KIAA0586):c.-29A>C rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val) rs2138742488
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr) rs1941714399
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu) rs1941714576
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His) rs2138748186
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala) rs2138748239
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro) rs878854973
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro) rs1592392873
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) rs1942779292
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg) rs878854974
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp) rs886043686
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) rs1942828881
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro) rs879255702
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.276+1G>A
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe) rs774522197
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys) rs1555225835
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly) rs1592149906
NM_001330260.2(SCN8A):c.2901+1G>C rs1942832440
NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val) rs1565917697
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val) rs2138868851
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp) rs1430513260
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3942+1G>T rs2138892902
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) rs794727361
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro) rs2138904112
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr) rs1938093232
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe) rs2138904598
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu) rs1555228668
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr) rs2138908345
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys) rs2138909536
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr) rs2138909658
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn) rs1938178701
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg) rs1555228771
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter) rs1057520149
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn) rs1938702028
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val) rs1938703803
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser) rs879255709
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp) rs796053224
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val) rs1938712937
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg) rs1938713472
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) rs1938714598
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) rs1131691830
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu) rs1938721157
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg) rs2138944020
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val) rs2138944124
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu) rs796053233
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile) rs1941650264
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630
NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr) rs1941650760
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) rs878853250
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys) rs2138735794
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
NM_001330260.2(SCN8A):c.929-2A>G
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly) rs1592389210
NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs) rs1555974716
NM_001330574.2(ZNF711):c.2217del (p.Lys739fs)
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) rs1060505033
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs) rs1555970404
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr) rs886039770
NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr) rs747574524
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs) rs2148619635
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro) rs724159951
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347721.2(DYRK1A):c.1072-1G>A
NM_001347721.2(DYRK1A):c.1072-2A>T rs2053260627
NM_001347721.2(DYRK1A):c.1072del
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His) rs202011970
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
NM_001347721.2(DYRK1A):c.301-2A>C
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs) rs2052612564
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val) rs1064796406
NM_001347721.2(DYRK1A):c.490-1G>C
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly) rs1131691866
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile) rs797044524
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del) rs2052872878
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)
NM_001347721.2(DYRK1A):c.637+2_637+13del
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.638-6T>C rs2148612226
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr) rs2148612925
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg) rs2148613074
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001347721.2(DYRK1A):c.924+1G>A rs2148613196
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.925-1G>C rs2148619382
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs) rs2148619406
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys) rs1555985554
NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)
NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs)
NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter)
NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter) rs2043168875
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) rs2042881907
NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs) rs2041937196
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
NM_001348323.3(TRIP12):c.4838+2T>G rs2040714903
NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp) rs1320218400
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) rs2154255374
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) rs1468657712
NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs) rs2154245501
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs) rs2108202536
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs) rs1576288424
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr) rs2117129739
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His) rs1576028676
NM_001349338.3(FOXP1):c.1078_1079del (p.Glu360fs)
NM_001349338.3(FOXP1):c.1103dup (p.His368fs) rs2040036225
NM_001349338.3(FOXP1):c.1146+1G>C rs1559650552
NM_001349338.3(FOXP1):c.1147-2A>G rs1559621862
NM_001349338.3(FOXP1):c.1201C>T (p.Gln401Ter) rs1234028937
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1267_1268del (p.Val423fs) rs786200948
NM_001349338.3(FOXP1):c.1348+2T>C rs1057518999
NM_001349338.3(FOXP1):c.1349-1G>A
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly) rs869025202
NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala) rs1057518926
NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile) rs2037853932
NM_001349338.3(FOXP1):c.1427A>C (p.Gln476Pro) rs2107310071
NM_001349338.3(FOXP1):c.1429-13_1429-3del rs1559617016
NM_001349338.3(FOXP1):c.1429-1G>A
NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)
NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs) rs2037704254
NM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys) rs2037702385
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu) rs1057524152
NM_001349338.3(FOXP1):c.1534dup (p.Ala512fs) rs2107201851
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1541G>C (p.Arg514Pro) rs797045586
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg) rs2036511353
NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg) rs1575757812
NM_001349338.3(FOXP1):c.1552dup (p.Ser518fs)
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.1652+5G>C rs794727216
NM_001349338.3(FOXP1):c.1722+5G>C
NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)
NM_001349338.3(FOXP1):c.427del (p.Leu143fs)
NM_001349338.3(FOXP1):c.484C>T (p.Gln162Ter) rs2107113697
NM_001349338.3(FOXP1):c.659dup (p.Gln221fs) rs2049106504
NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr) rs2106869182
NM_001349338.3(FOXP1):c.910G>T (p.Gly304Ter)
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly) rs2126497313
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.1561-2A>G rs2136254229
NM_001351132.2(PEX5):c.317-2A>G rs2135903939
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.846+1G>A
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.966+1G>C rs2136176386
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) rs1481968221
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) rs2066894484
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu) rs1198548955
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1621-1G>C rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter) rs2065045000
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter) rs148814769
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter) rs2065038117
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter) rs973578825
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter) rs2090069178
NM_001352514.2(HLCS):c.1960+1G>A rs2090068896
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter) rs1324486146
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter) rs2089755918
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del rs2145732111
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-2A>T
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter) rs2066942076
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter) rs779907293
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter) rs760029192
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys) rs1595460164
NM_001353345.2(SETD1B):c.1526_1527del (p.Glu509fs) rs1592977444
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.30+1G>A
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) rs2052539418
NM_001353921.2(ARHGEF9):c.402+1G>A rs2052538764
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) rs2066265350
NM_001356.5(DDX3X):c.103+6T>G rs2147340616
NM_001356.5(DDX3X):c.1045G>A (p.Ala349Thr)
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
NM_001356.5(DDX3X):c.1171-2A>C rs2147356545
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro) rs796052232
NM_001356.5(DDX3X):c.1177G>C (p.Ala393Pro)
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup) rs1602134468
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)
NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu) rs2147356661
NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)
NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro) rs2063911698
NM_001356.5(DDX3X):c.1315+1G>A rs2063911832
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu) rs2063922414
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg) rs2063923221
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly) rs1064796827
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro) rs2063923789
NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.1466C>G (p.Ser489Ter)
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp) rs2063928003
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter) rs766409654
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu) rs2147359928
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter) rs61755357
NM_001356.5(DDX3X):c.543+3_543+6del rs2063869050
NM_001356.5(DDX3X):c.544-8_544-6del rs2063875026
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val) rs2063875155
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.765+2T>G rs2147352999
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.833dup (p.Leu278fs) rs1602131872
NM_001356.5(DDX3X):c.864+2T>G
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.887G>A (p.Arg296His)
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro) rs1602132216
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser) rs875989802
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
NM_001365536.1(SCN9A):c.1314+1G>A
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.1602+1G>A rs2106486889
NM_001365536.1(SCN9A):c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC
NM_001365536.1(SCN9A):c.2344-2A>G rs1697328487
NM_001365536.1(SCN9A):c.2518-1G>T rs2106469561
NM_001365536.1(SCN9A):c.258+2T>C
NM_001365536.1(SCN9A):c.2875-1G>A
NM_001365536.1(SCN9A):c.3351+2T>G
NM_001365536.1(SCN9A):c.3427G>C (p.Ala1143Pro)
NM_001365536.1(SCN9A):c.3628-1G>A
NM_001365536.1(SCN9A):c.3796_3801+23del rs1471163637
NM_001365536.1(SCN9A):c.3924+1G>C rs2106395478
NM_001365536.1(SCN9A):c.3925-2A>G rs532631248
NM_001365536.1(SCN9A):c.4398+2T>C rs2106383164
NM_001365536.1(SCN9A):c.4399-1C>T rs1283839545
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) rs121908914
NM_001365536.1(SCN9A):c.4503+1G>A rs746241591
NM_001365536.1(SCN9A):c.468-1G>C
NM_001365536.1(SCN9A):c.468-1G>T
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala) rs1060502047
NM_001365536.1(SCN9A):c.596+1G>T rs201560701
NM_001365536.1(SCN9A):c.596+1del
NM_001365536.1(SCN9A):c.965+1G>T rs1698219355
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro) rs2013246660
NM_001365902.3(NFIX):c.477dup (p.Gly160fs) rs2013265950
NM_001365999.1(SZT2):c.1091-1G>A rs1652173183
NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs)
NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter)
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001365999.1(SZT2):c.4699del (p.Leu1567fs)
NM_001365999.1(SZT2):c.498G>T (p.Gln166His) rs1553138869
NM_001365999.1(SZT2):c.5088+2T>C rs552956642
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001365999.1(SZT2):c.7070T>A (p.Leu2357Ter)
NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter) rs200178393
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs) rs2136050284
NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)
NM_001366521.1(ATP2B1):c.406+1G>A
NM_001367534.1(CAMK2G):c.676A>G (p.Ile226Val)
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs) rs2134277165
NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.1519+1G>A
NM_001367561.1(DOCK7):c.2200-2A>G
NM_001367561.1(DOCK7):c.2431+1G>A
NM_001367561.1(DOCK7):c.2432-2A>C rs760580647
NM_001367561.1(DOCK7):c.2596+1G>C
NM_001367561.1(DOCK7):c.2767-1G>A rs1645656856
NM_001367561.1(DOCK7):c.2949+2T>C
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg) rs1645575152
NM_001367561.1(DOCK7):c.3187-31_3274del rs2149393215
NM_001367561.1(DOCK7):c.4924-1G>A rs2149301822
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) rs1571266478
NM_001367561.1(DOCK7):c.5493+1G>T
NM_001367561.1(DOCK7):c.5724+1G>A rs2149260122
NM_001367561.1(DOCK7):c.5724+1G>T
NM_001367561.1(DOCK7):c.5725-2A>G
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
NM_001367721.1(CASK):c.1582+1G>A rs2147179060
NM_001367721.1(CASK):c.1583-1G>T
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_001367721.1(CASK):c.173-1G>A
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001367721.1(CASK):c.2155+1G>C rs1555977199
NM_001367721.1(CASK):c.2155G>A (p.Val719Met) rs12842195
NM_001367721.1(CASK):c.2156-1G>A rs1569291261
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs) rs1569288603
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) rs1569283243
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
NM_001367721.1(CASK):c.356+1G>T rs2147736023
NM_001367721.1(CASK):c.359A>G (p.His120Arg) rs1602550687
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu) rs2147495667
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg) rs2067197219
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter) rs2147495562
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter) rs2067016221
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001367721.1(CASK):c.875_877del (p.Val292del) rs2066559023
NM_001367721.1(CASK):c.915+1G>A rs2147368049
NM_001368397.1(FRMPD4):c.1071-1G>A
NM_001368397.1(FRMPD4):c.1151C>A (p.Ser384Ter) rs2147144421
NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs) rs2041898606
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001368397.1(FRMPD4):c.3024dup (p.Asp1009Ter)
NM_001368397.1(FRMPD4):c.3258del (p.Arg1087fs)
NM_001368397.1(FRMPD4):c.561del (p.Asn187fs)
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-17+1G>C rs1057516440
NM_001370658.1(BTD):c.-17+1G>T rs1057516440
NM_001370658.1(BTD):c.-17+1del rs1057517114
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) rs2065662435
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs796051941
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.270del (p.Pro91fs)
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del) rs1575029290
NM_001370658.1(BTD):c.52del (p.Val18fs)
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val) rs1760985866
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
NM_001371727.1(GABRB2):c.242A>G (p.Tyr81Cys)
NM_001371727.1(GABRB2):c.627G>T (p.Gln209His) rs2113408165
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu) rs2113408096
NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr) rs869312861
NM_001371727.1(GABRB2):c.754C>T (p.Pro252Ser) rs869312861
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
NM_001371727.1(GABRB2):c.857C>T (p.Thr286Ile) rs1753824585
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile) rs1753824440
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr) rs1064795444
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val) rs1580984895
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His) rs2113397784
NM_001371727.1(GABRB2):c.904G>A (p.Val302Met) rs1085307993
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr) rs1753822503
NM_001371727.1(GABRB2):c.929T>C (p.Met310Thr)
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile) rs1554093884
NM_001371727.1(GABRB2):c.986T>A (p.Ile329Asn) rs1753821661
NM_001371928.1(AHDC1):c.1080_1111del (p.Glu361fs)
NM_001371928.1(AHDC1):c.1140del (p.Lys381fs)
NM_001371928.1(AHDC1):c.1433del (p.Met478fs) rs2019490062
NM_001371928.1(AHDC1):c.1757_1758del (p.Lys586fs) rs1064797043
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)
NM_001371928.1(AHDC1):c.2772del (p.Arg925fs) rs2019386507
NM_001371928.1(AHDC1):c.3025C>G (p.Pro1009Ala)
NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs) rs2019359088
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer) rs1553158517
NM_001371928.1(AHDC1):c.3898C>T (p.Gln1300Ter) rs2148263628
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.519_520delinsC (p.Leu173fs)
NM_001371928.1(AHDC1):c.932del (p.Gly311fs) rs1553159764
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220
NM_001371986.1(UNC80):c.565G>A (p.Val189Met) rs864321623
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter) rs377573165
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs) rs1778944605
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
NM_001374828.1(ARID1B):c.1987-29742G>A rs1554261846
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) rs773640553
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs) rs2128210949
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser) rs1057518045
NM_001374828.1(ARID1B):c.2582-2A>C rs1057524160
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp) rs1057518648
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer) rs2128634579
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs) rs1131692263
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs) rs1792478147
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs) rs2128317569
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter) rs1583469292
NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs) rs1057518918
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs) rs2128325428
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4232-1G>A
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter) rs1554234402
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter) rs797045278
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs) rs2128374043
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter) rs1064793482
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_001374828.1(ARID1B):c.5394+3A>C rs1794283740
NM_001374828.1(ARID1B):c.5395-1G>A
NM_001374828.1(ARID1B):c.5395-2A>C rs1562350940
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs) rs2128391037
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs) rs2128392250
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.578_589del (p.Leu193_Phe196del) rs1778806787
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter) rs1451259945
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys) rs1369594791
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs) rs2128393700
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr) rs1583516082
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro) rs1794550318
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs) rs1562354784
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs) rs2128398868
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter) rs758120346
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter) rs1259041590
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu) rs1555411378
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro) rs1555411394
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu) rs1595629181
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu) rs2152594747
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys) rs2152596521
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His) rs770451110
NM_001376.5(DYNC1H1):c.2327delinsGGGT (p.Pro776delinsArgVal)
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys) rs2047950288
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA rs2141276717
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg) rs2047998539
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) rs2048038246
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys) rs1047509819
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu)
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr) rs1595609005
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001376.5(DYNC1H1):c.4700G>T (p.Arg1567Leu) rs797044901
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)
NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)
NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His) rs1236304133
NM_001376.5(DYNC1H1):c.7145_7148dup (p.Ser2384fs) rs2152581547
NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter) rs2048322542
NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser) rs2152589131
NM_001376.5(DYNC1H1):c.9209C>T (p.Pro3070Leu) rs2152589194
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs) rs2152590132
NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys) rs2152590264
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305
NM_001378120.1(MBD5):c.1119del (p.Val374fs) rs1680695228
NM_001378120.1(MBD5):c.114-2A>T rs1574451881
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp) rs1393532031
NM_001378120.1(MBD5):c.5037-2A>G
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) rs1029755113
NM_001378120.1(MBD5):c.936dup (p.Pro313fs) rs2105627349
NM_001378418.1(TCF20):c.5725C>T (p.His1909Tyr) rs1569110700
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly) rs2093873717
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys) rs2125193560
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro) rs2125272771
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile) rs1002376493
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) rs2125159664
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu) rs2125159710
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) rs869312685
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile) rs863224882
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs) rs2135678282
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs) rs1956840371
NM_001378778.1(MPDZ):c.1690G>T (p.Gly564Ter)
NM_001378778.1(MPDZ):c.2649+1G>A
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter) rs1951349487
NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs) rs751161649
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs) rs1586841546
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1076G>T (p.Trp359Leu) rs1571939623
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) rs777183510
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) rs2101997230
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) rs1674966041
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228
NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala) rs1580752093
NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)
NM_001379110.1(SLC9A6):c.1662-19_1662-3del rs1569525894
NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs) rs2145499914
NM_001379291.1(BRD4):c.703C>T (p.Gln235Ter)
NM_001379291.1(BRD4):c.710_711del (p.Pro237fs) rs2047523428
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys) rs1464137864
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T rs2129547115
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.2129-2A>G rs2129559034
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) rs2129561783
NM_001382391.1(CSPP1):c.3110-1G>A rs1064795687
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3330+1G>C rs1045070965
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-2A>G rs1836992042
NM_001382391.1(CSPP1):c.483+2T>A
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245
NM_001384732.1(CPLANE1):c.1122-2A>G
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs) rs926409425
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
NM_001384732.1(CPLANE1):c.7234-2_7234del
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu) rs2069582666
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter) rs2153082059
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) rs1725580386
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) rs1725671165
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) rs1486643983
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) rs1725702758
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) rs1725826321
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) rs1725886004
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) rs1725953201
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) rs1725996321
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) rs1726001209
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) rs1726166189
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) rs1725178752
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) rs1725413862
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) rs1283854712
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) rs1725516307
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
NM_001386298.1(CIC):c.1026dup (p.Trp343fs)
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter) rs2147018633
NM_001386298.1(CIC):c.1631del (p.Gly544fs)
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser) rs2037753806
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter) rs747706524
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter) rs752780532
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter) rs1951071576
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) rs2048464266
NM_001394998.1(TANC2):c.3765+1G>T rs2048707664
NM_001394998.1(TANC2):c.4080del (p.Glu1361fs) rs2048834387
NM_001394998.1(TANC2):c.4701del (p.Gln1567fs) rs2048990416
NM_001394998.1(TANC2):c.769+1G>A rs1419550439
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) rs1602041478
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val) rs2147128410
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.2132-1G>A rs2145734002
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.2998-3_2998-2del rs2145740556
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer) rs2059050708
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3671+5G>C
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp) rs2145515250
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro) rs2145516079
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser) rs1379274045
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs) rs2059210417
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs) rs2059211409
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)
NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)
NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)
NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)
NM_001482.3(GATM):c.1043-1G>C
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp) rs1244824806
NM_001482.3(GATM):c.1238G>A (p.Arg413Gln)
NM_001482.3(GATM):c.216G>A (p.Trp72Ter) rs1566842679
NM_001482.3(GATM):c.288+2_288+11del
NM_001482.3(GATM):c.289-1_292del
NM_001482.3(GATM):c.553G>C (p.Ala185Pro) rs2140644920
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser) rs397514709
NM_001482.3(GATM):c.676-1G>C
NM_001482.3(GATM):c.69+1G>A
NM_001482.3(GATM):c.70-2A>C
NM_001482.3(GATM):c.959del (p.Pro320fs) rs1889443484
NM_001482.3(GATM):c.979-1_979insT
NM_001493.3(GDI1):c.45+1G>A rs2148226455
NM_001493.3(GDI1):c.671A>G (p.Tyr224Cys)
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter) rs2148228335
NM_001493.3(GDI1):c.706del (p.Gln236fs)
NM_001493.3(GDI1):c.788del (p.Gly263fs) rs2068750338
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter) rs1579319300
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr) rs2152156655
NM_001605.3(AARS1):c.1897del (p.Arg633fs) rs2152154412
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser) rs1555539157
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr) rs1555661648
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
NM_001659.3(ARF3):c.34C>G (p.Leu12Val)
NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr) rs1559759089
NM_001690.4(ATP6V1A):c.1649T>C (p.Met550Thr) rs1709263798
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)
NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro) rs2108033397
NM_001744.6(CAMK4):c.981+1G>A rs1561515242
NM_001752.4(CAT):c.1056+1G>C
NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001759.4(CCND2):c.851T>A (p.Val284Glu) rs777786993
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) rs1558939623
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro) rs1924450715
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) rs1555976973
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) rs1924631837
NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs)
NM_001830.4(CLCN4):c.373del (p.Asp125fs) rs1924061524
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)
NM_001830.4(CLCN4):c.740dup (p.Asn248fs) rs2147178526
NM_001830.4(CLCN4):c.832del (p.Ser278fs) rs1924399093
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) rs1064796023
NM_001845.6(COL4A1):c.*32G>A rs1876439052
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg) rs2139187274
NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) rs1594566751
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) rs1555303720
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu) rs1878142219
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) rs1594555106
NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg) rs2139165606
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser) rs2139165584
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2337del (p.Ile780fs) rs2139165506
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) rs1878013473
NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg) rs2139164302
NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg) rs2139164265
NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) rs1555303073
NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg) rs2139162955
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp) rs2139162750
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter) rs1877904298
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser) rs2139162416
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp) rs2139160332
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) rs1877796592
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)
NM_001845.6(COL4A1):c.3515G>C (p.Gly1172Ala)
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) rs1877701802
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) rs1877518903
NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
NM_001845.6(COL4A1):c.4022-1G>A rs2139149392
NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4250-2A>C rs2139146303
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)
NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) rs1594088780
NM_001846.4(COL4A2):c.2203+1G>C
NM_001846.4(COL4A2):c.2902+1G>A rs1882975083
NM_001846.4(COL4A2):c.3346+1G>A rs2139534321
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg) rs2139537197
NM_001846.4(COL4A2):c.3625G>A (p.Gly1209Arg) rs2139538791
NM_001846.4(COL4A2):c.3634G>A (p.Gly1212Ser)
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522
NM_001846.4(COL4A2):c.4151_4168del (p.Thr1384_Gly1389del) rs2139553210
NM_001846.4(COL4A2):c.4183C>T (p.Gln1395Ter)
NM_001846.4(COL4A2):c.4557C>A (p.Tyr1519Ter) rs2139558301
NM_001846.4(COL4A2):c.4937G>C (p.Cys1646Ser)
NM_001846.4(COL4A2):c.520_523delinsACA (p.Leu174fs)
NM_001846.4(COL4A2):c.668G>A (p.Gly223Glu) rs2139460629
NM_001846.4(COL4A2):c.957+2T>C rs1013146465
NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val) rs1431787303
NM_001854.4(COL11A1):c.2752A>G (p.Arg918Gly) rs2101678782
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) rs1559470315
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro) rs121913228
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala) rs121913228
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer) rs2125638080
NM_001904.4(CTNNB1):c.1186-3T>G rs1212452748
NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg) rs863224864
NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter) rs2078362215
NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
NM_001904.4(CTNNB1):c.133T>G (p.Ser45Ala) rs121913407
NM_001904.4(CTNNB1):c.1524+2T>A rs878960699
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
NM_001904.4(CTNNB1):c.2273del (p.His758fs) rs1575339920
NM_001904.4(CTNNB1):c.242-5T>G rs2125619523
NM_001904.4(CTNNB1):c.496-2A>G
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) rs28931588
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) rs28931588
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) rs121913396
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) rs121913396
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr) rs1057519886
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro) rs1057519886
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala) rs1057519886
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_001904.4:c.1_1081del
NM_001909.5(CTSD):c.228+1G>A rs766300396
NM_001909.5(CTSD):c.228+1G>T rs766300396
NM_001909.5(CTSD):c.268del (p.Gln90fs) rs752612332
NM_001909.5(CTSD):c.675_704+1dup
NM_001909.5(CTSD):c.68+1G>A
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) rs1057519591
NM_001909.5(CTSD):c.69-1G>A
NM_001909.5(CTSD):c.704+1G>T
NM_001909.5(CTSD):c.824_827+30del rs2133659840
NM_001909.5(CTSD):c.827+2T>C rs1845791308
NM_001909.5(CTSD):c.828-2A>C
NM_001909.5(CTSD):c.972+1G>C
NM_001931.5(DLAT):c.381+1G>T
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer) rs2073222422
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His) rs2082366378
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr) rs2145944981
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)
NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu) rs2082424831
NM_001958.5(EEF1A2):c.47T>C (p.Val16Ala) rs1600909763
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly) rs2145946848
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys) rs2145355764
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp) rs730882230
NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)
NM_002024.6(FMR1):c.199-2A>G rs1057518850
NM_002024.6(FMR1):c.673G>A (p.Val225Ile)
NM_002025.4(AFF2):c.2885G>A (p.Cys962Tyr) rs1212059076
NM_002025.4(AFF2):c.3481C>T (p.Arg1161Ter) rs2124413117
NM_002063.4(GLRA2):c.777C>G (p.Ile259Met) rs2147096455
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp) rs2100858748
NM_002074.5(GNB1):c.158G>A (p.Gly53Glu) rs1557898800
NM_002074.5(GNB1):c.183G>T (p.Met61Ile)
NM_002074.5(GNB1):c.217G>A (p.Ala73Thr)
NM_002074.5(GNB1):c.226G>A (p.Asp76Asn) rs1646697327
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) rs1135401746
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala) rs1135401746
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.239T>G (p.Ile80Ser) rs752746786
NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)
NM_002074.5(GNB1):c.487G>A (p.Asp163Asn) rs2100546220
NM_002074.5(GNB1):c.496T>C (p.Cys166Arg) rs2100546091
NM_002074.5(GNB1):c.498-2A>G
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
NM_002074.5(GNB1):c.93_94del (p.Gln32fs)
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) rs869312826
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_002087.4(GRN):c.1179+1G>C
NM_002087.4(GRN):c.1414-15_1591del
NM_002087.4(GRN):c.264+1G>A rs1567885728
NM_002087.4(GRN):c.265-2A>T
NM_002087.4(GRN):c.599-1G>A rs1555611154
NM_002087.4(GRN):c.835+1G>A rs606231221
NM_002087.4(GRN):c.933+1G>A rs63750707
NM_002087.4(GRN):c.934-11_936del
NM_002087.4(GRN):c.934-1G>A rs2143340416
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys) rs2102735801
NM_002107.7(H3-3A):c.166C>A (p.Gln56Lys) rs2102736976
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) rs2102737050
NM_002107.7(H3-3A):c.363G>A (p.Met121Ile) rs2102742562
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002107.7(H3-3A):c.386G>A (p.Arg129His) rs1658121882
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met) rs1057519903
NM_002139.4(RBMX):c.388G>T (p.Asp130Tyr)
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002232.5(KCNA3):c.1070C>T (p.Ala357Val)
NM_002232.5(KCNA3):c.1292T>A (p.Ile431Asn)
NM_002232.5(KCNA3):c.1328C>T (p.Thr443Ile)
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val) rs2100949783
NM_002232.5(KCNA3):c.1378G>A (p.Val460Met)
NM_002232.5(KCNA3):c.1402_1403delinsTT (p.Gly468Phe)
NM_002232.5(KCNA3):c.1430C>A (p.Pro477His)
NM_002232.5(KCNA3):c.1432G>A (p.Val478Met)
NM_002232.5(KCNA3):c.32C>G (p.Pro11Arg)
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs) rs1278743247
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg) rs2153074771
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg) rs1227804681
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys) rs2153074319
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn) rs2153222922
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) rs1580988074
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
NM_002397.5(MEF2C):c.258+1G>A rs1064797310
NM_002397.5(MEF2C):c.258+5G>C rs2153073717
NM_002397.5(MEF2C):c.258G>A (p.Glu86=) rs796052724
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002397.5(MEF2C):c.402+146C>A rs1358670337
NM_002397.5(MEF2C):c.402+184del rs2152669802
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter) rs1772953161
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.637+1G>C rs2152497250
NM_002397.5(MEF2C):c.637+1G>T
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
NM_002397.5(MEF2C):c.810+2T>C
NM_002397.5(MEF2C):c.835-2A>G
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
NM_002402.4(MEST):c.559C>T (p.Pro187Ser) rs863223353
NM_002508.3(NID1):c.3385+1G>A rs730882225
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
NM_002547.3(OPHN1):c.1105-13_1109del rs2077502210
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del) rs2078892867
NM_002547.3(OPHN1):c.1202-1G>A rs2147456067
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_002547.3(OPHN1):c.1526+1G>A rs2147429591
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu) rs2147404496
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002547.3(OPHN1):c.597+1del
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.702+4A>G rs2147481894
NM_002547.3(OPHN1):c.702+4A>T rs2147481894
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter) rs2149325212
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr) rs1603377813
NM_002578.5(PAK3):c.1182del (p.Leu395fs)
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg) rs1569459580
NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg) rs1603378331
NM_002578.5(PAK3):c.176-1G>A
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter) rs780775497
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter) rs2093969640
NM_002608.4(PDGFB):c.-318C>T
NM_002608.4(PDGFB):c.-373C>G
NM_002608.4(PDGFB):c.1A>G (p.Met1Val) rs1932632616
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter) rs1932260742
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002617.4(PEX10):c.113-1G>C
NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.142dup (p.Glu48fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
NM_002617.4(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.335_338del (p.Pro112fs) rs2100429450
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.587del (p.Thr196fs)
NM_002617.4(PEX10):c.592del (p.Ile198fs)
NM_002617.4(PEX10):c.600+1del rs1553232077
NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
NM_002617.4(PEX10):c.601-18dup
NM_002617.4(PEX10):c.601-24_601-23del rs1553231875
NM_002617.4(PEX10):c.601-26_601-25delinsCTC rs1553231888
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-61G>A
NM_002617.4(PEX10):c.618del (p.Gly208fs)
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.773_776+17del
NM_002617.4(PEX10):c.776+1G>A
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002617.4(PEX10):c.776+2T>A rs1335685844
NM_002617.4(PEX10):c.777-1G>A
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter) rs769251149
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
NM_002617.4(PEX10):c.815del (p.Leu272fs) rs1553231783
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.844_848del (p.His282fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.912+1G>A rs1553231739
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4(PEX10):c.916del (p.Glu306fs) rs2100419143
NM_002618.4(PEX13):c.787+1G>A rs2104803776
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.93-1G>A
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr) rs1602212285
NM_002641.4(PIGA):c.1A>G (p.Met1Val) rs1922179572
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_002641.4(PIGA):c.268T>C (p.Tyr90His)
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs) rs2129224282
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg) rs2122521078
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.1023+1G>A
NM_002693.3(POLG):c.1024-1G>C rs1567192203
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) rs1596358408
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) rs1567191334
NM_002693.3(POLG):c.1586-1G>A rs2055524549
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly) rs139717885
NM_002693.3(POLG):c.1845dup (p.Glu616fs)
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)
NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)
NM_002693.3(POLG):c.1942_1943delinsAG (p.Pro648Ser)
NM_002693.3(POLG):c.1944del (p.Tyr649fs)
NM_002693.3(POLG):c.1950-1G>A
NM_002693.3(POLG):c.1950-2A>G rs2152063472
NM_002693.3(POLG):c.2070+2T>G
NM_002693.3(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2266-1G>A rs2152062443
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu) rs755315398
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)
NM_002693.3(POLG):c.2391_2393del (p.Met797del) rs1567187766
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2426+1G>A
NM_002693.3(POLG):c.2480+2T>C
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) rs1567194243
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr) rs750203541
NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)
NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)
NM_002693.3(POLG):c.2555G>A (p.Arg852His) rs1567187093
NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2585C>T (p.Ala862Val) rs2152061668
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) rs1567187057
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.3(POLG):c.2598+1G>A
NM_002693.3(POLG):c.2598+2T>C rs1596352762
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro) rs763393580
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)
NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)
NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)
NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg) rs1484810169
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)
NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2858G>A (p.Arg953His) rs1567186581
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs) rs1252078081
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)
NM_002693.3(POLG):c.2981+1G>C
NM_002693.3(POLG):c.2981+2T>G rs775260762
NM_002693.3(POLG):c.2982-1G>A
NM_002693.3(POLG):c.3104+1G>T
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu) rs775248939
NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro) rs140079523
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)
NM_002693.3(POLG):c.3282del (p.Ser1095fs) rs1596350117
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu) rs368435864
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter) rs2055345819
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3328C>A (p.His1110Asn)
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr) rs2152058760
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro) rs1567185178
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)
NM_002693.3(POLG):c.3402T>G (p.His1134Gln)
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3483-7_3509del
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs) rs1596348547
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) rs754844175
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)
NM_002693.3(POLG):c.3568del (p.Arg1190fs) rs1596348470
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) rs1567194013
NM_002693.3(POLG):c.508del (p.Ala170fs)
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816
NM_002693.3(POLG):c.659+1G>T
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.730C>T (p.Leu244Phe)
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.884dup (p.Met295fs)
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
NM_002693.3(POLG):c.934_935del (p.Trp312fs)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys) rs386134172
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) rs2122976509
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe) rs2122988567
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro) rs121918515
NM_002739.5(PRKCG):c.381G>T (p.Gln127His) rs973767996
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) rs2122988688
NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp) rs1385053433
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys) rs1304701232
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_002816.5(PSMD12):c.795+1G>A rs2041974262
NM_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr) rs1679218434
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002857.4(PEX19):c.180+1G>T rs1320716582
NM_002857.4(PEX19):c.181-2A>G rs2101804905
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.346+2T>C rs1657837348
NM_002857.4(PEX19):c.594+1G>C
NM_002857.4(PEX19):c.70+2T>G
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr) rs989031241
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg) rs2055786277
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_002941.4(ROBO1):c.2440_2442+4del
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_002979.5(SCP2):c.588dup
NM_003011.4(SET):c.138dup (p.Glu47Ter)
NM_003011.4(SET):c.219del (p.Glu73fs)
NM_003011.4(SET):c.340_341del (p.Glu114fs) rs1861593395
NM_003011.4(SET):c.573del (p.Trp192fs) rs1861625938
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr) rs749240316
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe) rs2124926302
NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu) rs1553689859
NM_003042.4(SLC6A1):c.1078+1G>C
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1099G>A (p.Ala367Thr) rs1697748409
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del) rs2124930894
NM_003042.4(SLC6A1):c.1191+1G>A rs2124930966
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1328G>A (p.Gly443Asp) rs1697891755
NM_003042.4(SLC6A1):c.1427-1G>A rs1553691674
NM_003042.4(SLC6A1):c.1459A>G (p.Met487Val)
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr) rs1559639240
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003042.4(SLC6A1):c.1527+1G>A
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1695+1G>A
NM_003042.4(SLC6A1):c.179A>C (p.Tyr60Ser) rs2124905507
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu) rs2124905654
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys) rs2124905696
NM_003042.4(SLC6A1):c.256T>C (p.Tyr86His)
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu) rs1553688015
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg) rs1064795290
NM_003042.4(SLC6A1):c.362del (p.Met121fs)
NM_003042.4(SLC6A1):c.370+2T>C
NM_003042.4(SLC6A1):c.370+2del rs2124907093
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys) rs1697264007
NM_003042.4(SLC6A1):c.471+1G>T rs1559623389
