ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Natera, Inc. and "likely benign" from any submitter

Minimum review status of the submission from Natera, Inc.: Collection method of the submission from Natera, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2581
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_002529.4(NTRK1):c.157G>C (p.Asp53His) rs200815412 0.00187
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845 0.00185
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser) rs145056278 0.00167
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685 0.00155
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000153.4(GALC):c.1489+3G>A rs186664912 0.00124
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602 0.00116
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser) rs553840761 0.00101
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00098
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln) rs77477448 0.00093
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00078
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846 0.00075
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708 0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_138694.4(PKHD1):c.5752-9G>A rs184441390 0.00074
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228 0.00072
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 0.00070
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00070
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn) rs141168886 0.00065
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu) rs143221297 0.00061
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_002529.4(NTRK1):c.602C>A (p.Pro201His) rs146201511 0.00061
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn) rs140279971 0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) rs150307400 0.00054
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000070.3(CAPN3):c.2380+19C>T rs141234995 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_000203.5(IDUA):c.493+7G>A rs200509712 0.00052
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239 0.00051
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=) rs373606872 0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys) rs147443162 0.00050
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg) rs112030234 0.00049
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448 0.00048
NM_001164508.2(NEB):c.19315-10T>C rs201473873 0.00048
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00047
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00046
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 0.00044
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00043
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn) rs141481633 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) rs199875471 0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213 0.00040
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788 0.00040
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763 0.00039
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met) rs140345677 0.00039
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile) rs181884470 0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699 0.00038
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036 0.00036
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_001876.4(CPT1A):c.930G>C (p.Arg310=) rs147373480 0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_014844.5(TECPR2):c.516A>G (p.Pro172=) rs142385149 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00036
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432 0.00034
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971 0.00034
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000199.5(SGSH):c.89-4G>A rs375536965 0.00032
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His) rs146934952 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000642.3(AGL):c.1333A>G (p.Met445Val) rs140375476 0.00031
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 0.00031
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=) rs149017456 0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser) rs371714495 0.00031
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463 0.00030
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile) rs142568125 0.00030
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346 0.00030
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser) rs141276889 0.00030
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val) rs139180192 0.00030
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00030
NM_000022.4(ADA):c.975+8G>A rs192148185 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00029
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842 0.00029
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_000049.4(ASPA):c.832G>A (p.Val278Met) rs140581464 0.00028
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115 0.00027
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=) rs372540293 0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr) rs150012540 0.00027
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296 0.00026
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=) rs201662945 0.00026
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) rs371126595 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg) rs148868421 0.00026
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941 0.00026
NM_001876.4(CPT1A):c.693+7C>T rs370181471 0.00026
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 0.00026
NM_014297.5(ETHE1):c.150G>C (p.Leu50=) rs142193567 0.00026
NM_014844.5(TECPR2):c.978C>T (p.Ser326=) rs142082203 0.00026
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met) rs376090628 0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187 0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=) rs374582872 0.00025
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys) rs199819125 0.00024
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile) rs142600166 0.00024
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser) rs144941693 0.00024
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile) rs150095448 0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00024
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr) rs143295106 0.00024
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu) rs369714206 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) rs148817026 0.00024
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) rs200132482 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln) rs140781915 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000098.3(CPT2):c.912G>T (p.Gln304His) rs141553491 0.00022
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231 0.00022
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000094.4(COL7A1):c.1241-4G>A rs201605314 0.00021
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465 0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=) rs774188028 0.00021
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp) rs749162833 0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=) rs370788337 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln) rs371665285 0.00021
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln) rs150873722 0.00020
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser) rs138125299 0.00020
NM_000128.4(F11):c.1028+9T>C rs376630194 0.00020
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr) rs747538432 0.00020
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00020
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00020
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser) rs111306070 0.00020
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000048.4(ASL):c.655+8G>A rs200203985 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000128.4(F11):c.1767G>T (p.Leu589=) rs142054643 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602 0.00019
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=) rs565996783 0.00019
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=) rs371343548 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027 0.00019
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) rs375172942 0.00019
NM_004937.3(CTNS):c.123C>T (p.Asn41=) rs148084080 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met) rs201877942 0.00018
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His) rs143251480 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_002529.4(NTRK1):c.504C>T (p.Gly168=) rs144594313 0.00018
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029 0.00017
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00017
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_002529.4(NTRK1):c.631G>A (p.Val211Met) rs201192875 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr) rs143352280 0.00016
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu) rs200138839 0.00016
NM_000128.4(F11):c.1431C>T (p.Ser477=) rs149568223 0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr) rs749513146 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000352.6(ABCC8):c.3399+12C>T rs372561049 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776 0.00016
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746 0.00016
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689 0.00016
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=) rs899618893 0.00016
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys) rs765806782 0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser) rs368959723 0.00016
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr) rs140700961 0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00016
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000094.4(COL7A1):c.3724-6C>T rs370390884 0.00015
NM_000128.4(F11):c.596-6G>A rs369721182 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00015
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184 0.00014
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664 0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu) rs144788938 0.00014
NM_000098.3(CPT2):c.1914A>G (p.Gln638=) rs903915351 0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser) rs554813467 0.00014
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770 0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=) rs144879072 0.00014
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys) rs145962029 0.00014
NM_001369.3(DNAH5):c.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946 0.00014
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr) rs139740322 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met) rs552776147 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00014
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=) rs750369546 0.00014
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=) rs192599733 0.00014
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val) rs145745489 0.00014
