NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00091
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser)
|
rs199610919
|
0.00046
|
NM_001378609.3(OTOGL):c.6019+5G>A
|
rs368712763
|
0.00046
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)
|
rs144159890
|
0.00036
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_001089.3(ABCA3):c.418A>C (p.Asn140His)
|
rs45447801
|
0.00032
|
NM_183065.4(TMEM107):c.*638C>T
|
rs368022715
|
0.00032
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln)
|
rs117071200
|
0.00024
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00019
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)
|
rs138065338
|
0.00018
|
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)
|
rs200099217
|
0.00016
|
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu)
|
rs145888229
|
0.00016
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp)
|
rs766079334
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_016955.4(SEPSECS):c.548-1G>A
|
rs200041461
|
0.00014
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
NM_000237.3(LPL):c.286G>C (p.Val96Leu)
|
rs373088068
|
0.00013
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu)
|
rs546495818
|
0.00013
|
NM_001737.5(C9):c.355T>G (p.Cys119Gly)
|
rs121909593
|
0.00013
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)
|
rs369010851
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_001081.4(CUBN):c.348+2T>C
|
rs146047781
|
0.00012
|
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp)
|
rs200752089
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)
|
rs551548107
|
0.00011
|
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)
|
rs376968326
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001363711.2(DUOX2):c.2922-14_2925del
|
rs760031457
|
0.00011
|
NM_006017.3(PROM1):c.2490-2A>G
|
rs375813885
|
0.00011
|
NM_020632.3(ATP6V0A4):c.1029+5G>A
|
rs147476317
|
0.00011
|
NM_022041.4(GAN):c.944C>T (p.Pro315Leu)
|
rs144486241
|
0.00011
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_145886.4(PIDD1):c.2042-2A>G
|
rs199752248
|
0.00010
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001378609.3(OTOGL):c.236-2A>G
|
rs766564988
|
0.00009
|
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)
|
rs1321621475
|
0.00009
|
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser)
|
rs201230315
|
0.00009
|
NM_020117.11(LARS1):c.2770-2A>G
|
rs139456270
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)
|
rs61754056
|
0.00008
|
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)
|
rs139660235
|
0.00008
|
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)
|
rs184758570
|
0.00008
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_014639.4(SKIC3):c.642+1G>A
|
rs538894487
|
0.00008
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_015559.3(SETBP1):c.487-1G>A
|
rs147805077
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr)
|
rs745803719
|
0.00006
|
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile)
|
rs966434923
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)
|
rs201789348
|
0.00006
|
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)
|
rs149988492
|
0.00006
|
NM_001256545.2(MEGF10):c.2857-2A>G
|
rs199750143
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00006
|
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)
|
rs778665661
|
0.00006
|
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)
|
rs141045127
|
0.00006
|
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys)
|
rs191828237
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)
|
rs782056388
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
NM_000017.4(ACADS):c.1157G>A (p.Arg386His)
|
rs766183395
|
0.00005
|
NM_000022.4(ADA):c.757C>T (p.Arg253Trp)
|
rs201944717
|
0.00005
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)
|
rs759208930
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro)
|
rs369238198
|
0.00005
|
NM_021930.6(RINT1):c.1333+1G>A
|
rs375350359
|
0.00005
|
NM_022098.4(XPNPEP3):c.856-2A>G
|
rs149609214
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
|
rs149107232
|
0.00004
|
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)
|
rs778514103
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000063.6(C2):c.1360+1G>A
|
rs140225293
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)
|
rs121909791
|
0.00004
|
NM_000400.4(ERCC2):c.1377+2T>C
|
rs201505264
|
0.00004
|
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr)
|
rs370454709
|
0.00004
|
NM_000436.4(OXCT1):c.1099+2T>C
|
rs202242762
|
0.00004
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys)
|
rs145087576
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)
|
rs188135164
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001031710.3(KLHL7):c.793+5G>C
|
rs375718274
|
0.00004
|
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp)
|
rs138249238
|
0.00004
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln)
|
rs138700741
|
0.00004
|
NM_001330078.2(NRXN1):c.772+1032G>A
|
rs771759988
|
0.00004
|
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)
|
rs139463637
|
0.00004
|
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)
|
rs201329683
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg)
|
rs373046759
|
0.00004
|
NM_002437.5(MPV17):c.263A>T (p.Lys88Met)
|
rs756530281
|
0.00004
|
NM_002439.5(MSH3):c.1341-1G>T
|
rs61754780
|
0.00004
|
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)
|
rs386134221
|
0.00004
|
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys)
|
rs765322804
|
0.00004
|
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro)
|
rs777525949
|
0.00004
|
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser)
|
rs373386030
|
0.00004
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
NM_133459.4(CCBE1):c.916-2A>G
|
rs367990953
|
0.00004
|
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp)
|
rs764992976
|
0.00004
|
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His)
|
rs202203360
|
0.00004
|
