NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000065.5(C6):c.1138del (p.Gln380fs)
|
rs375762365
|
0.00206
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)
|
rs61495246
|
0.00107
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_000392.5(ABCC2):c.1967+1G>A
|
rs146405172
|
0.00078
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00066
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)
|
rs144042123
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
0.00049
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)
|
rs138004478
|
0.00043
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)
|
rs756587384
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)
|
rs200353633
|
0.00032
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)
|
rs778926161
|
0.00031
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)
|
rs28936396
|
0.00029
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)
|
rs137852638
|
0.00026
|
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)
|
rs199621031
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_030653.4(DDX11):c.1763-1G>C
|
rs148856317
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
|
rs189261858
|
0.00023
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)
|
rs140202230
|
0.00023
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00022
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)
|
rs139076647
|
0.00022
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00021
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00021
|
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)
|
rs149102421
|
0.00021
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)
|
rs189448963
|
0.00021
|
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)
|
rs114733570
|
0.00021
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
NM_199242.3(UNC13D):c.118-308C>T
|
rs959968589
|
0.00021
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)
|
rs150335311
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)
|
rs376983373
|
0.00019
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)
|
rs146802593
|
0.00019
|
NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)
|
rs587776588
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000392.5(ABCC2):c.3258+1G>A
|
rs762243203
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_001171.6(ABCC6):c.2787+1G>T
|
rs72664209
|
0.00017
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00017
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00017
|
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)
|
rs202146344
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00016
|
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)
|
rs121908088
|
0.00016
|
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter)
|
rs368844341
|
0.00016
|
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)
|
rs201258823
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_002340.6(LSS):c.530G>A (p.Arg177Gln)
|
rs142081800
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)
|
rs587777069
|
0.00016
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00015
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)
|
rs150954655
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)
|
rs200167311
|
0.00015
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)
|
rs121908083
|
0.00014
|
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)
|
rs773850151
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)
|
rs119472029
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)
|
rs121434287
|
0.00014
|
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)
|
rs199573774
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001395891.1(CLASP1):c.196-591C>T
|
rs756026847
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
|
rs137852991
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00012
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser)
|
rs183838250
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)
|
rs119478059
|
0.00012
|
NM_021074.5(NDUFV2):c.62_63del (p.His21fs)
|
rs754873418
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)
|
rs199638531
|
0.00011
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)
|
rs774702094
|
0.00011
|
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu)
|
rs200018415
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter)
|
rs765113367
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)
|
rs771336246
|
0.00011
|
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met)
|
rs34675173
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
NM_144991.3(TSPEAR):c.38del (p.Leu13fs)
|
rs778688031
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
|
rs779585931
|
0.00010
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)
|
rs121434407
|
0.00010
|
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)
|
rs200451408
|
0.00010
|
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)
|
rs118203989
|
0.00010
|
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)
|
rs375761361
|
0.00010
|
NM_001184.4(ATR):c.6897+464C>G
|
rs587777852
|
0.00010
|
NM_001194998.2(CEP152):c.3249del (p.Val1084fs)
|
rs754267846
|
0.00010
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter)
|
rs1407028917
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_003573.2(LTBP4):c.254del (p.Leu85fs)
|
rs747013505
|
0.00010
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_024666.5(AAGAB):c.1A>G (p.Met1Val)
|
rs539301011
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)
|
rs149992595
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_176787.5(PIGN):c.548_549+6del
|
rs779636222
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)
|
rs121917868
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)
|
rs368386747
|
0.00009
|
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)
|
rs9332967
|
0.00009
|
NM_000383.4(AIRE):c.1095+2T>C
|
rs760280615
|
0.00009
|
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)
|
rs17222547
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)
|
rs141257714
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001177701.3(IFT27):c.352+1G>T
|
rs780659194
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)
|
rs139484231
|
0.00009
|
NM_001297.5(CNGB1):c.2794+1G>A
|
rs770011113
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)
|
rs377708973
|
0.00009
|
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)
|
rs121964881
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_002905.5(RDH5):c.500G>A (p.Arg167His)
|
rs199877211
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)
|
rs751845138
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00009
|
NM_017433.5(MYO3A):c.315del (p.Gly106fs)
|
rs777580042
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)
|
rs752473648
|
0.00009
|
NM_024854.5(PYROXD1):c.285+1G>A
|
rs369083786
|
0.00009
|
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)
|
rs730882143
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)
|
rs148284531
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
|
rs143739249
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)
|
rs764323652
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)
|
rs121965040
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)
|
rs28939702
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser)
|
rs368512412
|
0.00008
|
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)
|
rs727502974
|
0.00008
|
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)
|
rs374420253
|
0.00008
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
|
rs118031911
|
0.00008
|
NM_006907.4(PYCR1):c.633+1G>C
|
rs144346996
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_025243.4(SLC19A3):c.980-14A>G
|
rs200542114
|
0.00008
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)
|
rs371296953
|
0.00007
|
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)
|
rs201502095
|
0.00007
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
NM_000479.5(AMH):c.905G>A (p.Arg302Gln)
|
rs536688211
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter)
|
rs920852517
|
0.00007
|
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
|
rs751369871
|
0.00007
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)
|
rs749421099
|
0.00007
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
|
rs137852761
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_016035.5(COQ4):c.202G>C (p.Asp68His)
|
rs758522459
|
0.00007
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)
|
rs781691587
|
0.00007
|
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)
|
rs750093817
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)
|
rs121908006
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)
|
rs104894552
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)
|
rs179363892
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000153.4(GALC):c.265-2A>G
|
rs199710405
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00006
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)
|
rs137852618
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_000270.4(PNP):c.701G>C (p.Arg234Pro)
|
rs104894451
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
|
rs61749410
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)
|
rs397514524
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000375.3(UROS):c.63+1G>A
|
rs373864821
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)
|
rs121909835
|
0.00006
|
NM_000440.3(PDE6A):c.2275-1G>A
|
rs1428612396
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)
|
rs187885782
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val)
|
rs202128350
|
0.00006
|
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)
|
rs199545653
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)
|
rs374086268
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)
|
rs1196317554
|
0.00006
|
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)
|
rs199636364
|
0.00006
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg)
|
rs62639270
|
0.00006
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)
|
rs146988468
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00006
|
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)
|
rs755946598
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)
|
rs72553882
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
|
rs200151282
|
0.00006
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)
|
rs140800288
|
0.00006
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)
|
rs771157170
|
0.00006
|
NM_016011.5(MECR):c.830+2dup
|
rs756421370
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter)
|
rs121907892
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)
|
rs782531869
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_183065.4(TMEM107):c.*686A>G
|
rs201558321
|
0.00006
|
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)
|
rs200956636
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000183.3(HADHB):c.182G>A (p.Arg61His)
|
rs121913132
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)
|
rs104894172
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
0.00005
|
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
NM_000374.5(UROD):c.199G>T (p.Glu67Ter)
|
rs763086647
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)
|
rs104894328
|
0.00005
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)
|
rs752101663
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)
|
rs752509098
|
0.00005
|
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)
|
rs151264767
|
0.00005
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter)
|
rs560339163
|
0.00005
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001395891.1(CLASP1):c.196-602C>T
|
rs863225422
|
0.00005
|
NM_001737.5(C9):c.460C>T (p.Arg154Ter)
|
rs144138616
|
0.00005
|
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)
|
rs374843706
|
0.00005
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00005
|
NM_002529.4(NTRK1):c.575-19G>A
|
rs370828525
|
0.00005
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)
|
rs377216516
|
0.00005
|
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)
|
rs113994068
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)
|
rs148953711
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter)
|
rs200416242
|
0.00005
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)
|
rs771466122
|
0.00005
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
|
rs387906917
|
0.00005
|
NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly)
|
rs587777252
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu)
|
rs765990518
|
0.00005
|
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)
|
rs142083484
|
0.00005
|
NM_173630.4(RTTN):c.88G>T (p.Glu30Ter)
|
rs200495808
|
0.00005
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)
|
rs766328537
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)
|
rs760713333
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)
|
rs148317787
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00004
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.70del (p.Asp24fs)
|
rs1407149518
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)
|
rs781477694
|
0.00004
|
NM_000159.4(GCDH):c.848del (p.Leu283fs)
|
rs761491320
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)
|
rs375329638
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_000190.4(HMBS):c.992C>T (p.Ala331Val)
|
rs770086296
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_000275.3(OCA2):c.941T>G (p.Val314Gly)
|
rs762262964
|
0.00004
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)
|
rs121918154
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)
|
rs141823837
|
0.00004
|
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
|
rs369973540
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
|
rs121918718
|
0.00004
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00004
|
NM_000392.5(ABCC2):c.1031+4A>G
|
rs373384181
|
0.00004
|
NM_000398.7(CYB5R3):c.464-2A>C
|
rs794728013
|
0.00004
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)
|
rs149889416
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)
|
rs768028181
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00004
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)
|
rs104893783
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter)
|
rs750797779
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)
|
rs770749420
|
0.00004
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00004
|
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)
|
rs768527231
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter)
|
rs748994888
|
0.00004
|
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)
|
rs377546036
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_001195518.2(MICU1):c.161+1G>A
|
rs375502236
|
0.00004
|
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)
|
rs757905943
|
0.00004
|
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)
|
rs752338222
|
0.00004
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)
|
rs772430523
|
0.00004
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)
|
rs368654019
|
0.00004
|
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)
|
rs1350329646
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00004
|
NM_001378609.3(OTOGL):c.63del (p.Leu22fs)
|
rs376104832
|
0.00004
|
NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)
|
rs1237954156
|
0.00004
|
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val)
|
rs891693382
|
0.00004
|
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)
|
rs121964924
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)
|
rs769236847
|
0.00004
|
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)
|
rs145536062
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
|
rs193922641
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)
|
rs374343844
|
0.00004
|
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)
|
rs374133543
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)
|
rs113993970
|
0.00004
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
NM_003114.5(SPAG1):c.1519dup (p.Ile507fs)
|
rs763569711
|
0.00004
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003235.5(TG):c.475C>T (p.Arg159Ter)
|
rs759267330
|
0.00004
|
NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter)
|
rs779773463
|
0.00004
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004614.5(TK2):c.103C>T (p.Gln35Ter)
|
rs886041321
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs)
|
rs1553241079
|
0.00004
|
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)
|
rs984874083
|
0.00004
|
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)
|
rs587781384
|
0.00004
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)
|
rs121434296
|
0.00004
|
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)
|
rs750323424
|
0.00004
|
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)
|
rs138682654
|
0.00004
|
NM_006017.3(PROM1):c.1301+2T>C
|
rs775957498
|
0.00004
|
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)
|
rs757793925
|
0.00004
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)
|
rs748152539
|
0.00004
|
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)
|
rs370907055
|
0.00004
|
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)
|
rs121908535
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp)
|
rs104893664
|
0.00004
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00004
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)
|
rs527236031
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)
|
rs368053088
|
0.00004
|
NM_016247.4(IMPG2):c.3023-6_3030dup
|
rs754995805
|
0.00004
|
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter)
|
rs769540160
|
0.00004
|
NM_017613.4(DONSON):c.1047-9A>G
|
rs779149681
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018122.5(DARS2):c.536G>A (p.Arg179His)
|
rs121918210
|
0.00004
|
NM_018192.4(P3H2):c.1372C>T (p.Gln458Ter)
|
rs895635914
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
0.00004
|
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)
|
rs121908172
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)
|
rs780540757
|
0.00004
|
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter)
|
rs775126785
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)
|
rs763615602
|
0.00004
|
NM_130810.4(DNAAF4):c.10C>T (p.Gln4Ter)
|
rs762704959
|
0.00004
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_139242.4(MTFMT):c.1A>C (p.Met1Leu)
|
rs769064443
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
|
rs28940269
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)
|
rs111033434
|
0.00004
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)
|
rs200455852
|
0.00004
|
NM_182760.4(SUMF1):c.602+1G>A
|
rs143616931
|
0.00004
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00004
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)
|
rs119450944
|
0.00003
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)
|
rs104893940
|
0.00003
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
|
rs776668666
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)
|
rs143124288
|
0.00003
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)
|
rs1268475945
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
NM_000111.3(SLC26A3):c.571-2A>G
|
rs386833486
|
0.00003
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)
|
rs1057524499
|
0.00003
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)
|
rs121964913
|
0.00003
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)
|
rs267606925
|
0.00003
|
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)
|
rs772019064
|
0.00003
|
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)
|
rs746307353
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
NM_000277.3(PAH):c.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
|
rs386833650
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)
|
rs765347751
|
0.00003
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.4539+2001G>A
|
rs1457937638
|
0.00003
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)
|
rs777902199
|
0.00003
|
NM_000419.5(ITGA2B):c.2602-3C>G
|
rs763330792
|
0.00003
|
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys)
|
rs376993881
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)
|
rs754502950
|
0.00003
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)
|
rs755635209
|
0.00003
|
NM_000487.6(ARSA):c.542dup (p.Leu183fs)
|
rs776748338
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)
|
rs747319628
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)
|
rs200482214
|
0.00003
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)
|
rs397514688
|
0.00003
|
NM_000821.7(GGCX):c.763G>A (p.Val255Met)
|
rs121909683
|
0.00003
|
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)
|
rs751868289
|
0.00003
|
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)
|
rs1053773776
|
0.00003
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs)
|
rs762267064
|
0.00003
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)
|
rs779160677
|
0.00003
|
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
|
rs397514532
|
0.00003
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
|
rs63750622
|
0.00003
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)
|
rs151107837
|
0.00003
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)
|
rs767427194
|
0.00003
|
NM_001277115.2(DNAH11):c.983-1G>T
|
rs777285019
|
0.00003
|
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)
|
rs758395213
|
0.00003
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)
|
rs1318653026
|
0.00003
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter)
|
rs145577757
|
0.00003
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
NM_001369.3(DNAH5):c.6444+1G>A
|
rs781236248
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro)
|
rs367600930
|
0.00003
|
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)
|
rs368631447
|
0.00003
|
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)
|
rs369614706
|
0.00003
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)
|
rs371011047
|
0.00003
|
NM_001377.3(DYNC2H1):c.9353+1G>A
|
rs776407305
|
0.00003
|
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter)
|
rs978512526
|
0.00003
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)
|
rs768620276
|
0.00003
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
NM_001852.4(COL9A2):c.186G>A (p.Pro62=)
|
rs1085307973
|
0.00003
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)
|
rs369083541
|
0.00003
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
NM_002439.5(MSH3):c.2436-1G>A
|
rs200639359
|
0.00003
|
NM_002529.4(NTRK1):c.1354+1G>T
|
rs764771898
|
0.00003
|
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)
|
rs121918049
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)
|
rs113993971
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)
|
rs768737101
|
0.00003
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)
|
rs113994069
|
0.00003
|
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)
|
rs113994064
|
0.00003
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_004004.6(GJB2):c.208C>G (p.Pro70Ala)
|
rs200023879
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)
|
rs886041141
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_005422.4(TECTA):c.6162+1G>A
|
rs1045921265
|
0.00003
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)
|
rs71532864
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)
|
rs151052416
|
0.00003
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_012062.5(DNM1L):c.1588C>T (p.Arg530Ter)
|
rs1439786424
|
0.00003
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)
|
rs397514648
|
0.00003
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter)
|
rs370840009
|
0.00003
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
NM_015340.4(LARS2):c.189G>A (p.Trp63Ter)
|
rs1213550131
|
0.00003
|
NM_015450.3(POT1):c.1071dup (p.Gln358fs)
|
rs750470470
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)
|
rs201213030
|
0.00003
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_018192.4(P3H2):c.1387C>T (p.Gln463Ter)
|
rs1440913446
|
0.00003
|
NM_018451.5(CENPJ):c.2704C>T (p.Arg902Ter)
|
rs374057641
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)
|
rs781631629
|
0.00003
|
NM_022356.4(P3H1):c.2055+18G>A
|
rs137853890
|
0.00003
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter)
|
rs201947516
|
0.00003
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter)
|
rs199806093
|
0.00003
|
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
|
rs200079039
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter)
|
rs747897279
|
0.00003
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)
|
rs140257538
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter)
|
rs377205432
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_176787.5(PIGN):c.1251+1G>A
|
rs1462805697
|
0.00003
|
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter)
|
rs369707059
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)
|
rs121908464
|
0.00003
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)
|
rs199476203
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)
|
rs764268346
|
0.00002
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
NM_000016.6(ACADM):c.984del (p.Met328fs)
|
rs747610156
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
|
rs745624953
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)
|
rs752783461
|
0.00002
|
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)
|
rs761064915
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)
|
rs778035441
|
0.00002
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)
|
rs772801089
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000158.4(GBE1):c.1468del (p.Leu490fs)
|
rs774465102
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)
|
rs746220312
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)
|
rs564979861
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)
|
rs532875477
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
0.00002
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)
|
rs1312967591
|
0.00002
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln)
|
rs751859807
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
NM_000312.4(PROC):c.925G>A (p.Ala309Thr)
|
rs121918146
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00002
|
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)
|
rs121434246
|
0.00002
|
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg)
|
rs748899308
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)
|
rs779426136
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)
|
rs121918727
|
0.00002
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
NM_000360.4(TH):c.1388C>T (p.Thr463Met)
|
rs45471299
|
0.00002
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
0.00002
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000372.5(TYR):c.1366+1G>T
|
rs369610829
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000400.4(ERCC2):c.1666-2A>T
|
rs199658345
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000410.4(HFE):c.546_547del (p.Leu183fs)
|
rs765804978
|
0.00002
|
NM_000410.4(HFE):c.892G>T (p.Glu298Ter)
|
rs749553271
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)
|
rs1375757476
|
0.00002
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)
|
rs1313207845
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000553.6(WRN):c.210-1G>A
|
rs758988621
|
0.00002
|
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
|
rs766733097
|
0.00002
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys)
|
rs760901724
|
0.00002
|
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)
|
rs776356158
|
0.00002
|
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)
|
rs113994028
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)
|
rs746244631
|
0.00002
|
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)
|
rs751161742
|
0.00002
|
NM_001083116.3(PRF1):c.921del (p.His308fs)
|
rs777345151
|
0.00002
|
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs)
|
rs756855585
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
0.00002
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)
|
rs72653705
|
0.00002
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)
|
rs754449549
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001199397.3(NEK1):c.214+1G>A
|
rs1049502301
|
0.00002
|
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
|
rs1450563045
|
0.00002
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
|
rs138156311
|
0.00002
|
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
|
rs771558691
|
0.00002
|
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)
|
rs145583876
|
0.00002
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00002
|
NM_001292063.2(OTOG):c.7417C>T (p.Arg2473Ter)
|
rs866476223
|
0.00002
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln)
|
rs762668060
|
0.00002
|
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)
|
rs104893613
|
0.00002
|
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)
|
rs769873284
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00002
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
0.00002
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)
|
rs759125480
|
0.00002
|
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)
|
rs750126005
|
0.00002
|
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)
|
rs755338872
|
0.00002
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00002
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)
|
rs527536011
|
0.00002
|
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)
|
rs149170427
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_001393500.2(TOMT):c.259+4A>C
|
rs545947177
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)
|
rs753776604
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)
|
rs201217202
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)
|
rs754049402
|
0.00002
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)
|
rs763413730
|
0.00002
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)
|
rs1279906432
|
0.00002
|
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)
|
rs121908681
|
0.00002
|
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)
|
rs121908683
|
0.00002
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)
|
rs1383734078
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
0.00002
|
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)
|
rs200584793
|
0.00002
|
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)
|
rs765333778
|
0.00002
|
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)
|
rs752254977
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
NM_004614.5(TK2):c.441del (p.Tyr148fs)
|
rs768548319
|
0.00002
|
NM_004855.5(PIGB):c.695G>A (p.Arg232His)
|
rs758196959
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005562.3(LAMC2):c.1350C>A (p.Tyr450Ter)
|
rs201308300
|
0.00002
|
NM_005591.4(MRE11):c.659+1G>A
|
rs759130031
|
0.00002
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)
|
rs768604948
|
0.00002
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)
|
rs1335308693
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_006231.4(POLE):c.270del (p.Asp90fs)
|
rs878854854
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006269.2(RP1):c.5962dup (p.Ile1988fs)
|
rs769512989
|
0.00002
|
NM_006302.3(MOGS):c.646del (p.Val216fs)
|
rs777654978
|
0.00002
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)
|
rs982944299
|
0.00002
|
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)
|
rs773360200
|
0.00002
|
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter)
|
rs1035206433
|
0.00002
|
NM_012233.3(RAB3GAP1):c.68G>A (p.Trp23Ter)
|
rs145829300
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
|
rs149753643
|
0.00002
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter)
|
rs746482522
|
0.00002
|
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)
|
rs113994016
|
0.00002
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)
|
rs753018563
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter)
|
rs368033879
|
0.00002
|
NM_016011.5(MECR):c.695G>A (p.Gly232Glu)
|
rs762913101
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016222.4(DDX41):c.1105C>T (p.Arg369Ter)
|
rs747672157
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)
|
rs267606875
|
0.00002
|
NM_016247.4(IMPG2):c.667-1G>A
|
rs1334444660
|
0.00002
|
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)
|
rs780124402
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)
|
rs769266169
|
0.00002
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
NM_018417.6(ADCY10):c.1263C>A (p.Tyr421Ter)
|
rs770888477
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_018668.5(VPS33B):c.1225+5G>C
|
rs398122407
|
0.00002
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter)
|
rs773730492
|
0.00002
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)
|
rs758657734
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
|
rs372066126
|
0.00002
|
NM_023036.6(DNAI2):c.610+1G>A
|
rs758109864
|
0.00002
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
NM_025099.6(CTC1):c.2758+1G>T
|
rs200609323
|
0.00002
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00002
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter)
|
rs752837159
|
0.00002
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_033419.5(PGAP3):c.639C>G (p.Tyr213Ter)
|
rs746891574
|
0.00002
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_138370.3(PKDCC):c.492del (p.Leu165fs)
|
rs1158542233
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
|
rs138527651
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_145207.3(AFG2A):c.1540C>T (p.Arg514Ter)
|
rs1446807404
|
0.00002
|
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln)
|
rs567175477
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser)
|
rs28940568
|
0.00002
|
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)
|
rs374704368
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)
|
rs267598278
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)
|
rs104894676
|
0.00002
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg)
|
rs201863550
|
0.00002
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
|
rs748110745
|
0.00001
|
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
|
rs139686925
|
0.00001
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.599+2T>C
|
rs148260275
|
0.00001
|
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)
|
rs751829413
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000016.6(ACADM):c.849+2T>C
|
rs780737237
|
0.00001
|
NM_000016.6(ACADM):c.850-2A>G
|
rs761317029
|
0.00001
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.770del (p.Asp257fs)
|
rs2071264706
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
NM_000019.4(ACAT1):c.30del (p.Ser10fs)
|
rs1565281236
|
0.00001
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.749del (p.Val250fs)
|
rs1565293957
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.845+1G>C
|
rs766590645
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)
|
rs763542069
|
0.00001
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)
|
rs1257907226
|
0.00001
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.86del (p.Leu29fs)
|
rs764598121
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro)
|
rs372520221
|
0.00001
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)
|
rs104893948
|
0.00001
|
NM_000046.5(ARSB):c.1336+1G>A
|
rs376233975
|
0.00001
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000046.5(ARSB):c.245del (p.Leu82fs)
|
rs750845916
|
0.00001
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)
|
rs118203939
|
0.00001
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)
|
rs764546937
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)
|
rs770167670
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)
|
rs770375565
|
0.00001
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)
|
rs201962738
|
0.00001
|
NM_000048.4(ASL):c.446+2T>C
|
rs1268519003
|
0.00001
|
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)
|
rs769017508
|
0.00001
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
|
rs779440632
|
0.00001
|
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)
|
rs1057516879
|
0.00001
|
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)
|
rs1057521115
|
0.00001
|
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)
|
rs769653717
|
0.00001
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)
|
rs750505963
|
0.00001
|
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)
|
rs774323189
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
0.00001
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)
|
rs1474837260
|
0.00001
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)
|
rs751798708
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2447+1G>A
|
rs1958431105
|
0.00001
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)
|
rs786204643
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
|
rs778163447
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3060+5G>T
|
rs1353373400