NM_152564.5(VPS13B):c.4746-7T>C rs201136777 0.00014
NM_205861.3(DHDDS):c.990T>C (p.Thr330=) rs773902080 0.00014
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=) rs368419322 0.00013
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=) rs564151798 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val) rs200101760 0.00013
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile) rs199667661 0.00013
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly) rs199910966 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn) rs192769565 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=) rs144260889 0.00012
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885 0.00012
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) rs200398959 0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=) rs377015178 0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 0.00012
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338 0.00012
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly) rs201556073 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564 0.00011
NM_000048.4(ASL):c.1047C>G (p.Val349=) rs187877947 0.00011
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193 0.00011
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu) rs199967174 0.00011
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg) rs200741847 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000289.6(PFKM):c.1063-5C>T rs758178966 0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln) rs139835427 0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp) rs199989676 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr) rs376277385 0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His) rs200195063 0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly) rs928041091 0.00011
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile) rs373406041 0.00011
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=) rs755149967 0.00011
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys) rs149609746 0.00011
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn) rs149834171 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_014844.5(TECPR2):c.3790-8G>A rs772801372 0.00011
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=) rs150885756 0.00011
NM_014844.5(TECPR2):c.846C>T (p.Cys282=) rs201691545 0.00011
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=) rs370903187 0.00011
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) rs200146904 0.00010
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=) rs146584228 0.00010
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro) rs768813228 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=) rs369183371 0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=) rs765208384 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=) rs755883171 0.00010
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00010
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr) rs142570731 0.00010
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys) rs139728564 0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=) rs375658702 0.00010
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg) rs201473584 0.00010
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr) rs201340295 0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=) rs148721434 0.00010
NM_014244.5(ADAMTS2):c.2085+8C>A rs199825726 0.00010
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=) rs148422923 0.00010
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=) rs757779692 0.00010
NM_018941.4(CLN8):c.725C>T (p.Thr242Met) rs138821993 0.00010
NM_138694.4(PKHD1):c.1694-10C>G rs745911880 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154 0.00009
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val) rs200605351 0.00009
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys) rs200802373 0.00009
NM_000128.4(F11):c.1059C>T (p.Asn353=) rs766026346 0.00009
NM_000128.4(F11):c.486-10T>A rs370991682 0.00009
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503 0.00009
NM_000199.5(SGSH):c.506+9C>T rs376523398 0.00009
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187 0.00009
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr) rs140216601 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_000274.4(OAT):c.1015-5C>T rs764963374 0.00009
NM_000277.3(PAH):c.60+9C>T rs369454152 0.00009
NM_000317.3(PTS):c.174A>G (p.Thr58=) rs745627441 0.00009
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=) rs144200345 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898 0.00009
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185 0.00009
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=) rs369429046 0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.17844+7C>T rs373259828 0.00009
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser) rs369602540 0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys) rs372117694 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=) rs373353657 0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00009
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239 0.00009
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys) rs201242847 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe) rs150459546 0.00009
NM_001876.4(CPT1A):c.2028+7C>G rs768465007 0.00009
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln) rs540751200 0.00009
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) rs377544087 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 0.00009
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=) rs201232288 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala) rs562503637 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034 0.00008
NM_000049.4(ASPA):c.237-6T>C rs370219865 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn) rs200868430 0.00008
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg) rs143037856 0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000152.5(GAA):c.2041-4G>T rs775757700 0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val) rs200478641 0.00008
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val) rs751849414 0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=) rs745673114 0.00008
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=) rs759637718 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=) rs140558263 0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137 0.00008
NM_001164508.2(NEB):c.9619-9C>T rs778009768 0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 0.00008
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=) rs199735129 0.00008
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr) rs147108941 0.00008
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His) rs150739124 0.00008
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr) rs536502106 0.00008
NM_001369.3(DNAH5):c.7888-4A>G rs775268409 0.00008
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe) rs201706790 0.00008
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala) rs138533001 0.00008
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) rs782595882 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00008
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128 0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000128.4(F11):c.1200G>A (p.Pro400=) rs150377265 0.00007
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00007
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000199.5(SGSH):c.720C>T (p.Tyr240=) rs367654527 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000246.4(CIITA):c.1683C>T (p.Asp561=) rs76686583 0.00007
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000383.4(AIRE):c.1095+10C>T rs372932833 0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=) rs369251345 0.00007
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001042432.2(CLN3):c.291G>A (p.Thr97=) rs367945307 0.00007
NM_001142800.2(EYS):c.8233+9G>A rs779154270 0.00007
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=) rs528974814 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His) rs373778424 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly) rs758546967 0.00007
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=) rs369094478 0.00007
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile) rs368448770 0.00007
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly) rs374248199 0.00007
NM_001369.3(DNAH5):c.477C>T (p.Gly159=) rs897766386 0.00007
NM_001876.4(CPT1A):c.525G>A (p.Pro175=) rs371805329 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_014297.5(ETHE1):c.375+7T>C rs752466453 0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195 0.00007
NM_138694.4(PKHD1):c.8440+10G>C rs376658460 0.00007
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631 0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=) rs534326487 0.00006
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=) rs144383704 0.00006
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln) rs188108732 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=) rs749814590 0.00006
NM_000094.4(COL7A1):c.447C>T (p.Asp149=) rs372585819 0.00006
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu) rs777472432 0.00006
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=) rs779298653 0.00006
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala) rs372838887 0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys) rs779525393 0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333 0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292 0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000137.4(FAH):c.302A>G (p.Glu101Gly) rs758347578 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342 0.00006
NM_000243.3(MEFV):c.1759+7C>T rs772667365 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000246.4(CIITA):c.2832G>A (p.Ser944=) rs766538754 0.00006
NM_000246.4(CIITA):c.2979G>A (p.Ala993=) rs142031278 0.00006
NM_000246.4(CIITA):c.772+5G>T rs376221650 0.00006
NM_000271.5(NPC1):c.2246-6C>T rs757950161 0.00006
NM_000277.3(PAH):c.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
NM_000352.6(ABCC8):c.3329+7G>A rs776313489 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser) rs782409603 0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=) rs745762132 0.00006
NM_000498.3(CYP11B2):c.596-4G>A rs370388708 0.00006
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_001142800.2(EYS):c.-209C>T rs1004023794 0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=) rs376870255 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=) rs769476760 0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=) rs377183242 0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326 0.00006
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn) rs201731351 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr) rs374941096 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 0.00006