NM_003042.4(SLC6A1):c.472-1G>C rs1697337518
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
NM_003042.4(SLC6A1):c.581+1G>C
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val) rs1697444014
NM_003042.4(SLC6A1):c.715-1G>C
NM_003042.4(SLC6A1):c.739C>T (p.Pro247Ser)
NM_003042.4(SLC6A1):c.757del (p.Ile253fs)
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro) rs2124924511
NM_003042.4(SLC6A1):c.838_841del (p.Ser280fs) rs2124924504
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr) rs2124924976
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)
NM_003042.4(SLC6A1):c.901_909del (p.Gly301_Leu303del)
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4(SLC6A1):c.991A>G (p.Ser331Gly) rs2124926212
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs) rs1221107969
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) rs1392638187
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1538G>A (p.Gly513Asp) rs1586660338
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val) rs1586660338
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) rs1586660370
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn) rs863224922
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg) rs1821581008
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg) rs1821584135
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys) rs1586692548
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) rs1586692551
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
NM_003070.5(SMARCA2):c.3457-2A>T rs1823192606
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) rs863224921
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys) rs1823200345
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg) rs2145937134
NM_003072.5(SMARCA4):c.1429A>G (p.Asn477Asp) rs2086880392
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys) rs2145938426
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu) rs2145970607
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter) rs2146359668
NM_003072.5(SMARCA4):c.2506-2A>G
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln) rs2146373452
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser) rs1568486679
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu) rs778175819
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser) rs2146419846
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His) rs2146497910
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala) rs2146600868
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys) rs2146654092
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg) rs1600393629
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del) rs2146042583
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly) rs886039520
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln) rs1555877287
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu) rs2030318562
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs) rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro) rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs) rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs) rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter) rs1576426439
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) rs1555605795
NM_003091.4(SNRPB):c.560-1G>T rs2085044676
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser) rs1582601669
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn) rs1582601747
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro) rs1464282327
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
NM_003108.4(SOX11):c.1216del (p.Ser406fs) rs1572217107
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp) rs2103276324
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln) rs2103276330
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys) rs2103276337
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu) rs2103276338
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe) rs1553327809
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
NM_003108.4(SOX11):c.293del (p.Phe98fs) rs1558373252
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.305C>T (p.Ala102Val) rs1665661372
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu) rs1665662335
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs) rs2103276750
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter) rs1441654871
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del) rs1597665063
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp) rs2131543392
NM_003179.3(SYP):c.615+2T>C
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu) rs2038452898
NM_003336.4(UBE2A):c.242-3_244del rs2053456972
NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del) rs2053457413
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) rs1603308066
NM_003336.4(UBE2A):c.330+1G>A rs2053457643
NM_003336.4(UBE2A):c.330+1del
NM_003336.4(UBE2A):c.373del (p.Gln125fs) rs1556244406
NM_003336.4(UBE2A):c.421_422del (p.Val141fs) rs2147382084
NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)
NM_003365.3(UQCRC1):c.359T>C (p.Leu120Pro)
NM_003383.5(VLDLR):c.1962+1G>A rs2130801524
NM_003383.5(VLDLR):c.1962+2T>C rs1563764078
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
NM_003383.5(VLDLR):c.2252-2A>C
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter) rs2130810631
NM_003383.5(VLDLR):c.262dup (p.Arg88fs) rs2130785730
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) rs797046092
NM_003383.5(VLDLR):c.325+1G>A
NM_003383.5(VLDLR):c.325+1del
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.812T>C (p.Val271Ala) rs2139804166
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs) rs2141185978
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
NM_003477.3(PDHX):c.793dup (p.Thr265fs) rs1057518180
NM_003482.4(KMT2D):c.1769dup (p.Met590fs) rs1565819425
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr) rs1603290816
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) rs1557107942
NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln) rs2065169655
NM_003491.4(NAA10):c.361C>G (p.Leu121Val) rs1557107462
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) rs1603290291
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003533.3(H3C11):c.82A>G (p.Lys28Glu) rs1057519905
NM_003533.3(H3C11):c.83A>T (p.Lys28Met) rs1057519904
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) rs1582953009
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) rs1582931908
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=) rs2147321510
NM_003590.5(CUL3):c.743_744dup (p.Met249Ter) rs1692824104
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_003620.4(PPM1D):c.1221_1222insTC (p.Val408fs) rs2143719799
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs) rs2143719857
NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)
NM_003620.4(PPM1D):c.1277del (p.Pro426fs) rs1555649009
NM_003620.4(PPM1D):c.1349T>G (p.Leu450Ter)
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)
NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)
NM_003620.4(PPM1D):c.1412del (p.Pro471fs) rs780195897
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_003620.4(PPM1D):c.1606del (p.Arg536fs) rs2031564242
NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)
NM_003630.3(PEX3):c.331+1G>C
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) rs1473197986
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) rs2105675391
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) rs121434411
NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)
NM_003659.4(AGPS):c.1546-84_1591dup
NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)
NM_003659.4(AGPS):c.1608-1G>A
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)
NM_003659.4(AGPS):c.301dup (p.Ser101fs)
NM_003659.4(AGPS):c.544C>T (p.Arg182Ter) rs1686426425
NM_003659.4(AGPS):c.557_562+5del
NM_003659.4(AGPS):c.562+1G>A
NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)
NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)
NM_003659.4(AGPS):c.637+2T>A
NM_003659.4(AGPS):c.710-2A>G
NM_003659.4(AGPS):c.918_919del (p.Glu306fs)
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) rs121434412
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA rs775832077
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003705.5(SLC25A12):c.225del (p.Glu76fs) rs1685036155
NM_003705.5(SLC25A12):c.326-2A>C rs1573977142
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser) rs2105895501
NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter)
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) rs1185010700
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
NM_003793.4(CTSF):c.130del (p.Arg44fs) rs1857984449
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
NM_003793.4(CTSF):c.264del (p.Cys89fs)
NM_003793.4(CTSF):c.530_531+11del rs2134954887
NM_003793.4(CTSF):c.965-1G>A
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs) rs2134951897
NM_003797.5(EED):c.767T>C (p.Met256Thr)
NM_003805.5(CRADD):c.285dup (p.Asp96fs) rs1555213545
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
NM_003865.3(HESX1):c.158-1G>C rs1238248024
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp) rs1573589807
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter) rs778229060
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
NM_003977.4(AIP):c.3G>A (p.Met1Ile) rs886037871
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.844dup (p.Gln282fs)
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter) rs1588057922
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter) rs1828368702
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys) rs760285654
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_004035.7(ACOX1):c.110-2A>G rs2144330766
NM_004035.7(ACOX1):c.1299-1G>T
NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs) rs747192384
NM_004035.7(ACOX1):c.1312del (p.Ser438fs) rs747192384
NM_004035.7(ACOX1):c.139del (p.Gln47fs) rs1567892272
NM_004035.7(ACOX1):c.1453G>T (p.Glu485Ter)
NM_004035.7(ACOX1):c.1478+1G>A rs2144237287
NM_004035.7(ACOX1):c.1603del (p.Val534_Val535insTer)
NM_004035.7(ACOX1):c.1704_1707del (p.Ser568fs) rs1332660959
NM_004035.7(ACOX1):c.1717del (p.Asp573fs) rs1292759098
NM_004035.7(ACOX1):c.1729-2A>G
NM_004035.7(ACOX1):c.1729-2del
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004035.7(ACOX1):c.1813dup (p.Ala605fs)
NM_004035.7(ACOX1):c.1851del (p.Gly618fs) rs797045080
NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter)
NM_004035.7(ACOX1):c.420_421del (p.Glu140fs)
NM_004035.7(ACOX1):c.498_499del (p.Asn166fs)
NM_004035.7(ACOX1):c.539-2A>G
NM_004035.7(ACOX1):c.541G>A (p.Gly181Arg)
NM_004035.7(ACOX1):c.629G>A (p.Arg210His)
NM_004035.7(ACOX1):c.679_774+103del
NM_004035.7(ACOX1):c.795C>A (p.Tyr265Ter)
NM_004035.7(ACOX1):c.846_856dup (p.Val286fs)
NM_004035.7(ACOX1):c.928T>C (p.Ser310Pro)
NM_004035.7(ACOX1):c.944+1G>T
NM_004035.7(ACOX1):c.945-1G>C rs2144242585
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_004056.6(CA8):c.475A>T (p.Lys159Ter) rs79267946
NM_004056.6(CA8):c.730dup (p.Gln244fs) rs1807291595
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)
NM_004115.4(FGF14):c.194-1G>C
NM_004115.4(FGF14):c.408+1G>A
NM_004115.4(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)
NM_004171.4(SLC1A2):c.689T>C (p.Ile230Thr)
NM_004171.4(SLC1A2):c.746del (p.Phe249fs)
NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys) rs2146914735
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg) rs2073528836
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val) rs2073151214
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly) rs2146867887
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.2243+1G>T rs2073058023
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) rs1934722562
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_004187.5(KDM5C):c.4118-2A>G rs2146815883
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter) rs1602226289
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004204.5(PIGQ):c.1327_1335+2del rs2151047692
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) rs1361495767
NM_004204.5(PIGQ):c.1531+1G>A
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) rs786204849
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
NM_004287.5(GOSR2):c.204-1G>T rs1187190721
NM_004287.5(GOSR2):c.337-2A>G rs1568177307
NM_004287.5(GOSR2):c.95-1G>C rs1186314496
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn) rs779049732
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
NM_004380.3(CREBBP):c.1574-2A>G rs2141248421
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp) rs1354934373
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro) rs2053254528
NM_004380.3(CREBBP):c.1824-1G>C
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) rs2141237064
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.2113+1G>C
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2464-1G>A rs2052993075
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
NM_004380.3(CREBBP):c.3370-2A>G rs866703165
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs) rs2151383848
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly) rs1596854023
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) rs267606752
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) rs2151354104
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004380.3(CREBBP):c.3983-1G>C rs2151341377
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro) rs1596813665
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe) rs149877180
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu) rs1596812290
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr) rs2052153254
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe) rs200616542
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg) rs145988918
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro) rs778448390
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His) rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr) rs1596810419
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) rs928061320
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) rs398124146
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu) rs1057519884
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.4395-2A>C rs2151330226
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr) rs1596805927
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) rs1555473122
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr) rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg) rs1596805792
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu) rs1596804126
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro) rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr) rs2051863859
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser) rs2051863859
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His) rs988251457
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro) rs2051852330
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter) rs2051825168
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter) rs1555471077
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter) rs2151304304
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) rs1555470631
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe) rs587777036
NM_004483.5(GCSH):c.425-1G>T rs386833859
NM_004519.4(KCNQ3):c.1045-1G>T rs1826416962
NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs) rs1822523749
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) rs2130121430
NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala)
NM_004519.4(KCNQ3):c.1123G>A (p.Ala375Thr) rs2130121106
NM_004519.4(KCNQ3):c.1262+1G>T
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.777+1G>T
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp) rs118192250
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met) rs2130128566
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004521.3(KIF5B):c.2252A>G (p.His751Arg) rs1114167297
NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln) rs1983540456
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr) rs1582953433
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs) rs746646126
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
NM_004565.3(PEX14):c.298+1G>C
NM_004565.3(PEX14):c.299-5_306del
NM_004565.3(PEX14):c.36+1G>T rs1641167602
NM_004577.4(PSPH):c.301C>T (p.Arg101Ter) rs1264747554
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly) rs2067699201
NM_004586.3(RPS6KA3):c.1022del (p.His341fs) rs2148664069
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val) rs2148653302
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His) rs2067475470
NM_004586.3(RPS6KA3):c.1602+2del rs2148649846
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln) rs1555927532
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg) rs2067342745
NM_004586.3(RPS6KA3):c.1960-6_1971del
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del) rs2148721833
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.406+1G>T
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val) rs2148701829
NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His) rs2148701796
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter) rs1555939456
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_004586.3(RPS6KA3):c.840_845+3del
NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter) rs2067702700
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys) rs2147508108
NM_004595.5(SMS):c.328C>G (p.Arg110Gly) rs1924243873
NM_004595.5(SMS):c.410A>G (p.Asp137Gly) rs1924586809
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_004595.5(SMS):c.587T>C (p.Ile196Thr) rs1924648986
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004595.5(SMS):c.865+2T>C rs2146953457
NM_004603.4(STX1A):c.435C>G (p.Cys145Trp) rs200456346
NM_004603.4(STX1A):c.554C>G (p.Ser185Cys) rs2116731315
NM_004603.4(STX1A):c.668_670del (p.Val223del) rs2116730968
NM_004603.4(STX1A):c.677A>G (p.Gln226Arg) rs2116730958
NM_004603.4(STX1A):c.722_724del (p.Val241del) rs2116724168
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly) rs1602481623
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) rs1602489684
NM_004606.5(TAF1):c.1A>T (p.Met1Leu) rs2148106783
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln) rs1602490113
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)
NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp) rs2034364118
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
NM_004606.5(TAF1):c.2714G>A (p.Gly905Asp) rs2034442612
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) rs1057518019
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile) rs1602520317
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys) rs2034677583
NM_004606.5(TAF1):c.3407-1G>A
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) rs1569301036
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp) rs1602538353
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile) rs1131691982
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu) rs1555980523
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro) rs2148488146
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile) rs1602572645
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg) rs1064793874
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val) rs1602624950
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys) rs2148612232
NM_004606.5(TAF1):c.715G>A (p.Val239Met) rs2033574124
NM_004674.5(ASH2L):c.1726A>G (p.Ile576Val) rs1060499744
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly) rs2068797192
NM_004813.4(PEX16):c.112+2T>G rs1590798080
NM_004813.4(PEX16):c.149-2A>G
NM_004813.4(PEX16):c.226-2A>C
NM_004813.4(PEX16):c.359+1G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
NM_004813.4(PEX16):c.694+1G>A rs2134692847
NM_004813.4(PEX16):c.887+2T>G rs2134691627
NM_004813.4(PEX16):c.888-1G>C
NM_004813.4(PEX16):c.888-2A>C rs2086772786
NM_004813.4(PEX16):c.995_997del (p.Phe332del) rs797045062
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) rs786205583
NM_004830.4(MED23):c.953del (p.Glu318fs) rs1776174152
NM_004855.5(PIGB):c.795-1G>C rs1163732372
NM_004859.4(CLTC):c.111del (p.Phe37fs) rs2143496899
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
NM_004859.4(CLTC):c.2562-1G>C
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter) rs2143591718
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter) rs367867382
NM_004879.5(EI24):c.742C>T (p.Pro248Ser) rs1938981293
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) rs2100609915
NM_004973.4(JARID2):c.12_13del (p.Arg5fs) rs2127277880
NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile) rs2101396443
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser) rs1557731896
NM_004974.4(KCNA2):c.1220C>T (p.Pro407Leu)
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) rs1570752696
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer) rs2101403658
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser) rs2101398595
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_004974.4(KCNA2):c.929A>G (p.His310Arg) rs1649470988
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn) rs1569017160
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe) rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr) rs1569017025
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) rs1984233764
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter) rs1569016820
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004992.3(MECP2):c.27-8916_1212del
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu) rs1568636630
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp) rs1057519801
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) rs2043757489
NM_005045.4(RELN):c.2002+1G>A
NM_005045.4(RELN):c.2303+1G>A rs2117350995
NM_005045.4(RELN):c.2303+2T>G
NM_005045.4(RELN):c.2465+2T>G
NM_005045.4(RELN):c.3463dup (p.Leu1155fs) rs1831540987
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.4936+1G>T
NM_005045.4(RELN):c.5615-2A>G rs2117168257
NM_005045.4(RELN):c.6068_6072+20del
NM_005045.4(RELN):c.6314del (p.Phe2105fs) rs1830269249
NM_005045.4(RELN):c.7180+1G>T rs2117126444
NM_005045.4(RELN):c.805+1G>T
NM_005045.4(RELN):c.8843+2T>C
NM_005045.4(RELN):c.9444-1G>A rs1828624396
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe) rs1553546045
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173
NM_005076.5(CNTN2):c.1240+1G>A rs113709347
NM_005076.5(CNTN2):c.1695+2T>C rs763392794
NM_005076.5(CNTN2):c.1696-2A>G
NM_005076.5(CNTN2):c.2126-1G>C rs2151198133
NM_005076.5(CNTN2):c.2197-2A>G
NM_005076.5(CNTN2):c.2544+1G>T
NM_005076.5(CNTN2):c.2731+1G>A rs1202358073
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn) rs754901294
NM_005097.4(LGI1):c.1095del (p.Asn365fs) rs2134026453
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln) rs1064794249
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.187del (p.Arg63fs)
NM_005097.4(LGI1):c.215+2T>A rs2059586444
NM_005097.4(LGI1):c.287+1G>A rs2059593242
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter) rs2059583625
NM_005097.4(LGI1):c.504-1G>T rs1564851314
NM_005097.4(LGI1):c.504-9_505del rs2134020777
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
NM_005120.3(MED12):c.100-2A>T
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.224G>C (p.Ser75Thr) rs867655376
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.4048-1G>A rs2092317530
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4863+1G>A
NM_005120.3(MED12):c.5025+1G>C
NM_005120.3(MED12):c.5400+2T>C rs2147827179
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) rs2092334822
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) rs2092347481
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005120.3(MED12):c.6439C>A (p.Gln2147Lys) rs863223699
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005121.3(MED13):c.1036dup (p.Val346fs) rs2143672313
NM_005121.3(MED13):c.1968-1G>A rs2080338119
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
NM_005121.3(MED13):c.3786_3787insAA (p.Pro1263fs)
NM_005121.3(MED13):c.3902C>G (p.Pro1301Arg) rs2143410400
NM_005121.3(MED13):c.413_414dup (p.Ile139fs)
NM_005121.3(MED13):c.4225C>T (p.Arg1409Ter)
NM_005121.3(MED13):c.4802C>A (p.Ser1601Ter)
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) rs121909616
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) rs730882242
NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala) rs139236063
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val) rs139236063
NM_005228.5(EGFR):c.322A>G (p.Arg108Gly) rs1057519888
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys) rs1057519828
NM_005228.5(EGFR):c.787A>C (p.Thr263Pro) rs1057519829
NM_005228.5(EGFR):c.865G>A (p.Ala289Thr) rs769696078
NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn) rs1057519887
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile) rs1057519887
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp) rs149840192
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) rs149840192
NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs) rs1881815891
NM_005249.5(FOXG1):c.1020del (p.Tyr341fs) rs2138661880
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_005249.5(FOXG1):c.156_160del (p.His52fs) rs1881779084
NM_005249.5(FOXG1):c.233_234insA (p.Pro79fs)
NM_005249.5(FOXG1):c.233_234insAA (p.Pro79fs) rs2138660420
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)
NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs) rs2138660628
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
NM_005249.5(FOXG1):c.339del (p.Ala114fs)
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del) rs2138661060
NM_005249.5(FOXG1):c.515dup (p.Glu173fs) rs2138661058
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu) rs796052461
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) rs1057516138
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu) rs587783638
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile) rs1555321311
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.578C>A (p.Ala193Asp) rs2138661170
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr)
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) rs2138661171
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe) rs2138661244
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr) rs2138661267
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.653A>G (p.Tyr218Cys) rs1881804364
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly)
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu) rs786205007
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp) rs587783640
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys) rs767873754
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
NM_005249.5(FOXG1):c.803del (p.Gly268fs)
NM_005249.5(FOXG1):c.811G>A (p.Gly271Ser) rs1881809272
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005249.5(FOXG1):c.844dup (p.Ala282fs) rs2138661638
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)
NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)
NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr) rs1555455456
NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn) rs2143630846
NM_005324.5(H3-3B):c.23C>T (p.Ala8Val) rs1555585522
NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys) rs2061653458
NM_005324.5(H3-3B):c.28A>G (p.Lys10Glu) rs2143631415
NM_005324.5(H3-3B):c.410_411del (p.Ter137CysextTer?) rs2143629918
NM_005324.5(H3-3B):c.68C>A (p.Thr23Lys) rs2143631320
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu) rs1057519919
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val) rs140630794
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)
NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn) rs1554689319
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile) rs1830549152
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr) rs1554689313
NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005465.7(AKT3):c.230T>A (p.Leu77His) rs2147921662
NM_005465.7(AKT3):c.237G>C (p.Trp79Cys) rs2147921624
NM_005465.7(AKT3):c.548T>A (p.Val183Asp) rs886041100
NM_005465.7(AKT3):c.685A>C (p.Asn229His) rs530590989
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr) rs1064795602
NM_005506.4(SCARB2):c.108dup (p.Ile37fs) rs1733108376
NM_005506.4(SCARB2):c.1113+1G>T rs2109937707
NM_005506.4(SCARB2):c.1114-2A>G
NM_005506.4(SCARB2):c.1240-2A>G
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.424-1G>A rs1732338984
NM_005506.4(SCARB2):c.995-16_1062delinsG
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter) rs1308325707
NM_005629.3:c.1488_1899del
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs) rs2148358474
NM_005629.4(SLC6A8):c.1056CTT[1] (p.Phe354del)
NM_005629.4(SLC6A8):c.1076TCT[1] (p.Phe360del)
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1152_1156dup (p.Phe386fs)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1208C>T (p.Ala403Val) rs1557045296
NM_005629.4(SLC6A8):c.1210G>C (p.Ala404Pro)
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1255-35_1272del rs2091473708
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1421A>G (p.Asp474Gly)
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del) rs2091477188
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
NM_005629.4(SLC6A8):c.1592_1639dup (p.Gly533fs)
NM_005629.4(SLC6A8):c.1612_1613dup (p.Asn538fs)
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1681G>C (p.Gly561Arg)
NM_005629.4(SLC6A8):c.1699T>C (p.Ser567Pro)
NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His)
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) rs2091437670
NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg) rs1557043855
NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser)
NM_005629.4(SLC6A8):c.263-3_271del
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) rs2091449037
NM_005629.4(SLC6A8):c.394+2T>G
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter)
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter)
NM_005629.4(SLC6A8):c.527_529del (p.Trp176_Asn177delinsTyr)
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) rs1557044461
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.748_749del (p.Val250fs) rs1557044569
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
NM_005629.4(SLC6A8):c.912+2T>G rs2091466607
NM_005629.4(SLC6A8):c.912G>A (p.Gln304=)
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) rs2091467532
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs) rs1569539358
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs) rs2148358457
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr) rs1556518231
NM_005645.4(TAF13):c.204+1G>T rs2102105455
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) rs763566932
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) rs1753373048
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) rs1554075105
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) rs2149946121
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs) rs2149941524
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter) rs2149941551
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) rs1753210329
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) rs1287146448
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) rs1287146448
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) rs2149941603
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) rs1554074677
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) rs1753211889
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu) rs2149941611
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) rs863224903
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) rs1580358677
NM_005654.6(NR2F1):c.463+1G>A rs1753213365
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu) rs1753260850
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) rs1554074850
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) rs1580358347
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs) rs1753268855
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu) rs1362231306
NM_005670.4(EPM2A):c.745G>A (p.Val249Met) rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu) rs749937487
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val) rs2128649886
NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys) rs863223350
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr) rs2146543631
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) rs1581036396
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu) rs2151504167
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter) rs776620952
NM_005861.4(STUB1):c.525-1G>A rs2151505158
NM_005861.4(STUB1):c.646dup (p.Ser216fs) rs1555475283
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del) rs1555475375
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly) rs760424025
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp) rs760424025
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly) rs770730338
NM_005861.4(STUB1):c.779A>C (p.His260Pro) rs2151506687
NM_005861.4(STUB1):c.807dup (p.Val270fs) rs2151507049
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) rs1559824939
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) rs1559791842
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
NM_005862.3(STAG1):c.3261del (p.Lys1087fs) rs1553789166
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer) rs2107905668
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg) rs2107905472
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs) rs2057404166
NM_005883.3(APC2):c.3397C>T (p.Arg1133Ter)
NM_005883.3(APC2):c.759dup (p.Glu254fs)
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
NM_005918.4(MDH2):c.755C>T (p.Ala252Val)
NM_005918.4(MDH2):c.884G>T (p.Gly295Val)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp) rs1019534975
NM_006015.6(ARID1A):c.1920+3_1920+6del rs2124792810
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) rs1553152590
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr) rs1570609440
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro) rs2124087634
NM_006015.6(ARID1A):c.3198+2dup
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs) rs2124114899
NM_006015.6(ARID1A):c.4102-1G>C rs2081113293
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs) rs1553153291
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) rs797045264
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter) rs2124742621
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr) rs2081174839
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr) rs1570622663
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile) rs1553153783
NM_006030.4(CACNA2D2):c.1340-2A>G rs2106654236
NM_006030.4(CACNA2D2):c.1389+2T>C rs1575601202
NM_006030.4(CACNA2D2):c.1390-1G>C rs2106652662
NM_006030.4(CACNA2D2):c.1774-2A>G rs2106640384
NM_006030.4(CACNA2D2):c.1845+1G>T rs1704944478
NM_006030.4(CACNA2D2):c.2045+1G>A rs2109421369
NM_006030.4(CACNA2D2):c.206_206+34del rs2107204955
NM_006030.4(CACNA2D2):c.2234+1G>T
NM_006030.4(CACNA2D2):c.2402-2A>C rs1378156947
NM_006030.4(CACNA2D2):c.2637+1G>C
NM_006030.4(CACNA2D2):c.466-1G>C rs2106702374
NM_006030.4(CACNA2D2):c.784+1G>C rs1705277912
NM_006030.4(CACNA2D2):c.784+2T>G
NM_006030.4(CACNA2D2):c.842+1G>A rs1705258881
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006059.4(LAMC3):c.2479_2480del (p.Leu827fs) rs781432366
NM_006059.4(LAMC3):c.2819del (p.Pro940fs) rs1170064033
NM_006059.4(LAMC3):c.3211+2T>C rs2133322852
NM_006059.4(LAMC3):c.63del (p.Met22fs)
NM_006059.4(LAMC3):c.809+2_809+8del rs775851709
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer) rs761516738
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)
NM_006086.4(TUBB3):c.1139G>C (p.Arg380Pro) rs777149755
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006086.4(TUBB3):c.178G>T (p.Val60Leu) rs2151092282
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.313C>A (p.His105Asn)
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) rs1131691895
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu) rs886041459
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala) rs2030417656
NM_006086.4(TUBB3):c.925C>T (p.Arg309Cys) rs2151092961
NM_006086.4(TUBB3):c.929A>G (p.Tyr310Cys) rs2151092964
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys) rs1057518686
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)
NM_006180.6(NTRK2):c.1279G>T (p.Gly427Cys) rs142393662
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006186.4(NR4A2):c.327dup (p.Ser110fs) rs1553456695
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) rs1686821540
NM_006214.4(PHYH):c.124C>T (p.Gln42Ter)
NM_006214.4(PHYH):c.225del (p.Asp75fs)
NM_006214.4(PHYH):c.343G>T (p.Glu115Ter)
NM_006214.4(PHYH):c.388del (p.Leu130fs)
NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter)
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.415-1G>T
NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer)
NM_006214.4(PHYH):c.488del (p.Pro163fs)
NM_006214.4(PHYH):c.497-1G>A rs761927136
NM_006214.4(PHYH):c.502A>T (p.Lys168Ter)
NM_006214.4(PHYH):c.50dup (p.Gly18fs)
NM_006214.4(PHYH):c.520dup (p.Leu174fs)
NM_006214.4(PHYH):c.527_528del (p.Gln176fs)
NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs)
NM_006214.4(PHYH):c.578G>A (p.Trp193Ter)
NM_006214.4(PHYH):c.640A>T (p.Lys214Ter)
NM_006214.4(PHYH):c.684del (p.Val229fs)
NM_006214.4(PHYH):c.686_687del (p.Val229fs)
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.811del (p.Thr271fs) rs2131634446
NM_006214.4(PHYH):c.896del (p.Asn299fs)
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln) rs1057519925
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp) rs1057519926
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val) rs1057519927
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His) rs1057519940
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala) rs1057519928
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val) rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr) rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly) rs1339608272
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del) rs2150278773
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis) rs1762135444
NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys) rs2150278805
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys) rs1762178779
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.129dup (p.Arg44fs) rs2113064591
NM_006261.5(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs) rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs) rs1057517424
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
NM_006261.5(PROP1):c.274C>T (p.Gln92Ter) rs794726693
NM_006261.5(PROP1):c.288_289del (p.Ile96fs) rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr) rs1554182645
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter) rs1554182481
NM_006261.5(PROP1):c.342+1G>A rs1436089021
NM_006261.5(PROP1):c.343-1G>A
NM_006261.5(PROP1):c.343-2A>T rs1057517041
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs) rs1057517027
NM_006261.5(PROP1):c.3G>C (p.Met1Ile) rs1064797071
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006261.5(PROP1):c.557del (p.Ala186fs) rs762529663
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.629del (p.Pro210fs) rs761018422
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.74_75dup (p.His26fs) rs1554182632
NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) rs1060499624
NM_006279.5(ST3GAL3):c.118+1G>A rs2154091891
NM_006279.5(ST3GAL3):c.167-2A>G
NM_006279.5(ST3GAL3):c.167-2A>T
NM_006279.5(ST3GAL3):c.210-1G>C
NM_006279.5(ST3GAL3):c.397+2T>C rs200255759
NM_006279.5(ST3GAL3):c.558-19_562del
NM_006279.5(ST3GAL3):c.891+1G>T rs2082857900
NM_006279.5(ST3GAL3):c.891+2T>G
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)
NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs) rs2146604738
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs) rs2075702300
NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del) rs2146599562
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter) rs2146582657
NM_006306.4(SMC1A):c.829CAG[2] (p.Gln279del)
NM_006321.4(ARIH2):c.1411-3C>T
NM_006421.5(ARFGEF1):c.1028-2A>T rs2128900324
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.173+1G>A
NM_006493.4(CLN5):c.173+1G>T rs1739482158
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) rs267606738
NM_006493.4(CLN5):c.339+1G>A
NM_006493.4(CLN5):c.339+1G>T
NM_006493.4(CLN5):c.340-1G>C
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) rs2154034738
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu) rs1570600997
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) rs2124446500
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) rs1570590905
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val) rs2124450819
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.286del (p.Met96fs) rs1643481930
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) rs1643480923
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) rs773339124
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.680-3C>G rs112081052
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) rs2124449089
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val) rs2124449030
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr) rs1064795363
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro) rs2124448826
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer) rs2147871837
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) rs2147871878
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu) rs2147871919
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs) rs2147350836
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.431-2A>G rs2147869490
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter) rs1930396705
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.607del (p.Ile203fs) rs2147870528
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) rs2147870607
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006521.6(TFE3):c.566A>G (p.Tyr189Cys) rs2064742830
NM_006521.6(TFE3):c.569A>G (p.His190Arg) rs2147776445
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_006545.5(NPRL2):c.445_448+3del rs1575562076
NM_006545.5(NPRL2):c.491dup (p.Asp165fs) rs1703652698
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter) rs2109365845
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs) rs2109364484
NM_006545.5(NPRL2):c.907del (p.Gln303fs)
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del) rs2142822830
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln) rs2142839453
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1025G>A (p.Arg342His) rs1002125753
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) rs1597718106
NM_006565.4(CTCF):c.1118A>C (p.His373Pro) rs2142847343
NM_006565.4(CTCF):c.1119T>A (p.His373Gln) rs2142847350
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr) rs2142849459
NM_006565.4(CTCF):c.1365C>G (p.His455Gln) rs1597725291
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter) rs2142887156
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter) rs2052056277
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
NM_006565.4(CTCF):c.782-1G>A
NM_006565.4(CTCF):c.782-1G>C rs2142827936
NM_006565.4(CTCF):c.782-1G>T rs2142827936
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006565.4(CTCF):c.867_868dup (p.Asp290fs)
NM_006565.4(CTCF):c.881A>C (p.His294Pro) rs2052068772
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) rs1161257134
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser) rs2052136913
NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter) rs1768394971
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs) rs1553511226
NM_006593.4(TBR1):c.553C>T (p.Gln185Ter) rs1553510182
NM_006593.4(TBR1):c.933_934insCAAAGGA (p.Thr312fs) rs1684167000
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) rs1572705473
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
NM_006734.4(HIVEP2):c.117del (p.Phe39fs)
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) rs869312847
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
NM_006734.4(HIVEP2):c.2925del (p.His975fs)
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
NM_006734.4(HIVEP2):c.4036G>T (p.Gly1346Ter) rs1775510548
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
NM_006734.4(HIVEP2):c.5188-1del
NM_006734.4(HIVEP2):c.5620+1GT[2] rs1775234925
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter) rs1554275163
NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs) rs1774993424
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) rs1554274371
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_006765.4(TUSC3):c.568-2A>G rs2129179995
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter) rs1211232252
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) rs1821677152
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) rs2150855326
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006772.2(SYNGAP1):c.1532_1534del rs1760930568
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg) rs1554121265
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer) rs1760904978
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter) rs2151170014
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser) rs1760905358
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter) rs1561785045
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro) rs1581987885
NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs) rs2151170227
NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)
NM_006772.3(SYNGAP1):c.1393_1395dup (p.Leu465_Ser466insLeu)
NM_006772.3(SYNGAP1):c.1394T>C (p.Leu465Pro) rs2151170996
NM_006772.3(SYNGAP1):c.1403T>A (p.Met468Lys) rs763770519
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg) rs2151171287
NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)
NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro) rs1760918521
NM_006772.3(SYNGAP1):c.1532-1G>A rs1760930644
NM_006772.3(SYNGAP1):c.1532-1G>C rs1760930644
NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala) rs1760931697
NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs) rs2151172438
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro) rs1480178032
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro) rs1554121453
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1677-2A>G rs2151180361
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.189+1G>A
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.1913+1G>A rs2151181124
NM_006772.3(SYNGAP1):c.1913+2_1913+5del rs2151181120
NM_006772.3(SYNGAP1):c.1914-1G>A
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr) rs1485749468
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro) rs1581992998
NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro) rs2151182679
NM_006772.3(SYNGAP1):c.2104_2115+14del rs1064792984
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) rs1761049027
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2294+1G>C
NM_006772.3(SYNGAP1):c.2337-1G>A
NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs) rs1761096151
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg) rs1761103512
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys) rs1761113561
NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser) rs2151190466
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) rs1057518796
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) rs1200128322
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs) rs1581997098
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter) rs1554122400
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu) rs875989808
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs) rs1554304254
NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter) rs2151193128
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter)
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs) rs1554122735
NM_006772.3(SYNGAP1):c.3795-1G>C rs1761241410
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=) rs767126748
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) rs998489108
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys) rs1554120589
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs)
NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)
NM_006772.3(SYNGAP1):c.663+1G>T rs1064797322
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro) rs2151161955
NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter) rs1554120974
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro) rs1400108198
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg) rs1581987022
NM_006772.3(SYNGAP1):c.847del (p.Glu283fs) rs2151168593
NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His) rs2151168637
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro) rs1561784553
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) rs1554121202
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp) rs1760890843
NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg) rs1760891950
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) rs797045221
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006852.6(TLK2):c.1412A>G (p.His471Arg) rs1567974030
NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp)
NM_006852.6(TLK2):c.1487A>G (p.His496Arg) rs1567995650
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg) rs2147165095
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) rs2082811958
NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro)
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln) rs2147165727
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn) rs1568006217
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg) rs1568018905
NM_006852.6(TLK2):c.31C>T (p.Arg11Ter) rs2144333874
NM_006852.6(TLK2):c.585C>A (p.Cys195Ter) rs2146204977
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro) rs1745058899
NM_006859.4(LIAS):c.218+1G>A
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn) rs1744715983
NM_006859.4(LIAS):c.643del (p.Asp215fs) rs1744806313
NM_006859.4(LIAS):c.884-1G>A rs201155530
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_006908.5(RAC1):c.168G>C (p.Trp56Cys) rs1783105049
NM_006908.5(RAC1):c.190T>C (p.Tyr64His)
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) rs1783105291
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe) rs2115201430
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro) rs2105776898
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe) rs2105772689
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) rs1574159505
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) rs755159935
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile) rs2105636234
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs) rs2105635851
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln) rs1199412903
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser) rs2105621618
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys) rs2105621335
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006922.4(SCN3A):c.5621T>G (p.Met1874Arg) rs1685039783
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro) rs1553537132
NM_006922.4(SCN3A):c.694+1G>T rs2105892972
NM_006922.4(SCN3A):c.694+2T>G
NM_006940.4:c.1489-7709_1771+1399del
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter) rs1420871345
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu) rs797046006
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln) rs2135526204
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) rs1940772032
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr) rs875989881
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter) rs2135319250
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) rs1941829953
NM_006950.3(SYN1):c.1158+1G>T
NM_006950.3(SYN1):c.1159-2A>G
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1471del (p.Gln491fs) rs2147912333
NM_006950.3(SYN1):c.2028C>T (p.Ala676=) rs2057764630
NM_006950.3(SYN1):c.314del (p.Gly105fs) rs1603078587
NM_006950.3(SYN1):c.378-1G>A rs2057900552
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.838-2A>G rs2147913419
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813
NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer) rs2152305937
NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter) rs140745100
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2570dup (p.Asn857fs) rs2152340697
NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile) rs1745368018
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3570+3G>A rs2152354197
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs) rs1554068529
NM_007118.4(TRIO):c.3908C>T (p.Thr1303Ile) rs1746764895
NM_007118.4(TRIO):c.4085A>G (p.Tyr1362Cys)
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe) rs1579522661
NM_007118.4(TRIO):c.4300C>T (p.Leu1434Phe) rs1747352673
NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu) rs1747667518
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter) rs748670822
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.4495del (p.Thr1499fs) rs2152373759
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)
NM_007118.4(TRIO):c.4860-2A>G rs1579564431
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile) rs2126522675
NM_007118.4(TRIO):c.5763+1G>T
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007118.4(TRIO):c.6153+1G>A rs1755124330
NM_007118.4(TRIO):c.651_652del (p.Arg217fs) rs1736840999
NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs) rs2126611738
NM_007118.4(TRIO):c.704del (p.Glu235fs) rs2152284932
NM_007118.4(TRIO):c.7050del (p.Val2351fs)
NM_007118.4(TRIO):c.7317_7345del (p.Ser2440fs)
NM_007118.4(TRIO):c.757dup (p.Ala253fs)
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)
NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)
NM_007198.4(PLPBP):c.695C>T (p.Ala232Val)
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1296_1298+13del
NM_007254.4(PNKP):c.1298+1G>A rs149614720
NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.199-2A>G rs1391913873
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.829dup (p.Thr277fs)
NM_007254.4(PNKP):c.865+1G>T
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) rs1553122929
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro) rs2151432401
NM_007262.5(PARK7):c.90+1dup rs1578089802
NM_007289.4(MME):c.1095-2A>C rs2108312675
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter) rs2147383715
NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007325.5(GRIA3):c.307G>T (p.Gly103Ter)
NM_007327.4(GRIN1):c.1113+2T>C
NM_007327.4(GRIN1):c.1340-1del
NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)
NM_007327.4(GRIN1):c.1467+2T>G
NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg)
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg) rs1554770046
NM_007327.4(GRIN1):c.1667A>G (p.Gln556Arg) rs1833594325
NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser) rs1833598160
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) rs1564363665
NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe) rs2131298649
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg) rs1833614590
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val)
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala) rs1393555703
NM_007327.4(GRIN1):c.1918G>C (p.Ala640Pro)
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val) rs2131299136
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr) rs1588732344
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) rs1554770243
NM_007327.4(GRIN1):c.1931T>C (p.Val644Ala)
NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His) rs1833621750
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln) rs2131299400
NM_007327.4(GRIN1):c.2013+2T>G
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) rs1833635820
NM_007327.4(GRIN1):c.2171+1G>A
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) rs1554770444
NM_007327.4(GRIN1):c.2377G>T (p.Val793Phe)
NM_007327.4(GRIN1):c.2380C>G (p.Arg794Gly) rs1423513108
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_007327.4(GRIN1):c.2381G>C (p.Arg794Pro)
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) rs1554770589
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile) rs1554770590
NM_007327.4(GRIN1):c.2444-2_2448del
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_007327.4(GRIN1):c.2446G>T (p.Val816Phe)
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu) rs1554770628
NM_007327.4(GRIN1):c.2453T>G (p.Met818Arg)
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007327.4(GRIN1):c.2815T>G (p.Ter939Gly)
NM_007327.4(GRIN1):c.352G>A (p.Val118Met) rs1588686286
NM_007327.4(GRIN1):c.421G>A (p.Val141Met) rs1293947350
NM_007327.4(GRIN1):c.448G>A (p.Val150Met) rs1187375556
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
NM_007327.4(GRIN1):c.969-1G>C
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter) rs1555462184
NM_007363.5(NONO):c.1191_1192del (p.Asn397fs) rs2031508845
NM_007363.5(NONO):c.1242del (p.Gly415fs) rs2148040741
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.315_318del (p.His106fs) rs2148033533
NM_007363.5(NONO):c.322_348+280del rs2148033540
NM_007363.5(NONO):c.651-1G>C rs2031456898
NM_012062.5(DNM1L):c.1049G>C (p.Gly350Ala)
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser) rs1954520736
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu) rs1592661973
NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys) rs1057518694
NM_012062.5(DNM1L):c.115A>C (p.Ser39Arg)
NM_012062.5(DNM1L):c.1247T>C (p.Leu416Pro)
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) rs879253874
NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) rs1565548029
NM_012062.5(DNM1L):c.2161C>T (p.Gln721Ter)
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg) rs1952997134
NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg)
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
NM_012179.4(FBXO7):c.1183-2_1183-1del
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter) rs2146009225
NM_012179.4(FBXO7):c.418-1G>C
NM_012179.4(FBXO7):c.418-2A>G
NM_012179.4(FBXO7):c.418-2A>T
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012199.5(AGO1):c.2252A>T (p.His751Leu) rs2148725560
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe) rs2148726029
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg) rs1645264815
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys) rs2148711374
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) rs2148711383
NM_012199.5(AGO1):c.650-2A>G rs1645271555
NM_012199.5(AGO1):c.758G>A (p.Arg253His) rs1645273962
NM_012199.5(AGO1):c.760G>A (p.Val254Ile) rs1645274152
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs) rs1907323150
NM_012216.4(MID2):c.2070del (p.Phe691fs) rs1933190705
NM_012281.3(KCND2):c.1215T>G (p.Ile405Met) rs1273708047
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) rs1569234334
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) rs1554846212
NM_012479.4(YWHAG):c.170G>A (p.Arg57His) rs2115589045
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
NM_012479.4(YWHAG):c.683A>T (p.Asp228Val) rs1803513587
NM_013254.4(TBK1):c.2107G>T (p.Glu703Ter) rs1565825132
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter) rs2151766442
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs) rs2151766359
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)
NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)
NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs) rs2151763094
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter) rs2151762320
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1974_1977dup (p.Glu660fs)
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala) rs1597462279
NM_013275.6(ANKRD11):c.2063dup (p.His689fs)
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter) rs2151761457
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs) rs2034502951
NM_013275.6(ANKRD11):c.211_226+1del
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs) rs2034490973
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) rs2034487965
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs) rs1597459998
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs) rs2034464204
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.2647del (p.Glu883fs) rs2151758908
NM_013275.6(ANKRD11):c.277_283dup (p.Gly95fs)
NM_013275.6(ANKRD11):c.2853_2856del (p.Lys952fs) rs2151757918
NM_013275.6(ANKRD11):c.291del (p.Phe98fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
NM_013275.6(ANKRD11):c.3547_3548del (p.Asp1183fs)
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs) rs2034308476
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs) rs2034289118
NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs) rs2034142706
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln) rs763207005
NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)
NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)
NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs) rs2034054366
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)
NM_013275.6(ANKRD11):c.6739_6740insCC (p.Glu2247fs)
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter) rs1168428802
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs) rs2151733047
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter) rs863225296
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter) rs886042019
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly) rs1064795497
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro) rs781584370
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter) rs370673579
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn) rs2151783410
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu) rs2151703297
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7544T>C (p.Leu2515Pro) rs2151703162
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys) rs2033533123
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys) rs2151701503
NM_013275.6(ANKRD11):c.7714-1G>C rs2151676035
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro) rs2151675756
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter) rs2033085976
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter) rs972669347
NM_013275.6(ANKRD11):c.893-2A>G rs2151766883
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_013436.5(NCKAP1):c.155del (p.Asn52fs)
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) rs1589088702
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014141.6(CNTNAP2):c.97+3A>T rs1584757170
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_014191.4(SCN8A):c.615-1G>A rs1555217342
NM_014191.4(SCN8A):c.615-2A>C rs1060504137
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699
NM_014236.4(GNPAT):c.1058dup (p.Tyr353Ter)
NM_014236.4(GNPAT):c.1121del (p.Glu374fs)
NM_014236.4(GNPAT):c.1279+1G>T
NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter)
NM_014236.4(GNPAT):c.1387del (p.Glu463fs)
NM_014236.4(GNPAT):c.1482del (p.Leu494_Val495insTer)
NM_014236.4(GNPAT):c.1621del (p.Tyr541fs)
NM_014236.4(GNPAT):c.1622dup (p.Tyr541Ter)
NM_014236.4(GNPAT):c.1718_1719del (p.Leu572_Phe573insTer)
NM_014236.4(GNPAT):c.1743+1G>T
NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter)
NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)
NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)
NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter) rs1685194348
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) rs1571946866
NM_014236.4(GNPAT):c.574del (p.Leu192fs)
NM_014236.4(GNPAT):c.807_808del (p.Glu271fs)
NM_014236.4(GNPAT):c.874_877del (p.Leu292fs)
NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter)
NM_014271.4(IL1RAPL1):c.1075del (p.Glu359fs) rs2147251555
NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs) rs2147258610
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) rs122461161
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter) rs781674023
NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs) rs2147259265
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs) rs1933958646
NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln) rs376408289
NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln) rs1305972382
NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg) rs2148539394
NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu) rs762580458
NM_014334.4(FRRS1L):c.239-2A>G rs1831307625
NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)
NM_014334.4(FRRS1L):c.463-2A>G rs1564229228
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter) rs779716535
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014334.4(FRRS1L):c.69del (p.Ala24fs)
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395
NM_014363.6(SACS):c.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer) rs1555250191
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
NM_014363.6(SACS):c.10536del (p.Ile3513fs) rs1555250183
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) rs1883571494
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) rs1555249966
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11261del (p.Asn3754fs)
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11282del (p.Leu3761fs) rs2137567996
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
NM_014363.6(SACS):c.11506_11521del (p.His3836fs) rs1555249878
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter) rs1555249881
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) rs1555249789
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
NM_014363.6(SACS):c.12150del (p.Phe4050fs) rs1555249662
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) rs1555249633
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) rs1555249607
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs) rs1555249599
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
NM_014363.6(SACS):c.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
NM_014363.6(SACS):c.12779del (p.Ser4260fs) rs1555249460
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs) rs1555249338
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) rs1555249326
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs) rs1883405453
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) rs753277514
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) rs745961541
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) rs2137720760
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.171+1G>A
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs)
NM_014363.6(SACS):c.172-2A>G
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu) rs2137718533
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2185+1G>T
NM_014363.6(SACS):c.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
NM_014363.6(SACS):c.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
NM_014363.6(SACS):c.23G>A (p.Trp8Ter) rs1871684539
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) rs1555252929
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) rs1555252928
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) rs1555252926
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
NM_014363.6(SACS):c.257del (p.Gly86fs)
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)
NM_014363.6(SACS):c.2620del (p.Ser874fs)
NM_014363.6(SACS):c.2627_2631del (p.Val876fs) rs1555252844
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) rs1057516829
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2829dup (p.Leu944fs) rs1869162207
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) rs1057517034
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer) rs2137637877
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3557del (p.Met1186fs)
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) rs756963289
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) rs1555252458
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) rs1555252448
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) rs768209419
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.4684del (p.Ser1562fs) rs1275667662
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp) rs1305721973
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.497del (p.Pro166fs)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) rs1868917066
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs) rs1057517305
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) rs1555252184
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) rs1555252142
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.529A>T (p.Arg177Ter)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
NM_014363.6(SACS):c.542del (p.Lys181fs)
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5492del (p.Lys1831fs) rs1868862742
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
NM_014363.6(SACS):c.554_555del (p.Leu185fs)
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.563_564del (p.Gly188fs)
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter) rs2137616679
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5719del (p.Arg1907fs) rs1555252055
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.579del (p.Phe194fs)
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
NM_014363.6(SACS):c.5972dup (p.Arg1992fs) rs2137613912
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.604+1_604+4del
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) rs1408290451
NM_014363.6(SACS):c.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.622_640del (p.Ser208fs)
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) rs1555251818
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) rs201690040
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.654del (p.Gln219fs)
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs) rs2137606577
NM_014363.6(SACS):c.6804del (p.Phe2268fs) rs1057517301
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.708del (p.Asp236fs)
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) rs747676277
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.742_743del (p.Ala248fs)
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter) rs140034972
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs) rs2137599071
NM_014363.6(SACS):c.7634del (p.Met2545fs)
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) rs1057517014
NM_014363.6(SACS):c.7868del (p.Gly2623fs) rs1555251301
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) rs1555251241
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) rs1555250949
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) rs1057517020
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) rs1057516853
NM_014363.6(SACS):c.8873del (p.Lys2958fs) rs765992922
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs)
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.964G>T (p.Glu322Ter) rs1593145590
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) rs2137582027
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.998_999del (p.Val333fs)
NM_014363.6(SACS):c.[7504C>T;8132C>T]
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) rs549149043
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro) rs764483792
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) rs1599751192
NM_014687.4(RUBCN):c.1847+2T>G
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
NM_014704.4(CEP104):c.1485+1G>A
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
NM_014704.4(CEP104):c.182del (p.Leu61fs)
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs) rs1189678912
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
NM_014712.3(SETD1A):c.2330_2337del (p.Ala777fs) rs2056144779
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter) rs1969025340
NM_014795.4(ZEB2):c.-69-2A>C
NM_014795.4(ZEB2):c.1168del (p.Ile390fs) rs1553961747
NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs) rs1703278635
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)
NM_014795.4(ZEB2):c.2384del (p.Asn795fs) rs2149876640
NM_014795.4(ZEB2):c.247dup (p.Glu83fs) rs1553964145
NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter) rs2149876315
NM_014795.4(ZEB2):c.2866C>T (p.Gln956Ter)
NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)
NM_014795.4(ZEB2):c.2932G>T (p.Asp978Tyr) rs863224942
NM_014795.4(ZEB2):c.2973del (p.Lys992fs) rs1703231315
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys) rs1553961332
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3067+2T>G
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr) rs1553960788
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg) rs1573708153
NM_014795.4(ZEB2):c.3133C>T (p.His1045Tyr) rs1703135134
NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg) rs1114167349
NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys) rs1135402759
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter) rs1423851170
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter) rs1703133912
NM_014795.4(ZEB2):c.3227dup (p.His1076fs)
NM_014795.4(ZEB2):c.329del (p.Pro110fs)
NM_014795.4(ZEB2):c.332-3C>G
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
NM_014795.4(ZEB2):c.564del (p.Pro189fs)
NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter) rs1451961075
NM_014795.4(ZEB2):c.66del (p.Asn24fs) rs2149935119
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr) rs1703306516
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014795.4(ZEB2):c.899A>G (p.His300Arg) rs1573718595
NM_014795.4(ZEB2):c.916+1G>T rs2149877941
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) rs765514069
NM_014822.4(SEC24D):c.697G>C (p.Gly233Arg) rs730882211
NM_014874.4(MFN2):c.2220G>A (p.Trp740Ter) rs1060501925
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)
NM_014921.5(ADGRL1):c.1022A>G (p.Tyr341Cys) rs1395589626
NM_014921.5(ADGRL1):c.26G>A (p.Trp9Ter) rs1971372172
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter) rs2147191275
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter) rs2092414327
NM_014927.5(CNKSR2):c.1657+1G>A
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)
NM_014927.5(CNKSR2):c.228+1G>A
NM_014989.7(RIMS1):c.1679-20550G>A
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) rs1749810683
NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs) rs2148740878
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