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)
|
rs774221179
|
0.00001
|
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)
|
rs1213481140
|
0.00001
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)
|
rs377144951
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
NM_000053.4(ATP7B):c.44del (p.Ser15fs)
|
rs1192728612
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)
|
rs1412593296
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter)
|
rs1176902020
|
0.00001
|
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)
|
rs767052156
|
0.00001
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)
|
rs367983954
|
0.00001
|
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)
|
rs201998231
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)
|
rs1222065184
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
NM_000082.4(ERCC8):c.173+1G>A
|
rs1476095782
|
0.00001
|
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter)
|
rs530679736
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)
|
rs779593707
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.675dup (p.Gly226fs)
|
rs1553688335
|
0.00001
|
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)
|
rs923865420
|
0.00001
|
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)
|
rs1032335328
|
0.00001
|
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
|
rs765027608
|
0.00001
|
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln)
|
rs368529673
|
0.00001
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)
|
rs28941476
|
0.00001
|
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
|
rs104894135
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)
|
rs1302552127
|
0.00001
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
NM_000128.4(F11):c.166T>C (p.Cys56Arg)
|
rs121965069
|
0.00001
|
NM_000128.4(F11):c.595+3A>G
|
rs933333847
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000137.4(FAH):c.315-3C>G
|
rs1171235203
|
0.00001
|
NM_000137.4(FAH):c.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)
|
rs121965078
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
NM_000151.4(G6PC1):c.798del (p.Thr267fs)
|
rs749323139
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)
|
rs1057516816
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)
|
rs749893889
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)
|
rs779864190
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000153.4(GALC):c.195+1G>A
|
rs1009872980
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.328+1G>T
|
rs779701490
|
0.00001
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
0.00001
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
NM_000158.4(GBE1):c.1239del (p.Asp413fs)
|
rs758504480
|
0.00001
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)
|
rs1175447973
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)
|
rs768925619
|
0.00001
|
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)
|
rs1970722328
|
0.00001
|
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)
|
rs745360675
|
0.00001
|
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)
|
rs758646992
|
0.00001
|
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)
|
rs768532620
|
0.00001
|
NM_000159.4(GCDH):c.198del (p.Ile67fs)
|
rs1057517088
|
0.00001
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)
|
rs886043840
|
0.00001
|
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)
|
rs780976048
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)
|
rs1176799813
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)
|
rs794726972
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
0.00001
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter)
|
rs371226354
|
0.00001
|
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)
|
rs201925123
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)
|
rs745646607
|
0.00001
|
NM_000183.3(HADHB):c.740G>A (p.Arg247His)
|
rs121913133
|
0.00001
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)
|
rs777849213
|
0.00001
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000195.5(HPS1):c.1940+2T>C
|
rs972096803
|
0.00001
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)
|
rs119481077
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.1429del (p.Asp477fs)
|
rs781572815
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
|
rs372911015
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)
|
rs80338755
|
0.00001
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
0.00001
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)
|
rs121912524
|
0.00001
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000237.3(LPL):c.397C>T (p.Gln133Ter)
|
rs118204058
|
0.00001
|
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
|
rs118204060
|
0.00001
|
NM_000237.3(LPL):c.829G>A (p.Asp277Asn)
|
rs118204068
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00001
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val)
|
rs121913634
|
0.00001
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.2838del (p.Met946fs)
|
rs782636104
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
NM_000260.4(MYO7A):c.4065del (p.His1355fs)
|
rs111033202
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
|
rs781137026
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)
|
rs1057517194
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)
|
rs369098773
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)
|
rs386833617
|
0.00001
|
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)
|
rs1951458291
|
0.00001
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
|
rs386833621
|
0.00001
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr)
|
rs1456118236
|
0.00001
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)
|
rs749661379
|
0.00001
|
NM_000275.3(OCA2):c.2135del (p.Ile712fs)
|
rs775008954
|
0.00001
|
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)
|
rs768934658
|
0.00001
|
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)
|
rs776814755
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)
|
rs769408559
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)
|
rs199475634
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)
|
rs199475626
|
0.00001
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)
|
rs199475671
|
0.00001
|
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)
|
rs199475617
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.716G>T (p.Gly239Val)
|
rs62507283
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)
|
rs1555204441
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)
|
rs772057239
|
0.00001
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)
|
rs1056238409
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
0.00001
|
NM_000295.5(SERPINA1):c.646+1G>T
|
rs751235320
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)
|
rs796052925
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000310.4(PPT1):c.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)
|
rs121918143
|
0.00001
|
NM_000312.4(PROC):c.811C>T (p.Arg271Trp)
|
rs767112991
|
0.00001
|
NM_000312.4(PROC):c.962C>T (p.Pro321Leu)
|
rs1321566264
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)
|
rs1407920390
|
0.00001
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
|
rs779414078
|
0.00001
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000326.5(RLBP1):c.141+2T>C
|
rs760650165
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
0.00001
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro)
|
rs886039299
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)
|
rs369440533
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)
|
rs886046564
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg)
|
rs755826006
|
0.00001
|
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)
|
rs200849015
|
0.00001
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)
|
rs1316166172
|
0.00001
|
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)
|
rs201853046
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)
|
rs1437822062
|
0.00001
|
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)
|
rs121917762
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
NM_000362.5(TIMP3):c.113C>G (p.Ser38Cys)
|
rs1270675463
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)
|
rs149912348
|
0.00001
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)
|
rs1944765423
|
0.00001
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
NM_000372.5(TYR):c.239G>A (p.Trp80Ter)
|
rs1183890194
|
0.00001
|
NM_000372.5(TYR):c.290G>T (p.Gly97Val)
|
rs1320376090
|
0.00001
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
NM_000374.5(UROD):c.424C>T (p.Arg142Ter)
|
rs780227281
|
0.00001
|
NM_000382.3(ALDH3A2):c.554G>A (p.Gly185Glu)
|
rs72547563
|
0.00001
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
0.00001
|
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)
|
rs763695515
|
0.00001
|
NM_000383.4(AIRE):c.1566+2T>A
|
rs1057516985
|
0.00001
|
NM_000383.4(AIRE):c.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
|
rs179363878
|
0.00001
|
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)
|
rs179363885
|
0.00001
|
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter)
|
rs878853970
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)
|
rs119455953
|
0.00001
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)
|
rs1216139602
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000392.5(ABCC2):c.2260del (p.Ile754fs)
|
rs1564687941
|
0.00001
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.397-1G>A
|
rs398123353
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)
|
rs104893844
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys)
|
rs773267230
|
0.00001
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly)
|
rs398123392
|
0.00001
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
NM_000478.6(ALPL):c.283G>A (p.Val95Met)
|
rs139811782
|
0.00001
|
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)
|
rs1201942473
|
0.00001
|
NM_000478.6(ALPL):c.532T>C (p.Tyr178His)
|
rs1215600806
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)
|
rs398123414
|
0.00001
|
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)
|
rs1313802305
|
0.00001
|
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)
|
rs762284875
|
0.00001
|
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)
|
rs199476345
|
0.00001
|
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)
|
rs74315470
|
0.00001
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)
|
rs199476384
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)
|
rs74315473
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)
|
rs1657743081
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)
|
rs764598023
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)
|
rs1283377907
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)
|
rs747805226
|
0.00001
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)
|
rs775204908
|
0.00001
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)
|
rs869320652
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs)
|
rs1412691915
|
0.00001
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
|
rs148399313
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)
|
rs193922768
|
0.00001
|
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)
|
rs754522209
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs)
|
rs774319202
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)
|
rs893256143
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.376-1G>A
|
rs868137297
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)
|
rs112431538
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000550.3(TYRP1):c.721G>T (p.Glu241Ter)
|
rs1176553821
|
0.00001
|
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)
|
rs371720457
|
0.00001
|
NM_000553.6(WRN):c.3384-1G>A
|
rs776963381
|
0.00001
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)
|
rs1198210848
|
0.00001
|
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
|
rs749738655
|
0.00001
|
NM_000554.6(CRX):c.119G>A (p.Arg40Gln)
|
rs771450991
|
0.00001
|
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)
|
rs61748436
|
0.00001
|
NM_000557.5(GDF5):c.891G>A (p.Trp297Ter)
|
rs1464028021
|
0.00001
|
NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter)
|
rs1329427406
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
|
rs971749992
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_000789.4(ACE):c.59_69del (p.Leu20fs)
|
rs752411292
|
0.00001
|
NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter)
|
rs748892794
|
0.00001
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
NM_001004334.4(GPR179):c.1429C>T (p.Arg477Ter)
|
rs764877172
|
0.00001
|
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter)
|
rs773022324
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)
|
rs138226428
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001013838.3(CARMIL2):c.882del (p.Leu295fs)
|
rs767941878
|
0.00001
|
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
|
rs199476316
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)
|
rs776690106
|
0.00001
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)
|
rs1695348814
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)
|
rs370124822
|
0.00001
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)
|
rs745921592
|
0.00001
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)
|
rs1064796630
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)
|
rs754414354
|
0.00001
|
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)
|
rs777735526
|
0.00001
|
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)
|
rs1280810181
|
0.00001
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)
|
rs906284769
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)
|
rs542063660
|
0.00001
|
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys)
|
rs142110773
|
0.00001
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs)
|
rs767857970
|
0.00001
|
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr)
|
rs397514594
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)
|
rs1182277140
|
0.00001
|
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)
|
rs759426055
|
0.00001
|
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter)
|
rs1418085145
|
0.00001
|
NM_001127453.2(GSDME):c.1183+1G>A
|
rs1554322596
|
0.00001
|
NM_001128126.3(AP4S1):c.294+1G>T
|
rs886041127
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)
|
rs201575829
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)
|
rs1326635278
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter)
|
rs1161335800
|
0.00001
|
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)
|
rs368027306
|
0.00001
|
NM_001159773.2(CANT1):c.836-9G>A
|
rs538543007
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter)
|
rs766614772
|
0.00001
|
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
|
rs587780486
|
0.00001
|
NM_001163435.3(TBCK):c.1108C>T (p.Arg370Ter)
|
rs1452578209
|
0.00001
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)
|
rs1057517802
|
0.00001
|
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)
|
rs72653769
|
0.00001
|
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro)
|
rs67470842
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1734C>T
|
rs374594354
|
0.00001
|
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
|
rs121909388
|
0.00001
|
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter)
|
rs762610288
|
0.00001
|
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)
|
rs1471249688
|
0.00001
|
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)
|
rs200102503
|
0.00001
|
NM_001182.5(ALDH7A1):c.1565+1G>T
|
rs1064793830
|
0.00001
|
NM_001182.5(ALDH7A1):c.246+1G>A
|
rs764588746
|
0.00001
|
NM_001182.5(ALDH7A1):c.312+1G>A
|
rs199497486
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001193315.2(VIPAS39):c.958C>T (p.Arg320Ter)
|
rs747749610
|
0.00001
|
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs)
|
rs1378470761
|
0.00001
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)
|
rs756181906
|
0.00001
|
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)
|
rs28989182
|
0.00001
|
NM_001242957.3(MAK):c.718_719del (p.Gln240fs)
|
rs1039053911
|
0.00001
|
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)
|
rs766764090
|
0.00001
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
NM_001243279.3(ACSF3):c.1613+1G>A
|
rs770400253
|
0.00001
|
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)
|
rs760759040
|
0.00001
|
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)
|
rs1313088429
|
0.00001
|
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)
|
rs749538361
|
0.00001
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
NM_001243279.3(ACSF3):c.866del (p.Val289fs)
|
rs758740850
|
0.00001
|
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)
|
rs189717232
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)
|
rs767220480
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)
|
rs201018751
|
0.00001
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)
|
rs397514608
|
0.00001
|
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg)
|
rs753625117
|
0.00001
|
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
|
rs1196886096
|
0.00001
|
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser)
|
rs761661253
|
0.00001
|
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter)
|
rs1322721879
|
0.00001
|
NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)
|
rs764453448
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)
|
rs771414481
|
0.00001
|
NM_001358530.2(MOCS1):c.1102+2T>C
|
rs1345407391
|
0.00001
|
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
|
rs373306653
|
0.00001
|
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)
|
rs779709646
|
0.00001
|
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)
|
rs770819693
|
0.00001
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)
|
rs121912195
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)
|
rs769218623
|
0.00001
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)
|
rs756564881
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)
|
rs774187452
|
0.00001
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
NM_001363711.2(DUOX2):c.1478del (p.His493fs)
|
rs751410726
|
0.00001
|
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter)
|
rs531536885
|
0.00001
|
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)
|
rs199747285
|
0.00001
|
NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter)
|
rs767342365
|
0.00001
|
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter)
|
rs761810492
|
0.00001
|
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter)
|
rs764896693
|
0.00001
|
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter)
|
rs1654854600
|
0.00001
|
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)
|
rs770283117
|
0.00001
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
0.00001
|
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)
|
rs886039500
|
0.00001
|
NM_001369.3(DNAH5):c.11029-2A>T
|
rs369312501
|
0.00001
|
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)
|
rs760104757
|
0.00001
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.5883-1G>A
|
rs1195745037
|
0.00001
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
|
rs769260126
|
0.00001
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter)
|
rs773948197
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)
|
rs537704873
|
0.00001
|
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)
|
rs397514637
|
0.00001
|
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)
|
rs886039821
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter)
|
rs761071372
|
0.00001
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)
|
rs956247442
|
0.00001
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs)
|
rs766971906
|
0.00001
|
NM_001378609.3(OTOGL):c.5743C>T (p.Arg1915Ter)
|
rs1064796988
|
0.00001
|
NM_001378778.1(MPDZ):c.1897C>T (p.Arg633Ter)
|
rs200955619
|
0.00001
|
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)
|
rs747068627
|
0.00001
|
NM_001379270.1(CNGA1):c.1258C>T (p.Arg420Ter)
|
rs369717052
|
0.00001
|
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)
|
rs753824908
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter)
|
rs931911802
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
NM_001482.3(GATM):c.778C>T (p.Arg260Ter)
|
rs775933965
|
0.00001
|
NM_001558.4(IL10RA):c.537G>A (p.Thr179=)
|
rs1419560997
|
0.00001
|
NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter)
|
rs200651043
|
0.00001
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)
|
rs773348232
|
0.00001
|
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)
|
rs754043007
|
0.00001
|
NM_001673.5(ASNS):c.187C>T (p.Arg63Ter)
|
rs373645939
|
0.00001
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)
|
rs1877827904
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter)
|
rs745532481
|
0.00001
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
NM_001875.5(CPS1):c.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)
|
rs773153659
|
0.00001
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)
|
rs1211665230
|
0.00001
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)
|
rs1401839892
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)
|
rs398123662
|
0.00001
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)
|
rs1021457619
|
0.00001
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
|
rs758432471
|
0.00001
|
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)
|
rs752746786
|
0.00001
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
rs141698985
|
0.00001
|
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)
|
rs755438542
|
0.00001
|
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)
|
rs1055839662
|
0.00001
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)
|
rs1377725272
|
0.00001
|
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)
|
rs387906644
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys)
|
rs376152274
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)
|
rs757168691
|
0.00001
|
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)
|
rs978284448
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)
|
rs139170496
|
0.00001
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)
|
rs374489979
|
0.00001
|
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)
|
rs763122825
|
0.00001
|
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)
|
rs759637817
|
0.00001
|
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)
|
rs756981419
|
0.00001
|
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)
|
rs747711259
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002693.3(POLG):c.1433+2T>C
|
rs920850257
|
0.00001
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)
|
rs56047213
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter)
|
rs180760483
|
0.00001
|
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)
|
rs1431830142
|
0.00001
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00001
|
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)
|
rs781330134
|
0.00001
|
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)
|
rs72552733
|
0.00001
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)
|
rs386134222
|
0.00001
|
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)
|
rs749282641
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)
|
rs747821417
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)
|
rs756650860
|
0.00001
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)
|
rs386134208
|
0.00001
|
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)
|
rs931801909
|
0.00001
|
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)
|
rs748555510
|
0.00001
|
NM_003119.4(SPG7):c.861+1G>C
|
rs1412575396
|
0.00001
|
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)
|
rs1187982748
|
0.00001
|
NM_003235.5(TG):c.85C>T (p.Gln29Ter)
|
rs1554648860
|
0.00001
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)
|
rs587784330
|
0.00001
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)
|
rs535486098
|
0.00001
|
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)
|
rs753874848
|
0.00001
|
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)
|
rs1043378899
|
0.00001
|
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)
|
rs368008077
|
0.00001
|
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)
|
rs121908685
|
0.00001
|
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)
|
rs753338285
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)
|
rs545593935
|
0.00001
|
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)
|
rs113994050
|
0.00001
|
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)
|
rs113994053
|
0.00001
|
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)
|
rs773357652
|
0.00001
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)
|
rs752263234
|
0.00001
|
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)
|
rs1355745932
|
0.00001
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
NM_004004.6(GJB2):c.104T>G (p.Ile35Ser)
|
rs756467247
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004035.7(ACOX1):c.538+1G>A
|
rs1466419887
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)
|
rs980876322
|
0.00001
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)
|
rs772652517
|
0.00001
|
NM_004211.5(SLC6A5):c.2070+1G>A
|
rs770660705
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter)
|
rs768458485
|
0.00001
|
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter)
|
rs753549113
|
0.00001
|
NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)
|
rs769666581
|
0.00001
|
NM_004562.3(PRKN):c.1A>G (p.Met1Val)
|
rs772786691
|
0.00001
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)
|
rs138439950
|
0.00001
|
NM_004614.5(TK2):c.191C>T (p.Thr64Met)
|
rs281865487
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)
|
rs766700803
|
0.00001
|
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs)
|
rs754121759
|
0.00001
|
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)
|
rs776344968
|
0.00001
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter)
|
rs764424917
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)
|
rs137852639
|
0.00001
|
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter)
|
rs745338204
|
0.00001
|
NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter)
|
rs898553156
|
0.00001
|
NM_005559.4(LAMA1):c.1034del (p.Gln345fs)
|
rs1373970320
|
0.00001
|
NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter)
|
rs781458974
|
0.00001
|
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)
|
rs780001540
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)
|
rs143550601
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)
|
rs1783602877
|
0.00001
|
NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe)
|
rs387907295
|
0.00001
|
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)
|
rs185829251
|
0.00001
|
NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs)
|
rs1794611030
|
0.00001
|
NM_005732.4(RAD50):c.756+2T>C
|
rs764122619
|
0.00001
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)
|
rs748984540
|
0.00001
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)
|
rs747681609
|
0.00001
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
NM_005993.5(TBCD):c.337C>T (p.Arg113Ter)
|
rs750717767
|
0.00001
|
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)
|
rs773790897
|
0.00001
|
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)
|
rs781575919
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
NM_006005.3(WFS1):c.2416G>C (p.Ala806Pro)
|
rs762075088
|
0.00001
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
NM_006017.3(PROM1):c.2130+2del
|
rs768303070
|
0.00001
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter)
|
rs199566483
|
0.00001
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)
|
rs318240762
|
0.00001
|
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)
|
rs762426409
|
0.00001
|
NM_006204.4(PDE6C):c.939+5G>A
|
rs374805348
|
0.00001
|
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)
|
rs754659608
|
0.00001
|
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs)
|
rs1060500792
|
0.00001
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs)
|
rs765645032
|
0.00001
|
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter)
|
rs1167794021
|
0.00001
|
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter)
|
rs1470483579
|
0.00001
|
NM_006231.4(POLE):c.6418del (p.Glu2140fs)
|
rs1064794703
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006343.3(MERTK):c.1787-2A>T
|
rs978833430
|
0.00001
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter)
|
rs1924657431
|
0.00001
|
NM_006767.4(LZTR1):c.1729C>T (p.Gln577Ter)
|
rs1390034681
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)
|
rs781431741
|
0.00001
|
NM_006767.4(LZTR1):c.671dup (p.Ser227fs)
|
rs1351226319
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006767.4(LZTR1):c.955C>T (p.Gln319Ter)
|
rs1924617179
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)
|
rs1368779496
|
0.00001
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00001
|
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)
|
rs750874617
|
0.00001
|
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)
|
rs755978559
|
0.00001
|
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter)
|
rs1243282597
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)
|
rs747905422
|
0.00001
|
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
|
rs201692212
|
0.00001
|
NM_007289.4(MME):c.877C>T (p.Arg293Ter)
|
rs764060752
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
NM_012120.3(CD2AP):c.764dup (p.Ser256fs)
|
rs776297606
|
0.00001
|
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)
|
rs759043861
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_013328.4(PYCR2):c.319-1G>C
|
rs1450223894
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)
|
rs755575416
|
0.00001
|
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)
|
rs763004980
|
0.00001
|
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)
|
rs777282696
|
0.00001
|
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)
|
rs377022708
|
0.00001
|
NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter)
|
rs778786636
|
0.00001
|
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)
|
rs1281345070
|
0.00001
|
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)
|
rs1391540245
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)
|
rs955766374
|
0.00001
|
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)
|
rs786205493
|
0.00001
|
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)
|
rs368778231
|
0.00001
|
NM_014297.5(ETHE1):c.505+1G>A
|
rs935855792
|
0.00001
|
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)
|
rs1264794214
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)
|
rs387907377
|
0.00001
|
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)
|
rs886038200
|
0.00001
|
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter)
|
rs774799042
|
0.00001
|
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs)
|
rs765874018
|
0.00001
|
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)
|
rs751970061
|
0.00001
|
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)
|
rs376075583
|
0.00001
|
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)
|
rs774318019
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter)
|
rs1179121574
|
0.00001
|
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter)
|
rs1230382008
|
0.00001
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015512.5(DNAH1):c.7676del (p.Val2559fs)
|
rs765417610
|
0.00001
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)
|
rs387907012
|
0.00001
|
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)
|
rs755311638
|
0.00001
|
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)
|
rs746166328
|
0.00001
|
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
|
rs753790346
|
0.00001
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
NM_016239.4(MYO15A):c.6956+1G>A
|
rs1465311328
|
0.00001
|
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter)
|
rs1169954783
|
0.00001
|
NM_016239.4(MYO15A):c.7396-1G>A
|
rs760461823
|
0.00001
|
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)
|
rs1221876133
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter)
|
rs1276845142
|
0.00001
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)
|
rs779387647
|
0.00001
|
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg)
|
rs749110767
|
0.00001
|
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)
|
rs782331682
|
0.00001
|
NM_017570.5(OPLAH):c.587+1G>A
|
rs1272869557
|
0.00001
|
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter)
|
rs1221890051
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)
|
rs768831597
|
0.00001
|
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)
|
rs772345347
|
0.00001
|
NM_018122.5(DARS2):c.159_160del (p.Cys54fs)
|
rs773706813
|
0.00001
|
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)
|
rs550032922
|
0.00001
|
NM_018127.7(ELAC2):c.245+2T>A
|
rs748684065
|
0.00001
|
NM_018129.4(PNPO):c.284G>A (p.Arg95His)
|
rs552833222
|
0.00001
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_019032.6(ADAMTSL4):c.1480C>T (p.Arg494Ter)
|
rs1471582038
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
|
rs1372794201
|
0.00001
|
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)
|
rs367625370
|
0.00001
|
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)
|
rs398124352
|
0.00001
|
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
|
rs1713700813
|
0.00001
|
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
|
rs1163620394
|
0.00001
|
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)
|
rs748201122
|
0.00001
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)
|
rs863224183
|
0.00001
|
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)
|
rs577932201
|
0.00001
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)
|
rs745715484
|
0.00001
|
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)
|
rs760063405
|
0.00001
|
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)
|
rs752156505
|
0.00001
|
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)
|
rs756927098
|
0.00001
|
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)
|
rs960468382
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_020461.4(TUBGCP6):c.1519C>T (p.Gln507Ter)
|
rs1260456579
|
0.00001
|
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter)
|
rs724159975
|
0.00001
|
NM_020461.4(TUBGCP6):c.2221_2222del (p.Arg741fs)
|
rs951221380
|
0.00001
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
NM_020533.3(MCOLN1):c.405+1G>A
|
rs148748724
|
0.00001
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)
|
rs769164245
|
0.00001
|
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter)
|
rs1344615174
|
0.00001
|
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter)
|
rs370072439
|
0.00001
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)
|
rs372751467
|
0.00001
|
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)
|
rs961245497
|
0.00001
|
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)
|
rs866435487
|
0.00001
|
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
|
rs780889226
|
0.00001
|
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)
|
rs863225064
|
0.00001
|
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)
|
rs767638289
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_021008.4(DEAF1):c.1450C>T (p.Arg484Ter)
|
rs949860707
|
0.00001
|
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter)
|
rs1860672898
|
0.00001
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His)
|
rs745480657
|
0.00001
|
NM_021800.3(DNAJC12):c.85del (p.Gln29fs)
|
rs770562664
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter)
|
rs863223919
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)
|
rs119485088
|
0.00001
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
|
rs751393852
|
0.00001
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
0.00001
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)
|
rs752575140
|
0.00001
|
NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter)
|
rs387906916
|
0.00001
|
NM_022773.4(LMF1):c.359C>G (p.Ser120Ter)
|
rs768161861
|
0.00001
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)
|
rs375110174
|
0.00001
|
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)
|
rs368690277
|
0.00001
|
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
|
rs757043077
|
0.00001
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
NM_024422.6(DSC2):c.34_35del (p.Gly12fs)
|
rs1395367133
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024589.3(ROGDI):c.117+1G>A
|
rs570952151
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)
|
rs1183062277
|
0.00001
|
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
|
rs779134983
|
0.00001
|
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
|
rs754596743
|
0.00001
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)
|
rs118204020
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)