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=) rs200083849 0.00006
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668 0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=) rs751747575 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=) rs990691780 0.00006
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe) rs374221053 0.00006
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His) rs150601733 0.00006
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met) rs201020293 0.00006
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841 0.00006
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala) rs753696648 0.00006
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His) rs73055857 0.00006
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe) rs767853104 0.00006
NM_001369.3(DNAH5):c.660+9G>A rs762915801 0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=) rs568499996 0.00006
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585 0.00006
NM_001369.3(DNAH5):c.7752+3A>G rs200385399 0.00006
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181 0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser) rs200935209 0.00006
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His) rs751281792 0.00006
NM_002529.4(NTRK1):c.470G>A (p.Arg157His) rs141021604 0.00006
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) rs200328537 0.00006
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) rs773937760 0.00006
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=) rs140913653 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=) rs567995024 0.00006
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=) rs200484869 0.00006
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp) rs560133266 0.00006
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=) rs199768081 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=) rs141473212 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_000049.4(ASPA):c.840C>T (p.Pro280=) rs148081446 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=) rs138330564 0.00005
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=) rs146903823 0.00005
NM_000094.4(COL7A1):c.4012-9C>T rs763087515 0.00005
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151 0.00005
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665 0.00005
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155 0.00005
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00005
NM_000271.5(NPC1):c.956-10G>A rs755660832 0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000397.4(CYBB):c.948G>T (p.Gly316=) rs139761069 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.2133T>G (p.Pro711=) rs782781621 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=) rs576803251 0.00005
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=) rs145340637 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His) rs373850451 0.00005
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089 0.00005
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=) rs370742146 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln) rs777069125 0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met) rs757505325 0.00005
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu) rs200454939 0.00005
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu) rs772083580 0.00005
NM_001164508.2(NEB):c.252C>T (p.Pro84=) rs201735545 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His) rs752349680 0.00005
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=) rs775336786 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) rs760010021 0.00005
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp) rs753960777 0.00005
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216 0.00005
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala) rs376453450 0.00005
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu) rs375686889 0.00005
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys) rs745321705 0.00005
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=) rs377432140 0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001876.4(CPT1A):c.434G>A (p.Arg145His) rs373015421 0.00005
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu) rs142870382 0.00005
NM_002529.4(NTRK1):c.357C>T (p.Arg119=) rs149960336 0.00005
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) rs142474717 0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) rs144826451 0.00005
NM_005609.4(PYGM):c.1239+9G>A rs374937711 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_007259.5(VPS45):c.577-5C>T rs1266646389 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=) rs149510554 0.00005
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=) rs543205273 0.00005
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) rs553432772 0.00005
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=) rs752316567 0.00005
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) rs377272298 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688 0.00004
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000046.5(ARSB):c.105G>A (p.Pro35=) rs1423589060 0.00004
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531 0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=) rs75766476 0.00004
NM_000048.4(ASL):c.1063-8G>A rs548397162 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=) rs762567255 0.00004
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421 0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448 0.00004
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904 0.00004
NM_000071.3(CBS):c.1281G>A (p.Pro427=) rs563330591 0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=) rs377732069 0.00004
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys) rs142108058 0.00004
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=) rs548139799 0.00004
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His) rs558424479 0.00004
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser) rs200290149 0.00004
NM_000094.4(COL7A1):c.5736+9G>A rs777097228 0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys) rs765130674 0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly) rs200252755 0.00004
NM_000128.4(F11):c.56-6T>C rs374122923 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2982-8C>G rs781331325 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=) rs368741815 0.00004
NM_000158.4(GBE1):c.1932G>A (p.Gly644=) rs544906178 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306 0.00004
NM_000199.5(SGSH):c.89-10C>T rs766929408 0.00004
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083 0.00004
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723 0.00004
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala) rs374270413 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000246.4(CIITA):c.2617T>C (p.Leu873=) rs368233530 0.00004
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 0.00004
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 0.00004
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669 0.00004
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=) rs765090096 0.00004
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=) rs768582290 0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His) rs369953763 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000642.3(AGL):c.1899+9C>G rs768285138 0.00004
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227 0.00004
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757 0.00004
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187 0.00004
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=) rs191086777 0.00004
NM_001142800.2(EYS):c.1470C>T (p.Gly490=) rs778161042 0.00004
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr) rs762993577 0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 0.00004
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=) rs141925015 0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=) rs771969348 0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00004
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro) rs767873861 0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu) rs376157878 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile) rs575499014 0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=) rs770713773 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=) rs558657964 0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu) rs746031384 0.00004
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile) rs377336846 0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His) rs796797375 0.00004
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln) rs369174368 0.00004
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=) rs576696191 0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His) rs368346105 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His) rs748121656 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu) rs747225286 0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala) rs764064217 0.00004
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=) rs371565168 0.00004
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala) rs748120166 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met) rs200012281 0.00004
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00004
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile) rs746662023 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131 0.00004
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln) rs781267941 0.00004
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His) rs185855852 0.00004
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser) rs750670743 0.00004
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=) rs748438142 0.00004
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu) rs749078502 0.00004
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val) rs752077073 0.00004
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala) rs200805455 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln) rs371695477 0.00004
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224 0.00004
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe) rs368476008 0.00004
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe) rs375063617 0.00004
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) rs138505566 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001875.5(CPS1):c.3757-10A>C rs201251176 0.00004
NM_001875.5(CPS1):c.785C>T (p.Ala262Val) rs372217508 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His) rs775718859 0.00004
NM_002529.4(NTRK1):c.288-5C>T rs200860423 0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln) rs200305545 0.00004
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=) rs758572818 0.00004
NM_004937.3(CTNS):c.852+8C>T rs780856527 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 0.00004
NM_006493.4(CLN5):c.486C>T (p.Gly162=) rs769007858 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 0.00004