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)
|
rs782088056
|
0.00004
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_176869.3(PPA2):c.379C>T (p.Arg127Cys)
|
rs372302682
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)
|
rs374211312
|
0.00004
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00003
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
|
rs554945964
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_000335.5(SCN5A):c.393-1C>T
|
rs759235726
|
0.00003
|
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His)
|
rs368016280
|
0.00003
|
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys)
|
rs553776104
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys)
|
rs370654268
|
0.00003
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)
|
rs140037232
|
0.00003
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00003
|
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly)
|
rs193922822
|
0.00003
|
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)
|
rs193922761
|
0.00003
|
NM_001079866.2(BCS1L):c.551G>A (p.Arg184His)
|
rs779504946
|
0.00003
|
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser)
|
rs370301695
|
0.00003
|
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)
|
rs747583441
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)
|
rs369484186
|
0.00003
|
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)
|
rs145043679
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_001374736.1(DST):c.16609-1G>T
|
rs766657292
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)
|
rs139464953
|
0.00003
|
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)
|
rs373704405
|
0.00003
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
0.00003
|
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)
|
rs370677625
|
0.00003
|
NM_001851.6(COL9A1):c.876+1G>C
|
rs202232444
|
0.00003
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
NM_002340.6(LSS):c.1194+5G>A
|
rs748758448
|
0.00003
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp)
|
rs201917359
|
0.00003
|
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser)
|
rs1033490064
|
0.00003
|
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)
|
rs765385264
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_006059.4(LAMC3):c.976+1G>C
|
rs201519274
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg)
|
rs368222811
|
0.00003
|
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)
|
rs769448704
|
0.00003
|
NM_018105.3(THAP1):c.238A>G (p.Ile80Val)
|
rs372080941
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)
|
rs374911318
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032520.5(GNPTG):c.742-1G>T
|
rs373976323
|
0.00003
|
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala)
|
rs752666494
|
0.00003
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)
|
rs772014118
|
0.00002
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00002
|
NM_000069.3(CACNA1S):c.1948+1G>A
|
rs745712829
|
0.00002
|
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)
|
rs371784007
|
0.00002
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)
|
rs121912827
|
0.00002
|
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His)
|
rs756258247
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000143.4(FH):c.2T>G (p.Met1Arg)
|
rs201261794
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu)
|
rs730880158
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu)
|
rs769176363
|
0.00002
|
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)
|
rs200870056
|
0.00002
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
NM_000448.3(RAG1):c.1981_1983del (p.Met661del)
|
rs774103837
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)
|
rs759500310
|
0.00002
|
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln)
|
rs372513400
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001025356.3(ANO6):c.1880+1G>A
|
rs371269172
|
0.00002
|
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro)
|
rs759857078
|
0.00002
|
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)
|
rs778585043
|
0.00002
|
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp)
|
rs781030242
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
0.00002
|
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)
|
rs749798053
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val)
|
rs374990723
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)
|
rs752009614
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002296.4(LBR):c.1756C>T (p.Arg586Cys)
|
rs199675363
|
0.00002
|
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)
|
rs765290711
|
0.00002
|
NM_002662.5(PLD1):c.2543+1G>T
|
rs779667018
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
NM_003849.4(SUCLG1):c.825+1G>A
|
rs750388794
|
0.00002
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)
|
rs372068015
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
NM_007289.4(MME):c.1914+1G>A
|
rs1003705057
|
0.00002
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)
|
rs750340477
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro)
|
rs757148837
|
0.00002
|
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala)
|
rs890884615
|
0.00002
|
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)
|
rs55940927
|
0.00002
|
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)
|
rs765235486
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_194248.3(OTOF):c.5713-2A>G
|
rs111033455
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_207346.3(TSEN54):c.370-2A>G
|
rs762922379
|
0.00002
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)
|
rs875989854
|
0.00001
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)
|
rs183161718
|
0.00001
|
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu)
|
rs369167716
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)
|
rs1416443472
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)
|
rs142765230
|
0.00001