|
rs1405032433
|
0.00001
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)
|
rs1559252723
|
0.00001
|
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)
|
rs763220502
|
0.00001
|
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)
|
rs1015798796
|
0.00001
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)
|
rs765849229
|
0.00001
|
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)
|
rs900228710
|
0.00001
|
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)
|
rs1303930496
|
0.00001
|
NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter)
|
rs973342972
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_032409.3(PINK1):c.938C>T (p.Thr313Met)
|
rs74315359
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)
|
rs756394857
|
0.00001
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter)
|
rs1442366836
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs)
|
rs750895925
|
0.00001
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser)
|
rs767619131
|
0.00001
|
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)
|
rs587777096
|
0.00001
|
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter)
|
rs751323441
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)
|
rs1011767398
|
0.00001
|
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter)
|
rs1387164225
|
0.00001
|
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)
|
rs1206475365
|
0.00001
|
NM_130466.4(UBE3B):c.1852C>T (p.Arg618Ter)
|
rs746058354
|
0.00001
|
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter)
|
rs748440695
|
0.00001
|
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)
|
rs397515621
|
0.00001
|
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)
|
rs727503062
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_138691.3(TMC1):c.582G>A (p.Trp194Ter)
|
rs1172357346
|
0.00001
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys)
|
rs1354592503
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter)
|
rs879255431
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter)
|
rs754135389
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)
|
rs587777293
|
0.00001
|
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter)
|
rs760123810
|
0.00001
|
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter)
|
rs766629924
|
0.00001
|
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter)
|
rs762653147
|
0.00001
|
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter)
|
rs773260717
|
0.00001
|
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)
|
rs758188096
|
0.00001
|
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)
|
rs397509419
|
0.00001
|
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)
|
rs753873681
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)
|
rs1225487694
|
0.00001
|
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)
|
rs778571042
|
0.00001
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)
|
rs745871149
|
0.00001
|
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)
|
rs28940313
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)
|
rs201915239
|
0.00001
|
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter)
|
rs148275050
|
0.00001
|
NM_152906.7(TANGO2):c.711-3C>G
|
rs367912276
|
0.00001
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
0.00001
|
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)
|
rs746509804
|
0.00001
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172351.3(CD46):c.287-2A>G
|
rs759813089
|
0.00001
|
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)
|
rs397517925
|
0.00001
|
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)
|
rs764603059
|
0.00001
|
NM_176787.5(PIGN):c.1434+5G>A
|
rs369486176
|
0.00001
|
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)
|
rs768412580
|
0.00001
|
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)
|
rs889417696
|
0.00001
|
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)
|
rs150203483
|
0.00001
|
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)
|
rs548065551
|
0.00001
|
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)
|
rs761917087
|
0.00001
|
NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter)
|
rs748014296
|
0.00001
|
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)
|
rs267607017
|
0.00001
|
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
|
rs375839864
|
0.00001
|
NM_181426.2(CCDC39):c.1665+1G>A
|
rs753580394
|
0.00001
|
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)
|
rs1228590199
|
0.00001
|
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)
|
rs137852846
|
0.00001
|
NM_182943.3(PLOD2):c.1483C>T (p.Arg495Ter)
|
rs1436930576
|
0.00001
|
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)
|
rs774916970
|
0.00001
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)
|
rs1057516795
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg)
|
rs137852211
|
0.00001
|
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)
|
rs772038362
|
0.00001
|
NM_199242.3(UNC13D):c.1055+1G>A
|
rs754205110
|
0.00001
|
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)
|
rs747169857
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201253.3(CRB1):c.653-1G>T
|
rs760287363
|
0.00001
|
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)
|
rs146278035
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.11389+3A>T
|
rs753886165
|
0.00001
|
NM_206933.4(USH2A):c.11473del (p.His3825fs)
|
rs774677256
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter)
|
rs1656936749
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg)
|
rs1064793287
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
NM_206933.4(USH2A):c.8845+2T>G
|
rs1441350225
|
0.00001
|
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)
|
rs111033263
|
0.00001
|
NM_207037.2(TCF12):c.1267C>T (p.Arg423Ter)
|
rs753261578
|
0.00001
|
NM_213607.3(CCDC103):c.144-1G>A
|
rs747091524
|
0.00001
|
NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter)
|
rs397509388
|
0.00001
|
NC_000021.9:g.(?_34787801)_(34799462_?)del
|
|
|
NC_000021.9:g.(?_43060421)_(43062415_?)dup
|
|
|
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
|
rs875989865
|
|
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)
|
rs1323513432
|
|
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
|
|
|
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
|
rs875989875
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.165del (p.Phe55fs)
|
rs1319192670
|
|
NM_000016.6(ACADM):c.1A>G (p.Met1Val)
|
rs1057516778
|
|
NM_000016.6(ACADM):c.217-1G>A
|
rs1570861829
|
|
NM_000016.6(ACADM):c.217-2A>G
|
rs1647169738
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)
|
rs2100332723
|
|
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)
|
rs767649048
|
|
NM_000016.6(ACADM):c.30+1G>C
|
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.383dup (p.Leu128fs)
|
rs1647189225
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)
|
rs1553121887
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
NM_000016.6(ACADM):c.437del (p.Leu146fs)
|
rs749529577
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)
|
rs1570876467
|
|
NM_000016.6(ACADM):c.47del (p.Ser16fs)
|
rs1325949559
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)
|
rs1647480996
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
|
|
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)
|
rs1324329442
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)
|
rs1570851702
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
NM_000016.6(ACADM):c.709-2A>C
|
rs1553125211
|
|
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)
|
rs2100417619
|
|
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)
|
rs875989872
|
|
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)
|
rs780504551
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000016.6(ACADM):c.926dup (p.Gly310fs)
|
rs875989864
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)
|
rs1057517103
|
|
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)
|
rs1057516485
|
|
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)
|
rs786204631
|
|
NM_000016.6(ACADM):c.982A>G (p.Met328Val)
|
rs1648825926
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)
|
rs541587321
|
|
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)
|
rs1057516733
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)
|
rs752677472
|
|
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)
|
rs786204691
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.3(ACADVL):c.625del
|
rs2071251239
|
|
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)
|
rs1567565643
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)
|
rs1329022268
|
|
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)
|
rs1555528508
|
|
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)
|
rs2071296591
|
|
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)
|
rs1402646371
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)
|
rs1567566228
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)
|
rs1057517281
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
|
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)
|
rs1281137823
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)
|
rs2071316298
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)
|
rs2142984544
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
|
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)
|
rs1555528745
|
|
NM_000018.4(ACADVL):c.128del (p.Gly43fs)
|
rs2071123075
|
|
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
|
rs1597534677
|
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
|
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)
|
rs2071356603
|
|
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)
|
rs1567560601
|
|
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)
|
rs762619071
|
|
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)
|
rs1214222702
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1605+2T>C
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
|
|
|
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)
|
rs1131691553
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)
|
rs2071393587
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)
|
rs2142964399
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.277+2T>G
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)
|
rs2071168842
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
|
rs1057516979
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.388del (p.Glu130fs)
|
rs2142969054
|
|
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)
|
rs2071185757
|
|
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)
|
rs2071185652
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)
|
rs371910495
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)
|
rs1258134795
|
|
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)
|
rs1597525536
|
|
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
|
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)
|
rs1489679976
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)
|
rs398123091
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)
|
rs2071266269
|
|
NM_000018.4(ACADVL):c.809del (p.Pro270fs)
|
rs1567564499
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)
|
rs201676770
|
|
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000020.3(ACVRL1):c.889del (p.His297fs)
|
rs1060503245
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)
|
rs1419063255
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.383_404dup (p.Leu137fs)
|
rs1555844616
|
|
NM_000022.4(ADA):c.385G>A (p.Val129Met)
|
rs121908731
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs)
|
rs757796081
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000027.4(AGA):c.192del (p.Cys64fs)
|
rs1553994830
|
|
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
|
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
|
|
NM_000027.4(AGA):c.3G>C (p.Met1Ile)
|
rs937973897
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
|
rs370078048
|
|
NM_000027.4(AGA):c.940+1G>A
|
rs386833437
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.942+1G>T
|
rs180177297
|
|
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)
|
rs387906472
|
|
NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys)
|
rs1557248142
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
|
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)
|
rs1057517133
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs)
|
rs2149782311
|
|
NM_000038.6(APC):c.1240del (p.Arg414fs)
|
rs1554080082
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.136-1G>A
|
rs1554069481
|
|
NM_000038.6(APC):c.1409-1G>A
|
rs863225313
|
|
NM_000038.6(APC):c.1409-1G>C
|
rs863225313
|
|
NM_000038.6(APC):c.1409-1G>T
|
rs863225313
|
|
NM_000038.6(APC):c.1409-2A>C
|
rs1064794163
|
|
NM_000038.6(APC):c.1409-2_1409del
|
rs1554081631
|
|
NM_000038.6(APC):c.1530dup (p.Gly511fs)
|
rs1554081749
|
|
NM_000038.6(APC):c.1548G>A (p.Lys516=)
|
rs879254090
|
|
NM_000038.6(APC):c.1626+3A>G
|
rs1060503372
|
|
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)
|
rs1554082135
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
NM_000038.6(APC):c.203del (p.Leu68fs)
|
rs1756331894
|
|
NM_000038.6(APC):c.2054G>A (p.Trp685Ter)
|
rs2149859555
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.221-1G>A
|
rs863225327
|
|
NM_000038.6(APC):c.221-1G>C
|
rs863225327
|
|
NM_000038.6(APC):c.221-2A>G
|
rs786201291
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser)
|
rs1114167603
|
|
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter)
|
rs2149885099
|
|
NM_000038.6(APC):c.3224del (p.Tyr1075fs)
|
rs1765368708
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3642del (p.Ser1214fs)
|
rs2149896180
|
|
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs)
|
rs1554085246
|
|
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter)
|
rs1460397656
|
|
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)
|
rs863225345
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs)
|
rs1554085533
|
|
NM_000038.6(APC):c.4145del (p.Leu1382fs)
|
rs2149907596
|
|
NM_000038.6(APC):c.4174del (p.Ser1392fs)
|
rs1765620003
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.423-3_423-2del
|
rs863225354
|
|
NM_000038.6(APC):c.423-9A>G
|
rs1554071494
|
|
NM_000038.6(APC):c.476dup (p.Tyr159Ter)
|
rs878853451
|
|
NM_000038.6(APC):c.531+1G>A
|
rs876659973
|
|
NM_000038.6(APC):c.531+1G>C
|
rs876659973
|
|
NM_000038.6(APC):c.532-1G>A
|
rs1554072547
|
|
NM_000038.6(APC):c.532-2A>T
|
rs752152148
|
|
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)
|
rs1554086854
|
|
NM_000038.6(APC):c.5936del (p.Asn1979fs)
|
rs863225368
|
|
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs)
|
rs1057517544
|
|
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)
|
rs1057517568
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
NM_000038.6(APC):c.645+1G>T
|
rs863225370
|
|
NM_000038.6(APC):c.7135dup (p.Thr2379fs)
|
|
|
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)
|
rs1554088383
|
|
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)
|
rs1554088391
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)
|
rs1580685528
|
|
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)
|
rs1561618361
|
|
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs)
|
rs1766600757
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000039.3(APOA1):c.532_533dup (p.His179fs)
|
rs781350389
|
|
NM_000043.6(FAS):c.651+1G>A
|
rs1564696849
|
|
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)
|
rs778993919
|
|
NM_000045.4(ARG1):c.129del (p.Glu44fs)
|
rs1169538148
|
|
NM_000045.4(ARG1):c.272dup (p.Arg92fs)
|
rs796051923
|
|
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)
|
rs1554249332
|
|
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)
|
rs28941474
|
|
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
|
|
|
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)
|
rs2114539596
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
|
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
|
|
|
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)
|
rs1028653411
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
NM_000046.5(ARSB):c.113del (p.Gly38fs)
|
rs1349838988
|
|
NM_000046.5(ARSB):c.1142+2T>A
|
rs781510986
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)
|
rs766772376
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
|
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)
|
rs1554032216
|
|
NM_000046.5(ARSB):c.173del (p.Asn58fs)
|
rs1180759765
|
|
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
|
rs1554032134
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)
|
rs1554032094
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)
|
rs1554087423
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000048.4(ASL):c.111_133del (p.Asp38fs)
|
rs1554326267
|
|
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)
|
rs1554328459
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
|
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)
|
rs932494060
|
|
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)
|
rs869312985
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
|
NM_000048.4(ASL):c.614C>T (p.Ala205Val)
|
rs796051925
|
|
NM_000048.4(ASL):c.631_647del (p.Val211fs)
|
rs1554327181
|
|
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)
|
rs1554327573
|
|
NM_000048.4(ASL):c.973_976del (p.Leu325fs)
|
rs763407938
|
|
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
|
|
|
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)
|
rs2150741763
|
|
NM_000049.4(ASPA):c.147dup (p.Pro50fs)
|
rs1597422432
|
|
NM_000049.4(ASPA):c.244_245del (p.Met82fs)
|
rs786204620
|
|
NM_000049.4(ASPA):c.244dup (p.Met82fs)
|
rs756198538
|
|
NM_000049.4(ASPA):c.245del (p.Met82fs)
|
rs1057516962
|
|
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
|
|
|
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)
|
rs1289890879
|
|
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)
|
rs1446467099
|
|
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)
|
rs104894548
|
|
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)
|
|
|
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
|
rs937670540
|
|
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)
|
rs786204572
|
|
NM_000049.4(ASPA):c.548C>A (p.Pro183His)
|
rs1555539857
|
|
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)
|
rs1482032907
|
|
NM_000049.4(ASPA):c.609del (p.Asp204fs)
|
rs1597439149
|
|
NM_000049.4(ASPA):c.827_828del (p.Cys276fs)
|
rs1057517085
|
|
NM_000049.4(ASPA):c.831del (p.Val278fs)
|
rs1555541304
|
|
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)
|
rs766720790
|
|
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1236-1G>A
|
rs1408719214
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1754dup (p.Leu585fs)
|
rs1555072012
|
|
NM_000051.4(ATM):c.1914dup (p.Asp639fs)
|
rs2080292910
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2125del (p.Ile709fs)
|
rs1057517248
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2250+1G>A
|
rs1565395193
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)
|
rs1057516944
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)
|
rs1057516301
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)
|
rs2082209411
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.4007del (p.Phe1336fs)
|
rs1555095841
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5172dup (p.Asp1725fs)
|
rs2135893222
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5351del (p.Asn1784fs)
|
rs1057517101
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)
|
rs1057516905
|
|
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)
|
rs1555119011
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
NM_000051.4(ATM):c.6976-2A>C
|
rs587782403
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)
|
rs587781994
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)
|
rs1316032472
|
|
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)
|
rs778490238
|
|
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)
|
rs2140071850
|
|
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)
|
rs1593787789
|
|
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
|
|
|
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)
|
rs1057517444
|
|
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)
|
rs1057516305
|
|
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)
|
rs1060499593
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)
|
rs772000260
|
|
NM_000053.4(ATP7B):c.1543+1G>A
|
|
|
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)
|
rs996419100
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)
|
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1963del (p.Leu655fs)
|
rs2139612433
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)
|
rs1555291870
|
|
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)
|
rs1555291848
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
|
|
|
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs)
|
rs1555291784
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)
|
rs1057516380
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
|
rs1958499462
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)
|
rs1555291195
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)
|
rs121907997
|
|
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
|
rs770020484
|
|
NM_000053.4(ATP7B):c.2447+1G>T
|
rs1958431105
|
|
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)
|
rs777362050
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)
|
rs1555288385
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)
|
rs747584649
|
|
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)
|
rs747584649
|
|
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)
|
rs1555287300
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)
|
rs949421614
|
|
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)
|
rs1555286628
|
|
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
|
rs1957518268
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)
|
rs778543794
|
|
NM_000053.4(ATP7B):c.3168del (p.Leu1057fs)
|
rs2138950870
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
|
rs1957506216
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)
|
rs1555285891
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
|
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)
|
rs781266802
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)
|
|
|
NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs)
|
rs755012990
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)
|
rs1340942427
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3904-2del
|
rs1957032734
|
|
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
|
rs778732681
|
|
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)
|
rs2138560807
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.4124+1G>A
|
|
|
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)
|
rs2138407151
|
|
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
|
|
|
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)
|
rs1555282191
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.528del (p.Ser177fs)
|
rs2140098691
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
|
rs1952004098
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
|
|
|
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs)
|
rs1951995448
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)
|
rs1566232310
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.1362del (p.Lys454fs)
|
rs80359282
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter)
|
rs80358466
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
|
rs2072450488
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
rs80358523
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs)
|
rs2072462600
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)
|
rs80359356
|
|
NM_000059.4(BRCA2):c.2870del (p.Asn957fs)
|
rs397507645
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter)
|
rs1566231167
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter)
|
rs886038131
|
|
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)
|
rs375064902
|
|
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs)
|
rs786202700
|
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)
|
rs886038145
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs)
|
rs397507868
|
|
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)
|
rs80359624
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
rs886040685
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter)
|
rs886040687
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
NM_000059.4(BRCA2):c.7219_7220del (p.Val2407fs)
|
rs2137556981
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7976+1G>A
|
rs81002873
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
NM_000059.4(BRCA2):c.8924del (p.Val2975fs)
|
rs397508020
|
|
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)
|
rs886040801
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)
|
rs398122610
|
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)
|
rs80359187
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000059.4(BRCA2):c.9649-1G>T
|
rs1555289898
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter)
|
rs755108467
|
|
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs)
|
rs1554996833
|
|
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg)
|
rs281875170
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000065.5(C6):c.2335_2336del (p.Gln779fs)
|
rs771792933
|
|
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs)
|
rs2102144416
|
|
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)
|
rs1572048220
|
|
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)
|
rs1287079817
|
|
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)
|
rs1572038993
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
|
rs774048414
|
|
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)
|
rs2054179951
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)
|
rs1595847257
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.402del (p.Ile135fs)
|
rs746935735
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
NM_000071.3(CBS):c.1221del (p.Trp408fs)
|
rs1361324844
|
|
NM_000071.3(CBS):c.1358+1G>A
|
rs786204679
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
NM_000071.3(CBS):c.153_165del (p.Arg51fs)
|
rs1555876784
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)
|
rs1555869958
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.209+1G>C
|
rs751464024
|
|
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)
|
rs2146413970
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)
|
rs770095972
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
|
NM_000071.3(CBS):c.402del (p.Thr135fs)
|
rs1057517083
|
|
NM_000071.3(CBS):c.429C>G (p.Ile143Met)
|
rs370167302
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.481del (p.Arg161fs)
|
rs2146387904
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
|
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
|
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
|
|
|
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
|
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000071.3(CBS):c.98del (p.Pro33fs)
|
rs2146428203
|
|
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)
|
rs777919630
|
|
NM_000073.3(CD3G):c.213del (p.Lys71fs)
|
rs570768621
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)
|
rs1969856640
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)
|
rs1429181185
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
|
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)
|
rs1597612665
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)
|
rs56377005
|
|
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)
|
rs754616030
|
|
NM_000081.4(LYST):c.192+1G>A
|
|
|
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
|
|
|
NM_000081.4(LYST):c.3433del (p.His1145fs)
|
|
|
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
|
|
|
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
|
|
|
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
|
|
|
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
|
|
|
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
|
|
|
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
|
|
|
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
|
|
|
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
|
|
|
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
|
|
|
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
|
|
|
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
|
|
|
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
|
|
|
NM_000082.3(ERCC8):c.78_79del
|
rs2112532350
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
NM_000082.4(ERCC8):c.350C>A (p.Ser117Ter)
|
rs545036754
|
|
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del)
|
rs2112491212
|
|
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)
|
rs1180658535
|
|
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer)
|
rs2023146719
|
|
NM_000088.4(COL1A1):c.1461+2T>G
|
rs1907417140
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs)
|
rs1260429820
|
|
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val)
|
rs1131692326
|
|
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)
|
rs72667028
|
|
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)
|
rs72645340
|
|
NM_000088.4(COL1A1):c.958-1G>A
|
rs72645352
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
|
rs587779692
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp)
|
rs587779691
|
|
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)
|
rs587779606
|
|
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu)
|
rs1576468562
|
|
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp)
|
rs1576471840
|
|
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)
|
rs794728060
|
|
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)
|
rs587779533
|
|
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)
|
rs1553507614
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)
|
rs2125961933
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)
|
rs1559878862
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.1933del (p.Arg645fs)
|
rs1559890140
|
|
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)
|
rs758444182
|
|
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter)
|
rs1164505506
|
|
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])
|
rs1306992119
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
|
|
|
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)
|
|
|
NM_000091.5(COL4A3):c.3882+5G>A
|
rs1553764454
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser)
|
rs764981982
|
|
NM_000092.5(COL4A4):c.193-2A>C
|
rs2125038490
|
|
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg)
|
rs1553640846
|
|
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs)
|
rs1559677146
|
|
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter)
|
rs2150219679
|
|
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)
|
rs754706338
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)
|
rs1408907127
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.71+1del
|
rs2125387640
|
|
NM_000092.5(COL4A4):c.914_930+29del
|
rs1553683757
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000094.4(COL7A1):c.3551-3T>G
|
rs773263825
|
|
NM_000094.4(COL7A1):c.448G>A (p.Gly150Arg)
|
rs757715378
|
|
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)
|
rs1002845719
|
|
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs)
|
rs1575425011
|
|
NM_000094.4(COL7A1):c.846G>A (p.Glu282=)
|
rs770216458
|
|
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del)
|
rs1064794294
|
|
NM_000095.3(COMP):c.1112G>A (p.Cys371Tyr)
|
rs1057521130
|
|
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)
|
rs1601054715
|
|
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg)
|
rs1601053997
|
|
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp)
|
rs1555791425
|
|
NM_000095.3(COMP):c.1533C>G (p.Asp511Glu)
|
rs1064794293
|
|
NM_000095.3(COMP):c.1569C>A (p.Asn523Lys)
|
rs137852654
|
|
NM_000095.3(COMP):c.1760A>G (p.His587Arg)
|
rs312262901
|
|
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)
|
rs28936368
|
|
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)
|
rs312262904
|
|
NM_000097.7(CPOX):c.939dup (p.Lys314fs)
|
rs1553696121
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
NM_000101.4(CYBA):c.166del (p.Arg56fs)
|
rs1352931329
|
|
NM_000101.4(CYBA):c.295_301del (p.Val99fs)
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
|
rs1458440922
|
|
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs)
|
rs769461019
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)
|
rs1554400713
|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
NM_000111.3(SLC26A3):c.1312-1G>T
|
rs386833449
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)
|
rs104893920
|
|
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)
|
rs1554095374
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)
|
rs770925947
|
|
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs)
|
rs886047037
|
|
NM_000124.4(ERCC6):c.207dup (p.Pro70fs)
|
rs1554794641
|
|
NM_000124.4(ERCC6):c.2709+1G>T
|
rs1850818899
|
|
NM_000124.4(ERCC6):c.544-1G>A
|
rs901360414
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000128.4(F11):c.1204C>T (p.Gln402Ter)
|
rs1741002305
|
|
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)
|
rs757953549
|
|
NM_000130.5(F5):c.2539del (p.Ile847fs)
|
rs1571575520
|
|
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
|
|
|
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
|
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)
|
rs1555537347
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)
|
rs970505762
|
|
NM_000137.4(FAH):c.1063-2A>G
|
rs1555442385
|
|
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)
|
rs121965077
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)
|
rs2041114940
|
|
NM_000137.4(FAH):c.14del (p.Pro5fs)
|
rs1057517341
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.328C>T (p.Gln110Ter)
|
rs754444882
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.615del (p.Phe205fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.615dup (p.Val206fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)
|
rs1567118987
|
|
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
|
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
|
|
|
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
|
|
|
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)
|
rs2041271608
|
|
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
|
rs2041316956
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)
|
rs121918494
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)
|
rs1057519036
|
|
NM_000141.5(FGFR2):c.958A>G (p.Thr320Ala)
|
rs2134260022
|
|
NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys)
|
rs1057517964
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)
|
rs1721198491
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)
|
rs121913114
|
|
NM_000143.4(FH):c.1021G>A (p.Asp341Asn)
|
rs11545655
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000143.4(FH):c.1144A>G (p.Met382Val)
|
rs886039365
|
|
NM_000143.4(FH):c.1154C>A (p.Ala385Asp)
|
rs727503926
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
NM_000143.4(FH):c.1391-269A>G
|
rs2147911550
|
|
NM_000143.4(FH):c.1445T>G (p.Leu482Ter)
|
rs1064796708
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.504del (p.Glu168fs)
|
rs776190273
|
|
NM_000143.4(FH):c.554A>G (p.Gln185Arg)
|
rs779707997
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)
|
rs199971078
|
|
NM_000143.4(FH):c.703C>T (p.His235Tyr)
|
rs863223968
|
|
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)
|
rs786202220
|
|
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)
|
rs1553341163
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000143.4(FH):c.934T>C (p.Phe312Leu)
|
rs863224000
|
|
NM_000143.4(FH):c.935T>C (p.Phe312Ser)
|
rs1553341046
|
|
NM_000143.4(FH):c.947C>A (p.Ala316Asp)
|
rs863224002
|
|
NM_000146.4(FTL):c.-161C>T
|
rs398124636
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
|
rs1639662981
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.136del (p.Leu46fs)
|
rs1057517227
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
|
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)
|
rs142917638
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)
|
rs2056081719
|
|
NM_000151.4(G6PC1):c.511del (p.Ile171fs)
|
rs1597990895
|
|
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)
|
rs1555559991
|
|
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)
|
rs1485038937
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
|
rs1057516367
|
|
NM_000151.4(G6PC1):c.858del (p.Lys287fs)
|
rs1057516858
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
|
rs786204467
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000153.4(GALC):c.1012del (p.Glu338fs)
|
rs1057516469
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.1273del (p.Val425fs)
|
rs1057516394