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=) rs1402048390 0.00004
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=) rs142275705 0.00004
NM_014244.5(ADAMTS2):c.976-10C>A rs973000351 0.00004
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) rs778115838 0.00004
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=) rs775448295 0.00004
NM_014844.5(TECPR2):c.669A>C (p.Pro223=) rs750443286 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_033159.4(HYAL1):c.483T>C (p.Asp161=) rs368360137 0.00004
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 0.00004
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 0.00004
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) rs773474909 0.00004
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=) rs760377055 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_153006.3(NAGS):c.534G>A (p.Pro178=) rs539061299 0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr) rs186127828 0.00004
NM_172250.3(MMAA):c.440-4G>A rs780768376 0.00004
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833 0.00003
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00003
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=) rs551051945 0.00003
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570 0.00003
NM_000053.4(ATP7B):c.2447+8A>G rs747586752 0.00003
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=) rs370527611 0.00003
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=) rs759384108 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys) rs202192755 0.00003
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His) rs765663530 0.00003
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=) rs756201098 0.00003
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile) rs562548943 0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=) rs761393259 0.00003
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala) rs772457877 0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=) rs748854889 0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719 0.00003
NM_000128.4(F11):c.1683C>T (p.Ala561=) rs770473069 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) rs754336457 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000153.4(GALC):c.192C>T (p.Gly64=) rs753287800 0.00003
NM_000158.4(GBE1):c.143+8C>G rs750447886 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000246.4(CIITA):c.772+9G>A rs750572482 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000271.5(NPC1):c.2130+10C>G rs776389852 0.00003
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583 0.00003
NM_000310.4(PPT1):c.282A>G (p.Thr94=) rs753828114 0.00003
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=) rs751643248 0.00003
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=) rs372257088 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met) rs557522986 0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299 0.00003
NM_000383.4(AIRE):c.1400+7G>C rs781592443 0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=) rs746873146 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_000487.6(ARSA):c.1107+9G>A rs768146306 0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=) rs139997330 0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000498.3(CYP11B2):c.1122-4C>T rs1361290853 0.00003
NM_000498.3(CYP11B2):c.955-10G>T rs761292212 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702 0.00003
NM_000642.3(AGL):c.2950-5T>G rs760229683 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=) rs750729027 0.00003
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=) rs750023394 0.00003
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=) rs201991385 0.00003
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=) rs187669174 0.00003
NM_001003722.2(GLE1):c.1964+7G>A rs200856711 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00003
NM_001142800.2(EYS):c.6726-7C>T rs886782734 0.00003
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=) rs370845590 0.00003
NM_001164508.2(NEB):c.104C>T (p.Thr35Met) rs749153659 0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr) rs201614105 0.00003
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys) rs753450456 0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078 0.00003
NM_001164508.2(NEB):c.11806-7C>A rs779713133 0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys) rs756162358 0.00003
NM_001164508.2(NEB):c.1339A>G (p.Met447Val) rs774284999 0.00003
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met) rs200952733 0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744 0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met) rs553079055 0.00003
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=) rs371194689 0.00003
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys) rs762552898 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys) rs200826420 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His) rs767207985 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu) rs750689059 0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp) rs762220487 0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys) rs542275170 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln) rs779983347 0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=) rs372664114 0.00003
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys) rs764769462 0.00003
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp) rs1219268531 0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile) rs376288418 0.00003
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=) rs371962475 0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr) rs371639863 0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149 0.00003
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp) rs368148074 0.00003
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064 0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile) rs536239913 0.00003
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00003
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys) rs200494845 0.00003
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro) rs769275003 0.00003
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile) rs375218798 0.00003
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys) rs116128702 0.00003
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp) rs747326567 0.00003
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830 0.00003
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val) rs189971831 0.00003
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=) rs752656841 0.00003
NM_001369.3(DNAH5):c.8821-7A>G rs776228125 0.00003
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile) rs555151297 0.00003
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=) rs573112017 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=) rs373181158 0.00003
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln) rs748133401 0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=) rs563296138 0.00003
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp) rs537948663 0.00003
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser) rs760918699 0.00003
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn) rs145222195 0.00003
NM_002529.4(NTRK1):c.954T>C (p.Asn318=) rs769539870 0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=) rs748677211 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=) rs374691393 0.00003
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004937.3(CTNS):c.621C>T (p.Phe207=) rs749428707 0.00003
NM_005609.4(PYGM):c.780C>T (p.Val260=) rs754415422 0.00003
NM_006096.4(NDRG1):c.42G>A (p.Lys14=) rs753261868 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=) rs750559102 0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=) rs140707035 0.00003
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=) rs768390657 0.00003
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=) rs766731589 0.00003
NM_014244.5(ADAMTS2):c.891+9G>A rs749508251 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=) rs1345090533 0.00003
NM_014844.5(TECPR2):c.351T>G (p.Leu117=) rs771585977 0.00003
NM_014844.5(TECPR2):c.999G>A (p.Ser333=) rs369972265 0.00003
NM_018941.4(CLN8):c.582G>A (p.Gln194=) rs139824802 0.00003
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=) rs750233738 0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) rs763701016 0.00003
NM_000018.4(ACADVL):c.519C>T (p.Gly173=) rs757830946 0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925 0.00002
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412 0.00002
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928 0.00002
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=) rs761063847 0.00002
NM_000048.4(ASL):c.919-4G>A rs756230523 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) rs1385333276 0.00002
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=) rs757244072 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=) rs367855757 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met) rs377763372 0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=) rs773201784 0.00002
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val) rs546776797 0.00002
NM_000094.4(COL7A1):c.4636-9T>C rs760840151 0.00002
NM_000094.4(COL7A1):c.477T>C (p.Ala159=) rs910778254 0.00002
NM_000094.4(COL7A1):c.5532+8T>C rs1321882939 0.00002
NM_000094.4(COL7A1):c.5701-10C>T rs1471404340 0.00002
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=) rs934784670 0.00002
NM_000098.3(CPT2):c.340+10C>G rs781682674 0.00002
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572 0.00002
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259 0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) rs780135578 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) rs767455904 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) rs779131886 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072 0.00002
NM_000152.5(GAA):c.1881C>T (p.Ser627=) rs779328815 0.00002
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393 0.00002
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.583-4G>T rs751820306 0.00002
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala) rs757297254 0.00002
NM_000199.5(SGSH):c.1371T>C (p.Phe457=) rs867660906 0.00002
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239 0.00002
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037 0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234 0.00002
NM_000203.5(IDUA):c.793-5C>T rs773072991 0.00002
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val) rs767383120 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000246.4(CIITA):c.1527C>T (p.Gly509=) rs1427227633 0.00002
NM_000246.4(CIITA):c.2343G>A (p.Ser781=) rs749019138 0.00002
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=) rs772387879 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051 0.00002