NM_015015.3(KDM4B):c.1198_1222del (p.Ala399_Leu400insTer)
NM_015015.3(KDM4B):c.1316-1G>A
NM_015015.3(KDM4B):c.2343dup (p.Gly782fs)
NM_015015.3(KDM4B):c.2440_2441+1del rs1231991589
NM_015015.3(KDM4B):c.2441+1G>A rs746714213
NM_015015.3(KDM4B):c.2550+2T>C
NM_015015.3(KDM4B):c.2661_2677del (p.Val888fs)
NM_015015.3(KDM4B):c.2935G>T (p.Glu979Ter)
NM_015015.3(KDM4B):c.994_998del (p.Leu332fs)
NM_015021.3(ZNF292):c.1787_1790del (p.Ser596fs) rs1775154516
NM_015021.3(ZNF292):c.2038_2041del (p.Glu680fs)
NM_015021.3(ZNF292):c.2404C>T (p.Gln802Ter)
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs) rs1775236367
NM_015021.3(ZNF292):c.3319C>T (p.Arg1107Ter) rs2127862686
NM_015021.3(ZNF292):c.3491C>G (p.Ser1164Ter)
NM_015021.3(ZNF292):c.3862dup (p.Ser1288fs) rs2127864363
NM_015021.3(ZNF292):c.4189C>T (p.Arg1397Ter)
NM_015021.3(ZNF292):c.4862del (p.Asn1621fs) rs2127867444
NM_015021.3(ZNF292):c.4973_4974del (p.Ile1658fs)
NM_015021.3(ZNF292):c.5367_5370del (p.Asn1790fs)
NM_015021.3(ZNF292):c.5650C>T (p.Gln1884Ter)
NM_015021.3(ZNF292):c.5906_5909del (p.Gln1969fs) rs2127870787
NM_015021.3(ZNF292):c.5998_6008del (p.Ser2000fs) rs2127871067
NM_015021.3(ZNF292):c.6015dup (p.Lys2006fs) rs2127871142
NM_015021.3(ZNF292):c.6145del (p.Ser2049fs)
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015021.3(ZNF292):c.61G>C (p.Glu21Gln)
NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)
NM_015021.3(ZNF292):c.870C>A (p.Tyr290Ter) rs867732475
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5276del (p.Val1759fs)
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919
NM_015046.7(SETX):c.6208+2dup
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) rs759299299
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6842+1G>T rs1038776365
NM_015046.7(SETX):c.6843-3_6843-1del rs1186690391
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter) rs1339011741
NM_015046.7(SETX):c.7100+2T>C
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015076.5(CDK19):c.589T>C (p.Phe197Leu) rs1779473436
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys) rs1779473213
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) rs1783518295
NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys) rs1783517622
NM_015087.5(SPART):c.1450dup (p.Thr484fs) rs730882198
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter) rs1657533128
NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015100.4(POGZ):c.1524-3C>G rs367963956
NM_015100.4(POGZ):c.1679-3C>G rs376091120
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro) rs1057519392
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
NM_015100.4(POGZ):c.1A>G (p.Met1Val) rs2102371063
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs) rs1654056152
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs) rs2102164714
NM_015100.4(POGZ):c.2400dup (p.Lys801fs) rs1653809027
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs) rs1653807656
NM_015100.4(POGZ):c.2433-1G>C
NM_015100.4(POGZ):c.2469del (p.Thr824fs) rs1653766307
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
NM_015100.4(POGZ):c.2520_2521del (p.His840fs) rs886042027
NM_015100.4(POGZ):c.2545+1del rs1571332089
NM_015100.4(POGZ):c.2545+2del rs2102155019
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) rs2102152736
NM_015100.4(POGZ):c.2574del (p.His858fs) rs1653647344
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
NM_015100.4(POGZ):c.2836del (p.Asp946fs) rs1571326296
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs) rs1653497680
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs) rs2102145038
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015100.4(POGZ):c.62del (p.Ile21fs) rs1660633733
NM_015100.4(POGZ):c.64del (p.Ser22fs) rs2102370816
NM_015100.4(POGZ):c.692del (p.Ile231fs) rs1658105150
NM_015100.4(POGZ):c.7del (p.Asp3fs)
NM_015107.3(PHF8):c.1995+1G>A
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_015107.3(PHF8):c.2455del (p.Leu819fs) rs2065126287
NM_015125.5(CIC):c.3617del (p.Gln1206fs) rs2147320674
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter) rs779530889
NM_015151.4(DIP2A):c.1429+2T>G
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
NM_015166.4(MLC1):c.1059+1G>T
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.177+1del
NM_015166.4(MLC1):c.178-2A>G
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)
NM_015166.4(MLC1):c.271_272del (p.Ile91fs) rs1057516336
NM_015166.4(MLC1):c.299_423+108del rs1602049346
NM_015166.4(MLC1):c.321+1G>T rs765879182
NM_015166.4(MLC1):c.321+2T>C
NM_015166.4(MLC1):c.321+2T>G
NM_015166.4(MLC1):c.322-1G>T
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter) rs1458824689
NM_015166.4(MLC1):c.346_349del (p.Val116fs)
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter) rs2062078281
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter) rs2062077684
NM_015166.4(MLC1):c.3G>A (p.Met1Ile)
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter) rs2062076867
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.423+2dup rs1555967668
NM_015166.4(MLC1):c.42del (p.Met15fs) rs1555968785
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu) rs1219458189
NM_015166.4(MLC1):c.489dup (p.Ala164fs)
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter) rs766461175
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)
NM_015166.4(MLC1):c.526-2A>G
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter) rs761502278
NM_015166.4(MLC1):c.592del (p.Tyr198fs)
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)
NM_015166.4(MLC1):c.624_625del (p.Ala209fs) rs1057517375
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.639dup (p.Ile214fs) rs1449444164
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer)
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
NM_015166.4(MLC1):c.759del (p.Ser254fs)
NM_015166.4(MLC1):c.791dup (p.Ser265fs)
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg) rs777790290
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter) rs121908341
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter) rs1057516286
NM_015166.4(MLC1):c.848del (p.Ile283fs)
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)
NM_015166.4(MLC1):c.894+1G>A
NM_015166.4(MLC1):c.895-1G>C rs755271052
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015192.4(PLCB1):c.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1514-1G>A
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.1888+1G>A
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2656+1G>T
NM_015192.4(PLCB1):c.464+1G>A
NM_015192.4(PLCB1):c.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015192.4(PLCB1):c.862+1G>A
NM_015213.4(DENND5A):c.2660G>A (p.Trp887Ter)
NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter) rs2149221667
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp) rs1135401818
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys) rs863224853
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter) rs886041635
NM_015215.4(CAMTA1):c.438+1G>A
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn) rs776553769
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter) rs2096866859
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter) rs2150160606
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter) rs2150160765
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter) rs1553280067
NM_015215.4(CAMTA1):c.800del (p.Ser267fs) rs1553238311
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015267.4(CUX2):c.560del (p.Lys187fs)
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015272.5(RPGRIP1L):c.529+1688_609del
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015275.3(WASHC4):c.1038+1G>T rs1881282106
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
NM_015294.6(TRIM37):c.1019+2dup
NM_015294.6(TRIM37):c.1020-1G>C
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) rs386833999
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) rs1599230814
NM_015294.6(TRIM37):c.123+1G>A
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter) rs757148418
NM_015294.6(TRIM37):c.1289dup (p.Gln431fs)
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)
NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs)
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)
NM_015294.6(TRIM37):c.165-2A>G
NM_015294.6(TRIM37):c.1668-1G>C
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter)
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_015294.6(TRIM37):c.1948+2T>C rs2145613542
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter)
NM_015294.6(TRIM37):c.2015dup (p.Leu672fs)
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs)
NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)
NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter)
NM_015294.6(TRIM37):c.2804del (p.Pro935fs)
NM_015294.6(TRIM37):c.370-1G>A
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter)
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) rs1568191596
NM_015294.6(TRIM37):c.609_610del (p.Leu204fs)
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter)
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter)
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_015294.6(TRIM37):c.937del (p.Tyr313fs)
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter)
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) rs386834009
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) rs2137404791
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs)
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2239-11T>G rs2137373566
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) rs1057524103
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) rs2137307992
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) rs1878068615
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) rs2137306954
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) rs2137306817
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
NM_015335.5(MED13L):c.392_395del (p.Glu131fs) rs1874072493
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) rs2137278830
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) rs2137274539
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.5364+1G>T
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) rs1876855942
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) rs2137241977
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter) rs1879951118
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs) rs886042532
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) rs2123267182
NM_015338.6(ASXL1):c.1751dup (p.Val585fs) rs748946310
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) rs765327792
NM_015338.6(ASXL1):c.2558del (p.Pro853fs)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) rs1600592990
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) rs2011469981
NM_015338.6(ASXL1):c.69del (p.Tyr24fs) rs2048205050
NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter) rs2101615505
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter) rs752359125
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val) rs868354311
NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp) rs1645392057
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu) rs779850187
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter) rs202180923
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)
NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe) rs1474624774
NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu) rs2100847449
NM_015557.3(CHD5):c.4079-3C>G rs1434726192
NM_015557.3(CHD5):c.4171+1G>C rs2100843382
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met) rs371488822
NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val) rs2100842233
NM_015557.3(CHD5):c.578G>A (p.Arg193Gln) rs1667056923
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2516del (p.Pro839fs) rs2071360713
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) rs2071377438
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter) rs2071295138
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter) rs2129556993
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs) rs1789811451
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) rs869312878
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) rs1563183469
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr) rs1563183492
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro) rs1585653240
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln) rs1383001370
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
NM_015570.4(AUTS2):c.2005-1G>C
NM_015570.4(AUTS2):c.2224+1G>T
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter) rs2129540473
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015656.2(KIF26A):c.3996C>A (p.Cys1332Ter)
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys) rs11552864
NM_015836.4(WARS2):c.368T>G (p.Leu123Ter)
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val) rs779607303
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala) rs2150280830
NM_015981.4(CAMK2A):c.598+2dup rs1554122123
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp) rs2150315525
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del) rs2150279502
NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016023.5(OTUD6B):c.401A>G (p.Glu134Gly)
NM_016023.5(OTUD6B):c.481A>T (p.Lys161Ter) rs767217536
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) rs1064797103
NM_016023.5(OTUD6B):c.731T>G (p.Ile244Arg) rs2130446714
NM_016032.4(ZDHHC9):c.167+1G>A
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter) rs1927638009
NM_016032.4(ZDHHC9):c.881+1G>C rs1927636898
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016100.5(NAA20):c.160A>G (p.Met54Val) rs2146464332
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) rs786205133
NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys) rs2079618652
NM_016120.4(RLIM):c.1729T>C (p.Tyr577His) rs1569309484
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn) rs1569309460
NM_016120.4(RLIM):c.992G>A (p.Gly331Glu) rs2147372360
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)
NM_016169.4(SUFU):c.1023-2A>T rs1060501105
NM_016169.4(SUFU):c.1157+1G>A
NM_016169.4(SUFU):c.1365+1G>A rs2063794106
NM_016169.4(SUFU):c.182+1G>A rs2135598885
NM_016169.4(SUFU):c.182+3A>C rs1589970228
NM_016169.4(SUFU):c.183-1G>A rs1554841447
NM_016169.4(SUFU):c.183-1G>T
NM_016169.4(SUFU):c.183-2A>C rs2135619894
NM_016169.4(SUFU):c.183-4_247del
NM_016169.4(SUFU):c.317+1G>A rs2135621012
NM_016169.4(SUFU):c.318-1G>C rs2135742927
NM_016169.4(SUFU):c.597+1G>C rs1590062006
NM_016169.4(SUFU):c.683+1G>A rs2135870923
NM_016169.4(SUFU):c.684-2A>G rs1590063305
NM_016169.4(SUFU):c.911-1G>T
NM_016169.4(SUFU):c.911-2A>C
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg) rs2131330754
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) rs929755522
NM_016188.5(ACTL6B):c.369+1G>C
NM_016188.5(ACTL6B):c.497T>C (p.Val166Ala)
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter) rs1584468891
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
NM_016188.5(ACTL6B):c.70C>T (p.Arg24Cys)
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) rs141640000
NM_016188.5(ACTL6B):c.85G>A (p.Gly29Arg)
NM_016188.5(ACTL6B):c.880T>G (p.Tyr294Asp)
NM_016188.5(ACTL6B):c.884G>A (p.Gly295Asp)
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016219.5(MAN1B1):c.219+1G>A rs2130983856
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.917-2_921del
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser) rs2083259164
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter) rs2151940462
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter) rs1575094649
NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)
NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)
NM_016359.5(NUSAP1):c.1209C>A (p.Tyr403Ter) rs2140875089
NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter) rs751181600
NM_016373.4(WWOX):c.605+1_605+2delinsAA rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.791+1G>A rs1164465811
NM_016373.4(WWOX):c.791+1G>T rs1164465811
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016373.4(WWOX):c.929G>C (p.Arg310Pro) rs765339835
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
NM_016529.6(ATP8A2):c.1474-2del rs2138177530
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.1868-2A>G rs2039720333
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) rs1593576872
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) rs1593410369
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_016529.6(ATP8A2):c.3469+1G>C rs763272441
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) rs2038343394
NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter) rs531630376
NM_016604.4(KDM3B):c.3047-1G>A
NM_016614.3(TDP2):c.635_636+2del rs2127617300
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_016955.4(SEPSECS):c.1028_1120+1del rs1553878395
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter) rs2149876234
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017619.4(RNPC3):c.894-2A>G
NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs) rs2153039957
NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer) rs1856229182
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)
NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe) rs2153052371
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs) rs1971392241
NM_017721.5(CC2D1A):c.2711-2A>G
NM_017721.5(CC2D1A):c.378+137_1641+1157del
NM_017721.5(CC2D1A):c.61-2A>G
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs) rs762288077
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp) rs1403893283
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs) rs1579377990
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.195dup (p.Met66fs)
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) rs2093214695
NM_017882.3(CLN6):c.297+1G>A rs796052351
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
NM_017882.3(CLN6):c.298-1G>C rs1595818391
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.322del (p.Leu108fs)
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
NM_017882.3(CLN6):c.385dup (p.Val129fs)
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) rs2093205953
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.486+1G>C rs756522171
NM_017882.3(CLN6):c.487-1G>T
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) rs2093204342
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) rs2141138753
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.542+2T>C
NM_017882.3(CLN6):c.543-2A>G rs2141137336
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) rs2141135900
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>A (p.Pro299His) rs758921701
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter) rs759380520
NM_018002.3(OXR1):c.[1100C>G;2082+1G>T]
NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
NM_018129.4(PNPO):c.138+1G>A
NM_018129.4(PNPO):c.264-2A>G rs780977054
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys) rs1483600034
NM_018129.4(PNPO):c.352G>A (p.Gly118Arg)
NM_018129.4(PNPO):c.418-1G>C rs2144165139
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys) rs146027425
NM_018129.4(PNPO):c.547-1G>A
NM_018129.4(PNPO):c.547-2A>T rs796052869
NM_018129.4(PNPO):c.563dup (p.Asn188fs)
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
NM_018294.6(CWF19L1):c.1045-2A>C
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter) rs1554902760
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs) rs1589611043
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter) rs1846799593
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) rs1603060007
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter) rs1198775988
NM_018489.3(ASH1L):c.2126dup (p.Leu709fs) rs2148727707
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs) rs1558150870
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter) rs1553265154
NM_018489.3(ASH1L):c.3976dup (p.Ser1326fs) rs2148721714
NM_018489.3(ASH1L):c.4065_4072del (p.Met1356fs) rs2148721365
NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
NM_018489.3(ASH1L):c.6019C>T (p.Arg2007Ter)
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter) rs2148443341
NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)
NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr) rs770740586
NM_018713.3(SLC30A10):c.392T>G (p.Leu131Arg)
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.98-2A>G
NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu) rs1250995341
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser) rs200024646
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn) rs2145795264
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu) rs2145968180
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn) rs2146373286
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) rs2039524843
NM_018938.4(PCDHB4):c.915del (p.Lys305fs) rs372292910
NM_018941.3(CLN8):c.[208C>T;792C>G]
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]
NM_018941.4(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.4(CLN8):c.204del (p.Thr69fs) rs1554449028
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter) rs1554449047
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg) rs386834125
NM_018941.4(CLN8):c.263del (p.Asp88fs) rs1057516582
NM_018941.4(CLN8):c.2T>C (p.Met1Thr) rs1554448874
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter) rs1554449124
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter) rs1554449136
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser) rs386834126
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter) rs554042394
NM_018941.4(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.4(CLN8):c.43del (p.Asp15fs)
NM_018941.4(CLN8):c.464C>T (p.Ala155Val) rs386834128
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser) rs386834130
NM_018941.4(CLN8):c.47del (p.Leu16fs) rs1057516867
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.50del (p.Asp17fs) rs1554448924
NM_018941.4(CLN8):c.544-1G>T
NM_018941.4(CLN8):c.544-2A>G rs1554451484
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg) rs386834133
NM_018941.4(CLN8):c.593_596dup (p.Met200fs) rs1801672516
NM_018941.4(CLN8):c.594del (p.His199fs) rs1554451504
NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del) rs386834135
NM_018941.4(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
NM_018941.4(CLN8):c.725del (p.Thr242fs) rs2129015276
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter) rs746397087
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu) rs386834138
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_018941.4(CLN8):c.88del (p.Ala30fs) rs386834139
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) rs1567739042
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn) rs2151558358
NM_019023.5(PRMT7):c.457dup (p.Glu153fs) rs2151701931
NM_019023.5(PRMT7):c.927G>T (p.Gln309His) rs1597361540
NM_019026.6(TMCO1):c.493_494del (p.Ala165fs) rs1558027212
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter) rs1890387347
NM_019100.5(DMAP1):c.1024del (p.Glu342fs) rs750381568
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr) rs1928842837
NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala) rs1775232605
NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp) rs1776322078
NM_019842.4(KCNQ5):c.1667G>C (p.Gly556Ala)
NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter) rs1554201137
NM_019842.4(KCNQ5):c.545C>T (p.Ala182Val)
NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter) rs1426355851
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
NM_020247.5(COQ8A):c.1007del (p.Phe336fs) rs1085307053
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro) rs1433323183
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
NM_020247.5(COQ8A):c.32del (p.Val11fs)
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro) rs1659738028
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter) rs959109094
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) rs758022116
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) rs1943353362
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs) rs730882197
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter) rs1057518782
NM_020533.3(MCOLN1):c.777+1G>C rs1057518781
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His) rs1674312870
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) rs1553187362
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln) rs1674245097
NM_020699.4(GATAD2B):c.387del (p.Asp130fs) rs756062872
NM_020699.4(GATAD2B):c.420del (p.Arg141fs)
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.598-1G>A rs1674549557
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter) rs1570938113
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs) rs797045594
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter) rs868530644