|
|
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)
|
rs1566974586
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.155del (p.Gly52fs)
|
rs1064793131
|
|
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)
|
rs1555378701
|
|
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)
|
rs1057516433
|
|
NM_000153.4(GALC):c.1884dup (p.Trp629fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.1911+1_1911+5del
|
rs777955784
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)
|
rs1240965365
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.467_468dup (p.Leu157fs)
|
rs1057517185
|
|
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)
|
rs968905231
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.583-1G>C
|
rs1555383310
|
|
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)
|
rs786204618
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.7dup (p.Glu3fs)
|
rs1555384381
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)
|
rs776368825
|
|
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)
|
rs1057516642
|
|
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)
|
rs387906954
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)
|
rs1057516808
|
|
NM_000153.4(GALC):c.9del (p.Glu3fs)
|
rs1555384380
|
|
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
|
|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
|
|
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
|
rs111033827
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
|
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
NM_000155.4(GALT):c.502G>A (p.Val168Met)
|
rs367543258
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)
|
rs111033744
|
|
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
|
rs1057516720
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
NM_000155.4(GALT):c.719_728del (p.Leu240fs)
|
rs111033838
|
|
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
|
rs1821176206
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
rs1821178833
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.957C>G (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
|
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.143+2T>C
|
rs2107250439
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
|
rs773775991
|
|
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
|
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)
|
rs2107114808
|
|
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
|
rs773473771
|
|
NM_000158.4(GBE1):c.47del (p.Ala16fs)
|
rs2107250805
|
|
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)
|
rs776943352
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
|
rs2107059544
|
|
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)
|
rs869025299
|
|
NM_000159.4(GCDH):c.1082+2T>C
|
rs2145954110
|
|
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)
|
rs398123190
|
|
NM_000159.4(GCDH):c.1173del (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)
|
rs2145955095
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr)
|
rs1599619080
|
|
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)
|
rs760155287
|
|
NM_000159.4(GCDH):c.1244-2A>G
|
rs199999619
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)
|
rs1970564107
|
|
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)
|
rs1006150317
|
|
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)
|
rs1555749239
|
|
NM_000159.4(GCDH):c.219del (p.Tyr74fs)
|
rs1057516521
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
NM_000159.4(GCDH):c.271+1G>A
|
rs786204639
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)
|
rs1273164833
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)
|
rs758137643
|
|
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)
|
rs1555749853
|
|
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
|
|
|
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)
|
rs139851890
|
|
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
|
|
|
NM_000159.4(GCDH):c.446T>C (p.Met149Thr)
|
rs2145944429
|
|
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
|
|
|
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)
|
rs1057516715
|
|
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)
|
rs786204627
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)
|
rs1970675055
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)
|
rs1970675873
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)
|
rs367699815
|
|
NM_000159.4(GCDH):c.79del (p.Ala27fs)
|
rs1057516939
|
|
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)
|
rs775606471
|
|
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)
|
rs139192015
|
|
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
|
|
|
NM_000159.4(GCDH):c.91+5G>A
|
rs952356983
|
|
NM_000159.4(GCDH):c.932dup (p.Ala312fs)
|
rs1970695925
|
|
NM_000162.3(GCK):c.-557G>C
|
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1099G>A (p.Val367Met)
|
rs1057521092
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)
|
rs193922281
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.185T>C (p.Val62Ala)
|
rs1444739794
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
NM_000162.5(GCK):c.617C>T (p.Thr206Met)
|
rs1441649062
|
|
NM_000162.5(GCK):c.703A>G (p.Met235Val)
|
rs1057521093
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.760A>C (p.Asn254His)
|
rs193922327
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
NM_000163.5(GHR):c.476T>A (p.Leu159Ter)
|
rs961681338
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg)
|
rs1060501004
|
|
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)
|
rs878853697
|
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097
|
|
NM_000166.6(GJB1):c.265C>G (p.Leu89Val)
|
rs1602349029
|
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158
|
|
NM_000166.6(GJB1):c.282C>A (p.His94Gln)
|
rs756000896
|
|
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197
|
|
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
rs771022595
|
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471
|
|
NM_000166.6(GJB1):c.566T>G (p.Val189Gly)
|
rs1064794244
|
|
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)
|
rs864622215
|
|
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)
|
rs1555984869
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)
|
rs730880441
|
|
NM_000169.3(GLA):c.109G>C (p.Ala37Pro)
|
rs869312226
|
|
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)
|
rs398123199
|
|
NM_000169.3(GLA):c.128del (p.Gly43fs)
|
rs797044500
|
|
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
|
rs869312255
|
|
NM_000169.3(GLA):c.154dup (p.Cys52fs)
|
|
|
NM_000169.3(GLA):c.370-2A>C
|
rs730880444
|
|
NM_000169.3(GLA):c.3G>A (p.Met1Ile)
|
rs2147487910
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.59C>A (p.Ala20Asp)
|
rs869312134
|
|
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)
|
rs1555987175
|
|
NM_000169.3(GLA):c.604T>C (p.Cys202Arg)
|
rs1569303843
|
|
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)
|
rs869312344
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.770C>T (p.Ala257Val)
|
rs1569303218
|
|
NM_000169.3(GLA):c.824_825del (p.Leu275fs)
|
rs1928173731
|
|
NM_000169.3(GLA):c.863del (p.Ala288fs)
|
rs1569303030
|
|
NM_000169.3(GLA):c.870G>A (p.Met290Ile)
|
rs869312438
|
|
NM_000169.3(GLA):c.902dup (p.His302fs)
|
rs1928166458
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)
|
rs779434645
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
|
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000183.3(HADHB):c.1389+5G>A
|
|
|
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
|
|
|
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
|
|
|
NM_000183.3(HADHB):c.811+82A>G
|
|
|
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)
|
rs1558357879
|
|
NM_000183.3(HADHB):c.962del (p.Met321fs)
|
|
|
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)
|
rs1210674261
|
|
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)
|
rs755790570
|
|
NM_000187.4(HGD):c.1188+1G>T
|
rs760206323
|
|
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)
|
rs767159114
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
NM_000187.4(HGD):c.87+1G>A
|
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
NM_000187.4(HGD):c.970dup (p.Val324fs)
|
rs34214309
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000190.4(HMBS):c.799G>A (p.Val267Met)
|
rs1057521126
|
|
NM_000190.4(HMBS):c.866_869del (p.Asp289fs)
|
|
|
NM_000190.4(HMBS):c.940_941del (p.Gln314fs)
|
rs1407093112
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.349_361del
|
|
|
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)
|
rs200189529
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.610del (p.Asp204fs)
|
rs2148419170
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
|
|
NM_000195.5(HPS1):c.1925del (p.Gly642fs)
|
rs2136083690
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)
|
rs1567915763
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)
|
rs1555620141
|
|
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)
|
rs1567914459
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)
|
rs1598749661
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
|
|
|
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
|
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000199.5(SGSH):c.745+1G>C
|
rs748525651
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
NM_000199.5(SGSH):c.949+1G>A
|
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.133G>C (p.Asp45His)
|
rs869025301
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
|
rs2089451657
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)
|
rs2147750927
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter)
|
rs754621187
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter)
|
rs772471533
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
NM_000213.5(ITGB4):c.884_885del (p.Thr295fs)
|
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
NM_000214.3(JAG1):c.1395+3A>G
|
rs886044220
|
|
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
|
|
|
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
|
rs193922361
|
|
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
|
|
|
NM_000215.4(JAK3):c.2680+89G>A
|
|
|
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)
|
rs1424732031
|
|
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys)
|
rs2137673633
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.403del (p.Val135fs)
|
rs794728565
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)
|
rs530612385
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)
|
rs193922365
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)
|
rs199472755
|
|
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)
|
rs121913512
|
|
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)
|
rs121913514
|
|
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter)
|
rs1571810782
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
|
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.30del (p.Glu10fs)
|
rs2109380824
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
|
rs1057517051
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)
|
rs1553940687
|
|
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
|
rs1172318248
|
|
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
|
|
|
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter)
|
rs2128839600
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)
|
rs1554431441
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000246.4(CIITA):c.1962dup (p.Gly655fs)
|
rs778982759
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)
|
rs143023066
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
|
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)
|
rs1085308002
|
|
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs)
|
rs1595846344
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs)
|
rs397515979
|
|
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
|
rs2095879705
|
|
NM_000256.3(MYBPC3):c.3330+5G>T
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3627+2del
|
rs1555120258
|
|
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)
|
rs397516038
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.821+3G>T
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000256.3(MYBPC3):c.906-36G>A
|
rs864622197
|
|
NM_000256.3(MYBPC3):c.927-10C>A
|
rs201078659
|
|
NM_000257.4(MYH7):c.1012G>A (p.Val338Met)
|
rs727503271
|
|
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)
|
rs730880864
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser)
|
rs730880732
|
|
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)
|
rs397516132
|
|
NM_000257.4(MYH7):c.2129C>A (p.Pro710His)
|
rs727504272
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)
|
rs727503261
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)
|
rs727504356
|
|
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)
|
rs730880750
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys)
|
rs397516170
|
|
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn)
|
rs727503252
|
|
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del)
|
rs397516172
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys)
|
rs727503245
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
|
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)
|
rs397516212
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.596C>T (p.Ala199Val)
|
rs727504283
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
|
rs1555067598
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)
|
rs121965084
|
|
NM_000260.4(MYO7A):c.1690+1G>A
|
rs111033389
|
|
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter)
|
rs782598897
|
|
NM_000260.4(MYO7A):c.2164G>C (p.Gly722Arg)
|
rs1954557651
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)
|
rs2135473615
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.3532del (p.Gln1178fs)
|
rs111033239
|
|
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs)
|
rs111033390
|
|
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs)
|
rs1555090368
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro)
|
rs397516310
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla)
|
rs111033259
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5434G>A (p.Glu1812Lys)
|
rs377267777
|
|
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
|
rs780609120
|
|
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)
|
rs797044512
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)
|
rs1588528503
|
|
NM_000264.5(PTCH1):c.407dup (p.Ser137fs)
|
rs1564063386
|
|
NM_000266.4(NDP):c.112C>T (p.Arg38Cys)
|
rs758550101
|
|
NM_000266.4(NDP):c.361C>T (p.Arg121Trp)
|
rs104894878
|
|
NM_000270.4(PNP):c.286-18G>A
|
rs1026474882
|
|
NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs)
|
rs1057516950
|
|
NM_000271.5(NPC1):c.1133_1161del (p.Val378fs)
|
rs1555637164
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)
|
rs1057517077
|
|
NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter)
|
rs1555642296
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)
|
rs201156397
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)
|
rs2059213874
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
NM_000271.5(NPC1):c.2179del (p.Val727fs)
|
rs2145394955
|
|
NM_000271.5(NPC1):c.2245+1G>A
|
|
|
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)
|
rs1169032037
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)
|
rs917070773
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2775del (p.Asn925fs)
|
rs1057516603
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
NM_000271.5(NPC1):c.2965_2966del (p.Arg989fs)
|
rs1555632977
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.3325del (p.Ile1109fs)
|
rs1057517149
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)
|
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3591+2dup
|
rs2145342749
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000271.5(NPC1):c.395del (p.Pro132fs)
|
rs1057516462
|
|
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)
|
rs1057516749
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.852dup (p.Gly285fs)
|
rs762124334
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter)
|
rs2083414866
|
|
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
|
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
|
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.198del (p.Gly67fs)
|
rs1432416419
|
|
NM_000274.4(OAT):c.515_516del (p.Phe172fs)
|
rs2134476898
|
|
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)
|
rs386833612
|
|
NM_000274.4(OAT):c.542C>T (p.Thr181Met)
|
rs386833613
|
|
NM_000274.4(OAT):c.780del (p.Phe260fs)
|
rs2134456707
|
|
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)
|
rs267606924
|
|
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)
|
rs2134456170
|
|
NM_000274.4(OAT):c.952del (p.Glu318fs)
|
rs386833620
|
|
NM_000274.4(OAT):c.966del (p.Tyr323fs)
|
rs1951417940
|
|
NM_000274.4(OAT):c.97dup (p.Thr33fs)
|
rs1375779674
|
|
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
|
|
|
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
|
|
|
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
|
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
|
|
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
|
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)
|
rs747408689
|
|
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter)
|
rs759876062
|
|
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)
|
rs2124419087
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
NM_000277.3(PAH):c.1065+1G>A
|
rs62516147
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)
|
rs62644465
|
|
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)
|
rs62644473
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)
|
rs1371700813
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.1315+4A>G
|
rs62508649
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)
|
rs62508591
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)
|
rs1466564208
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
NM_000277.3(PAH):c.3G>C (p.Met1Ile)
|
rs62514893
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
NM_000277.3(PAH):c.603T>G (p.His201Gln)
|
rs751977644
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.662A>G (p.Glu221Gly)
|
rs62514934
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.665A>T (p.Asp222Val)
|
rs62507319
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.755G>C (p.Arg252Pro)
|
rs62644503
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)
|
rs1565846805
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)
|
rs62508691
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)
|
rs62508715
|
|
NM_000277.3(PAH):c.826A>G (p.Met276Val)
|
rs62516149
|
|
NM_000277.3(PAH):c.827T>A (p.Met276Lys)
|
rs62508722
|
|
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)
|
rs199475660
|
|
NM_000277.3(PAH):c.868C>T (p.His290Tyr)
|
rs1486763160
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)
|
rs1554856032
|
|
NM_000278.5(PAX2):c.483del (p.Gly162fs)
|
rs2133894273
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)
|
rs2142228928
|
|
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
|
rs749650201
|
|
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)
|
rs2072781707
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
NM_000290.4(PGAM2):c.533del (p.Gly178fs)
|
rs747947171
|
|
NM_000291.4(PGK1):c.639C>T (p.Gly213=)
|
rs797044505
|
|
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)
|
rs1601781031
|
|
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)
|
rs1601781024
|
|
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)
|
rs1555989523
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
|
rs772912966
|
|
NM_000295.5(SERPINA1):c.-5+1G>A
|
|
|
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)
|
rs864622043
|
|
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs)
|
rs764325655
|
|
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
|
|
|
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
|
|
|
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)
|
rs864622051
|
|
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)
|
rs199422210
|
|
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs)
|
rs921982028
|
|
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
|
|
|
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)
|
rs1555368557
|
|
NM_000298.6(PKLR):c.1378G>A (p.Val460Met)
|
rs752034960
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)
|
rs2141014102
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)
|
rs2060678732
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.55del (p.Ala19fs)
|
rs1596481889
|
|
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)
|
rs201855351
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)
|
rs201440361
|
|
NM_000303.3(PMM2):c.584_585del (p.His195fs)
|
|
|
NM_000303.3(PMM2):c.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
|
|
|
NM_000303.3(PMM2):c.67-1G>C
|
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
|
rs148759949
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)
|
rs151319324
|
|
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro)
|
rs2060937980
|
|
NM_000303.3(PMM2):c.72del (p.Thr25fs)
|
rs2060617981
|
|
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
|
rs104894621
|
|
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg)
|
rs786204064
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029
|
|
NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter)
|
rs111033343
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.175del (p.Glu59fs)
|
rs386833635
|
|
NM_000310.4(PPT1):c.184del (p.Ile62fs)
|
rs1057517192
|
|
NM_000310.4(PPT1):c.294_297dup (p.Ala100fs)
|
rs1057517049
|
|
NM_000310.4(PPT1):c.29_41del (p.Leu10fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.29_41dup (p.Leu15fs)
|
rs762226836
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000310.4(PPT1):c.433+1G>A
|
rs1553167415
|
|
NM_000310.4(PPT1):c.455del (p.Cys152fs)
|
rs886041568
|
|
NM_000310.4(PPT1):c.529C>T (p.Gln177Ter)
|
rs386833650
|
|
NM_000310.4(PPT1):c.532del (p.Glu178fs)
|
rs878853325
|
|
NM_000310.4(PPT1):c.541G>T (p.Val181Leu)
|
rs148412181
|
|
NM_000310.4(PPT1):c.629_630dup (p.Ile211fs)
|
rs1302326945
|
|
NM_000310.4(PPT1):c.653dup (p.Asn218fs)
|
rs1057516889
|
|
NM_000310.4(PPT1):c.6del (p.Ser3fs)
|
rs1570476221
|
|
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)
|
rs878853322
|
|
NM_000310.4(PPT1):c.721del (p.Ser241fs)
|
rs1553166499
|
|
NM_000310.4(PPT1):c.727-2A>T
|
rs386833664
|
|
NM_000310.4(PPT1):c.798+1G>T
|
rs878853929
|
|
NM_000310.4(PPT1):c.798+2T>C
|
rs1553166337
|
|
NM_000312.4(PROC):c.632G>A (p.Arg211Gln)
|
rs199469476
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)
|
rs587782343
|
|
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.422A>C (p.His141Pro)
|
rs863224666
|
|
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)
|
rs398123324
|
|
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr)
|
rs398123324
|
|
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
|
rs864622341
|
|
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)
|
rs786201867
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)
|
rs121909239
|
|
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)
|
rs398123329
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)
|
rs786202004
|
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
NM_000317.3(PTS):c.174_175del (p.Val59fs)
|
rs2135408968
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)
|
rs104894273
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
|
rs1174648906
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1216-1G>A
|
rs587778831
|
|
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)
|
rs121913303
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)
|
rs1555295354
|
|
NM_000321.3(RB1):c.32_63del (p.Ala11fs)
|
rs1593411974
|
|
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)
|
rs1555279210
|
|
NM_000321.3(RB1):c.596T>A (p.Leu199Ter)
|
rs121913298
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
|
rs1761913048
|
|
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)
|
rs2152010976
|
|
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)
|
rs1761911206
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)
|
rs2152010916
|
|
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del)
|
rs1800116963
|
|
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)
|
rs61755797
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)
|
rs61755802
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)
|
rs1800115811
|
|
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)
|
rs2152005339
|
|
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)
|
rs61755806
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)
|
rs61755810
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)
|
rs1800111659
|
|
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)
|
rs62645935
|
|
NM_000322.5(PRPH2):c.811del (p.Leu271fs)
|
rs1582764528
|
|
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)
|
rs751900290
|
|
NM_000322.5(PRPH2):c.828+2T>C
|
rs1800108496
|
|
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)
|
rs62645938
|
|
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)
|
rs1554268521
|
|
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)
|
rs786205626
|
|
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp)
|
rs28933990
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
|
rs1571165140
|
|
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser)
|
rs1131691380
|
|
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)
|
rs281865351
|
|
NM_000330.4(RS1):c.625C>T (p.Arg209Cys)
|
rs281865361
|
|
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr)
|
rs2147188856
|
|
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)
|
rs199473100
|
|
NM_000335.5(SCN5A):c.1140+1G>A
|
rs730880210
|
|
NM_000335.5(SCN5A):c.1816del (p.Ala606fs)
|
rs2125901090
|
|
NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter)
|
rs1064795085
|
|
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)
|
rs137854611
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.2533del (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)
|
rs794728865
|
|
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)
|
rs199473168
|
|
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His)
|
rs199473587
|
|
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)
|
rs199473175
|
|
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)
|
rs756159737
|
|
NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs)
|
rs1064792926
|
|
NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter)
|
rs2125871040
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln)
|
rs199473554
|
|
NM_000335.5(SCN5A):c.3244del (p.Ser1082fs)
|
rs1064795784
|
|
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp)
|
rs199473556
|
|
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys)
|
rs199473204
|
|
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)
|
rs1559738598
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
NM_000335.5(SCN5A):c.3960+1G>A
|
rs483353016
|
|
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser)
|
rs28937317
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
|
NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs)
|
rs1553695398
|
|
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter)
|
rs1553695282
|
|
NM_000335.5(SCN5A):c.4191del (p.Val1399fs)
|
rs1064796233
|
|
NM_000335.5(SCN5A):c.4242+2T>A
|
rs794728880
|
|
NM_000335.5(SCN5A):c.4296+1del
|
rs1450434935
|
|
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn)
|
rs137854607
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu)
|
rs199473629
|
|
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)
|
rs886037903
|
|
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)
|
rs1060501127
|
|
NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs)
|
rs1553692660
|
|
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs)
|
rs794728924
|
|
NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp)
|
rs2125914363
|
|
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
|
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
NM_000338.3(SLC12A1):c.2716C>T (p.Gln906Ter)
|
rs1597456179
|
|
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)
|
rs764247288
|
|
NM_000338.3(SLC12A1):c.590_599del (p.Phe197fs)
|
|
|
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)
|
rs567478582
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)
|
rs750930293
|
|
NM_000342.4(SLC4A1):c.1353_1380del (p.Phe451fs)
|
|
|
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter)
|
rs2144612096
|
|
NM_000342.4(SLC4A1):c.184C>T (p.Gln62Ter)
|
|
|
NM_000342.4(SLC4A1):c.2214_2217del (p.Thr739fs)
|
|
|
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
|
rs121912751
|
|
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
|
|
|
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter)
|
rs1057518216
|
|
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
|
|
|
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)
|
rs866706988
|
|
NM_000348.4(SRD5A2):c.317del (p.Pro106fs)
|
rs767595335
|
|
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile)
|
rs759318152
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.160+5G>C
|
rs1064793004
|
|
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)
|
rs61748559
|
|
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)
|
rs1553192682
|
|
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)
|
rs1064793006
|
|
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)
|
rs760790294
|
|
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg)
|
rs62654397
|
|
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg)
|
rs776910485
|
|
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del)
|
rs2101069736
|
|
NM_000350.3(ABCA4):c.2382+1G>A
|
rs1660983058
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser)
|
rs1660701838
|
|
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)
|
rs763267492
|
|
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)
|
rs1801269
|
|
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr)
|
rs1064793010
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val)
|
rs552517556
|
|
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)
|
rs568792949
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4926C>A (p.Ser1642Arg)
|
rs61753017
|
|
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg)
|
rs1659840790
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile)
|
rs752160946
|
|
NM_000350.3(ABCA4):c.571-1G>T
|
rs61748533
|
|
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val)
|
rs1659470705
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000353.3(TAT):c.1047del (p.Asn349fs)
|
rs1555537673
|
|
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
|
|
|
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)
|
rs118203914
|
|
NM_000353.3(TAT):c.177dup (p.Val60fs)
|
rs1555538156
|
|
NM_000353.3(TAT):c.226dup (p.Leu76fs)
|
rs746077579
|
|
NM_000353.3(TAT):c.707-2A>G
|
rs1005382525
|
|
NM_000353.3(TAT):c.814del (p.Ile272fs)
|
rs2044197900
|
|
NM_000353.3(TAT):c.825del (p.Cys275fs)
|
rs2145231253
|
|
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)
|
rs778381859
|
|
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)
|
rs121918722
|
|
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)
|
rs121918723
|
|
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu)
|
rs121918721
|
|
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
|
rs1590166832
|
|
NM_000360.4(TH):c.1125del (p.Glu375fs)
|
rs2133690407
|
|
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)
|
rs1554922593
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
NM_000360.4(TH):c.12dup (p.Asp5fs)
|
rs1057516716
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.51del (p.Val18fs)
|
|
|
NM_000360.4(TH):c.714_715del (p.Leu239fs)
|
rs1564918287
|
|
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
|
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
|
|
|
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro)
|
rs397516354
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)
|
rs1588355838
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.364-2A>G
|
rs1846685279
|
|
NM_000368.5(TSC1):c.508+2T>C
|
rs2132185885
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
|
rs1554817388
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
NM_000369.5(TSHR):c.1835del (p.Gln612fs)
|
rs1595179250
|
|
NM_000369.5(TSHR):c.305_306del (p.Lys102fs)
|
|
|
NM_000369.5(TSHR):c.418del (p.Met140fs)
|
rs1085307573
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000371.4(TTR):c.277A>G (p.Ile93Val)
|
rs1598845164
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000371.4(TTR):c.425T>C (p.Val142Ala)
|
rs2144414426
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.178_179del (p.Leu60fs)
|
|
|
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)
|
rs137854890
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)
|
rs1482829698
|
|
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
|
|
|
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)
|
|
|
NM_000372.5(TYR):c.938_939dup (p.Ser314fs)
|
rs867751958
|
|
NM_000372.5(TYR):c.996G>A (p.Met332Ile)
|
rs2135253415
|
|
NM_000380.4(XPA):c.10del (p.Ala4fs)
|
rs779161471
|
|
NM_000380.4(XPA):c.368del (p.Leu123fs)
|
rs778804405
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)
|
rs387906257
|
|
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)
|
rs72547569
|
|
NM_000383.4(AIRE):c.1066dup (p.Arg356fs)
|
rs1555872879
|
|
NM_000383.4(AIRE):c.1084del (p.Val362fs)
|
rs1057517254
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)
|
rs1057517072
|
|
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)
|
rs1057516272
|
|
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
|
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.260del (p.Leu87fs)
|
rs1057517428
|
|
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)
|
rs179363884
|
|
NM_000383.4(AIRE):c.328del (p.Arg110fs)
|
rs1162316051
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
|
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)
|
rs940485051
|
|
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)
|
rs1057517241
|
|
NM_000383.4(AIRE):c.868del (p.Gln290fs)
|
rs2146379725
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)
|
rs1382988295
|
|
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)
|
rs1215189537
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
NM_000387.6(SLC25A20):c.125del (p.Pro42fs)
|
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
NM_000387.6(SLC25A20):c.542del (p.Pro181fs)
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
NM_000390.4(CHM):c.116+1G>A
|
rs786204761
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)
|
rs121908199
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1497del (p.Gly501fs)
|
rs1554901523
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000392.5(ABCC2):c.2153del (p.Asn718fs)
|
|
|
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)
|
|
|
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)
|
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)
|
rs397515625
|
|
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)
|
rs193922445
|
|
NM_000397.4(CYBB):c.1237dup (p.Val413fs)
|
rs1569480031
|
|
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter)
|
rs2146822029
|
|
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)
|
rs193922449
|
|
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)
|
rs864622273
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1707del (p.Ile569fs)
|
rs767672172
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)
|
rs1553606128
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)
|
rs1803200
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
NM_000404.4(GLB1):c.245+1G>C
|
rs778423653
|
|
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)
|
rs1553612145
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
NM_000404.4(GLB1):c.65_75+1del
|
rs1382394474
|
|
NM_000404.4(GLB1):c.694dup (p.Ala232fs)
|
rs1553611025
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)
|
rs111033563
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)
|
rs1598377051
|
|
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)
|
rs2048642260
|
|
NM_000419.5(ITGA2B):c.559del (p.Val187fs)
|
rs1469711487
|
|
NM_000424.4(KRT5):c.992G>A (p.Arg331His)
|
rs56729325
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
|
|
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
|
rs1778794887
|
|
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
|
rs1008335405
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)
|
rs1583790201
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)
|
rs2114839550
|
|
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
|
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000428.3(LTBP2):c.2628C>G (p.Tyr876Ter)
|
rs1566622093
|
|
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
|
rs776735249
|
|
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)