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578 0.00002
NM_000277.3(PAH):c.870T>C (p.His290=) rs751203209 0.00002
NM_000317.3(PTS):c.186+9A>G rs202139885 0.00002
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=) rs137868047 0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=) rs1345535328 0.00002
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=) rs773042150 0.00002
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422 0.00002
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val) rs781955237 0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser) rs1378005125 0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=) rs781987630 0.00002
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val) rs782470087 0.00002
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu) rs1332447363 0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=) rs61757291 0.00002
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=) rs200206561 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000528.4(MAN2B1):c.1109+10G>A rs779635675 0.00002
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=) rs398123491 0.00002
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=) rs772457864 0.00002
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=) rs532892332 0.00002
NM_001142800.2(EYS):c.-351C>T rs761045622 0.00002
NM_001142800.2(EYS):c.151T>C (p.Leu51=) rs757997501 0.00002
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn) rs372827767 0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val) rs761174573 0.00002
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln) rs748799656 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys) rs759419548 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn) rs374867405 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile) rs553375465 0.00002
NM_001164508.2(NEB):c.18366+9G>A rs759834773 0.00002
NM_001164508.2(NEB):c.18693+9_18693+10del rs756671954 0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870 0.00002
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585 0.00002
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His) rs757278862 0.00002
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg) rs779842159 0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089 0.00002
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629 0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377 0.00002
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val) rs368315910 0.00002
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr) rs1289511955 0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr) rs373852098 0.00002
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu) rs372387518 0.00002
NM_001164508.2(NEB):c.23650-5T>G rs773618223 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.2490G>A (p.Leu830=) rs1259136731 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 0.00002
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys) rs1377050628 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp) rs758590520 0.00002
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu) rs765273968 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala) rs756000690 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val) rs755853362 0.00002
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile) rs760968740 0.00002
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038 0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu) rs770322824 0.00002
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=) rs753267809 0.00002
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln) rs772837483 0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=) rs746644593 0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015 0.00002
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg) rs763822076 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 0.00002
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551 0.00002
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn) rs1215107095 0.00002
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968 0.00002
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=) rs765391783 0.00002
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) rs143612682 0.00002
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys) rs776854779 0.00002
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys) rs150357258 0.00002
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys) rs777295839 0.00002
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg) rs781059966 0.00002
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His) rs370272258 0.00002
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln) rs142373364 0.00002
NM_001369.3(DNAH5):c.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103 0.00002
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met) rs745381842 0.00002
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln) rs775506164 0.00002
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met) rs747116308 0.00002
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met) rs190749755 0.00002
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=) rs767344710 0.00002
NM_001369.3(DNAH5):c.660+10A>G rs750383077 0.00002
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln) rs558294959 0.00002
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys) rs1469012975 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile) rs548585661 0.00002
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met) rs750809719 0.00002
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=) rs765029802 0.00002
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln) rs752552477 0.00002
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=) rs543265562 0.00002
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala) rs747085519 0.00002
NM_001876.4(CPT1A):c.432T>C (p.Ser144=) rs751979703 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln) rs199826686 0.00002
NM_002529.4(NTRK1):c.1805+8C>A rs780424308 0.00002
NM_002529.4(NTRK1):c.2205+10G>A rs368713268 0.00002
NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln) rs748402400 0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe) rs778716973 0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=) rs1226557478 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_006096.4(NDRG1):c.141G>A (p.Thr47=) rs750933446 0.00002
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=) rs1264262485 0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252 0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=) rs1037190907 0.00002
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=) rs1330988861 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=) rs535003448 0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=) rs773270584 0.00002
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=) rs770308751 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile) rs190315828 0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) rs765924507 0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=) rs760171272 0.00002
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=) rs189680814 0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=) rs1397608904 0.00002
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=) rs779770406 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000022.4(ADA):c.479-9C>T rs761848284 0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267 0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967 0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln) rs782066367 0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu) rs781866876 0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319 0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00001
NM_000049.4(ASPA):c.448C>T (p.Leu150=) rs1597432362 0.00001
NM_000049.4(ASPA):c.867C>T (p.Tyr289=) rs375736464 0.00001
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn) rs34083085 0.00001
NM_000051.4(ATM):c.2839-10A>G rs770032309 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.6096-3T>C rs748380897 0.00001
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser) rs946942912 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000051.4(ATM):c.7308-10T>G rs745319720 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.8988-7T>G rs1487809821 0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=) rs1371066375 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) rs755237462 0.00001
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) rs896503662 0.00001
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=) rs146232015 0.00001
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410 0.00001
NM_000053.4(ATP7B):c.3557-8C>T rs765668065 0.00001
NM_000053.4(ATP7B):c.3700-7G>A rs756742483 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657 0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047 0.00001
NM_000057.4(BLM):c.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2555+8G>A rs1388713132 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) rs1019687102 0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126 0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=) rs766405190 0.00001
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=) rs755010088 0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=) rs750311684 0.00001
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His) rs768672251 0.00001
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp) rs200762860 0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=) rs549271654 0.00001
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser) rs773229775 0.00001
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His) rs540205999 0.00001
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp) rs763751979 0.00001
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=) rs778777140 0.00001
NM_000094.4(COL7A1):c.3831+3G>A rs767241808 0.00001
NM_000094.4(COL7A1):c.4635+10G>A rs749722600 0.00001
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=) rs776433840 0.00001
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=) rs371009419 0.00001
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=) rs763329165 0.00001
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu) rs377112899 0.00001
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=) rs199843749 0.00001
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met) rs757102252 0.00001
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=) rs1054273238 0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=) rs751768659 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389 0.00001
NM_000098.3(CPT2):c.36G>C (p.Arg12=) rs1350688021 0.00001
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000108.5(DLD):c.199-7G>T rs1358100638 0.00001
NM_000126.4(ETFA):c.321C>T (p.His107=) rs368550471 0.00001
NM_000126.4(ETFA):c.759T>C (p.Asp253=) rs142970498 0.00001