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter) rs1588003652
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1337-2A>G
NM_020708.5(SLC12A5):c.147+1G>A
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.2012+1G>T rs2145497450
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
NM_020708.5(SLC12A5):c.3110+1G>A
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
NM_020708.5(SLC12A5):c.53-2A>C
NM_020708.5(SLC12A5):c.53-2A>G rs2084483775
NM_020708.5(SLC12A5):c.626C>T (p.Pro209Leu)
NM_020708.5(SLC12A5):c.854+1G>A
NM_020717.5(SHROOM4):c.4212+1G>A rs2147209054
NM_020738.4(KIDINS220):c.4497del (p.Arg1499fs) rs2147944830
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs) rs2107644554
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter) rs2114793034
NM_020806.5(GPHN):c.1293+2T>G rs2077665118
NM_020821.3(VPS13C):c.10576C>T (p.Arg3526Ter)
NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs) rs2140867780
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs)
NM_020821.3(VPS13C):c.1483+1G>A rs2046226928
NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter)
NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg) rs1831789627
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile) rs1057518066
NM_020822.3(KCNT1):c.1406A>C (p.His469Pro) rs1554774322
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) rs1554774322
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1424_1485dup (p.Asn496delinsProGlyProTer) rs2131497737
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln) rs1057522978
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2390G>T (p.Gly797Val)
NM_020822.3(KCNT1):c.2459C>T (p.Pro820Leu)
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020822.3(KCNT1):c.2839A>G (p.Lys947Glu) rs1057519544
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.3001A>T (p.Thr1001Ser) rs143780942
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) rs1831666357
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) rs1564354299
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys) rs587777264
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter) rs777893794
NM_020843.4(SCAPER):c.1116del (p.Val373fs) rs1598632432
NM_020843.4(SCAPER):c.125-1G>A rs2151864247
NM_020843.4(SCAPER):c.1495+1G>A rs1598598205
NM_020843.4(SCAPER):c.2166-3C>G rs1598279469
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) rs978336151
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs) rs1462082548
NM_020843.4(SCAPER):c.2653del (p.Glu885fs) rs1597752941
NM_020843.4(SCAPER):c.2955-1G>T rs2050148457
NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs) rs761149240
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs) rs1596596355
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs) rs1303625185
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) rs1484749107
NM_020905.4(RDH14):c.114dup (p.Gly39fs) rs779464218
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter) rs1592013653
NM_020987.5(ANK3):c.1863_1864del (p.Ala622fs)
NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter) rs1234025820
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_020987.5(ANK3):c.631C>T (p.Arg211Ter)
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del)
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del) rs2143705016
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.119-2_119-1del
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu) rs886041766
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) rs869312939
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu) rs2143272162
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) rs2143272260
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) rs1596867702
NM_020988.3(GNAO1):c.464+2T>C rs2143647375
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro) rs2143660403
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln) rs2037724743
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys) rs2036182701
NM_020988.3(GNAO1):c.593+1G>A
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) rs2143664881
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg) rs546569747
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys) rs2037919953
NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln) rs797044951
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) rs1114167431
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile)
NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys) rs2143699686
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn) rs758779535
NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr) rs2143699701
NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) rs1590028691
NM_021008.4(DEAF1):c.613G>C (p.Val205Leu) rs893284652
NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr)
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.664+2T>G rs1564950387
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe) rs2133402700
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) rs1057524157
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu) rs2133402368
NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro)
NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser) rs1860524875
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu) rs1590008294
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) rs1554943158
NM_021008.4(DEAF1):c.926del (p.Leu309fs) rs1417226023
NM_021072.4(HCN1):c.1096C>A (p.Pro366Thr)
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)
NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro) rs2112040690
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.2128_2129dup (p.Ser710fs) rs2111839421
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)
NM_021072.4(HCN1):c.628C>T (p.Pro210Ser) rs2112032137
NM_021072.4(HCN1):c.794T>A (p.Leu265His)
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021072.4(HCN1):c.881C>T (p.Ala294Val)
NM_021072.4(HCN1):c.908G>T (p.Gly303Val)
NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)
NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter) rs2147842078
NM_021120.4(DLG3):c.159del (p.Tyr54fs) rs1602857000
NM_021120.4(DLG3):c.1819+1del
NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser) rs1758880343
NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys) rs1761282515
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) rs1555350397
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter) rs1265340906
NM_021975.4(RELA):c.329T>C (p.Ile110Thr) rs863223356
NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu) rs2137997888
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+1G>C
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1846-2A>G rs2100783138
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs) rs2076942520
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.3083+2T>C rs771581490
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.558-1G>T rs2077392348
NM_022101.4(STEEP1):c.163del (p.Arg55fs) rs2147360775
NM_022101.4(STEEP1):c.79del (p.Leu27fs)
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs) rs1862873659
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) rs779974496
NM_022124.6(CDH23):c.1859-1G>T rs1274105133
NM_022124.6(CDH23):c.1859-2A>G
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
NM_022124.6(CDH23):c.1987-1G>T
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
NM_022124.6(CDH23):c.2289+1G>C
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter) rs1589344004
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
NM_022124.6(CDH23):c.2397+1G>A
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
NM_022124.6(CDH23):c.2587+1G>C
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
NM_022124.6(CDH23):c.288+2T>C
NM_022124.6(CDH23):c.2922del (p.Lys975fs) rs1338446830
NM_022124.6(CDH23):c.2953+1G>A
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4101_4104+3del
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4207-2A>G
NM_022124.6(CDH23):c.4210-1G>A rs1166948274
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
NM_022124.6(CDH23):c.489del (p.Gly165fs)
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) rs2132927249
NM_022124.6(CDH23):c.5188-1G>A
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
NM_022124.6(CDH23):c.5502+2T>G
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
NM_022124.6(CDH23):c.562dup (p.Thr188fs) rs1857435780
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5820+2T>C
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.624+1G>A
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) rs1589424694
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
NM_022124.6(CDH23):c.67+1G>A
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
NM_022124.6(CDH23):c.7054+1G>A rs1057524265
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
NM_022124.6(CDH23):c.7483-1G>A
NM_022124.6(CDH23):c.753+1G>A rs1857755312
NM_022124.6(CDH23):c.754-2A>G rs2132400338
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr) rs373294595
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs) rs1221464948
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter) rs1841758961
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.8309-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter) rs767343063
NM_022124.6(CDH23):c.8722+1G>A
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9738+1G>T
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.645+2T>C
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn) rs1558650788
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738
NM_022552.5(DNMT3A):c.705del (p.Glu235fs) rs1675087282
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301
NM_022765.4(MICAL1):c.2348C>G (p.Ser783Ter)
NM_022765.4(MICAL1):c.763G>T (p.Val255Leu)
NM_022786.3(ARV1):c.573_574del (p.Leu192fs)
NM_022786.3(ARV1):c.594_595del (p.Ile198fs)
NM_022893.4(BCL11A):c.152G>C (p.Cys51Ser) rs1558519731
NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)
NM_022893.4(BCL11A):c.55+1G>T rs1670493597
NM_022893.4(BCL11A):c.977C>A (p.Thr326Lys) rs1676326365
NM_023077.3(COA7):c.97del (p.Asp33fs)
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val) rs1057519899
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp) rs1057519898
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897
NM_024072.4(DDX54):c.647A>G (p.Asn216Ser) rs764707570
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs) rs2076013475
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter) rs2076508722
NM_024298.5(MBOAT7):c.251del (p.Leu84fs) rs2076453977
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys) rs868498080
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs) rs2146989146
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter) rs1292724234
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_024548.4(CEP97):c.1148A>G (p.His383Arg) rs1060499739
NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro) rs2076207767
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg) rs1576994101
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs) rs1715100386
NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg) rs1576994053
NM_024665.7(TBL1XR1):c.1048-1G>A rs1576993734
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) rs1576993654
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.7(TBL1XR1):c.1182_1183dup (p.Tyr395fs) rs2108414363
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) rs1576982808
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter) rs755371824
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser) rs2108407721
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn) rs1560098548
NM_024665.7(TBL1XR1):c.1453G>A (p.Gly485Arg) rs2108378323
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu) rs1713131684
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs) rs2108503904
NM_024665.7(TBL1XR1):c.187G>A (p.Glu63Lys) rs2108503870
NM_024665.7(TBL1XR1):c.204+2del rs2108503840
NM_024665.7(TBL1XR1):c.205-7A>G rs1717116134
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu) rs1716920045
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
NM_024665.7(TBL1XR1):c.59-1G>A rs2108504144
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn) rs2108490656
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_024665.7(TBL1XR1):c.703-2A>G rs1577018466
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp) rs1716484744
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp) rs2108480284
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
NM_024665.7(TBL1XR1):c.864+1G>A
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg) rs1716297832
NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala) rs2108437312
NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup) rs1715105181
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024665.7(TBL1XR1):c.977G>T (p.Ser326Ile) rs1135401760
NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr) rs61748106
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025145.7(CFAP43):c.3937C>T (p.Arg1313Ter)
NM_025185.3(TANC2):c.1589_1590delGA rs2046598826
NM_025243.4(SLC19A3):c.1172+2T>G rs2106325851
NM_025243.4(SLC19A3):c.1173-1G>A
NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)
NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
NM_025243.4(SLC19A3):c.150+2T>C rs780157041
NM_025243.4(SLC19A3):c.151-1G>C
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) rs1695586409
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu) rs1574560025
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) rs1271884981
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)
NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro) rs1695547539
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs) rs2067697776
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) rs2143001434
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
NM_030665.4(RAI1):c.3594G>T (p.Arg1198Ser) rs2032257286
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) rs2143003540
NM_030665.4(RAI1):c.5709+5G>C rs2143006568
NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His) rs773649192
NM_030930.4(UNC93B1):c.1345_1363+52del
NM_030930.4(UNC93B1):c.781+1G>A
NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met)
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly) rs483353032
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly) rs483353033
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys) rs483353034
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu) rs483353035
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu) rs483353036
NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter) rs483353037
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp) rs483353039
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser) rs483353038
NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu) rs483353022
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser) rs483353029
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu) rs483353024
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn) rs483353030
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser) rs3207617
NM_031206.7(LAS1L):c.1237G>A (p.Gly413Arg) rs1602612611
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe) rs1556913268
NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys) rs1556913258
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro) rs2146878120
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser) rs121918527
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe)
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp) rs1556910184
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2007T>G (p.His669Gln) rs1557006873
NM_031407.7(HUWE1):c.2320-19A>G
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) rs1057518704
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe) rs1557036757
NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val) rs1556978515
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val) rs863224879
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del) rs2067904283
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met) rs1556955128
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser) rs782393002
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser) rs2147247961
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) rs1114167296
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val) rs752450983
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
NM_031466.8(TRAPPC9):c.-68C>T
NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)
NM_031844.3(HNRNPU):c.1117+1G>C rs1558188078
NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp) rs2102987181
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.143_691+113del
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del) rs1680716624
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del)
NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter)
NM_031844.3(HNRNPU):c.1743+1G>A rs2102985855
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)
NM_031844.3(HNRNPU):c.2072del (p.Asn691fs)
NM_031844.3(HNRNPU):c.2168-1del rs2102985115
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_031844.3(HNRNPU):c.2425-2A>T rs1553281924
NM_031844.3(HNRNPU):c.2425-3C>A
NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs)
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) rs1553283916
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) rs1573337948
NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter)
NM_031844.3(HNRNPU):c.520del (p.Gln174fs) rs2102990594
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs) rs1553283831
NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs)
NM_031844.3(HNRNPU):c.669_691+32del
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701
NM_031844.3(HNRNPU):c.803+2T>C rs112081356
NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs) rs2102989374
NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe)
NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs)
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val) rs778171763
NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs) rs2145347825
NM_032108.4(SEMA6B):c.1739-2A>G
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter) rs2145342438
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met) rs2145342338
NM_032108.4(SEMA6B):c.481C>G (p.Leu161Val) rs1490417837
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser) rs188772875
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs) rs1722830922
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) rs727502796
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg) rs1591268116
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg) rs764279982
NM_032316.3(NICN1):c.*2359_*2468del rs2049123051
NM_032409.3(PINK1):c.1252-2_1272del
NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs)
NM_032409.3(PINK1):c.377A>C (p.Gln126Pro)
NM_032409.3(PINK1):c.385C>T (p.Gln129Ter)
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032409.3(PINK1):c.776+1G>A
NM_032436.4(CHAMP1):c.1440G>A (p.Trp480Ter)
NM_032436.4(CHAMP1):c.1903_1906del (p.Glu635fs)
NM_032436.4(CHAMP1):c.2004_2005del (p.Asn669fs)
NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)
NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)
NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs)
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs) rs1594129609
NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer) rs2139419505
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile) rs1057519593
NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln) rs759748655
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg) rs2073064247
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys) rs2124181878
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter) rs2073068605
NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser) rs2124152159
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter) rs1599560256
NM_032630.3(CINP):c.637T>G (p.Ter213Gly) rs1060499740
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs) rs1644248738
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) rs768820873
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) rs863223396
NM_032856.5(WDR73):c.41+1G>C
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) rs2141837067
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) rs866551482
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_033028.5(BBS4):c.221-1047_405+2899del
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_033402.5(LRRCC1):c.105-1G>C rs886039794
NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter) rs1599959574
NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter) rs2067217104
NM_033453.4(ITPA):c.137del (p.Gln46fs)
NM_033453.4(ITPA):c.271T>C (p.Phe91Leu) rs1600509558
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_052874.5(STX1B):c.106-1G>C rs2056626672
NM_052874.5(STX1B):c.205+1G>A rs2143677612
NM_052874.5(STX1B):c.205+2_205+3del rs2056625682
NM_052874.5(STX1B):c.281-2A>C rs2143671063
NM_052874.5(STX1B):c.281-41_294del rs2056602388
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) rs781210585
NM_052874.5(STX1B):c.30+1G>A
NM_052874.5(STX1B):c.315_321dup (p.Ser108fs)
NM_052874.5(STX1B):c.344G>C (p.Arg115Pro) rs868539367
NM_052874.5(STX1B):c.345dup (p.Lys116fs)
NM_052874.5(STX1B):c.354+1G>A rs1596717264
NM_052874.5(STX1B):c.354+2T>C rs2143670818
NM_052874.5(STX1B):c.355-1G>A
NM_052874.5(STX1B):c.355-1_355delinsAA
NM_052874.5(STX1B):c.355-2A>G rs2143669495
NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)
NM_052874.5(STX1B):c.676-2A>G rs2056573081
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn) rs1596714579
NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter) rs2143661528
NM_052874.5(STX1B):c.823G>A (p.Gly275Arg) rs1596714308
NM_052874.5(STX1B):c.852dup (p.Thr285fs) rs762705451
NM_052876.4(NACC1):c.1384G>A (p.Asp462Asn) rs2145626399
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_052988.5(CDK10):c.299_300dup (p.Leu101fs) rs2151576627
NM_052988.5(CDK10):c.550_556del (p.Leu184fs) rs1597864006
NM_052988.5(CDK10):c.729del (p.Glu244fs) rs2060622260
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
NM_057175.5(NAA15):c.1118T>A (p.Leu373Ter) rs2110948948
NM_057175.5(NAA15):c.1257+1G>A rs1747996495
NM_057175.5(NAA15):c.134A>G (p.His45Arg) rs2110895965
NM_057175.5(NAA15):c.139_139+1dup
NM_057175.5(NAA15):c.1549G>C (p.Glu517Gln)
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter) rs1179904078
NM_057175.5(NAA15):c.1772del (p.Glu591fs) rs2110977229
NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
NM_057175.5(NAA15):c.231dup (p.Lys78fs) rs757423402
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_057175.5(NAA15):c.327G>A (p.Trp109Ter) rs2110911054
NM_057175.5(NAA15):c.395dup (p.Tyr133fs)
NM_057175.5(NAA15):c.403-1G>A rs2110915238
NM_057175.5(NAA15):c.55-2A>C
NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
NM_057175.5(NAA15):c.691+1G>A rs1579109565
NM_057175.5(NAA15):c.779del (p.Tyr260fs) rs2110930242
NM_057175.5(NAA15):c.839_840del (p.Ile279_Tyr280insTer)
NM_057175.5(NAA15):c.962del (p.Gly321fs)
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter) rs1555906768
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs) rs1555906781
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter) rs1555907620
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs) rs1555907623
NM_078629.4(MSL3):c.1381+1G>T rs1555907626
NM_078629.4(MSL3):c.1436dup (p.Leu480fs) rs1555907653
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs) rs1555907864
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro) rs1555906707
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) rs2084286884
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) rs2084286998
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_080552.3(SLC32A1):c.806T>C (p.Leu269Pro) rs2145650002
NM_080552.3(SLC32A1):c.965T>G (p.Phe322Cys) rs2145650130
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) rs2084284179
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter) rs2056119926
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)
NM_080632.3(UPF3B):c.240del (p.Phe80fs)
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter) rs376175156
NM_130811.4(SNAP25):c.114+2T>G rs2123019421
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu) rs2123063802
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg) rs2123063830
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser) rs2123063984
NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg) rs2123120184
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro) rs2064035939
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr) rs2123120544