|
rs199474814
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)
|
rs764148985
|
|
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)
|
rs1568359346
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)
|
rs1023306013
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)
|
rs1555729510
|
|
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)
|
rs797045014
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)
|
rs1555729452
|
|
NM_000440.3(PDE6A):c.1065+2T>A
|
rs1554090012
|
|
NM_000440.3(PDE6A):c.1263+1G>T
|
rs369896113
|
|
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)
|
rs773065850
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
|
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)
|
rs111033205
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
|
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
|
|
|
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
|
rs1556026033
|
|
NM_000444.6(PHEX):c.1302+1G>T
|
rs1131691841
|
|
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
|
|
|
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu)
|
rs1064794306
|
|
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro)
|
rs760870713
|
|
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser)
|
rs1064795106
|
|
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp)
|
rs1057517795
|
|
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val)
|
rs1057517795
|
|
NM_000444.6(PHEX):c.1900-1G>A
|
rs755406730
|
|
NM_000444.6(PHEX):c.1966-1G>C
|
rs1064795147
|
|
NM_000444.6(PHEX):c.2070+1G>A
|
rs1057518596
|
|
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs)
|
rs1064796540
|
|
NM_000444.6(PHEX):c.2138dup (p.Gln714fs)
|
rs886041375
|
|
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer)
|
rs1556205980
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)
|
|
|
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
|
|
|
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)
|
rs1568810316
|
|
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)
|
rs1301635320
|
|
NM_000454.5(SOD1):c.352C>G (p.Leu118Val)
|
rs199474723
|
|
NM_000454.5(SOD1):c.446T>G (p.Val149Gly)
|
rs1476760624
|
|
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)
|
rs1169198442
|
|
NM_000455.5(STK11):c.141dup (p.Lys48fs)
|
rs2145405118
|
|
NM_000455.5(STK11):c.169dup (p.Glu57fs)
|
rs121913319
|
|
NM_000455.5(STK11):c.290+1G>C
|
rs1131690950
|
|
NM_000455.5(STK11):c.526G>A (p.Asp176Asn)
|
rs730881979
|
|
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
|
NM_000455.5(STK11):c.543C>G (p.Asn181Lys)
|
rs730881973
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.717G>C (p.Trp239Cys)
|
rs137853082
|
|
NM_000455.5(STK11):c.734+1G>T
|
rs587782018
|
|
NM_000455.5(STK11):c.735-1G>A
|
rs1057517830
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
NM_000455.5(STK11):c.911G>C (p.Arg304Pro)
|
rs376280361
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000460.4(THPO):c.13+1G>C
|
rs2108623965
|
|
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)
|
rs775463336
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
NM_000465.4(BARD1):c.1345del (p.Gln449fs)
|
rs2106081379
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1543del (p.Ser515fs)
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
NM_000465.4(BARD1):c.1735dup (p.Ser579fs)
|
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)
|
rs1644719715
|
|
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)
|
rs1553414611
|
|
NM_000478.6(ALPL):c.1171dup (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp)
|
rs1289406215
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)
|
rs1384701659
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)
|
rs786204473
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg)
|
rs1644687066
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)
|
rs121912681
|
|
NM_000486.6(AQP2):c.97_119del (p.Asn33fs)
|
rs772201159
|
|
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)
|
rs753415648
|
|
NM_000487.6(ARSA):c.1107+1del
|
rs1057517036
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)
|
rs765905826
|
|
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)
|
rs74315481
|
|
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
|
|
|
NM_000487.6(ARSA):c.1337del (p.Gly446fs)
|
rs750030142
|
|
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)
|
rs761555167
|
|
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)
|
rs148352371
|
|
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.200del (p.Pro67fs)
|
rs2082697802
|
|
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)
|
rs1057516288
|
|
NM_000487.6(ARSA):c.240dup (p.Gly81fs)
|
rs786204599
|
|
NM_000487.6(ARSA):c.295dup (p.Arg99fs)
|
rs1555901056
|
|
NM_000487.6(ARSA):c.304del (p.Leu102fs)
|
rs786204673
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.418del (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.418dup (p.His140fs)
|
rs745884435
|
|
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)
|
rs199476375
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000487.6(ARSA):c.545del (p.Pro182fs)
|
rs1057516907
|
|
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)
|
rs2082680103
|
|
NM_000487.6(ARSA):c.622del (p.His208fs)
|
rs1555900900
|
|
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)
|
rs757891932
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000487.6(ARSA):c.758dup (p.Met254fs)
|
rs74315270
|
|
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)
|
rs74315483
|
|
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)
|
rs966673017
|
|
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)
|
rs199476342
|
|
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)
|
rs1555900678
|
|
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)
|
rs199476360
|
|
NM_000487.6(ARSA):c.929del (p.Gly310fs)
|
rs1057516638
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000487.6(ARSA):c.979+1G>A
|
rs754722529
|
|
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)
|
rs398123418
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|
NM_000488.4(SERPINC1):c.1154-14G>A
|
rs542881762
|
|
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter)
|
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1140T>A (p.Tyr380Ter)
|
|
|
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)
|
rs397508170
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
|
|
NM_000492.4(CFTR):c.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.164+1G>T
|
rs397508243
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)
|
rs80055610
|
|
NM_000492.4(CFTR):c.1680-1G>C
|
rs121908794
|
|
NM_000492.4(CFTR):c.1680-877G>T
|
rs397508261
|
|
NM_000492.4(CFTR):c.1703T>A (p.Leu568Ter)
|
rs397508273
|
|
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)
|
rs121909025
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)
|
rs397508308
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
NM_000492.4(CFTR):c.1882G>C (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.2036G>A (p.Trp679Ter)
|
rs397508333
|
|
NM_000492.4(CFTR):c.2044del (p.Thr682fs)
|
rs1554389346
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2475_2478dup (p.Glu827fs)
|
rs1554389486
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2620-2A>G
|
rs1554390859
|
|
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)
|
rs397508412
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.274-5_274-2del
|
rs1584784850
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
NM_000492.4(CFTR):c.2822del (p.Leu941fs)
|
rs762844777
|
|
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)
|
rs151048781
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3022del (p.Val1008fs)
|
rs397508482
|
|
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)
|
rs1554392027
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)
|
rs756219310
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)
|
rs397508571
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3536_3539del (p.Thr1179fs)
|
rs121908782
|
|
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)
|
rs397508588
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.3717+1G>A
|
rs750558115
|
|
NM_000492.4(CFTR):c.3717+40A>G
|
rs397508595
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3873+2T>C
|
rs146795445
|
|
NM_000492.4(CFTR):c.3944_3951del (p.Ile1315fs)
|
rs754392413
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4035_4038dup (p.Ser1347fs)
|
rs1554397497
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
NM_000492.4(CFTR):c.416A>T (p.His139Leu)
|
rs76371115
|
|
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer)
|
rs397508693
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)
|
rs397508707
|
|
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)
|
rs750559671
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)
|
rs1554397769
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.53+2T>C
|
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.739_742dup (p.Arg248fs)
|
rs1057517342
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000492.4(CFTR):c.828C>A (p.Cys276Ter)
|
rs397508799
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.869+3A>T
|
rs1554380828
|
|
NM_000492.4(CFTR):c.870-1113_870-1110del
|
rs397508809
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000493.4(COL10A1):c.1789T>C (p.Tyr597His)
|
|
|
NM_000493.4(COL10A1):c.1823del (p.Thr608fs)
|
rs2114278254
|
|
NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)
|
rs1237394833
|
|
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg)
|
rs864309698
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)
|
rs762727830
|
|
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)
|
rs201552310
|
|
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)
|
rs727503034
|
|
NM_000501.4(ELN):c.2T>C (p.Met1Thr)
|
rs863223518
|
|
NM_000505.4(F12):c.577G>T (p.Glu193Ter)
|
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
|
rs1967935882
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)
|
rs1348149236
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
NM_000512.5(GALNS):c.77dup (p.Ala27fs)
|
rs2143013573
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter)
|
rs2146178875
|
|
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)
|
rs137854539
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.221_224dup (p.Leu76fs)
|
rs1564875128
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1114del (p.Val372fs)
|
rs2140321846
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1422-1G>T
|
rs1555472296
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1526+1G>T
|
rs1309204908
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.1A>C (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)
|
rs751546658
|
|
NM_000520.6(HEXA):c.237_253+7del
|
rs770628999
|
|
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)
|
rs769370282
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.465del (p.Phe155fs)
|
rs1057516850
|
|
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
|
rs1555473070
|
|
NM_000520.6(HEXA):c.568_569del (p.Leu190fs)
|
rs2088721832
|
|
NM_000520.6(HEXA):c.570+1G>A
|
rs786204754
|
|
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
|
rs1057517296
|
|
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)
|
rs1057519461
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)
|
rs556872918
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)
|
rs1554036943
|
|
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
|
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)
|
rs1554037129
|
|
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)
|
rs1554037137
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
|
rs1748943719
|
|
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
|
|
|
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)
|
rs2112135868
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
|
|
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
|
rs771103635
|
|
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp)
|
rs2133380076
|
|
NM_000527.4(LDLR):c.-135C>G
|
|
|
NM_000527.4(LDLR):c.-136C>T
|
rs879254374
|
|
NM_000527.4(LDLR):c.-152C>T
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys)
|
rs544453230
|
|
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)
|
rs879254405
|
|
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)
|
rs2077362782
|
|
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)
|
rs193922566
|
|
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)
|
rs13306515
|
|
NM_000527.5(LDLR):c.1061-2A>G
|
rs879254773
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)
|
rs767767730
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)
|
rs879254788
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr)
|
rs879254792
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
NM_000527.5(LDLR):c.1118G>T (p.Gly373Val)
|
rs879254797
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)
|
rs879254801
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro)
|
rs879254807
|
|
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg)
|
rs879254814
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.1187-1G>T
|
rs879254824
|
|
NM_000527.5(LDLR):c.1187-2A>G
|
rs879254823
|
|
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)
|
rs875989918
|
|
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)
|
rs879254826
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)
|
rs879254838
|
|
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser)
|
rs879254839
|
|
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
|
rs879254844
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp)
|
rs879254847
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
|
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
|
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
NM_000527.5(LDLR):c.1284del (p.Asn428fs)
|
rs2077409930
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)
|
rs121908036
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)
|
rs773566855
|
|
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)
|
rs879254867
|
|
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
NM_000527.5(LDLR):c.1358+2T>C
|
rs193922567
|
|
NM_000527.5(LDLR):c.1359-1G>C
|
rs139617694
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
|
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)
|
rs879254905
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
|
rs730880130
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)
|
rs869025454
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)
|
rs730882106
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
|
rs879254965
|
|
NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg)
|
rs879254966
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val)
|
rs28942081
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)
|
rs878854026
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1706-1G>T
|
rs879254996
|
|
NM_000527.5(LDLR):c.1706-2A>T
|
rs878854027
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)
|
rs879254999
|
|
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000
|
|
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)
|
rs879254423
|
|
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys)
|
rs875989928
|
|
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn)
|
rs875989929
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
NM_000527.5(LDLR):c.1845+11C>G
|
rs370245937
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)
|
rs879255054
|
|
NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn)
|
rs879255059
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.190+1G>A
|
rs879254428
|
|
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs)
|
rs2077524382
|
|
NM_000527.5(LDLR):c.191-1G>A
|
rs879254433
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)
|
rs879255080
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg)
|
rs879255095
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
NM_000527.5(LDLR):c.1A>G (p.Met1Val)
|
rs879254382
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr)
|
rs875989938
|
|
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly)
|
rs879255118
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2092del (p.Cys698fs)
|
rs879255135
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)
|
rs879255136
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)
|
rs879255139
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.2140+1G>T
|
rs145787161
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)
|
rs2147216927
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
NM_000527.5(LDLR):c.233del (p.Arg78fs)
|
rs1057516129
|
|
NM_000527.5(LDLR):c.2389+1G>A
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389+1G>T
|
rs879255186
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)
|
rs750518671
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)
|
rs879254447
|
|
NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)
|
rs879254448
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)
|
rs875989892
|
|
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)
|
rs875989892
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)
|
rs879254451
|
|
NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)
|
rs875989894
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)
|
rs879254456
|
|
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)
|
rs879254457
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)
|
rs879254464
|
|
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.313+2dup
|
rs875989897
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)
|
rs121908042
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.340_344del (p.Phe114fs)
|
rs1057516132
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)
|
rs879254514
|
|
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)
|
rs879254514
|
|
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)
|
rs879254518
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.420G>T (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)
|
rs875989901
|
|
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)
|
rs875989901
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)
|
rs879254526
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
NM_000527.5(LDLR):c.467del (p.Asn156fs)
|
rs1057516135
|
|
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg)
|
rs879254547
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
NM_000527.5(LDLR):c.502G>C (p.Asp168His)
|
rs200727689
|
|
NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr)
|
rs200727689
|
|
NM_000527.5(LDLR):c.514G>C (p.Asp172His)
|
rs879254554
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
|
rs879254572
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)
|
rs730882085
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
|
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)
|
rs879254611
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
|
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del)
|
rs1555803439
|
|
NM_000527.5(LDLR):c.68-1G>A
|
rs879254397
|
|
NM_000527.5(LDLR):c.680A>T (p.Asp227Val)
|
rs879254638
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly)
|
rs879254642
|
|
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)
|
rs1208216597
|
|
NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)
|
rs746091400
|
|
NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)
|
rs746091400
|
|
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr)
|
rs879254644
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
|
|
NM_000527.5(LDLR):c.695-1G>A
|
rs879254652
|
|
NM_000527.5(LDLR):c.695-1G>T
|
rs879254652
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
NM_000527.5(LDLR):c.817+1G>A
|
rs879254685
|
|
NM_000527.5(LDLR):c.818-1G>A
|
rs879254688
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)
|
rs879254692
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707
|
|
NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr)
|
rs879254713
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
NM_000527.5(LDLR):c.905del (p.Cys302fs)
|
rs1057516130
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000527.5(LDLR):c.940+3_940+6del
|
rs2077315885
|
|
NM_000527.5(LDLR):c.941-1G>A
|
rs879254735
|
|
NM_000527.5(LDLR):c.941-2A>C
|
rs112366278
|
|
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
|
rs2024014272
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
|
rs2023804275
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
|
rs771479314
|
|
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)
|
rs1057516810
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596
|
|
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186
|
|
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)
|
rs786204119
|
|
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
|
rs1670284480
|
|
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)
|
rs1553259697
|
|
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)
|
rs1060503418
|
|
NM_000530.8(MPZ):c.309G>T (p.Gly103=)
|
rs1131691852
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038
|
|
NM_000530.8(MPZ):c.419C>T (p.Ser140Phe)
|
rs863224449
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000531.5(OTC):c.-106C>A
|
rs749748052
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000531.6(OTC):c.803T>C (p.Met268Thr)
|
rs72558449
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)
|
rs28933394
|
|
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)
|
rs200248198
|
|
NM_000539.3(RHO):c.563G>A (p.Gly188Glu)
|
rs1424131846
|
|
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)
|
rs104893777
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10627-1G>C
|
rs1568539909
|
|
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)
|
rs1555790936
|
|
NM_000540.3(RYR1):c.11320del (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12110del (p.Gly4037fs)
|
rs1555795308
|
|
NM_000540.3(RYR1):c.12113dup (p.Met4038fs)
|
rs1568562752
|
|
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr)
|
rs193922844
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys)
|
rs1555799628
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)
|
rs1599641280
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter)
|
rs565173276
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)
|
rs2145895177
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14539G>C (p.Val4847Leu)
|
rs1568605042
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile)
|
rs1555803922
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)
|
rs1568613061
|
|
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs)
|
rs1568613455
|
|
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)
|
rs1568614042
|
|
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)
|
rs193922769
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.2870+1G>A
|
rs765241115
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
|
|
|
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter)
|
rs1968813234
|
|
NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter)
|
rs398123472
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr)
|
rs917523269
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys)
|
rs762401851
|
|
NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val)
|
rs193922805
|
|
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
|
rs193922810
|
|
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu)
|
rs28933396
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)
|
rs193922818
|
|
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)
|
rs193922832
|
|
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter)
|
rs1171637302
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
|
rs193922762
|
|
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)
|
rs749656679
|
|
NM_000540.3(RYR1):c.9983del (p.Gly3328fs)
|
rs2145682923
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1502-6G>A
|
rs1458430820
|
|
NM_000545.8(HNF1A):c.526+5_526+8del
|
rs2135833007
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)
|
rs375338359
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
NM_000546.6(TP53):c.1101-1G>A
|
rs876658982
|
|
NM_000546.6(TP53):c.1101-2A>G
|
rs587781664
|
|
NM_000546.6(TP53):c.148dup (p.Ile50fs)
|
rs1567556956
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.273_279del (p.Trp91fs)
|
rs1064796124
|
|
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)
|
rs1060501195
|
|
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)
|
rs1060501195
|
|
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del)
|
rs886039495
|
|
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs)
|
rs2073455679
|
|
NM_000546.6(TP53):c.327_328del (p.Phe109fs)
|
rs1064795434
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)
|
rs11540654
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.375+1G>A
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+1G>C
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+1G>T
|
rs1567555445
|
|
NM_000546.6(TP53):c.375+2T>A
|
rs1555526469
|
|
NM_000546.6(TP53):c.375+2T>C
|
rs1555526469
|
|
NM_000546.6(TP53):c.375G>T (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.376-2A>G
|
rs786202799
|
|
NM_000546.6(TP53):c.379T>C (p.Ser127Pro)
|
rs1597371694
|
|
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr)
|
rs730881999
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del)
|
rs879254214
|
|
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)
|
rs1131691037
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.409_417del (p.Leu137_Lys139del)
|
rs2073395622
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.428T>C (p.Val143Ala)
|
rs1555526241
|
|
NM_000546.6(TP53):c.430C>T (p.Gln144Ter)
|
rs757274881
|
|
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)
|
rs1206165503
|
|
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)
|
rs137852790
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.455C>G (p.Pro152Arg)
|
rs587782705
|
|
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)
|
rs587782144
|
|
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)
|
rs1567553501
|
|
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
|
rs1555526131
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
|
rs2073376974
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)
|
rs28934578
|
|
NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)
|
rs2073361326
|
|
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)
|
rs751477326
|
|
NM_000546.6(TP53):c.532C>G (p.His178Asp)
|
rs1064795203
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)
|
rs879253911
|
|
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)
|
rs397514495
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+1G>T
|
rs1131691042
|
|
NM_000546.6(TP53):c.560-19_560-9del
|
rs2073351094
|
|
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)
|
rs876660825
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
NM_000546.6(TP53):c.672G>A (p.Glu224=)
|
rs267605076
|
|
NM_000546.6(TP53):c.673-1G>C
|
rs878854073
|
|
NM_000546.6(TP53):c.673-2A>G
|
rs1555525585
|
|
NM_000546.6(TP53):c.695T>A (p.Ile232Asn)
|
rs587781589
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.706T>C (p.Tyr236His)
|
rs587782289
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.721T>A (p.Ser241Thr)
|
rs1057520002
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
|
rs985033810
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.736A>G (p.Met246Val)
|
rs483352695
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)
|
rs1064794311
|
|
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del)
|
rs2073243450
|
|
NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del)
|
|
|
NM_000546.6(TP53):c.761T>A (p.Ile254Asn)
|
rs1330865474
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
|
|
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del)
|
rs1064794309
|
|
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
|
rs121912652
|
|
NM_000546.6(TP53):c.794T>A (p.Leu265Gln)
|
rs879253942
|
|
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)
|
rs879253942
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
NM_000546.6(TP53):c.892del (p.Glu298fs)
|
rs2073177507
|
|
NM_000546.6(TP53):c.917_919+6del
|
rs1567546716
|
|
NM_000546.6(TP53):c.919+1G>A
|
rs1131691039
|
|
NM_000546.6(TP53):c.919+2T>G
|
rs1131691016
|
|
NM_000546.6(TP53):c.920-2A>G
|
rs397516439
|
|
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)
|
rs764735889
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.97-1G>A
|
rs1597375294
|
|
NM_000546.6(TP53):c.97-1G>T
|
rs1597375294
|
|
NM_000546.6(TP53):c.993G>A (p.Gln331=)
|
rs11575996
|
|
NM_000546.6(TP53):c.994-1G>A
|
rs587782272
|
|
NM_000546.6(TP53):c.994-1G>C
|
rs587782272
|
|
NM_000546.6(TP53):c.994-2A>G
|
rs867389695
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2772del (p.Phe924fs)
|
rs1555508938
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.336+1G>T
|
|
|
NM_000548.5(TSC2):c.336+5G>C
|
rs1057523242
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
NM_000548.5(TSC2):c.975+1G>A
|
rs137854200
|
|
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)
|
rs387906562
|
|
NM_000553.6(WRN):c.1012_1018del (p.Val338fs)
|
rs2130118911
|
|
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)
|
rs1563338855
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
|
|
|
NM_000553.6(WRN):c.15del (p.Lys5fs)
|
rs878854133
|
|
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)
|
rs1585440064
|
|
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)
|
rs757808169
|
|
NM_000553.6(WRN):c.1754del (p.Pro585fs)
|
|
|
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
|
|
|
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)
|
rs1585449207
|
|
NM_000553.6(WRN):c.229dup (p.Asp77fs)
|
rs747587698
|
|
NM_000553.6(WRN):c.2503del (p.Gln835fs)
|
rs748484883
|
|
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)
|
rs2130322576
|
|
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
|
rs1802222407
|
|
NM_000553.6(WRN):c.3244del (p.Val1082fs)
|
rs745905108
|
|
NM_000553.6(WRN):c.3382dup (p.Ser1128fs)
|
rs778872619
|
|
NM_000553.6(WRN):c.3408dup (p.Ala1137fs)
|
rs1284409960
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000553.6(WRN):c.3726del (p.Lys1243fs)
|
rs2130469991
|
|
NM_000553.6(WRN):c.3972del (p.Val1325fs)
|
|
|
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
|
|
|
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
|
|
|
NM_000553.6(WRN):c.487_488del (p.Asp163fs)
|
rs797045118
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
|
rs1813280584
|
|
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)
|
rs863224863
|
|
NM_000554.6(CRX):c.431_434del (p.Pro144fs)
|
rs1968165008
|
|
NM_000557.5(GDF5):c.466C>T (p.Arg156Ter)
|
rs1194065564
|
|
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)
|
rs764122274
|
|
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter)
|
rs74315386
|
|
NM_000587.4(C7):c.1204C>T (p.Arg402Ter)
|
|
|
NM_000587.4(C7):c.253del (p.Cys85fs)
|
|
|
NM_000587.4(C7):c.633_643del (p.Ser212fs)
|
rs770367814
|
|
NM_000593.6(TAP1):c.-46_-45delinsAT
|
rs1770963822
|
|
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)
|
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
|
|
|
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)
|
rs1553185418
|
|
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)
|
rs1057516741
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
|
rs1652879873
|
|
NM_000642.3(AGL):c.293+1G>T
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.3630del (p.Lys1210fs)
|
rs1653938652
|
|
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
|
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
|
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)
|
rs2101052251
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
|
rs1298823471
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
|
|
|
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
|
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)
|
rs2122142757
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_000782.5(CYP24A1):c.62del (p.Pro21fs)
|
rs774432244
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
NM_000790.4(DDC):c.316del
|
rs1364054304
|
|
NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs)
|
|
|
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val)
|
rs1555893359
|
|
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del)
|
rs1554414710
|
|
NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg)
|
rs1798086782
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
|
|
|
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
|
|
|
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
|
|
|
NM_000944.5(PPP3CA):c.1340-2A>G
|
rs1553920188
|
|
NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter)
|
rs1726803653
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_001003722.2(GLE1):c.1685dup (p.Gln563fs)
|
|
|
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs)
|
rs762942358
|
|
NM_001004334.4(GPR179):c.1818G>A (p.Trp606Ter)
|
rs1268507778
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.2357+1G>T
|
rs111517471
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.951del (p.His318fs)
|
rs1555148048
|
|
NM_001005242.3(PKP2):c.962_965del (p.Val321fs)
|
rs2137946218
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)
|
rs747832403
|
|
NM_001006658.3(CR2):c.624dup (p.Thr209fs)
|
rs747832403
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter)
|
rs2080116822
|
|
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs)
|
rs1775758975
|
|
NM_001013838.3(CARMIL2):c.1352_1382del (p.Pro451fs)
|
|
|
NM_001017420.3(ESCO2):c.1654C>T (p.Arg552Ter)
|
rs991672013
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)
|
rs80359857
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met)
|
rs730881141
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
|
|
|
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp)
|
rs1203066173
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
NM_001029883.3(PCARE):c.2298del (p.Arg767fs)
|
rs1553354660
|
|
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
|
rs1397537890
|
|
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
|
rs797046101
|
|
NM_001029896.2(WDR45):c.516+1_516+3del
|
rs1557084113
|
|
NM_001029896.2(WDR45):c.827+5G>C
|
rs1557083956
|
|
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)
|
rs1182983579
|
|
NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)
|
rs137853112
|
|
NM_001032382.2(PQBP1):c.623_624del (p.Ser208fs)
|
rs1064796253
|
|
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs)
|
rs751610886
|
|
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
|
|
|
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)
|
rs2131108640
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)
|
rs1663793007
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)
|
rs1558698334
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001039876.3(SYNE4):c.702del (p.Trp236fs)
|
|
|
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
|
rs121917751
|
|
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
|
|
|
NM_001040436.3(YARS2):c.201dup (p.Gly68fs)
|
rs1555137047
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.908del (p.Gly303fs)
|
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)
|
rs2066785949
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
NM_001042492.3(NF1):c.15del (p.Arg5fs)
|
rs1057516197
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)
|
rs2144003808
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1845+1_1845+5del
|
rs1135402822
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-2A>G
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)
|
rs1060500368
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.2823del (p.Ser942fs)
|
rs2067074423
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe)
|
rs1597716277
|
|
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)
|
rs1135402834
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2T>A (p.Met1Lys)
|
rs886041346
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)
|
rs1555614634
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)
|
rs1555614858
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4332+2T>C
|
rs786204207
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)
|
rs2151464729
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4578-20_4578-18del
|
rs1597748617
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)
|
rs2067764827
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-2A>G
|
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)
|
rs1060500339
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.586+2T>C
|
rs1135402791
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)
|
rs1567786905
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.60+1G>C
|
rs1555594500
|
|
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)
|
rs786201924
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)
|
rs2151554939
|
|
NM_001042492.3(NF1):c.6428-2A>C
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
NM_001042492.3(NF1):c.6600del (p.Ser2201fs)
|
rs1135402892