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) rs746373917 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2779-9C>G rs764825402 0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) rs199916178 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr) rs774054025 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000151.4(G6PC1):c.340+7G>A rs570199529 0.00001
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 0.00001
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277 0.00001
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772 0.00001
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000158.4(GBE1):c.1335+9C>G rs754084067 0.00001
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542 0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln) rs767652664 0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=) rs1034614089 0.00001
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373 0.00001
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998 0.00001
NM_000199.5(SGSH):c.1455C>T (p.Gly485=) rs757563981 0.00001
NM_000199.5(SGSH):c.355+9C>T rs746912493 0.00001
NM_000199.5(SGSH):c.356-6G>A rs764808311 0.00001
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566 0.00001
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466 0.00001
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788 0.00001
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273 0.00001
NM_000203.5(IDUA):c.1398C>T (p.Gly466=) rs1370338557 0.00001
NM_000203.5(IDUA):c.1403-11A>G rs1335436961 0.00001
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994 0.00001
NM_000203.5(IDUA):c.972+8G>A rs774327124 0.00001
NM_000206.3(IL2RG):c.311A>T (p.His104Leu) rs770804846 0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp) rs758080286 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000243.3(MEFV):c.1455G>A (p.Glu485=) rs958054431 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.30G>A (p.Leu10=) rs553819712 0.00001
NM_000243.3(MEFV):c.405C>T (p.Tyr135=) rs766323718 0.00001
NM_000243.3(MEFV):c.411C>T (p.Gly137=) rs1266277814 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000246.4(CIITA):c.1149C>T (p.Ala383=) rs748867171 0.00001
NM_000246.4(CIITA):c.200-9T>C rs778238111 0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=) rs200577013 0.00001
NM_000246.4(CIITA):c.2994G>A (p.Lys998=) rs1286058878 0.00001
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=) rs763766993 0.00001
NM_000246.4(CIITA):c.3233+7G>A rs765558693 0.00001
NM_000246.4(CIITA):c.436+9del rs1567398077 0.00001
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267 0.00001
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) rs752651149 0.00001
NM_000255.4(MMUT):c.1659G>A (p.Val553=) rs764316430 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 0.00001
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920 0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=) rs369806549 0.00001
NM_000277.3(PAH):c.198A>G (p.Glu66=) rs117308669 0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905 0.00001
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075 0.00001
NM_000310.4(PPT1):c.12C>T (p.Pro4=) rs140289866 0.00001
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) rs1256418853 0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815 0.00001
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile) rs376206979 0.00001
NM_000352.6(ABCC8):c.2391-5G>A rs370096884 0.00001
NM_000352.6(ABCC8):c.2391-6C>T rs556416038 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=) rs769968875 0.00001
NM_000352.6(ABCC8):c.4119+10C>T rs201955628 0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=) rs752222583 0.00001
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=) rs747402972 0.00001
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser) rs574487898 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn) rs782313786 0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser) rs1557141410 0.00001
NM_000489.6(ATRX):c.16A>G (p.Met6Val) rs782080475 0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492 0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu) rs571313578 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val) rs1064796774 0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg) rs1569538747 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr) rs374291079 0.00001
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe) rs782619383 0.00001
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala) rs781912326 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000489.6(ATRX):c.5559C>T (p.His1853=) rs1557096973 0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu) rs782773652 0.00001
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys) rs782241890 0.00001
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=) rs747504631 0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745 0.00001
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298 0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn) rs983279303 0.00001
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) rs544454389 0.00001
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=) rs768928152 0.00001
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=) rs752745892 0.00001
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=) rs745626507 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=) rs370835628 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2529C>T (p.Asp843=) rs374635484 0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933 0.00001
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=) rs545541738 0.00001
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=) rs1318861970 0.00001
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00001
NM_000642.3(AGL):c.1650A>G (p.Leu550=) rs778806512 0.00001
NM_000642.3(AGL):c.2002-5T>A rs201718705 0.00001
NM_000642.3(AGL):c.3642C>T (p.Gly1214=) rs1261746082 0.00001
NM_000642.3(AGL):c.3771C>T (p.Gly1257=) rs760738241 0.00001
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250 0.00001
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225 0.00001
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=) rs1325335839 0.00001
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=) rs779784002 0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=) rs1042931370 0.00001
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=) rs890076073 0.00001
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=) rs201364943 0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=) rs1342639553 0.00001
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=) rs745351348 0.00001
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=) rs763174826 0.00001
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=) rs370153031 0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) rs782292086 0.00001
NM_001164277.2(SLC37A4):c.786-7A>G rs781887799 0.00001
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=) rs777930884 0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu) rs377027708 0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala) rs1316575607 0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe) rs757175445 0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838 0.00001
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264 0.00001
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met) rs780157705 0.00001
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=) rs752937326 0.00001
NM_001164508.2(NEB):c.12640-10C>T rs1264692800 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe) rs749473348 0.00001
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943 0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln) rs773983252 0.00001
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601 0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918 0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser) rs1221212842 0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549 0.00001
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=) rs1300207920 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn) rs766403303 0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=) rs773178453 0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn) rs752626000 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val) rs747034126 0.00001
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn) rs534519331 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697 0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His) rs767230683 0.00001
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile) rs779881258 0.00001
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=) rs778067687 0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=) rs767655200 0.00001
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile) rs749168085 0.00001
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro) rs777945797 0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp) rs778063345 0.00001
NM_001164508.2(NEB):c.21841-6T>A rs767466501 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val) rs550296441 0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys) rs768826001 0.00001
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu) rs376495046 0.00001
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr) rs746454129 0.00001
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn) rs758761216 0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu) rs768880396 0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln) rs767969927 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.24021+8G>A rs1361035933 0.00001
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His) rs775139388 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24873+7C>T rs372378614 0.00001
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=) rs766453942 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164508.2(NEB):c.2755C>G (p.His919Asp) rs373168257 0.00001
NM_001164508.2(NEB):c.2892T>C (p.Phe964=) rs762595663 0.00001
NM_001164508.2(NEB):c.2954G>A (p.Arg985His) rs769987120 0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala) rs1043417027 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=) rs1448712345 0.00001
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp) rs574309369 0.00001
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met) rs1404806019 0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met) rs757659868 0.00001
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val) rs371816204 0.00001
NM_001164508.2(NEB):c.3568-10A>G rs774345653 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572 0.00001
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys) rs1306269352 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=) rs201539560 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys) rs753064438 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp) rs756398214 0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser) rs774148469 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys) rs762107662 0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr) rs777601721 0.00001