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr) rs2123159234
NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly) rs2123159261
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter) rs2123159470
NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro) rs2123159524
NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr) rs2123205099
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly) rs2123205311
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val) rs2123205311
NM_130811.4(SNAP25):c.72+1G>A rs2123003858
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp) rs2074492359
NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs) rs1057518777
NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala) rs587784000
NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly) rs1752883292
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) rs730882205
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138459.5(NUS1):c.220_244del (p.Gly74fs)
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter) rs2114674308
NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
NM_138459.5(NUS1):c.692-2A>G rs2114693876
NM_138576.4(BCL11B):c.1206del (p.Phe403fs)
NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)
NM_138576.4(BCL11B):c.1582del (p.His528fs) rs2139757991
NM_138576.4(BCL11B):c.1742del (p.Gly581fs) rs1886447945
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs) rs2139753087
NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs) rs2139753037
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) rs2139752892
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)
NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln) rs1886516216
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu) rs781821239
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) rs375189195
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln) rs2147322042
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser) rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) rs1556049714
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) rs1569394026
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1552del (p.Ala518fs)
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) rs1601945599
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) rs2048669411
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr) rs2147318633
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)
NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly) rs2136944093
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser) rs1881066861
NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys)
NM_139318.5(KCNH5):c.1382C>A (p.Ala461Glu)
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys) rs1164997707
NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)
NM_144687.4(NLRP12):c.858C>G (p.Pro286=) rs145171629
NM_144969.3(ZDHHC15):c.473A>G (p.His158Arg) rs1042821596
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter) rs546662496
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)
NM_145239.3(PRRT2):c.250del (p.Ala84fs) rs2142423353
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) rs1900077598
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter) rs1555502665
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) rs1599719534
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala) rs2145972442
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
NM_152296.5(ATP1A3):c.1302+1G>A rs1599719130
NM_152296.5(ATP1A3):c.1438-2A>G rs2075199553
NM_152296.5(ATP1A3):c.1630+2T>C rs2145965854
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His) rs1599715341
NM_152296.5(ATP1A3):c.1807-2A>G
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) rs397515577
NM_152296.5(ATP1A3):c.2094+2_2094+3del
NM_152296.5(ATP1A3):c.2095-1G>A rs2145959709
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro) rs2075159021
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) rs1599712523
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) rs1599712456
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys) rs1599706613
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) rs1599706511
NM_152296.5(ATP1A3):c.235del (p.Trp79fs) rs2145983235
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg) rs2075090666
NM_152296.5(ATP1A3):c.2415C>A (p.Asp805Glu) rs606231439
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs) rs2145945887
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg) rs2145945797
NM_152296.5(ATP1A3):c.2689-1G>T rs2145944794
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.2921+1G>C rs2075058462
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
NM_152296.5(ATP1A3):c.380C>T (p.Ala127Val) rs2075284959
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.724+1G>T rs2075276177
NM_152296.5(ATP1A3):c.943A>T (p.Ile315Phe)
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
NM_152296.5(ATP1A3):c.994-1G>A
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp) rs1822581744
NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs) rs751000250
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs) rs1364947213
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+2T>A
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
NM_152564.5(VPS13B):c.3445+2T>A
NM_152564.5(VPS13B):c.3446-1G>A
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+2T>C
NM_152564.5(VPS13B):c.4157+2T>G
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2A>G
NM_152564.5(VPS13B):c.5076+1G>C
NM_152564.5(VPS13B):c.5076+1G>T
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.762+1G>A
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.763-1G>T
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-1G>A
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G
NM_152564.5(VPS13B):c.9184-1G>A
NM_152564.5(VPS13B):c.9184-2A>G
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>A
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-5_9744del
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_152617.4(RNF168):c.559-1_560del
NM_152617.4(RNF168):c.659_662del (p.Arg220fs) rs755314562
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.109dup (p.Ile37fs) rs2137959601
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs) rs2138132620
NM_152641.4(ARID2):c.1716-2A>G rs113548014
NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)
NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser) rs2138166428
NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter) rs2138168418
NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)
NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs) rs1592121202
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs) rs2138231889
NM_152641.4(ARID2):c.542_552del (p.Thr181fs)
NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)
NM_152641.4(ARID2):c.820C>T (p.Arg274Ter) rs1943228378
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2722A>G (p.Ile908Val) rs1792226793
NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala) rs1792213890
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152703.5(SAMD9L):c.[1076G>A;3353A>G]
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys) rs1565339091
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser) rs1555055028
NM_152743.4(BRAT1):c.1016-1G>C
NM_152743.4(BRAT1):c.1135-1G>T
NM_152743.4(BRAT1):c.1322-2A>G rs2128390167
NM_152743.4(BRAT1):c.1371_1395+16del rs1224820591
NM_152743.4(BRAT1):c.1395+2T>A rs1779105755
NM_152743.4(BRAT1):c.1499-1G>T rs1778987915
NM_152743.4(BRAT1):c.1598-1G>A
NM_152743.4(BRAT1):c.1710del (p.Gln571fs) rs756489141
NM_152743.4(BRAT1):c.196C>T (p.Gln66Ter)
NM_152743.4(BRAT1):c.283-1G>A
NM_152743.4(BRAT1):c.283-2A>G
NM_152743.4(BRAT1):c.394_423dup (p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla)
NM_152743.4(BRAT1):c.804-1G>T
NM_152743.4(BRAT1):c.924-1G>A
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
NM_153033.5(KCTD7):c.314+1G>A rs1554397834
NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro) rs765235486
NM_153033.5(KCTD7):c.493+2_493+6del rs2116774137
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
NM_153033.5(KCTD7):c.604del (p.Tyr202fs)
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr) rs2116775490
NM_153033.5(KCTD7):c.731del (p.Leu244fs) rs2116775575
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs) rs2108007892
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.52del (p.Asp18fs) rs2108008280
NM_153252.5(BRWD3):c.144G>A (p.Trp48Ter)
NM_153252.5(BRWD3):c.1522-1G>C rs2147755986
NM_153252.5(BRWD3):c.2095C>T (p.Arg699Ter)
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) rs1569290395
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter) rs750080794
NM_153252.5(BRWD3):c.3899dup (p.Cys1300fs)
NM_153252.5(BRWD3):c.4006-1G>A
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
NM_153252.5(BRWD3):c.94dup (p.Leu32fs)
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln) rs886039810
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.2746-2A>G
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
NM_153816.6(SNX14):c.462-589A>G
NM_153816.6(SNX14):c.867+1G>T rs1786449736
NM_171825.2(CAMK2A):c.65del rs1554123982
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.1023+2T>C
NM_172107.4(KCNQ2):c.1024-2A>C rs1057516104
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu) rs2080907267
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro) rs2145680256
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg) rs2145680143
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val) rs2080905274
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys) rs1600732174
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter) rs756360226
NM_172107.4(KCNQ2):c.1148+2T>A
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs) rs2145637592
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter) rs2145637412
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1301+2T>G
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
NM_172107.4(KCNQ2):c.1302-1G>A
NM_172107.4(KCNQ2):c.1302-1G>T
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val) rs2145547478
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser) rs2080210194
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.1623_1631+5del rs2145547209
NM_172107.4(KCNQ2):c.1632-6C>A
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly) rs796052650
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro) rs118192234
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile) rs2145542277
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro) rs1057517919
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp) rs796052654
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu) rs1057516123
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn) rs2145541173
NM_172107.4(KCNQ2):c.1763+4A>G rs2145541064
NM_172107.4(KCNQ2):c.1764-1G>A
NM_172107.4(KCNQ2):c.1887+2del
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro) rs2145921196
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
NM_172107.4(KCNQ2):c.296+2T>C
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del) rs1064795435
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His) rs2081442073
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly) rs2145789722
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.367del (p.Glu123fs) rs2145789218
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe) rs796052617
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val) rs1381622639
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.387+2T>C rs2145789008
NM_172107.4(KCNQ2):c.388-1G>A rs6089914
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn) rs2145779680
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala) rs2145779552
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) rs2145922320
NM_172107.4(KCNQ2):c.514+1G>A rs2145778708
NM_172107.4(KCNQ2):c.514+2T>C
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val) rs2145776110
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met) rs1085307920
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys) rs2081363302
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile) rs2081362775
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys) rs1568940442
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe) rs1568940442
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp) rs2145775614
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro) rs796052621
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg) rs1339542565
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val) rs1057524599
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu) rs2145774625
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val) rs2145774563
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met) rs2081358317
NM_172107.4(KCNQ2):c.690+1G>A rs2145774426
NM_172107.4(KCNQ2):c.690+2_690+19del
NM_172107.4(KCNQ2):c.691-1G>A rs2145736858
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg) rs942541730
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr) rs2081191454
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro) rs2081190512
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp) rs2081189736
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys) rs796052631
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr) rs2145735332
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser) rs796052633
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys) rs2081187047
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp) rs118192209
NM_172107.4(KCNQ2):c.816+2T>A rs2081186625
NM_172107.4(KCNQ2):c.816+2T>G
NM_172107.4(KCNQ2):c.817-1G>A rs2145719805
NM_172107.4(KCNQ2):c.817-2A>G
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn) rs1600755607
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe) rs780872303
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met) rs1272165811
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn) rs796052636
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu) rs1600755429
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser) rs2081099858
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) rs1057516100
NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys) rs1057516100
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu) rs864321707
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe) rs2145712758
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) rs796052639
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile) rs2145712541
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr) rs2145712459
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)
NM_173354.5(SIK1):c.1153C>T (p.Arg385Ter) rs1256783641
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
NM_173495.3(PTCHD1):c.1985_1986del (p.Leu661_Tyr662insTer) rs1922892999
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg) rs1922524280
NM_173495.3(PTCHD1):c.95C>G (p.Pro32Arg) rs1569130365
NM_173500.4(TTBK2):c.1675del (p.Gln559fs) rs2140757755
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr) rs778218227
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter) rs2140986045
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter) rs770444240
NM_173569.4(UBN2):c.2024+1G>A rs1585016242
NM_173607.5(FAM177A1):c.366dup (p.Trp123fs) rs730882244
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del) rs1555546796
NM_177433.3(MAGED2):c.1003del (p.Gln335fs) rs1114167295
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) rs2150964787
NM_177550.5(SLC13A5):c.1438-2A>G
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.232-2A>G rs1973878360
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.425del (p.Thr142fs) rs2151495220
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) rs1973699059
NM_177550.5(SLC13A5):c.839+1G>A rs1973697345
NM_177550.5(SLC13A5):c.840-2A>G
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu) rs1581525728
NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu) rs2113818913
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His) rs1135401758
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg) rs2113819240
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe) rs201922441
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile) rs1757276859
NM_178012.5(TUBB2B):c.632G>A (p.Cys211Tyr)
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.908G>A (p.Cys303Tyr) rs2113819019
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502
NM_178014.4(TUBB):c.139A>G (p.Ile47Val) rs1776361528
NM_178014.4(TUBB):c.155A>G (p.Asn52Ser)
NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)
NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp) rs2127749078
NM_178014.4(TUBB):c.331G>A (p.Glu111Lys)
NM_178014.4(TUBB):c.448C>T (p.Leu150Phe) rs1581668624
NM_178014.4(TUBB):c.670G>T (p.Asp224Tyr)
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter) rs2131034777
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg) rs2131032901
NM_178138.6(LHX3):c.607-3_630del rs969810391
NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del) rs863223347
NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp) rs878853147
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter) rs1695336858
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg) rs1057519757
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841
NM_181672.3(OGT):c.1529G>A (p.Ser510Asn)
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile) rs1602155923
NM_181672.3(OGT):c.307G>A (p.Gly103Arg) rs1556046834
NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)
NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter) rs2063551300
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter) rs1562928193
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs) rs2096651533
NM_182961.4(SYNE1):c.12079-2A>T rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C rs2154000325
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs) rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs) rs1064794555
NM_182961.4(SYNE1):c.15837_15917+69del rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G rs2153903647
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
NM_182961.4(SYNE1):c.18208-1G>A rs2153725036
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs) rs2083582255
NM_182961.4(SYNE1):c.22590-1G>A rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23790+1G>A rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.2568+1G>A rs2154261629
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter) rs2098603169
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.4310+1G>A
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
NM_182961.4(SYNE1):c.67+2T>A rs762743107
NM_182961.4(SYNE1):c.888+2T>A rs754518742
NM_182961.4(SYNE1):c.888+2T>C
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198428.3(BBS9):c.2153del (p.Gly718fs) rs1369313123
NM_198503.5(KCNT2):c.1096A>G (p.Lys366Glu) rs2148529666
NM_198503.5(KCNT2):c.1667C>T (p.Thr556Ile)
NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs) rs2148151806
NM_198503.5(KCNT2):c.2501_2507del (p.Ser834fs) rs2147978696
NM_198503.5(KCNT2):c.3055C>T (p.Arg1019Ter)
NM_198503.5(KCNT2):c.433del (p.Ile145fs)
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser) rs2148537524
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser) rs33939927
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs) rs1783731105
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg) rs967125703
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu) rs200559475
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) rs1403101337
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) rs1194084403
NM_198880.3(QRICH1):c.1180C>G (p.His394Asp) rs2106903855
NM_198880.3(QRICH1):c.1234del (p.Thr412fs)
NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg) rs2106863254
NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys) rs2106862882
NM_198880.3(QRICH1):c.1655del (p.Phe552fs) rs2106862871
NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp) rs2106855069
NM_198880.3(QRICH1):c.1786+1G>A rs2106854800
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu) rs2093252866
NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu) rs2106813640
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)
NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu) rs2106983539
NM_198880.3(QRICH1):c.756G>T (p.Met252Ile) rs2106905658
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) rs2093408453
NM_198880.3(QRICH1):c.914dup (p.Gly306fs) rs2106905056
NM_198880.3(QRICH1):c.961del (p.Asp321fs) rs2106904870
NM_198903.2:c.-61_889+60del
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.107+1G>A rs1758364128
NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu) rs1760808499
NM_198904.4(GABRG2):c.259+1G>C rs2113298764
NM_198904.4(GABRG2):c.259+2T>A rs2113298770
NM_198904.4(GABRG2):c.259+2T>C rs2113298770
NM_198904.4(GABRG2):c.259+5G>T rs2113298784
NM_198904.4(GABRG2):c.260-1G>A rs2113309064
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.328-1G>A
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup) rs2113326854
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
NM_198904.4(GABRG2):c.549-1G>T
NM_198904.4(GABRG2):c.631+1G>T
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.631+4A>G
NM_198904.4(GABRG2):c.632-2A>T rs2113370272
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226
NM_198904.4(GABRG2):c.737_740del (p.Arg246fs)
NM_198904.4(GABRG2):c.769+1G>A rs2113371247
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val) rs1554100507
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile) rs1764624249
NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp) rs543339576
NM_198904.4(GABRG2):c.916_922+8del rs2113599162
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn) rs1765173859
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr) rs1765175867
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly) rs796052510
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_198993.5(STAC2):c.257G>A (p.Arg86Lys) rs863223351
NM_198994.2(TGM6):c.425_435del11 rs1222726216
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys) rs879255361
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) rs1569075471
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs) rs2040866242
NM_203446.3(SYNJ1):c.2398C>T (p.Arg800Cys)
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.3247+2T>G
NM_203446.3(SYNJ1):c.3430+1G>A rs2145769010
NM_203446.3(SYNJ1):c.3478+1G>A rs1085307987
NM_203446.3(SYNJ1):c.3589-1G>A
NM_203446.3(SYNJ1):c.789+1G>A rs2042124608
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) rs2061711638
NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter) rs2147139830
NM_203475.3(PORCN):c.1284+1G>A
NM_203475.3(PORCN):c.1356del (p.Cys453fs) rs1602085557
NM_203475.3(PORCN):c.329+1G>A rs1602070594
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) rs1057519006
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) rs2147130188
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs) rs1698428309
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) rs2148557361
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys) rs2148557375
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys) rs1572531730
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro) rs1553270599
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys) rs1698434969
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) rs1572531765
NM_205768.3(ZBTB18):c.1309C>T (p.His437Tyr)
NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr) rs1572531830
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr) rs1698437148
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro) rs1558149913
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu) rs1558149913
NM_205768.3(ZBTB18):c.1403T>C (p.Val468Ala) rs2148557671
NM_205768.3(ZBTB18):c.1411C>T (p.Arg471Cys)
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770
NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr) rs1572532005
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter) rs376898131
NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg)
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro) rs1553270640
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg) rs869312689
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)
NM_205768.3(ZBTB18):c.306del (p.Ile103fs)
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)
NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs)
NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter) rs763141634
NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys) rs863223346
NM_207370.4(GPR153):c.217C>T (p.Arg73Cys) rs776061422
Single allele
inv(X)(p22.2q28)
m.3697G>A rs199476122
m.8344A>G rs118192098
t(X;7)(p10;q21.11)

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