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.6705-1G>A
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
NM_001042492.3(NF1):c.7062+2T>C
|
rs1135402898
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
|
rs2066507556
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs)
|
rs606231161
|
|
NM_001042545.2(LTBP4):c.942T>A (p.Cys314Ter)
|
|
|
NM_001042750.2(STAG2):c.1196+4_1196+7del
|
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)
|
rs863224501
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)
|
rs1437789978
|
|
NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter)
|
rs1060501321
|
|
NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)
|
rs1553125677
|
|
NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)
|
rs1060501325
|
|
NM_001048174.2(MUTYH):c.1237del (p.Glu413fs)
|
rs1064795480
|
|
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
|
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.1434+1G>T
|
rs876659420
|
|
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)
|
rs1645371113
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)
|
rs878854189
|
|
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
|
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
NM_001048174.2(MUTYH):c.309_322dup (p.Met108fs)
|
rs1553129652
|
|
NM_001048174.2(MUTYH):c.310del (p.Val104fs)
|
rs1553129676
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001048174.2(MUTYH):c.379A>T (p.Lys127Ter)
|
rs876660787
|
|
NM_001048174.2(MUTYH):c.420+19_420+31del
|
rs781222233
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs)
|
rs1057517457
|
|
NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter)
|
rs1553128813
|
|
NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)
|
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)
|
rs1645561773
|
|
NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter)
|
|
|
NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter)
|
rs1060501324
|
|
NM_001048174.2(MUTYH):c.994del (p.Arg332fs)
|
rs1057517456
|
|
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg)
|
rs104895228
|
|
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)
|
rs1199226176
|
|
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)
|
rs1596528731
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
NM_001077653.2(TBX20):c.418dup (p.Val140fs)
|
rs1562567739
|
|
NM_001077653.2(TBX20):c.697dup (p.Ile233fs)
|
rs2128714664
|
|
NM_001079802.2(FKTN):c.528dup (p.His177fs)
|
rs1588112379
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)
|
rs751484879
|
|
NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter)
|
rs754414954
|
|
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg)
|
rs368486097
|
|
NM_001080.3(ALDH5A1):c.1402+1G>T
|
rs762290992
|
|
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
|
|
|
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
|
|
|
NM_001080414.4(CCDC88C):c.1219C>T (p.Arg407Ter)
|
rs1064796464
|
|
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)
|
rs1553635637
|
|
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)
|
rs2045524028
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
|
|
|
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
|
|
|
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)
|
rs776299562
|
|
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)
|
rs747870811
|
|
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys)
|
rs2145503179
|
|
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer)
|
rs1555764839
|
|
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)
|
rs1555710726
|
|
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)
|
rs2144406630
|
|
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
|
rs121909121
|
|
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)
|
rs1131691735
|
|
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)
|
rs1576387876
|
|
NM_001098.3(ACO2):c.822dup (p.Ile275fs)
|
rs1188048436
|
|
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter)
|
rs758123382
|
|
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)
|
rs752492512
|
|
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)
|
rs1571892196
|
|
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)
|
rs1659978909
|
|
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile)
|
rs1659978452
|
|
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp)
|
rs1435160117
|
|
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)
|
rs1064794652
|
|
NM_001100.4(ACTA1):c.541del (p.Asp181fs)
|
rs759242559
|
|
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg)
|
rs1057521117
|
|
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)
|
rs886039472
|
|
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly)
|
rs61748392
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)
|
rs782099475
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)
|
rs2133805364
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)
|
rs2131885848
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1311+2T>C
|
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)
|
rs104894390
|
|
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr)
|
rs757336022
|
|
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs)
|
|
|
NM_001122764.3(PPOX):c.1287del (p.Lys429fs)
|
|
|
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)
|
rs786204784
|
|
NM_001122769.3(LCA5):c.574dup (p.Thr192fs)
|
rs1057519136
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
|
|
|
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)
|
rs13306668
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
|
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys)
|
rs146191537
|
|
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)
|
rs750710315
|
|
NM_001126108.2(SLC12A3):c.2963_2966dup (p.Tyr990fs)
|
rs769798104
|
|
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)
|
rs770513014
|
|
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
|
rs748920885
|
|
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)
|
rs886041687
|
|
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs)
|
rs1229339759
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
NM_001127464.2(ZNF469):c.1673del (p.Ala558Valfs)
|
rs1064795080
|
|
NM_001127464.2(ZNF469):c.3034delG (p.Val1012Serfs)
|
rs1555519050
|
|
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs)
|
rs886039575
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)
|
rs189199636
|
|
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs)
|
rs1561159768
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001128228.3(TPRN):c.225_235dup (p.Leu79fs)
|
rs387906221
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter)
|
rs1064795596
|
|
NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter)
|
rs767402084
|
|
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)
|
rs387907345
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
|
rs2092204417
|
|
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
|
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
|
rs2092343409
|
|
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
|
rs1252415299
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
|
|
|
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
|
rs2094861411
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
|
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)
|
rs267604688
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)
|
rs397518468
|
|
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)
|
rs869312916
|
|
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)
|
rs397514557
|
|
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)
|
rs2042447540
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)
|
rs2141294911
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)
|
rs796052549
|
|
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)
|
rs1555488119
|
|
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)
|
rs776791010
|
|
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)
|
rs1064796608
|
|
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)
|
rs397518466
|
|
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter)
|
rs1306036000
|
|
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)
|
rs1057524089
|
|
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter)
|
rs1314619609
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|
NM_001136035.4(TRMT1):c.1168C>T (p.Arg390Ter)
|
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001139.3(ALOX12B):c.292del (p.His98fs)
|
rs1555643912
|
|
NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs)
|
rs1057520101
|
|
NM_001142800.2(EYS):c.7723+1G>A
|
rs1770412895
|
|
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)
|
rs1554163919
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)
|
rs1409801782
|
|
NM_001142800.2(EYS):c.9400del (p.Val3134fs)
|
rs886042614
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter)
|
|
|
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)
|
rs72811487
|
|
NM_001145860.2(POP1):c.2332C>T (p.Gln778Ter)
|
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)
|
rs1568480054
|
|
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)
|
rs1057518332
|
|
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
|
rs1740799305
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
NM_001164508.2(NEB):c.13788+1G>A
|
rs1553862061
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3843del (p.Leu1282fs)
|
rs2154199737
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)
|
rs2154175437
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9619-1G>A
|
rs1390379576
|
|
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
|
rs1553547448
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)
|
rs1266877537
|
|
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)
|
rs121918796
|
|
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)
|
rs1696401617
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
|
rs1698960532
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)
|
rs1553551493
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
|
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)
|
rs2105889854
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)
|
rs779184118
|
|
NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
|
|
|
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter)
|
rs371889155
|
|
NM_001174089.2(SLC4A11):c.2089_2092del (p.Phe697fs)
|
rs1377933433
|
|
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
|
|
|
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)
|
rs765816079
|
|
NM_001177316.2(SLC34A3):c.925+20_926-48del
|
rs1554784044
|
|
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
|
|
|
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)
|
rs753671880
|
|
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe)
|
rs186558364
|
|
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)
|
rs387906574
|
|
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter)
|
rs760636660
|
|
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs)
|
rs758414053
|
|
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter)
|
rs1204010423
|
|
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile)
|
rs121912711
|
|
NM_001184.4(ATR):c.1491_1492insAA (p.Gln498fs)
|
|
|
NM_001184.4(ATR):c.2320dup (p.Ile774fs)
|
rs757500301
|
|
NM_001184.4(ATR):c.2831del (p.Ser944fs)
|
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
NM_001184880.2(PCDH19):c.2675+1G>T
|
|
|
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter)
|
rs2147485081
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)
|
rs2147541733
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
|
|
|
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter)
|
rs1291689114
|
|
NM_001195248.2(APTX):c.835T>C (p.Trp279Arg)
|
rs773393618
|
|
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
|
|
|
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs)
|
rs1177831852
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
|
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
|
|
|
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter)
|
rs1468599549
|
|
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys)
|
rs587783562
|
|
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)
|
rs587783568
|
|
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)
|
rs1555038090
|
|
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter)
|
rs1555034779
|
|
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)
|
rs753324947
|
|
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)
|
rs571007078
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter)
|
rs1553354522
|
|
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter)
|
rs4672457
|
|
NM_001201543.2(FAM161A):c.1830del (p.Leu611fs)
|
rs1292802544
|
|
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)
|
rs748847284
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001242957.3(MAK):c.1366_1367del (p.Lys456fs)
|
rs935003657
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)
|
rs2151453936
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
|
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)
|
rs2151454690
|
|
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
|
|
|
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
|
rs775794698
|
|
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
|
rs764608253
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
|
|
|
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
|
rs745684193
|
|
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
|
rs779820462
|
|
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)
|
rs1912887899
|
|
NM_001243279.3(ACSF3):c.16del (p.Val6fs)
|
rs1338859307
|
|
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
|
rs775569136
|
|
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
|
rs1313088429
|
|
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
|
|
|
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
|
rs1432097143
|
|
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
|
rs1975494455
|
|
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
|
rs767946490
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
|
|
|
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
|
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)
|
rs782074040
|
|
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)
|
rs1249437161
|
|
NM_001256789.3(CACNA1F):c.3236+1G>A
|
rs1064797371
|
|
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs)
|
rs1557105474
|
|
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
|
rs1557110499
|
|
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
|
|
|
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)
|
rs398122397
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)
|
rs1596443241
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr)
|
rs2136213384
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001277115.2(DNAH11):c.11203-1G>C
|
rs1783074775
|
|
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)
|
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
NM_001278116.2(L1CAM):c.1267+1G>A
|
rs1557092247
|
|
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
|
|
|
NM_001278116.2(L1CAM):c.2431+5G>A
|
rs1557090943
|
|
NM_001278116.2(L1CAM):c.400+5G>A
|
rs1569544908
|
|
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)
|
rs1562245046
|
|
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)
|
rs1489114116
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
|
|
|
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs)
|
rs1279657093
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)
|
rs1363658406
|
|
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)
|
rs780546933
|
|
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
|
rs387907576
|
|
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg)
|
rs1757529135
|
|
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)
|
|
|
NM_001291867.2(NHS):c.3659dup (p.Asn1220fs)
|
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter)
|
rs876657656
|
|
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
|
|
|
NM_001292063.2(OTOG):c.432del (p.Gln145fs)
|
rs1393191930
|
|
NM_001292063.2(OTOG):c.4985del (p.Gly1662fs)
|
rs1565116526
|
|
NM_001292063.2(OTOG):c.499del (p.Val167fs)
|
rs876657657
|
|
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
|
|
|
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)
|
rs1064794342
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
NM_001298.3(CNGA3):c.542A>G (p.Tyr181Cys)
|
rs1692740329
|
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503
|
|
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)
|
rs1554169984
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
|
rs1925418549
|
|
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)
|
rs2147145565
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
|
rs267608418
|
|
NM_001330368.2(C11orf65):c.641-6751dup
|
rs1555113505
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)
|
|
|
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu)
|
rs1057524152
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)
|
rs1553663084
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001352027.3(PHF21A):c.262C>T (p.Gln88Ter)
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
NM_001355436.2(SPTB):c.1249C>T (p.Gln417Ter)
|
rs2139606980
|
|
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)
|
rs1566775577
|
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
|
NM_001355436.2(SPTB):c.4973+5G>A
|
rs1555367789
|
|
NM_001355436.2(SPTB):c.5856del (p.Ile1952fs)
|
|
|
NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly)
|
rs1235889026
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1423C>G (p.Arg475Gly)
|
rs1064794574
|
|
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)
|
rs796052235
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
|
|
|
NM_001358530.2(MOCS1):c.1150+1G>T
|
rs2149398895
|
|
NM_001358530.2(MOCS1):c.291del (p.Ala99fs)
|
rs755808099
|
|
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
|
|
|
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
|
|
|
NM_001358921.2(COQ2):c.261G>A (p.Trp87Ter)
|
|
|
NM_001360.3(DHCR7):c.1004del (p.Pro335fs)
|
rs1555145646
|
|
NM_001360.3(DHCR7):c.1057del (p.Val353fs)
|
rs759720450
|
|
NM_001360.3(DHCR7):c.1066del (p.His356fs)
|
rs774291653
|
|
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)
|
rs1591107421
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)
|
rs140791666
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
|
|
|
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)
|
rs201270451
|
|
NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)
|
rs1057516977
|
|
NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)
|
rs104886041
|
|
NM_001360.3(DHCR7):c.355del (p.His119fs)
|
rs747827699
|
|
NM_001360.3(DHCR7):c.356A>T (p.His119Leu)
|
rs28938174
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)
|
rs1949357136
|
|
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)
|
rs949177
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)
|
rs121909764
|
|
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)
|
rs886041354
|
|
NM_001360.3(DHCR7):c.803del (p.Asn268fs)
|
rs1555146023
|
|
NM_001360.3(DHCR7):c.808A>G (p.Met270Val)
|
rs1555146021
|
|
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)
|
rs184297154
|
|
NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer)
|
rs1555145874
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)
|
rs1555145862
|
|
NM_001360.3(DHCR7):c.952del (p.Tyr318fs)
|
rs1555145859
|
|
NM_001360.3(DHCR7):c.963+2T>G
|
rs1057517070
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)
|
rs1057516610
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001361.5(DHODH):c.248_261del (p.Leu83fs)
|
rs776973679
|
|
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter)
|
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
|
|
|
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
|
|
|
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs)
|
rs748194265
|
|
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs)
|
rs1009807148
|
|
NM_001363711.2(DUOX2):c.3667del (p.His1223fs)
|
rs754179275
|
|
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs)
|
rs1566971699
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
|
|
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
|
|
|
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
|
rs1578999313
|
|
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
|
rs1484948342
|
|
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
|
|
|
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs)
|
rs1292460656
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter)
|
rs766341332
|
|
NM_001365999.1(SZT2):c.7255C>T (p.Arg2419Ter)
|
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001366722.1(GRIP1):c.30T>A (p.Cys10Ter)
|
rs758192469
|
|
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter)
|
rs1057520100
|
|
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)
|
rs758111714
|
|
NM_001367624.2(ZNF469):c.10332dup (p.Arg3445fs)
|
rs764470052
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001367916.1(MAGT1):c.490G>T (p.Glu164Ter)
|
rs2149018425
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)
|
rs767779749
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.6988+2T>C
|
rs2151806960
|
|
NM_001369.3(DNAH5):c.7407+1G>A
|
rs749711805
|
|
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs)
|
rs727504802
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
|
|
|
NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs)
|
rs1952647904
|
|
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)
|
rs797044854
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)
|
rs778875017
|
|
NM_001371596.2(MFSD8):c.1350+2T>C
|
rs1736332381
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)
|
rs774150500
|
|
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)
|
rs749294057
|
|
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
|
|
|
NM_001371986.1(UNC80):c.8698del (p.Trp2900fs)
|
rs886043644
|
|
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)
|
|
|
NM_001372.4(DNAH9):c.1733del (p.Leu578fs)
|
|
|
NM_001372.4(DNAH9):c.4995_4998del (p.Phe1666fs)
|
|
|
NM_001374385.1(ATP8B1):c.136C>T (p.Arg46Ter)
|
|
|
NM_001374385.1(ATP8B1):c.212del (p.Arg71fs)
|
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs)
|
rs1794569741
|
|
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter)
|
rs759667494
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)
|
rs1057518961
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs)
|
rs759649136
|
|
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)
|
rs1178331074
|
|
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs)
|
rs1555042801
|
|
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs)
|
rs1380132788
|
|
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)
|
rs137853031
|
|
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs)
|
rs1555070451
|
|
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer)
|
rs1218198013
|
|
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs)
|
rs1553416867
|
|
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter)
|
rs375019820
|
|
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs)
|
rs1553418500
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs)
|
rs1412574975
|
|
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs)
|
rs1553421626
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs)
|
rs757722767
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs)
|
rs1553421741
|
|
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs)
|
rs1553403282
|
|
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)
|
rs1347176614
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.20del (p.Pro7fs)
|
rs1340135231
|
|
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
|
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs)
|
rs769291842
|
|
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)
|
rs765764128
|
|
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)
|
rs1230351650
|
|
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs)
|
rs1553398842
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)
|
rs2103780557
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
|
rs1208636696
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs)
|
rs770264966
|
|
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
|
|
|
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)
|
rs777080769
|
|
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs)
|
rs1553404180
|
|
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs)
|
rs1553404252
|
|
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)
|
rs1553404310
|
|
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs)
|
rs1553404337
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs)
|
rs1553404423
|
|
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs)
|
rs1553404426
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer)
|
rs758952057
|
|
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs)
|
rs1553409683
|
|
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs)
|
rs1553409686
|
|
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)
|
rs1553409691
|
|
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer)
|
rs1553409710
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
|
rs1270472063
|
|
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs)
|
rs1553409764
|
|
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs)
|
rs1553409774
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter)
|
rs368412850
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
|
rs754690894
|
|
NM_001378609.3(OTOGL):c.3760dup (p.Tyr1254fs)
|
rs1064795124
|
|
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter)
|
|
|
NM_001378609.3(OTOGL):c.6494C>A (p.Ser2165Ter)
|
|
|
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs)
|
rs876657658
|
|
NM_001378778.1(MPDZ):c.3100C>T (p.Arg1034Ter)
|
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001379180.1(ESRRB):c.923dup (p.Ile309fs)
|
|
|
NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter)
|
rs1560616550
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs)
|
rs778909108
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter)
|
rs2038190712
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)
|
rs2033274775
|
|
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
|
|
|
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)
|
rs141153181
|
|
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe)
|
rs869320709
|
|
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)
|
rs104893967
|
|
NM_001386140.1(MTTP):c.399dup (p.Glu134fs)
|
|
|
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)
|
rs755653150
|
|
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
|
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
NM_001394132.1(HRURF):c.2T>A (p.Met1Lys)
|
rs387906382
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)
|
rs876657639
|
|
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)
|
rs2020255486
|
|
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])
|
rs1064793104
|
|
NM_001399.5(EDA):c.706+1G>A
|
rs886039344
|
|
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)
|
rs397516679
|
|
NM_001414.4(EIF2B1):c.588_589del (p.Gly196_Ala197insTer)
|
rs768945314
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe)
|
rs886039568
|
|
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)
|
rs80356504
|
|
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)
|
rs1553704446
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001478.5(B4GALNT1):c.139del (p.Arg47fs)
|
rs1555186937
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
NM_001482.3(GATM):c.216G>A (p.Trp72Ter)
|
rs1566842679
|
|
NM_001482.3(GATM):c.959del (p.Pro320fs)
|
rs1889443484
|
|
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)
|
rs768027510
|
|
NM_001492.6(GDF1):c.909dup (p.Val304fs)
|
rs606231383
|
|
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
|
rs770272088
|
|
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs)
|
rs1639761448
|
|
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter)
|
rs373792616
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)
|
rs878853218
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)
|
rs398122973
|
|
NM_001673.5(ASNS):c.17C>A (p.Ala6Glu)
|
rs398122975
|
|
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs)
|
rs1753477155
|
|
NM_001737.5(C9):c.1039_1042del (p.Ser347fs)
|
rs1027370764
|
|
NM_001737.5(C9):c.1184_1185del (p.Ser395fs)
|
rs752437276
|
|
NM_001737.5(C9):c.1209_1222del (p.Asp403fs)
|
rs767328870
|
|
NM_001737.5(C9):c.162C>A (p.Cys54Ter)
|
rs34000044
|
|
NM_001737.5(C9):c.877del (p.Met293fs)
|
|
|
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)
|
rs398124647
|
|
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)
|
rs398124647
|
|
NM_001754.5(RUNX1):c.351+1G>C
|
rs1060502579
|
|
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)
|
rs1060499616
|
|
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)
|
rs1553196096
|
|
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)
|
rs1553196101
|
|
NM_001791.4(CDC42):c.476C>T (p.Ala159Val)
|
rs1553196134
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg)
|
|
|
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
|
rs1939463507
|
|
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp)
|
rs886043561
|
|
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)
|
rs1246771678
|
|
NM_001844.5(COL2A1):c.1941+1G>A
|
rs1555166808
|
|
NM_001844.5(COL2A1):c.1995+1G>T
|
rs2136556600
|
|
NM_001844.5(COL2A1):c.1996-9G>A
|
rs2136555221
|
|
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
|
rs1939189846
|
|
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)
|
rs1555166528
|
|
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val)
|
rs2136548974
|
|
NM_001844.5(COL2A1):c.2490del (p.Gly831fs)
|
rs1273496827
|
|
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg)
|
rs886042043
|
|
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
|
|
|
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg)
|
rs121912891
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala)
|
rs1938686073
|
|
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)
|
rs1592235241
|
|
NM_001844.5(COL2A1):c.519del (p.Gly174fs)
|
rs1592235124
|
|
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp)
|
rs1064794264
|
|
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)
|
rs1555168505
|
|
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser)
|
rs1064794777
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
|
rs587780588
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
|
rs1877796698
|
|
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg)
|
rs2139156247
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001851.6(COL9A1):c.1178del (p.Pro393fs)
|
rs1482734025
|
|
NM_001851.6(COL9A1):c.902dup (p.Pro306fs)
|
rs771382737
|
|
NM_001852.4(COL9A2):c.1242del (p.Gly415fs)
|
rs756694568
|
|
NM_001852.4(COL9A2):c.1506del (p.Asn503fs)
|
rs1040081238
|
|
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)
|
rs1201247953
|
|
NM_001853.4(COL9A3):c.1739dup (p.Gly581fs)
|
rs764718355
|
|
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)
|
rs1343199316
|
|
NM_001854.4(COL11A1):c.2916+1G>A
|
rs2101595036
|
|
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)
|
rs2101066868
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)
|
rs1553513864
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
|
rs1700523651
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.4404+3A>G
|
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
NM_001876.4(CPT1A):c.1163+2T>C
|
rs1555229059
|
|
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)
|
rs2153997913
|
|
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
|
|
|
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)
|
rs1057516800
|
|
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)
|
rs1163935346
|
|
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)
|
rs765161206
|
|
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)
|
rs398123654
|
|
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
|
rs80356774
|
|
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)
|
rs1043413100
|
|
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)
|
rs886039332
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)
|
rs572340170
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.828del (p.Phe276fs)
|
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
|
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
|
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)
|
rs1375081885
|
|
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)
|
rs1567934773
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)
|
rs1568105371
|
|
NM_001943.5(DSG2):c.803_810dup (p.Val271fs)
|
rs2073149649
|
|
NM_001943.5(DSG2):c.882dup (p.Val295fs)
|
rs1187924885
|
|
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
|
rs121913007
|
|
NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs)
|
rs1200526412
|
|
NM_001953.5(TYMP):c.1416del (p.Phe473fs)
|
rs1203886148
|
|
NM_001953.5(TYMP):c.274del (p.Thr92fs)
|
rs2069502314
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)
|
rs187424345
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
|
|
NM_001985.3(ETFB):c.61del (p.Arg21fs)
|
|
|
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)
|
rs869312821
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)
|
rs869312824
|
|
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
|
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)
|
rs1448018291
|
|
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)
|
rs766555082
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)
|
rs1474512248
|
|
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter)
|
rs2136073462
|
|
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)
|
rs754699820
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)
|
rs137853067
|
|
NM_002294.3(LAMP2):c.190_191del (p.Val64fs)
|
rs1569371330
|
|
NM_002299.4(LCT):c.4967_4976del (p.Asn1656fs)
|
rs2077596325
|
|
NM_002317.7(LOX):c.210_226dup (p.Val76fs)
|
|
|
NM_002317.7(LOX):c.545del (p.Pro182fs)
|
rs1372924173
|
|
NM_002317.7(LOX):c.604G>T (p.Gly202Ter)
|
rs1473260982
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg)
|
rs80358313
|
|
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)
|
rs2098614719
|
|
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)
|
rs1085307078
|
|
NM_002336.3(LRP6):c.1003C>T (p.Arg335Ter)
|
rs1565611848
|
|
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)
|
rs397515546
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002435.3(MPI):c.1022del (p.Pro341fs)
|
|
|
NM_002435.3(MPI):c.1022dup (p.Val342fs)
|
rs765310894
|
|
NM_002435.3(MPI):c.1087del (p.Ala363fs)
|
rs2141209567
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)
|
rs1661886822
|
|
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
|
|
|
NM_002435.3(MPI):c.713del (p.Leu238fs)
|
rs745432667
|
|
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
|
rs749911553
|
|
NM_002435.3(MPI):c.84_88del (p.Arg29fs)
|
rs753839890
|
|
NM_002435.3(MPI):c.880dup (p.Val294fs)
|
rs1555479351
|
|
NM_002437.5(MPV17):c.185del (p.Val62fs)
|
rs755624411
|
|
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)
|
rs774833271
|
|
NM_002439.5(MSH3):c.1060dup (p.Val354fs)
|
rs1580553669
|
|
NM_002439.5(MSH3):c.1148del (p.Lys383fs)
|
rs587776701
|
|
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)
|
rs578113271
|
|
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs)
|
rs757194485
|
|
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs)
|
rs778610412
|
|
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)
|
rs1395288001
|
|
NM_002439.5(MSH3):c.211_230dup (p.His78fs)
|
rs1749219575
|
|
NM_002439.5(MSH3):c.2227_2228del (p.Gln743fs)
|
rs1371600437
|
|
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)
|
rs777054839
|
|
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)
|
rs149350323
|
|
NM_002439.5(MSH3):c.586del (p.Thr196fs)
|
rs771721952
|
|
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)
|
rs1565943228
|
|
NM_002468.5(MYD88):c.103_104del (p.Leu35fs)
|
rs776336832
|
|
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)
|
rs766768674
|
|
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter)
|
rs779530750
|
|
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter)
|
|
|
NM_002470.4(MYH3):c.4726_4729del (p.Lys1576fs)
|
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs)
|
rs1235801428
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
NM_002528.7(NTHL1):c.203del (p.Gly68fs)
|
rs1555492819
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
|
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_002529.4(NTRK1):c.1196-1G>A
|
rs764171953
|
|
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)
|
rs80356677
|
|
NM_002529.4(NTRK1):c.2046dup (p.Val683fs)
|
rs2102925337
|
|
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)
|
rs121964868
|
|