NM_001164508.2(NEB):c.718-6C>T rs371791129 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515 0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr) rs571451076 0.00001
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr) rs375216853 0.00001
NM_001164508.2(NEB):c.761C>T (p.Thr254Met) rs376835458 0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097 0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His) rs548343514 0.00001
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser) rs200672688 0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=) rs774786443 0.00001
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219 0.00001
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=) rs373833313 0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met) rs564504601 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=) rs148814769 0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247 0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 0.00001
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994 0.00001
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln) rs775060022 0.00001
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp) rs749640233 0.00001
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp) rs768164911 0.00001
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp) rs752895938 0.00001
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=) rs774115728 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 0.00001
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=) rs148805204 0.00001
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn) rs141072655 0.00001
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg) rs564653952 0.00001
NM_001369.3(DNAH5):c.2259+8A>G rs202137813 0.00001
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 0.00001
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys) rs775816222 0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile) rs1364628669 0.00001
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala) rs761168416 0.00001
NM_001369.3(DNAH5):c.4054-4T>C rs200608915 0.00001
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met) rs779020258 0.00001
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=) rs142806046 0.00001
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val) rs1311080684 0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) rs752339132 0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) rs368576880 0.00001
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val) rs1259929811 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu) rs757970855 0.00001
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=) rs562255121 0.00001
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138 0.00001
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu) rs1318152994 0.00001
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile) rs756216163 0.00001
NM_001369.3(DNAH5):c.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp) rs753913853 0.00001
NM_001369.3(DNAH5):c.9897+9A>G rs774932799 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001875.5(CPS1):c.3303G>A (p.Val1101=) rs774531676 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.390T>A (p.Gly130=) rs577598098 0.00001
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln) rs765106604 0.00001
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=) rs760474415 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=) rs779798363 0.00001
NM_002529.4(NTRK1):c.12C>T (p.Gly4=) rs757229319 0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) rs200937156 0.00001
NM_002529.4(NTRK1):c.1647G>A (p.Ala549=) rs771010259 0.00001
NM_002529.4(NTRK1):c.1650C>T (p.Ser550=) rs774664479 0.00001
NM_002529.4(NTRK1):c.1734C>G (p.Val578=) rs953974597 0.00001
NM_002529.4(NTRK1):c.2047-6T>C rs762866535 0.00001
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=) rs1371693296 0.00001
NM_003384.3(VRK1):c.576+9A>G rs978347799 0.00001
NM_003384.3(VRK1):c.577-4A>G rs1194395636 0.00001
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=) rs371346432 0.00001
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=) rs1566438384 0.00001
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=) rs768649205 0.00001
NM_003982.4(SLC7A7):c.998+9G>C rs1350841635 0.00001
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser) rs1326680081 0.00001
NM_004006.3(DMD):c.5439T>C (p.Asn1813=) rs1238738620 0.00001
NM_004035.7(ACOX1):c.659-4G>A rs746563980 0.00001
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) rs747312700 0.00001
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) rs755342205 0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=) rs754247532 0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920 0.00001
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.766C>T (p.Leu256=) rs898573925 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=) rs587623477 0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=) rs782546296 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=) rs370227291 0.00001
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268 0.00001
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186 0.00001
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=) rs1288231534 0.00001
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=) rs746088783 0.00001
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=) rs751565994 0.00001
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=) rs767485549 0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=) rs545614481 0.00001
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) rs765318084 0.00001
NM_014844.5(TECPR2):c.879A>G (p.Ser293=) rs770891190 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_018941.4(CLN8):c.256C>T (p.Leu86=) rs755248868 0.00001
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=) rs774271399 0.00001
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=) rs757935075 0.00001
NM_022042.4(SLC26A1):c.*874C>T rs775172497 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=) rs782279681 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_052845.4(MMAB):c.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_138694.4(PKHD1):c.2141-4C>G rs1042054004 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=) rs758231968 0.00001
NM_138694.4(PKHD1):c.414C>T (p.Ile138=) rs368595925 0.00001
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) rs549418638 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=) rs200807210 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=) rs547516730 0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) rs199748413 0.00001
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=) rs185477101 0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) rs766658666 0.00001
NM_152564.5(VPS13B):c.11215+8G>T rs1285906381 0.00001
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=) rs1847925535 0.00001
NM_152564.5(VPS13B):c.114C>T (p.Ser38=) rs768496696 0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=) rs772922484 0.00001
NM_152564.5(VPS13B):c.5221-5T>C rs761788793 0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=) rs765209957 0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) rs758430817 0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664 0.00001
NM_182760.4(SUMF1):c.602+10G>T rs376667963 0.00001
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171 0.00001
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102 0.00001
NM_205861.3(DHDDS):c.324-4T>G rs747118618 0.00001
NM_205861.3(DHDDS):c.366C>T (p.Gly122=) rs774001400 0.00001
NM_205861.3(DHDDS):c.57C>T (p.Ile19=) rs981419090 0.00001
NM_205861.3(DHDDS):c.987C>T (p.Gly329=) rs1381026387 0.00001
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000022.4(ADA):c.708G>A (p.Leu236=) rs757155433
NM_000022.4(ADA):c.825C>T (p.Asp275=) rs778167423
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) rs1887821307
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777
NM_000048.4(ASL):c.402C>A (p.Gly134=) rs1308519514
NM_000049.4(ASPA):c.723T>C (p.Ala241=) rs2073877008
NM_000051.4(ATM):c.1899-7C>A rs1060501584
NM_000051.4(ATM):c.2112T>C (p.Asn704=) rs2080317012
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2467-8C>G rs1425701157
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2952A>G (p.Gln984=) rs1476499901
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe) rs786202470
NM_000051.4(ATM):c.3258C>T (p.Arg1086=) rs773277362
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3403-4T>C rs1591636158
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+4T>C rs2082390512
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala) rs778482902
NM_000051.4(ATM):c.8419-7_8419-4del rs730881306
NM_000051.4(ATM):c.846A>T (p.Leu282Phe) rs754008850
NM_000051.4(ATM):c.8787-6C>T rs1591313765
NM_000051.4(ATM):c.8987+5G>C rs876660570
NM_000051.4(ATM):c.928A>G (p.Ser310Gly) rs745773225
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) rs1951990469
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=) rs1482077950
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.2356-9A>G rs1339073174
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.360C>T (p.Gly120=) rs1952028232
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=) rs1395442643
NM_000053.4(ATP7B):c.690T>C (p.Thr230=) rs1033565003
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000070.3(CAPN3):c.1002C>T (p.His334=) rs374833797
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1293G>A (p.Val431=) rs1009544440
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=) rs746786954
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=) rs770894443
NM_000070.3(CAPN3):c.222T>G (p.Leu74=) rs551850600
NM_000070.3(CAPN3):c.632+8A>G rs2053447422
NM_000070.3(CAPN3):c.864A>G (p.Ala288=) rs1555420768
NM_000070.3(CAPN3):c.946-9_946-5del rs758101156
NM_000071.3(CBS):c.1071C>T (p.Ala357=) rs368206976
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=) rs200882719
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=) rs1388911281
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn) rs538387822
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=) rs748086542
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=) rs142681592
NM_000094.4(COL7A1):c.279C>T (p.Gly93=) rs745864625
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val) rs767643638
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr) rs143245957
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=) rs141825319
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp) rs769297158
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=) rs1575449774
NM_000094.4(COL7A1):c.5425-6_5425-5del rs762085901
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=) rs2044195363