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
|
|
|
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
|
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
|
rs531987102
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
|
NM_002617.4(PEX10):c.338del (p.Leu113fs)
|
rs878853044
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)
|
rs2100429011
|
|
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
|
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)
|
rs1295555837
|
|
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
|
|
|
NM_002617.4(PEX10):c.755_756del (p.His252fs)
|
rs1325771720
|
|
NM_002617.4(PEX10):c.8del (p.Pro3fs)
|
|
|
NM_002617.4(PEX10):c.912+1G>C
|
rs1553231739
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)
|
rs587777627
|
|
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)
|
rs397514632
|
|
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)
|
rs2055625602
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.2395del (p.Ser799fs)
|
rs796052919
|
|
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
|
rs778429780
|
|
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)
|
rs1356604153
|
|
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)
|
rs121918051
|
|
NM_002693.3(POLG):c.2884dup (p.Ala962fs)
|
rs1252078081
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)
|
rs1064793800
|
|
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)
|
rs767138032
|
|
NM_002693.3(POLG):c.3482+2T>C
|
rs1466226819
|
|
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
|
rs1555453950
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp)
|
rs1556300610
|
|
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)
|
rs2097494390
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.782T>A (p.Leu261His)
|
rs765642157
|
|
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)
|
rs539898848
|
|
NM_002878.4(RAD51D):c.131_144+24del
|
rs1064795716
|
|
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)
|
rs771077929
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)
|
rs786202434
|
|
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)
|
rs1555568293
|
|
NM_002878.4(RAD51D):c.576+1G>T
|
rs781161543
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)
|
rs1567726305
|
|
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)
|
rs2142418516
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
NM_002878.4(RAD51D):c.85del (p.Val29fs)
|
rs1057517586
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)
|
rs3730271
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)
|
rs397516830
|
|
NM_002900.3(RBP3):c.1227del (p.Val411fs)
|
|
|
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys)
|
rs1694399198
|
|
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)
|
rs387907303
|
|
NM_003036.4(SKI):c.539C>T (p.Thr180Met)
|
rs863223722
|
|
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)
|
rs1580892239
|
|
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)
|
rs1580892402
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)
|
rs2126789878
|
|
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)
|
rs1057518297
|
|
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)
|
rs779385095
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
|
|
|
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)
|
rs2126791456
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)
|
rs386134223
|
|
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)
|
rs72552735
|
|
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)
|
rs763224132
|
|
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)
|
rs386134227
|
|
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)
|
rs1554088578
|
|
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)
|
rs1057516797
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.393+1G>A
|
rs1057517069
|
|
NM_003060.4(SLC22A5):c.394-1G>T
|
rs1057517106
|
|
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)
|
rs796052036
|
|
NM_003060.4(SLC22A5):c.497+1G>A
|
|
|
NM_003060.4(SLC22A5):c.497+2T>A
|
rs1752229268
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)
|
rs1022453298
|
|
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)
|
rs1437174685
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.653-2A>C
|
rs386134201
|
|
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)
|
rs72552728
|
|
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)
|
rs2126783802
|
|
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)
|
rs386134209
|
|
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)
|
rs1555757738
|
|
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)
|
rs1342399494
|
|
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)
|
rs1568419675
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)
|
rs2144009190
|
|
NM_003114.5(SPAG1):c.1282_1294del (p.Ala428fs)
|
rs973819096
|
|
NM_003114.5(SPAG1):c.1285_1294dup (p.Ala432fs)
|
rs918324226
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
|
|
|
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
|
rs539524312
|
|
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
|
|
|
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
|
|
|
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
|
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)
|
rs863224229
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
NM_003172.4(SURF1):c.754_755del
|
rs782007828
|
|
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
|
rs864309500
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
NM_003193.5(TBCE):c.464T>A (p.Ile155Asn)
|
rs780472451
|
|
NM_003193.5(TBCE):c.636_639del (p.Asn212fs)
|
rs1226347591
|
|
NM_003235.5(TG):c.5509_5518del (p.Lys1837fs)
|
rs1554681801
|
|
NM_003235.5(TG):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter)
|
rs1656706610
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)
|
rs1553303352
|
|
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
|
|
|
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro)
|
rs2125437095
|
|
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)
|
rs863223854
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His)
|
rs1553630174
|
|
NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)
|
rs767030473
|
|
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)
|
rs374661051
|
|
NM_003383.5(VLDLR):c.826C>T (p.Arg276Ter)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)
|
rs1555189038
|
|
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs)
|
rs1555188704
|
|
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)
|
rs1555188518
|
|
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)
|
rs1555187869
|
|
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)
|
rs1555185875
|
|
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)
|
rs398123724
|
|
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)
|
rs886041404
|
|
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3])
|
rs398123725
|
|
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)
|
rs267607237
|
|
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)
|
rs1565756106
|
|
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)
|
rs1422752351
|
|
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)
|
rs398123744
|
|
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)
|
rs1555195118
|
|
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)
|
rs1555193912
|
|
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)
|
rs1555193738
|
|
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter)
|
rs1592138822
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs)
|
rs1555192437
|
|
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)
|
rs1555191203
|
|
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)
|
rs587783729
|
|
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)
|
rs793888512
|
|
NM_003560.4(PLA2G6):c.1186+1G>A
|
rs761815070
|
|
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp)
|
rs1235695530
|
|
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
|
|
|
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
|
|
|
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
|
rs387906863
|
|
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter)
|
rs775386225
|
|
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)
|
rs587784361
|
|
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs)
|
rs1692335353
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
|
|
|
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
|
|
|
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
|
|
|
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)
|
rs121908834
|
|
NM_003705.5(SLC25A12):c.1468C>T (p.Arg490Ter)
|
rs762189046
|
|
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)
|
rs1276619385
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003718.5(CDK13):c.3073C>T (p.Arg1025Ter)
|
rs1562767666
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003721.4(RFXANK):c.481del (p.Leu161fs)
|
rs2146492780
|
|
NM_003722.5(TP63):c.1007G>A (p.Gly336Asp)
|
rs2108806204
|
|
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)
|
rs113993967
|
|
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)
|
rs121908841
|
|
NM_003722.5(TP63):c.517G>C (p.Gly173Arg)
|
rs1057521750
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
|
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)
|
rs794729649
|
|
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
|
|
|
NM_003764.4(STX11):c.645dup (p.Arg216fs)
|
|
|
NM_003764.4(STX11):c.83C>A (p.Ser28Ter)
|
rs143547259
|
|
NM_003801.4(GPAA1):c.1256C>G (p.Ser419Ter)
|
rs372939605
|
|
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)
|
rs1011464708
|
|
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)
|
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)
|
rs754643632
|
|
NM_003906.5(MCM3AP):c.5278dup (p.Arg1760fs)
|
rs763090302
|
|
NM_003907.3(EIF2B5):c.203T>C (p.Leu68Ser)
|
rs113994044
|
|
NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)
|
|
|
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)
|
rs113994060
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
|
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
|
|
|
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)
|
rs1064794321
|
|
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter)
|
rs774206954
|
|
NM_003922.4(HERC1):c.9742C>T (p.Arg3248Ter)
|
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)
|
rs2139383552
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)
|
rs386833812
|
|
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)
|
rs2038690553
|
|
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)
|
rs1414333836
|
|
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
|
|
|
NM_003982.4(SLC7A7):c.625+1G>C
|
rs386833822
|
|
NM_003982.4(SLC7A7):c.625+1G>T
|
rs386833822
|
|
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)
|
|
|
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)
|
rs386833823
|
|
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)
|
rs2038664064
|
|
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)
|
rs2139394686
|
|
NM_003982.4(SLC7A7):c.770+1del
|
rs2139394672
|
|
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)
|
rs2138663895
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
NM_003982.4(SLC7A7):c.895-2A>G
|
rs146582474
|
|
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)
|
rs2038594225
|
|
NM_003982.4(SLC7A7):c.998+1G>T
|
rs386833828
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)
|
rs763572195
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)
|
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.576del (p.Val193fs)
|
rs747847191
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
NM_004006.3(DMD):c.1283del (p.Asn428fs)
|
rs2059643357
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
NM_004006.3(DMD):c.354G>A (p.Trp118Ter)
|
rs2148849959
|
|
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)
|
rs146880270
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004181.5(UCHL1):c.64dup (p.Val22fs)
|
rs1781001592
|
|
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)
|
rs886041142
|
|
NM_004183.4(BEST1):c.1100+1G>C
|
rs1434513582
|
|
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs)
|
rs752521456
|
|
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)
|
rs281865204
|
|
NM_004183.4(BEST1):c.244C>G (p.Leu82Val)
|
rs281865530
|
|
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg)
|
rs1225032182
|
|
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)
|
rs281865238
|
|
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)
|
rs267606677
|
|
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg)
|
rs1941503926
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)
|
rs886039311
|
|
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)
|
rs281865255
|
|
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)
|
rs1805143
|
|
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
|
rs370032584
|
|
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
|
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)
|
|
|
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter)
|
rs2130712164
|
|
NM_004260.4(RECQL4):c.2889del (p.Pro965fs)
|
rs1586795973
|
|
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter)
|
rs868635592
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)
|
rs751365374
|
|
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
|
|
|
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)
|
rs397507484
|
|
NM_004341.5(CAD):c.98T>G (p.Met33Arg)
|
rs751610198
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
NM_004360.5(CDH1):c.49-1G>C
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
|
rs1555742221
|
|
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)
|
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004425.4(ECM1):c.233del (p.Pro78fs)
|
rs768474010
|
|
NM_004431.5(EPHA2):c.2826-9G>A
|
rs886041412
|
|
NM_004444.5(EPHB4):c.1609C>T (p.Gln537Ter)
|
rs2116435260
|
|
NM_004444.5(EPHB4):c.2353C>T (p.Arg785Ter)
|
|
|
NM_004444.5(EPHB4):c.896C>G (p.Ser299Ter)
|
rs964985310
|
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
|
|
|
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)
|
rs1369800014
|
|
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)
|
rs2126309189
|
|
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)
|
rs863224869
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)
|
rs749085653
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)
|
rs121964956
|
|
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
|
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
NM_004523.4(KIF11):c.1280del (p.Gly427fs)
|
rs1589600660
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)
|
rs1555144459
|
|
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)
|
rs886039176
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_004612.4(TGFBR1):c.974-2A>G
|
rs1554701881
|
|
NM_004614.5(TK2):c.688del (p.Ala230fs)
|
rs2144339644
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
|
rs886063896
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
|
NM_004656.4(BAP1):c.2012del (p.Tyr671fs)
|
|
|
NM_004656.4(BAP1):c.592del (p.Glu198fs)
|
rs1205668341
|
|
NM_004656.4(BAP1):c.793_817dup (p.Thr273fs)
|
|
|
NM_004663.5(RAB11A):c.461C>T (p.Ser154Leu)
|
|
|
NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp)
|
rs2148320413
|
|
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)
|
rs1648636515
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004744.5(LRAT):c.139C>T (p.Arg47Ter)
|
rs779996159
|
|
NM_004744.5(LRAT):c.217_218del (p.Met73fs)
|
rs1560870755
|
|
NM_004744.5(LRAT):c.459dup (p.Tyr154fs)
|
rs765063151
|
|
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
|
|
|
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)
|
rs2129629942
|
|
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)
|
rs769676029
|
|
NM_004820.5(CYP7B1):c.730A>T (p.Lys244Ter)
|
|
|
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)
|
rs1594986869
|
|
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)
|
rs140451304
|
|
NM_004928.3(CFAP410):c.443_444del (p.Glu148fs)
|
rs756970705
|
|
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
|
|
|
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
|
rs376042415
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)
|
rs869312666
|
|
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met)
|
rs1557739557
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)
|
rs1553181257
|
|
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)
|
rs1649509389
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
|
|
|
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)
|
rs1984243311
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)
|
rs1555178616
|
|
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)
|
rs748551786
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004999.4(MYO6):c.737A>G (p.His246Arg)
|
rs121912560
|
|
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)
|
rs587777389
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005032.7(PLS3):c.1290dup (p.Gln431fs)
|
rs2147585558
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
NM_005157.6(ABL1):c.760G>A (p.Gly254Arg)
|
rs1831099962
|
|
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)
|
rs1064797219
|
|
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu)
|
rs1553657429
|
|
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
|
rs786205005
|
|
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro)
|
rs2138661213
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro)
|
rs1555321353
|
|
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)
|
|
|
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
|
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)
|
rs377767331
|
|
NM_005359.6(SMAD4):c.894del (p.Gly299fs)
|
rs2144429392
|
|
NM_005378.6(MYCN):c.1177C>T (p.Arg393Cys)
|
rs104893647
|
|
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)
|
rs121909063
|
|
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)
|
rs878853224
|
|
NM_005430.4(WNT1):c.999_1021del (p.Thr336fs)
|
rs1941014492
|
|
NM_005461.5(MAFB):c.206C>T (p.Ser69Leu)
|
rs1555826433
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)
|
rs372079931
|
|
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)
|
rs145838142
|
|
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter)
|
|
|
NM_005535.3(IL12RB1):c.599del (p.Leu200fs)
|
rs1169002203
|
|
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)
|
rs1057517353
|
|
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)
|
rs1946499901
|
|
NM_005591.4(MRE11):c.1112dup (p.Gly372fs)
|
rs1591681273
|
|
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
|
|
|
NM_005591.4(MRE11):c.1143del (p.Phe381fs)
|
rs863224508
|
|
NM_005591.4(MRE11):c.1222dup (p.Thr408fs)
|
rs774440500
|
|
NM_005591.4(MRE11):c.1441del (p.Thr481fs)
|
rs747832587
|
|
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
|
|
|
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
|
|
|
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)
|
rs876660186
|
|
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)
|
rs2134840569
|
|
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)
|
rs779269083
|
|
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)
|
rs786202253
|
|
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)
|
rs1157413766
|
|
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
|
|
|
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)
|
rs1565228898
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
|
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
|
rs1557045267
|
|
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)
|
rs1557043770
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
NM_005677.4(COLQ):c.1129del (p.Asp377fs)
|
rs1559511788
|
|
NM_005677.4(COLQ):c.1225dup (p.His409fs)
|
rs1559510978
|
|
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
|
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_005677.4(COLQ):c.54_57del (p.Ile20fs)
|
rs771879602
|
|
NM_005677.4(COLQ):c.57dup (p.Ile20fs)
|
rs777102590
|
|
NM_005726.6(TSFM):c.34_37dup (p.Ala13fs)
|
rs1458612288
|
|
NM_005732.4(RAD50):c.1636-2A>G
|
rs1554098466
|
|
NM_005732.4(RAD50):c.1794-1G>T
|
rs587781742
|
|
NM_005732.4(RAD50):c.756+2T>G
|
rs764122619
|
|
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter)
|
rs869312183
|
|
NM_005857.5(ZMPSTE24):c.1019G>A (p.Trp340Ter)
|
rs1402953071
|
|
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)
|
rs1581036015
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)
|
rs1376334317
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
|
|
|
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs)
|
rs1595965925
|
|
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)
|
rs1555405092
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.364G>A (p.Val122Met)
|
rs587782977
|
|
NM_005902.4(SMAD3):c.401-6G>A
|
rs745672741
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg)
|
rs863223737
|
|
NM_005902.4(SMAD3):c.803G>A (p.Arg268His)
|
rs863223740
|
|
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)
|
rs863223750
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
NM_005912.3(MC4R):c.418del (p.Leu140fs)
|
rs2143966828
|
|
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)
|
rs1644092513
|
|
NM_005957.5(MTHFR):c.474A>T (p.Gly158=)
|
rs199476142
|
|
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)
|
rs483352911
|
|
NM_005993.4(TBCD):c.1150_1171del
|
rs751754677
|
|
NM_005993.5(TBCD):c.230A>G (p.His77Arg)
|
rs1409600874
|
|
NM_006005.3(WFS1):c.1289C>A (p.Ser430Ter)
|
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg)
|
rs373862003
|
|
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)
|
rs28937894
|
|
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)
|
rs28937893
|
|
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)
|
rs760171298
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)
|
rs1064794257
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
NM_006005.3(WFS1):c.937C>T (p.His313Tyr)
|
rs886044563
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006017.3(PROM1):c.1234del (p.Tyr412fs)
|
rs1460604134
|
|
NM_006017.3(PROM1):c.1301+1G>A
|
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.1578+1G>A
|
rs1553901823
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
|
rs151020551
|
|
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer)
|
rs2147963975
|
|
NM_006031.6(PCNT):c.8544del (p.Ala2849fs)
|
rs1266152010
|
|
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)
|
rs749464576
|
|
NM_006063.3(KLHL41):c.215del (p.Lys72fs)
|
rs775513051
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)
|
rs1057517908
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile)
|
rs797045074
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)
|
rs767399782
|
|
NM_006129.5(BMP1):c.208C>T (p.Gln70Ter)
|
rs1422817588
|
|
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)
|
rs769068305
|
|
NM_006147.4(IRF6):c.133del (p.Arg45fs)
|
rs1571986293
|
|
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)
|
rs1553248641
|
|
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter)
|
rs1057520738
|
|
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter)
|
rs781699886
|
|
NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer)
|
rs1236291370
|
|
NM_006204.4(PDE6C):c.2367+1_2367+5del
|
rs796051871
|
|
NM_006231.4(POLE):c.1A>G (p.Met1Val)
|
rs878854847
|
|
NM_006231.4(POLE):c.2091del (p.Leu698fs)
|
rs752846614
|
|
NM_006231.4(POLE):c.2731del (p.Gln911fs)
|
rs1555226051
|
|
NM_006231.4(POLE):c.2T>C (p.Met1Thr)
|
rs879254126
|
|
NM_006231.4(POLE):c.3264_3275+13del
|
rs761516512
|
|
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer)
|
rs1555225201
|
|
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)
|
rs758487568
|
|
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs)
|
rs1593733806
|
|
NM_006231.4(POLE):c.5265del (p.Ile1756fs)
|
rs1555222342
|
|
NM_006231.4(POLE):c.6538del (p.Ala2180fs)
|
rs1566308645
|
|
NM_006231.4(POLE):c.6565_6568del (p.Asn2189fs)
|
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)
|
rs869320691
|
|
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)
|
rs140016178
|
|
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)
|
rs750542962
|
|
NM_006269.2(RP1):c.2025dup (p.Ser676fs)
|
rs1365669334
|
|
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)
|
rs104894083
|
|
NM_006269.2(RP1):c.2161del (p.Gly723fs)
|
rs755429480
|
|
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)
|
rs1585563283
|
|
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)
|
rs1554519555
|
|
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter)
|
rs775731489
|
|
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter)
|
rs1488237523
|
|
NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)
|
|
|
NM_006269.2(RP1):c.2700dup (p.Pro901fs)
|
rs797044735
|
|
NM_006269.2(RP1):c.458dup (p.Arg154fs)
|
rs781249059
|
|
NM_006269.2(RP1):c.668del (p.Gly223fs)
|
rs1231321479
|
|
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
|
rs1556887759
|
|
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)
|
rs1556886124
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_006343.3(MERTK):c.992_993del (p.Ser331fs)
|
rs1573613491
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)
|
rs972668240
|
|
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)
|
rs1405064021
|
|
NM_006390.4(IPO8):c.2900-1G>A
|
rs1243135564
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)
|
rs1197928094
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)
|
rs483352893
|
|
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)
|
rs1555345616
|
|
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met)
|
rs1911391944
|
|
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)
|
rs1555550617
|
|
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)
|
rs121434240
|
|
NM_006445.4(PRPF8):c.6991del (p.Glu2331fs)
|
rs1910994795
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.276-2A>G
|
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)
|
rs2064742925
|
|
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)
|
rs483352838
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.950_951dup (p.Gly318fs)
|
rs1470210640
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)
|
rs746746116
|
|
NM_006579.3(EBP):c.293C>T (p.Ser98Phe)
|
rs2147154765
|
|
NM_006618.5(KDM5B):c.3841C>T (p.Arg1281Ter)
|
rs866525850
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
NM_006623.4(PHGDH):c.290+2T>C
|
rs886041874
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
NM_006623.4(PHGDH):c.901del (p.Val301fs)
|
rs1571013274
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006721.4(ADK):c.564del (p.Thr190fs)
|
|
|
NM_006767.4(LZTR1):c.1005_1012del (p.Glu336fs)
|
rs753474547
|
|
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)
|
rs761956867
|
|
NM_006767.4(LZTR1):c.1149+1G>A
|
rs767191322
|
|
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter)
|
rs752547717
|
|
NM_006767.4(LZTR1):c.150_151del (p.Val51fs)
|
rs1194536394
|
|
NM_006767.4(LZTR1):c.1698C>A (p.Cys566Ter)
|
|
|
NM_006767.4(LZTR1):c.1887_1888insAG (p.Arg630fs)
|
rs1924776706
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
NM_006767.4(LZTR1):c.2113C>T (p.Gln705Ter)
|
rs778396468
|
|
NM_006767.4(LZTR1):c.2127dup (p.Ile710fs)
|
|
|
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs)
|
rs1231204217
|
|
NM_006767.4(LZTR1):c.2347dup (p.Thr783fs)
|
|
|
NM_006767.4(LZTR1):c.2404_2405delinsTTGG (p.Lys802fs)
|
rs1601723893
|
|
NM_006767.4(LZTR1):c.2412dup (p.Lys805fs)
|
rs1924895839
|
|
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)
|
rs587777613
|
|
NM_006767.4(LZTR1):c.352dup (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.438del (p.Lys147fs)
|
rs1555927613
|
|
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
|
|
|
NM_006767.4(LZTR1):c.628dup (p.Arg210fs)
|
rs1457594219
|
|
NM_006767.4(LZTR1):c.677del (p.Pro226fs)
|
|
|
NM_006767.4(LZTR1):c.677dup (p.Ser227fs)
|
rs777054968
|
|
NM_006767.4(LZTR1):c.774del (p.Phe258fs)
|
rs780267761
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
|
|
|
NM_006767.4(LZTR1):c.955del (p.Gln319fs)
|
rs1386054181
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
|
rs1761021165
|
|
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
|
rs1060503383
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
NM_006785.4(MALT1):c.926_929delGAAG
|
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn)
|
rs2143171648
|
|
NM_006852.6(TLK2):c.2089C>T (p.Arg697Ter)
|
rs1568027692
|
|
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)
|
rs28931605
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006915.3(RP2):c.2T>C (p.Met1Thr)
|
rs797044561
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
|
|
|
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter)
|
rs760061071
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
|
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)
|
rs267608671
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_007103.4(NDUFV1):c.296G>A (p.Trp99Ter)
|
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_007186.6(CEP250):c.2647del (p.Glu883fs)
|
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.444+2T>C
|
rs560596101
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007215.4(POLG2):c.420del (p.Asp142fs)
|
rs1555669548
|
|
NM_007217.4(PDCD10):c.584dup (p.Asn195fs)
|
rs1559941903
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
NM_007289.4(MME):c.2050C>T (p.Gln684Ter)
|
rs200678412
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007294.3(BRCA1):c.81-?_134+?del
|
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)
|
rs1555587638
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
NM_007294.4(BRCA1):c.4484+5G>C
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5333-3T>G
|
rs397509265
|
|
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
|
rs1555574739
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
rs80358030
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.933del (p.Gly312fs)
|
rs1135401839
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala)
|
rs1393555703
|
|
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val)
|
rs2131299136
|
|
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)
|
rs781053477
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_012144.4(DNAI1):c.1063+1G>A
|
rs1268770869
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
|
|
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg)
|
rs80358299
|
|
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)
|
rs80358303
|
|
NM_012193.4(FZD4):c.1513C>T (p.Gln505Ter)
|
rs80358304
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
NM_012208.4(HARS2):c.324T>G (p.Tyr108Ter)
|
|
|
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu)
|
rs1179555424
|
|
NM_012233.3(RAB3GAP1):c.1185_1186del (p.Gly396fs)
|
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)
|
rs772475341
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
NM_012434.5(SLC17A5):c.294_310del
|
|
|
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)
|
rs772039085
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)
|
rs779548058
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)
|
rs1057516601
|
|
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)
|
rs779494716
|
|
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)
|
rs761761205
|
|
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)
|
rs769220870
|
|
NM_013247.5(HTRA2):c.346dup (p.Ala116fs)
|
|
|
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)
|
rs765106259
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
|
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)
|
rs2151701893
|
|
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
|
|
|
NM_013296.5(GPSM2):c.1080_1081del (p.Glu361fs)
|
rs1353848256
|
|
NM_013296.5(GPSM2):c.742del (p.Gly249fs)
|
rs528069912
|
|
NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs)
|
rs886043378
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
|
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter)
|
rs568942029
|
|
NM_013432.5(TONSL):c.529C>T (p.Gln177Ter)
|
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys)
|
rs556400279
|
|
NM_014049.5(ACAD9):c.1030-1G>A
|
rs773586510
|
|
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs)
|
rs746312225
|
|
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
|
|
|
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)
|
rs1694125419
|
|
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
|
rs1694331040
|
|
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
|
rs1313658611
|
|
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs)
|
rs1574443257
|
|
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)
|
rs766777011
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)
|
rs1555791268
|
|
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)
|
rs1757906798
|
|
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)
|
|
|
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)
|
|
|
NM_014249.4(NR2E3):c.1095C>G (p.Pro365=)
|
|
|
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)
|
rs377257254
|
|
NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly)
|
rs774102273
|
|
NM_014249.4(NR2E3):c.95G>A (p.Trp32Ter)
|
rs2054172807
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)
|
rs2138045987
|
|
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
|
|
|
NM_014252.4(SLC25A15):c.408del (p.Met137fs)
|
rs780201405
|
|
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)
|
rs1566123619
|
|
NM_014252.4(SLC25A15):c.498del (p.Leu167fs)
|
rs2138056689
|
|
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)
|
rs1480063127
|
|
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs)
|
rs1882233400
|
|
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)
|
rs141028076
|
|
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)
|
rs202247805
|
|
NM_014254.3(RXYLT1):c.123_150del (p.Leu43fs)
|
rs748590408
|
|
NM_014254.3(RXYLT1):c.641del (p.Phe214fs)
|
rs1354951198
|
|
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
|
rs140179068
|
|
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)
|
rs1007096305
|
|
NM_014270.5(SLC7A9):c.49C>T (p.Gln17Ter)
|
rs1394513127
|
|
NM_014270.5(SLC7A9):c.956_957dup (p.Thr320fs)
|
rs770340227
|
|
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)
|
rs2146021370
|
|
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)
|
rs749803238
|
|
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter)
|
rs779716535
|
|
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)
|
rs878853282
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
|
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)
|
rs751881283
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
|
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp)
|
rs786205680
|
|
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter)
|
rs2142767103
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014491.4(FOXP2):c.1371del (p.Thr458fs)
|
rs1554440713
|
|
NM_014585.6(SLC40A1):c.238G>A (p.Gly80Ser)
|
rs978427853
|
|
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del)
|
rs878854984
|
|
NM_014585.6(SLC40A1):c.533G>A (p.Arg178Gln)
|
rs1449300685
|
|
NM_014625.4(NPHS2):c.1032del (p.Phe344fs)
|
rs1673229720
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)
|
rs1490010141
|
|
NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter)
|
rs776321294
|
|
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer)
|
rs1484807480
|
|
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter)
|
rs774547622
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)
|
rs1060500653
|
|
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs)
|
rs2149877962
|
|
NM_014822.4(SEC24D):c.2977C>T (p.Arg993Ter)
|
|
|
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs)
|
rs1359602238
|
|
NM_014844.5(TECPR2):c.1751del (p.Gly584fs)
|
rs1345546964
|
|
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs)
|
rs1595123894
|
|
NM_014844.5(TECPR2):c.2829del (p.Asn944fs)
|
rs1889895576
|
|
NM_014844.5(TECPR2):c.774del (p.Asp259fs)
|
rs772483312
|
|
NM_014915.3(ANKRD26):c.-118C>T
|
rs1589393759
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
NM_014946.4(SPAST):c.1174-1G>A
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
NM_014946.4(SPAST):c.1245+6T>G
|
rs1553317050
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)
|
rs1553318223
|
|
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)
|
rs864622268
|
|
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)
|
rs1553318347
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
|
rs864622162
|
|
NM_014946.4(SPAST):c.1616+1G>A
|
rs1553319327
|
|
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)
|
rs1553321270
|
|
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)
|
rs746263735
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
NM_014967.5(FAN1):c.922_923del (p.Val308fs)
|
rs774499986
|
|
NM_015047.3(EMC1):c.1134C>A (p.Tyr378Ter)
|
rs778470143
|
|
NM_015047.3(EMC1):c.1978C>T (p.Arg660Ter)
|
rs201271494
|
|
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs)
|
rs869320624
|
|
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter)
|
rs1555344661
|
|
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs)
|
rs1595168879
|
|
NM_015087.5(SPART):c.696dup (p.Val233fs)
|
|
|
NM_015087.5(SPART):c.776del (p.Asp259fs)
|
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)
|
rs990536521
|
|
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)
|
rs1064796146
|
|
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)
|
rs752401295
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
|
rs1190463308
|
|
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)
|
rs1057518016
|
|
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter)
|
rs2140192948
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
NM_015378.4(VPS13D):c.10818_10821del (p.Gly3607fs)
|
|
|
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)
|
rs1557680919
|
|
NM_015404.4(WHRN):c.856dup (p.Asp286fs)
|
rs1064794551
|
|
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)
|
rs779686052
|
|
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)
|
rs780936436
|
|
NM_015466.4(PTPN23):c.1081_1082del (p.Val361fs)
|
rs2107717354
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015559.3(SETBP1):c.2017_2018del (p.Lys673fs)
|
rs1599367726
|
|
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)
|
rs1178702025
|
|
NM_015599.3(PGM3):c.378dup (p.Arg127Ter)
|
rs2128506370
|
|
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs)
|
rs763778803
|
|
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)
|
rs868193249
|
|
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)
|
rs1201229554
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_015629.4(PRPF31):c.239-2A>G
|
rs1600334904
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015665.6(AAAS):c.500C>A (p.Ala167Glu)
|
rs1017700992
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015909.4(NBAS):c.130del (p.Gln44fs)
|
rs1064795199
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
NM_015909.4(NBAS):c.6316del (p.Arg2106fs)
|
rs1064795471
|
|
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)
|
rs1595625010
|
|
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)
|
rs1595625099
|
|
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)
|
rs2039539459
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)
|
rs587784224
|
|
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)
|
rs762662276
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016035.5(COQ4):c.402+1G>A
|
rs747779231
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
|
|
|
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His)
|
rs760780597
|
|
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)
|
rs116887602
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
|
rs866179648
|
|
NM_016239.4(MYO15A):c.1318del (p.Asp440fs)
|
|
|
NM_016239.4(MYO15A):c.1603del (p.Leu535fs)
|
rs762110822
|
|
NM_016239.4(MYO15A):c.3006del (p.Lys1003fs)
|
rs1162296750
|
|
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
|
|
|
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His)
|
rs2046512154
|
|
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)
|
rs878853227
|
|
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del)
|
rs1555546699
|
|
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
|
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016580.4(PCDH12):c.309del (p.Cys104fs)
|
rs1753206427
|
|
NM_016648.4(LARP7):c.1077_1078del (p.His359fs)
|
|
|
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)
|
rs775657157
|
|
NM_016648.4(LARP7):c.1213dup (p.Thr405fs)
|
rs750946801
|
|
NM_016648.4(LARP7):c.1620_1623del (p.Ala542fs)
|
rs755439936
|
|
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)
|
rs761656636
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_017433.5(MYO3A):c.4341_4344del (p.Asn1447fs)
|
|
|
NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs)
|
rs757660866
|
|
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer)
|
rs773432148
|
|
NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter)
|
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)
|
rs1554727954
|
|
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)
|
rs184469579
|
|
NM_017721.5(CC2D1A):c.2176C>T (p.Arg726Ter)
|
rs754855261
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter)
|
rs780953224
|
|
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter)
|
rs1554593049
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
|
rs121434338
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
NM_017780.4(CHD7):c.3379-2A>C
|
rs864622523
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)
|
rs773047607
|
|
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
|
|
|
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
|
rs1563669432
|
|
NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter)
|
rs1254052531
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017875.4(SLC25A38):c.122_123del (p.Ser41fs)
|
|
|
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)
|
rs869320719
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017934.7(PHIP):c.40+1del
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
|
|
|
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs)
|
rs761752580
|
|
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs)
|
rs1567811487
|
|
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs)
|
rs1567818236
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.248+1G>A
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)
|
rs1227163239
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
|
|
|
NM_018076.5(ODAD2):c.2800-2A>G
|
rs1297261096
|
|
NM_018105.3(THAP1):c.482_485del (p.Lys161fs)
|
rs2128918440
|
|
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter)
|
rs2128918641
|
|
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
|
|
|
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)
|
rs1483600034
|
|
NM_018129.4(PNPO):c.448_451del (p.Pro150fs)
|
rs796052872
|
|
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)
|
rs146027425
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs)
|
rs1403868262
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
|
|
|
NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)
|
rs1575612023
|
|
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter)
|
rs185005213
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs)
|
rs1436269510
|
|
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter)
|
rs749343808
|
|
NM_018474.6(KIZ):c.116del (p.Lys39fs)
|
rs1486270427
|
|
NM_018474.6(KIZ):c.251_258del (p.Phe84fs)
|
rs1254494198
|
|
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)
|
rs1665684529
|
|
NM_018684.4(ZC4H2):c.225+5G>A
|
rs1057520298
|
|
NM_018699.4(PRDM5):c.1132del (p.Cys378fs)
|
|
|
NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)
|
rs1461665171
|
|
NM_019032.6(ADAMTSL4):c.2270del (p.Gly757fs)
|
rs747160538
|
|
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter)
|
rs1057518098
|
|
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
|
rs1596261268
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
|
rs776990436
|
|
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)
|
rs772429581
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
|
|
|
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
|
|
|
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)
|
rs1311374961
|
|
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)
|
rs2108441513
|
|
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
|
rs1712230544
|
|
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)
|
rs1311139055
|
|
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)
|
rs1177891822
|
|
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)
|
rs2108526606
|
|
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
|
|
|
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)
|
rs1553862845
|
|
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
|
|
|
NM_020207.7(ERCC6L2):c.1051_1054del (p.Ala351fs)
|
rs1829586683
|
|
NM_020223.4(FAM20C):c.1135G>A (p.Gly379Arg)
|
|
|
NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs)
|
rs1064795060
|
|
NM_020320.5(RARS2):c.42del (p.Arg15fs)
|
rs777942571
|
|
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)
|
rs1739469293
|
|
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)
|
rs745741473
|
|
NM_020366.4(RPGRIP1):c.3618-1_3621del
|
rs1594280740
|
|
NM_020366.4(RPGRIP1):c.673del (p.His225fs)
|
rs752263228
|
|
NM_020442.6(VARS2):c.1087C>T (p.Arg363Ter)
|
|
|
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)
|
rs779162837
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs)
|
rs760024638
|
|
NM_020533.3(MCOLN1):c.1135-1G>C
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)
|
rs1555741548
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)
|
rs1057516602
|
|
NM_020533.3(MCOLN1):c.608del (p.Pro203fs)
|
|
|
NM_020533.3(MCOLN1):c.680+1G>A
|
rs1599254152
|
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
|
|
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
|
|
|
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp)
|
rs28937882
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs)
|
rs769139957
|
|
NM_020778.5(ALPK3):c.1438del (p.Arg480fs)
|
rs1963653131
|
|
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)
|
rs777315336
|
|
NM_020778.5(ALPK3):c.386_389del (p.Thr129fs)
|
rs1596149339
|
|
NM_020778.5(ALPK3):c.3884G>A (p.Trp1295Ter)
|
rs2141570234
|
|
NM_020778.5(ALPK3):c.423del
|
rs1555434555
|
|
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)
|
rs1450218521
|
|
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs)
|
rs2141574028
|
|
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs)
|
rs2141556264
|
|
NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
|
|
|
NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter)
|
rs2141556463
|
|
NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
|
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)
|
rs1057522978
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
|
rs1568107449
|
|
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)
|
rs372940918
|
|
NM_020975.6(RET):c.1858T>A (p.Cys620Ser)
|
rs77316810
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu)
|
rs1590017652
|
|
NM_021008.4(DEAF1):c.781C>T (p.Arg261Ter)
|
rs778326610
|
|
NM_021008.4(DEAF1):c.926del (p.Leu309fs)
|
rs1417226023
|
|
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)
|
rs587777498
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)
|
rs2151665554
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021800.3(DNAJC12):c.410_413del (p.Lys137fs)
|
rs1443792358
|
|
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp)
|
rs1159929268
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021926.4(ALX4):c.254del (p.Gly85fs)
|
rs1064795941
|
|
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)
|
rs759415592
|
|
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)
|
rs864309691
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_021975.4(RELA):c.706C>T (p.Arg236Ter)
|
rs1856484601
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022124.6(CDH23):c.2984del (p.Phe995fs)
|
rs1554858698
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)
|
rs796051989
|
|
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)
|
rs147903984
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
NM_022132.5(MCCC2):c.739del
|
rs1463802125
|
|
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
|
|
|
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
|
rs119103221
|
|
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)
|
rs140468248
|
|
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
|
|
|
NM_022356.4(P3H1):c.1839-2A>C
|
rs755665899
|
|
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)
|
rs72659356
|
|
NM_022356.4(P3H1):c.2131dup (p.Leu711fs)
|
rs1570452407
|
|
NM_022356.4(P3H1):c.572del (p.Gly191fs)
|
|
|
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)
|
|
|
NM_022436.3(ABCG5):c.978del (p.Glu326fs)
|
rs869025350
|
|
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys)
|
rs199553576
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.5304-1G>C
|
rs863224905
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
rs200247054
|
|
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)
|
rs267606878
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs)
|
rs1558665485
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
|
|
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
|
NM_022786.3(ARV1):c.518dup (p.Pro174fs)
|
rs544784472
|
|
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)
|
rs143697995
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|
NM_024120.5(NDUFAF5):c.183_190dup (p.Glu64fs)
|
|
|
NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs)
|
rs1555834773
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs)
|
rs748809942
|
|
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)
|
rs112543062
|
|
NM_024312.5(GNPTAB):c.1408+1G>T
|
rs1060499680
|
|
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)
|
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs)
|
rs752874974
|
|
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter)
|
rs779927550
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter)
|
rs1952995212
|
|
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter)
|
rs1952987753
|
|
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter)
|
rs1257678960
|
|
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)
|
rs281864955
|
|
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)
|
rs281864963
|
|
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter)
|
rs1953165554
|
|
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter)
|
rs1953155445
|
|
NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)
|
rs771237928
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)
|
rs786205124
|
|
NM_024596.5(MCPH1):c.321del (p.Lys107fs)
|
rs759663956
|
|
NM_024649.5(BBS1):c.1110+3G>C
|
rs762276925
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.432+1G>A
|
rs587777829
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.109-12T>A
|
rs774949203
|
|
NM_024675.4(PALB2):c.109-2A>G
|
rs730881897
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs)
|
rs1555461280
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1709_1710del (p.Glu570fs)
|
rs1597091425
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
NM_024675.4(PALB2):c.1A>G (p.Met1Val)
|
rs879254144
|
|
NM_024675.4(PALB2):c.2020_2021del (p.Asp674fs)
|
rs2142383242
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2109_2112del (p.Leu703fs)
|
rs2142380816
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2747_2748+4del
|
rs786203892
|
|
NM_024675.4(PALB2):c.2748+1G>A
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>C
|
rs753153576
|
|
NM_024675.4(PALB2):c.2748+1G>T
|
rs753153576
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2835-1G>C
|
rs515726099
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)
|
rs875989792
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.2T>C (p.Met1Thr)
|
rs756519825
|
|
NM_024675.4(PALB2):c.2T>G (p.Met1Arg)
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)
|
rs1555458828
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
NM_024675.4(PALB2):c.3201+1G>C
|
rs587776423
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)
|
rs1567206756
|
|
NM_024675.4(PALB2):c.3350+1G>A
|
rs864622192
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3425del (p.Leu1142fs)
|
rs1057517563
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)
|
rs1597061983
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)
|
|
|
NM_024675.4(PALB2):c.3G>A (p.Met1Ile)
|
rs1057517585
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
NM_024675.4(PALB2):c.48G>A (p.Lys16=)
|
rs587776405
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.693dup (p.Gly232fs)
|
rs875989791
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)
|
rs1060499831
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024678.6(NARS2):c.160C>T (p.Arg54Ter)
|
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)
|
rs1951753208
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
NM_024747.6(HPS6):c.1054_1055del (p.Arg352fs)
|
|
|
NM_024747.6(HPS6):c.1692dup (p.Phe565fs)
|
rs1384342700
|
|
NM_024747.6(HPS6):c.706_707del (p.Ser236fs)
|
rs756471925
|
|
NM_024818.6(UBA5):c.799C>T (p.Gln267Ter)
|
rs762779162
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter)
|
|
|
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)
|
rs768112611
|
|
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter)
|
rs752037355
|
|
NM_024996.7(GFM1):c.690_693del
|
rs778902849
|
|
NM_025009.5(CEP135):c.3144_3147del (p.His1048fs)
|
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025074.7(FRAS1):c.8353del (p.Val2785fs)
|
|
|
NM_025103.4(IFT74):c.106C>T (p.Arg36Ter)
|
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
|
rs1418873962
|
|
NM_025137.4(SPG11):c.5148dup (p.His1717fs)
|
rs1422477670
|
|
NM_025137.4(SPG11):c.5175del (p.Ala1726fs)
|
rs1060499768
|
|
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
|
rs1323156960
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
|
rs2082401685
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)
|
rs1555446078
|
|
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)
|
rs778305085
|
|
NM_025193.4(HSD3B7):c.890del (p.Phe297fs)
|
rs886043511
|
|
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter)
|
rs895175332
|
|
NM_025216.3(WNT10A):c.694del (p.Arg232fs)
|
rs1575233692
|
|
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)
|
rs773036759
|
|
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
|
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_030943.4(AMN):c.1006+34_1007-31del
|
rs386834161
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)
|
rs1243587288
|
|
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)
|
rs1562882049
|
|
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)
|
rs515726204
|
|
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)
|
rs754216321
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_031924.8(RSPH3):c.-260dup
|
rs751193355
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032119.4(ADGRV1):c.1176_1179del (p.Leu393fs)
|
rs1166741724
|
|
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs)
|
rs1400695342
|
|
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs)
|
rs1759155995
|
|
NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter)
|
rs1057520080
|
|
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs)
|
rs727504644
|
|
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs)
|
rs778288846
|
|
NM_032119.4(ADGRV1):c.6245_6249del (p.Thr2082fs)
|
|
|
NM_032119.4(ADGRV1):c.6786_6790delinsCGGTGG (p.Thr2264fs)
|
rs1746377687
|
|
NM_032119.4(ADGRV1):c.8347G>T (p.Glu2783Ter)
|
|
|
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs)
|
rs1749485242
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys)
|
rs12799308
|
|
NM_032228.6(FAR1):c.1439G>A (p.Arg480His)
|
rs1057517926
|
|
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
|
rs1596520443
|
|
NM_032581.4(HYCC1):c.722T>G (p.Leu241Ter)
|
rs2128200575
|
|
NM_032607.3(CREB3L3):c.523C>T (p.Arg175Ter)
|
rs531932249
|
|
NM_032608.7(MYO18B):c.1385_1386del (p.Glu462fs)
|
rs1485101622
|
|
NM_032608.7(MYO18B):c.530del (p.Pro177fs)
|
rs748007891
|
|
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)
|
rs760848629
|
|
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter)
|
rs746967719
|
|
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe)
|
rs142164373
|
|
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)
|
rs376003468
|
|
NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)
|
|
|
NM_033026.6(PCLO):c.1839_1840delinsAA (p.Cys613_Gln614delinsTer)
|
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs)
|
rs771473483
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)
|
rs746356243
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_033163.5(FGF8):c.318del (p.Glu107fs)
|
|
|
NM_033305.3(VPS13A):c.4956+1G>A
|
rs1085307823
|
|
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)
|
rs748828128
|
|
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)
|
rs1555194026
|
|
NM_033380.3(COL4A5):c.1032+3_1032+6del
|
rs104886314
|
|
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp)
|
rs104886125
|
|
NM_033380.3(COL4A5):c.1779+1G>A
|
rs104886337
|
|
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp)
|
rs281874683
|
|
NM_033380.3(COL4A5):c.2294del (p.Pro765fs)
|
rs2066735315
|
|
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser)
|
rs104886174
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del)
|
rs1556421106
|
|
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)
|
rs104886374
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3490G>T (p.Gly1164Cys)
|
rs1057518125
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.385-2A>G
|
rs2066062676
|
|
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val)
|
rs1569488946
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_033409.4(SLC52A3):c.753del (p.Val252fs)
|
rs1568721373
|
|
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs)
|
rs746470735
|
|
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs)
|
rs759150616
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs)
|
rs2132146546
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)
|
rs541633673
|
|
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)
|
rs786201003
|
|
NM_053274.3(GLMN):c.743dup (p.Leu248fs)
|
rs754756178
|
|
NM_053274.3(GLMN):c.844_847del (p.Leu282fs)
|
rs773060450
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_054027.6(ANKH):c.1142-4A>G
|
rs1579998709
|
|
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)
|
rs1380822792
|
|
NM_057175.5(NAA15):c.1841dup (p.Asn614fs)
|
rs1283385686
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)
|
rs2148850717
|
|
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)
|
|
|
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter)
|
rs1417182811
|
|
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
|
|
|
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)
|
rs374156844
|
|
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)
|
rs121912947
|
|
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs)
|
|
|
NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)
|
|
|
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter)
|
rs764450149
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)
|
rs727503394
|
|
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)
|
rs762550967
|
|
NM_130810.4(DNAAF4):c.523del (p.Ile175fs)
|
rs751610886
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
|
rs794727069
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2984-1_2986del
|
rs2109460398
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)
|
rs587781234
|
|
NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)
|
rs1951433087
|
|
NM_130849.4(SLC39A4):c.493C>T (p.Gln165Ter)
|
rs1057523837
|
|
NM_130849.4(SLC39A4):c.947_948dup (p.Val317fs)
|
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His)
|
rs587784020
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)
|
rs149648640
|
|
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)
|
rs202036979
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)
|
rs796052088
|
|
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)
|
rs1886427331
|
|
NM_138691.3(TMC1):c.332G>A (p.Trp111Ter)
|
rs1345926328
|
|
NM_138691.3(TMC1):c.741+1G>A
|
rs1588067173
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)
|
rs1446729264
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10411del (p.Val3471fs)
|
rs1554183588
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter)
|
rs1057516345
|
|
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)
|
rs1554183240
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.10893_10894del (p.Tyr3631_Arg3632delinsTer)
|
rs1554183204
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.11776del (p.Val3926fs)
|
rs1057517324
|
|
NM_138694.4(PKHD1):c.11785+1G>T
|
rs1488844530
|
|
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter)
|
rs1554229312
|
|
NM_138694.4(PKHD1):c.1205del (p.Phe402fs)
|
rs1057517178
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
|
rs1582013246
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2590del (p.Arg864fs)
|
rs1057516709
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg)
|
rs773136605
|
|
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs)
|
rs774250209
|
|
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs)
|
rs1057516922
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.3463_3464dup (p.Gln1155fs)
|
rs1554200778
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.390+1del
|
rs1554227162
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4141del (p.Val1381fs)
|
rs778537772
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
|
rs1464962854
|
|
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)
|
rs1057516691
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs)
|
rs1057517220
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
|
rs1791765505
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter)
|
rs1057516768
|
|
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter)
|
rs1057516751
|
|
NM_138694.4(PKHD1):c.7713del (p.His2572fs)
|
rs1057517078
|
|
NM_138694.4(PKHD1):c.7912-1G>A
|
rs1160209891
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.8677dup (p.His2893fs)
|
rs1554221465
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
|
rs1582053820
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)
|
rs1554218666
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)
|
rs757099749
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)
|
rs1114167303
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_139027.6(ADAMTS13):c.1393_1394del (p.Ala465fs)
|
rs1564422441
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)
|
rs1555563717
|
|
NM_139276.3(STAT3):c.994C>T (p.His332Tyr)
|
rs2144827923
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144666.3(DNHD1):c.1855del (p.Asp619fs)
|
|
|
NM_144672.4(OTOA):c.2102del (p.Ile701fs)
|
|
|
NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)
|
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144991.3(TSPEAR):c.1178del (p.Pro393fs)
|
|
|
NM_144991.3(TSPEAR):c.1493_1494delinsTG (p.Gly498Val)
|
rs2145961078
|
|
NM_144991.3(TSPEAR):c.1676_1677del (p.Tyr559fs)
|
rs781890406
|
|
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs)
|
rs1569151872
|
|
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter)
|
rs587717339
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)
|
rs1555611494
|
|
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
NM_144997.7(FLCN):c.250-1G>A
|
rs786202081
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_145200.3(CABP4):c.800_801delAG
|
rs786205249
|
|
NM_145207.3(AFG2A):c.1810C>T (p.Gln604Ter)
|
rs373156651
|
|
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)
|
rs768528444
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_152383.5(DIS3L2):c.2302del (p.Leu768fs)
|
|
|
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)
|
rs1441475659
|
|
NM_152383.5(DIS3L2):c.48del (p.Arg17fs)
|
rs2106220804
|
|
NM_152383.5(DIS3L2):c.645del (p.Cys216fs)
|
rs1328362747
|
|
NM_152383.5(DIS3L2):c.733C>T (p.Arg245Ter)
|
rs199648534
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
|
NM_152416.4(NDUFAF6):c.561C>G (p.Tyr187Ter)
|
rs1085307635
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)
|
rs202126574
|
|
NM_152443.3(RDH12):c.488del (p.Lys163fs)
|
rs2038193754
|
|
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)
|
rs761167763
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
|
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
|
|
|
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)
|
rs794729650
|
|
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)
|
rs2038232911
|
|
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)
|
rs751589863
|
|
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
|
|
|
NM_152443.3(RDH12):c.812_813del (p.Ala271fs)
|
rs2140151036
|
|
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)
|
rs200387832
|
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)
|
rs1554581504
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)
|
rs1354326532
|
|
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
|
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)
|
rs1588811810
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
|
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)
|
rs2130679206
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)
|
rs864622410
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)
|
rs1554341671
|
|
NM_153006.3(NAGS):c.1097-2A>G
|
rs2049106256
|
|
NM_153006.3(NAGS):c.310del (p.Arg104fs)
|
|
|
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)
|
rs2049079486
|
|
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)
|
rs755257734
|
|
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
|
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.841_848del (p.Ser281fs)
|
rs1064797153
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)
|
rs886041300
|
|
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro)
|
rs762065937
|
|
NM_173076.3(ABCA12):c.2273dup (p.Leu758fs)
|
rs1064794286
|
|
NM_173076.3(ABCA12):c.2296C>T (p.Gln766Ter)
|
rs772046102
|
|
NM_173477.5(USH1G):c.1311del (p.Lys438fs)
|
rs886043626
|
|
NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs)
|
rs1195644432
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter)
|
rs1057517224
|
|
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His)
|
rs143394031
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly)
|
rs1553135971
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln)
|
rs1555816615
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_176787.5(PIGN):c.1258del (p.Leu420fs)
|
rs1555685797
|
|
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter)
|
rs376226764
|
|
NM_176787.5(PIGN):c.1790del (p.Phe597fs)
|
rs1599531710
|
|
NM_177438.3(DICER1):c.1509+16A>G
|
rs201947254
|
|
NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp)
|
rs1595414866
|
|
NM_177438.3(DICER1):c.1752+213A>G
|
|
|
NM_177438.3(DICER1):c.238G>T (p.Glu80Ter)
|
rs1595466234
|
|
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe)
|
rs387906934
|
|
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs)
|
rs1890722878
|
|
NM_177438.3(DICER1):c.5096-12G>A
|
rs1566750865
|
|
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly)
|
rs886037729
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_177924.5(ASAH1):c.457+4A>G
|
rs767864356
|
|
NM_178012.5(TUBB2B):c.1228G>A (p.Glu410Lys)
|
rs2113818881
|
|
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)
|
rs2087613070
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
|
|
NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_181458.4(PAX3):c.668G>T (p.Arg223Leu)
|
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_181507.2(HPS5):c.2375del (p.Glu792fs)
|
|
|
NM_182476.3(COQ6):c.1153_1154del (p.Asp385fs)
|
rs1064796212
|
|
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
|
rs1421066733
|
|
NM_182760.4(SUMF1):c.279del (p.Ile94fs)
|
rs2125134167
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
|
|
|
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)
|
rs2127965290
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
|
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)
|
rs1554181192
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)
|
rs1380402024
|
|
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)
|
rs940391887
|
|
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)
|
rs2127727924
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.343+2T>G
|
rs1554184237
|
|
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
|
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)
|
rs398124581
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)
|
rs1410520713
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)
|
rs1210649507
|
|
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)
|
rs1057516572
|
|
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)
|
rs1554194690
|
|
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)
|
rs1774369632
|
|
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
|
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)
|
rs2127698980
|
|
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)
|
rs1224101411
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|
NM_183065.4(TMEM107):c.*622G>C
|
rs201266955
|
|
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs)
|
rs759033144
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
|
rs104894497
|
|
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)
|
rs767481076
|
|
NM_183357.3(ADCY5):c.1262C>A (p.Ser421Ter)
|
|
|
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)
|
rs796065306
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
|
rs200864338
|
|
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
|
|
|
NM_194248.3(OTOF):c.4961-1G>A
|
rs2148024902
|
|
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter)
|
rs1487432642
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter)
|
rs111033447
|
|
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln)
|
rs1332489637
|
|
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)
|
rs727505359
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)
|
rs1563240592
|
|
NM_198129.4(LAMA3):c.5061C>A (p.Cys1687Ter)
|
rs2144862529
|
|
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)
|
rs727502799
|
|
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)
|
rs769824247
|
|
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)
|
rs1561482476
|
|
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)
|
rs752158933
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs)
|
rs762662896
|
|
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
|
|
|
NM_198576.4(AGRN):c.667dup (p.Leu223fs)
|
rs1644909838
|
|
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs)
|
rs1554101202
|
|
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter)
|
rs1554101224
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_198904.4(GABRG2):c.471del (p.Ala158fs)
|
rs1554097890
|
|
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
|
rs1045493304
|
|
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu)
|
rs1581453572
|
|
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys)
|
rs1390117240
|
|
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)
|
rs755348845
|
|
NM_199242.3(UNC13D):c.2448-13G>A
|
rs753762300
|
|
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)
|
rs1274685768
|
|
NM_199242.3(UNC13D):c.2709+1G>A
|
rs1555600214
|
|
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter)
|
rs121434352
|
|
NM_199292.2(TH):c.-70G>A
|
rs1372180906
|
|
NM_199355.4(ADAMTS18):c.1048C>T (p.Gln350Ter)
|
rs935159456
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)
|
rs878853364
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)
|
rs878853371
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.71del (p.Asn24fs)
|
rs1654722914
|
|
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)
|
rs121908462
|
|
NM_201548.5(CERKL):c.239-1G>A
|
rs1559100465
|
|
NM_203486.3(DLL3):c.529_535del (p.Arg177fs)
|
rs1452482256
|
|
NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg)
|
rs1057517995
|
|
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
|
|
|
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
|
|
|
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
|
rs111033379
|
|
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)
|
rs111033418
|
|
NM_206933.4(USH2A):c.12294+1G>C
|
rs111033526
|
|
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met)
|
rs527236137
|
|
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter)
|
rs111033417
|
|
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg)
|
rs397517990
|
|
NM_206933.4(USH2A):c.14583-1G>T
|
|
|
NM_206933.4(USH2A):c.14791+4A>G
|
rs1408904076
|
|
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
|
rs1656646221
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)
|
rs1438734382
|
|
NM_206933.4(USH2A):c.2809+2T>A
|
rs1553320397
|
|
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter)
|
rs2034938852
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs)
|
rs747891004
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)
|
rs397518021
|
|
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer)
|
rs111033268
|
|
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp)
|
rs727503723
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
|
rs780036975
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
|
|
|
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)
|
rs751070095
|
|
NM_207346.3(TSEN54):c.547C>T (p.Gln183Ter)
|
rs1555644470
|
|
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)
|
|
|
NM_207361.6(FREM2):c.5954dup (p.Met1985fs)
|
rs886043213
|
|
NM_213607.3(CCDC103):c.289dup (p.Leu97fs)
|
|
|
Single allele
|
|
|