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=) rs779587550
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=) rs199936185
NM_000094.4(COL7A1):c.831G>A (p.Pro277=) rs749004650
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala) rs140041143
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys) rs372166543
NM_000098.3(CPT2):c.1041C>T (p.Gly347=) rs985374504
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000108.5(DLD):c.597A>G (p.Thr199=) rs768248572
NM_000126.4(ETFA):c.351+9G>A rs2039774067
NM_000126.4(ETFA):c.36G>A (p.Arg12=) rs1299355915
NM_000128.4(F11):c.1028+9T>G rs376630194
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.2014+10G>T rs1567620967
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala) rs762079136
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) rs780776360
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.645G>T (p.Pro215=) rs151221329
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.2112A>C (p.Ala704=) rs1449566083
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2307G>A (p.Leu769=) rs372800172
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.516C>T (p.Ala172=) rs1248283732
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.864G>A (p.Thr288=) rs201247556
NM_000158.4(GBE1):c.1656A>C (p.Pro552=) rs1340229013
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000159.4(GCDH):c.1287G>A (p.Thr429=) rs141819282
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.2859C>G (p.Thr953=) rs1817083513
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.765C>T (p.Val255=) rs778296169
NM_000203.5(IDUA):c.1149C>T (p.Arg383=) rs767632084
NM_000203.5(IDUA):c.1491G>A (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.618G>A (p.Ser206=) rs377312287
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000246.4(CIITA):c.1044G>T (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.2142A>G (p.Gln714=) rs188988714
NM_000246.4(CIITA):c.2259C>T (p.Gly753=) rs754313400
NM_000246.4(CIITA):c.2331G>A (p.Ser777=) rs34685848
NM_000246.4(CIITA):c.2658-10C>T rs1337213724
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.4(CIITA):c.649T>C (p.Leu217=) rs773897183
NM_000271.5(NPC1):c.1089G>T (p.Ala363=) rs901122746
NM_000271.5(NPC1):c.180+8C>A rs778096289
NM_000271.5(NPC1):c.2079G>A (p.Leu693=) rs2058754303
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=) rs1374064168
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000274.4(OAT):c.966A>T (p.Thr322=) rs1951417723
NM_000277.3(PAH):c.1065+9T>G rs1874730997
NM_000277.3(PAH):c.1066-7C>T rs1242756437
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.54T>C (p.Phe18=) rs1878411076
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1192-3_1192-2del rs780969059
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000352.6(ABCC8):c.1672-20A>T rs931436550
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=) rs1955020359
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=) rs565968675
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3651-4C>G rs1954058406
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=) rs1334003978
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000489.6(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.6(ATRX):c.1842C>T (p.Gly614=) rs2071364653
NM_000489.6(ATRX):c.2592G>T (p.Gly864=) rs782526944
NM_000489.6(ATRX):c.39A>G (p.Thr13=) rs1244422748
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2490+7A>G rs751864459
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=) rs780878883
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000520.6(HEXA):c.1421+7del rs747378954
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1987+6G>C rs752382813
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.396G>A (p.Arg132=) rs2077269758
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000642.3(AGL):c.1263A>G (p.Arg421=) rs1175506369
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) rs781127120
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=) rs2039381646
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=) rs398123514
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.1698T>C (p.Asn566=) rs1156347961
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=) rs1770908773
NM_001142800.2(EYS):c.7579-11dup rs1044534941
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=) rs1768354975
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe) rs567419206
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=) rs1388277495
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys) rs765175171
NM_001164508.2(NEB):c.1074A>G (p.Lys358=) rs2099709094
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001164508.2(NEB):c.12535-10C>T rs2097760296
NM_001164508.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=) rs1578890458
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001164508.2(NEB):c.13477-7C>T rs1328191142
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001164508.2(NEB):c.1434A>G (p.Glu478=) rs2149351968
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His) rs371681892
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=) rs757188494
NM_001164508.2(NEB):c.1900T>C (p.Leu634=) rs1576526817
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly) rs376072545
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser) rs750642580
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys) rs762019205
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg) rs776379234
NM_001164508.2(NEB):c.24486+10G>A rs755064162
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp) rs200804762
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr) rs376984481
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val) rs765478068
NM_001164508.2(NEB):c.2904A>G (p.Glu968=) rs2099429615
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly) rs371710158
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.4507-3del rs767772701
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val) rs751602407
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001164508.2(NEB):c.508-6G>A rs374227241
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln) rs531692437
NM_001164508.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys) rs756956766
NM_001164508.2(NEB):c.8469G>A (p.Val2823=) rs1574818802
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg) rs539367087
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys) rs765150200
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly) rs747041428
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val) rs1044439678
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln) rs761043906
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr) rs145685491
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val) rs138162689
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=) rs773285536
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys) rs189145014
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val) rs766505155
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile) rs1024785789
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) rs143679999
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val) rs750936569
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly) rs762677340
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu) rs551261693
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.74C>T (p.Ala25Val) rs149570645
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=) rs1314725177
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=) rs1855045353
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=) rs755323437
NM_001876.4(CPT1A):c.2235+9G>A rs1946761066
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002529.4(NTRK1):c.1196-9T>C rs760602338
NM_002529.4(NTRK1):c.1521C>T (p.Arg507=) rs901135479
NM_002529.4(NTRK1):c.1569G>A (p.Lys523=) rs1647889781
NM_002529.4(NTRK1):c.2301G>A (p.Glu767=) rs753397054
NM_002529.4(NTRK1):c.435G>C (p.Leu145=) rs1647275742
NM_003982.4(SLC7A7):c.499+9G>C rs893853391
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) rs1284823413
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) rs143873407
NM_004453.4(ETFDH):c.1469-8T>C rs1774625470
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) rs533097197
NM_004453.4(ETFDH):c.606+10GTTTT[2] rs745580994
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004937.3(CTNS):c.1029C>A (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005609.4(PYGM):c.1769-7T>C rs2058357396
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.999+9C>T rs183026465
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) rs2233322
NM_006096.4(NDRG1):c.666C>A (p.Gly222=) rs1432095364
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006493.4(CLN5):c.162G>A (p.Pro54=) rs754303449
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=) rs1282648211
NM_012243.3(SLC35A3):c.888-10T>A rs750539187
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=) rs1167569087
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=) rs375775300
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=) rs758599662
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=) rs571054777
NM_014297.5(ETHE1):c.378G>T (p.Ala126=) rs138427304
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=) rs199827410
NM_014844.5(TECPR2):c.423A>G (p.Lys141=) rs756199626
NM_014844.5(TECPR2):c.726A>T (p.Leu242=) rs748794723
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_018941.4(CLN8):c.234A>G (p.Thr78=) rs1450867136
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=) rs1481445686
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu) rs574801192
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) rs587774476
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=) rs1581893486
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile) rs138672830
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=) rs1581909859
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) rs1581815094
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=) rs1373102999
NM_138694.4(PKHD1):c.402G>A (p.Ala134=) rs200992930
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=) rs1802043497
NM_138694.4(PKHD1):c.449-6A>T rs200204976
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.534G>A (p.Val178=) rs1226545035
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser) rs551783157
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=) rs368194577
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=) rs765985090
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=) rs752563887
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=) rs61753726
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=) rs2130339813
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val) rs779095081
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe) rs148404005
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105

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