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.851G>A (p.Arg284His)
|
rs369359375
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
NM_000048.4(ASL):c.1136G>A (p.Arg379His)
|
rs200853731
|
0.00001
|
NM_000048.4(ASL):c.281G>A (p.Arg94His)
|
rs777437569
|
0.00001
|
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)
|
rs909358635
|
0.00001
|
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)
|
rs750431938
|
0.00001
|
NM_000049.4(ASPA):c.432G>A (p.Lys144=)
|
rs754087904
|
0.00001
|
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)
|
rs1014551540
|
0.00001
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)
|
rs767670019
|
0.00001
|
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)
|
rs1315805984
|
0.00001
|
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)
|
rs876659735
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)
|
rs1017756733
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)
|
rs776848753
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)
|
rs201627041
|
0.00001
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)
|
rs1291948462
|
0.00001
|
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)
|
rs1386495377
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu)
|
rs1233025207
|
0.00001
|
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)
|
rs377182638
|
0.00001
|
NM_000098.3(CPT2):c.1115A>G (p.His372Arg)
|
rs1212235186
|
0.00001
|
NM_000128.4(F11):c.1103G>C (p.Gly368Ala)
|
rs748926718
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000143.4(FH):c.151C>T (p.Arg51Trp)
|
rs778678782
|
0.00001
|
NM_000143.4(FH):c.1A>G (p.Met1Val)
|
rs776806414
|
0.00001
|
NM_000143.4(FH):c.405T>G (p.His135Gln)
|
rs1298815479
|
0.00001
|
NM_000143.4(FH):c.908T>C (p.Leu303Ser)
|
rs201502246
|
0.00001
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)
|
rs777589783
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000163.5(GHR):c.504T>G (p.His168Gln)
|
rs121909373
|
0.00001
|
NM_000169.3(GLA):c.596T>C (p.Val199Ala)
|
rs781871113
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu)
|
rs770736746
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr)
|
rs193922388
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)
|
rs397516259
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
0.00001
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn)
|
rs1455447337
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
0.00001
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser)
|
rs753925314
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NM_000306.4(POU1F1):c.143-2A>G
|
rs746709336
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
NM_000330.4(RS1):c.554C>T (p.Thr185Met)
|
rs61753173
|
0.00001
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys)
|
rs749864465
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp)
|
rs147932486
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser)
|
rs867875828
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
0.00001
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)
|
rs775661924
|
0.00001
|
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)
|
rs760481450
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
NM_000360.4(TH):c.604C>T (p.Arg202Cys)
|
rs1021029193
|
0.00001
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
0.00001
|
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)
|
rs376342597
|
0.00001
|
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)
|
rs1035033641
|
0.00001
|
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)
|
rs750609110
|
0.00001
|
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)
|
rs1250956327
|
0.00001
|
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)
|
rs727504072
|
0.00001
|
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)
|
rs148425972
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)
|
rs200621180
|
0.00001
|
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)
|
rs527640350
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met)
|
rs1282255458
|
0.00001
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)
|
rs869320650
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp)
|
rs878854025
|
0.00001
|
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln)
|
rs762278203
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)
|
rs1316999782
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_001034116.2(EIF2B4):c.1191+2T>C
|
rs751867352
|
0.00001
|
NM_001038603.3(MARVELD2):c.1147-2A>G
|
rs763062791
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00001
|
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)
|
rs757605946
|
0.00001
|
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)
|
rs748547209
|
0.00001
|
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)
|
rs1041531529
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)
|
rs761853610
|
0.00001
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)
|
rs369224273
|
0.00001
|
NM_001177701.3(IFT27):c.234+1G>A
|
rs1159774355
|
0.00001
|
NM_001194998.2(CEP152):c.88-2A>G
|
rs537376932
|
0.00001
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg)
|
rs1209791630
|
0.00001
|
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His)
|
rs761839551
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)
|
rs142213147
|
0.00001
|
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)
|
rs1354718634
|
0.00001
|
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)
|
rs368644722
|
0.00001
|
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001374828.1(ARID1B):c.3236-1G>A
|
rs752642190
|
0.00001
|
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His)
|
rs756155678
|
0.00001
|
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser)
|
rs1179536054
|
0.00001
|
NM_001846.4(COL4A2):c.1012-1G>A
|
rs1224451609
|
0.00001
|
NM_001846.4(COL4A2):c.1776+1G>A
|
rs886039602
|
0.00001
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)
|
rs80356784
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met)
|
rs759190964
|
0.00001
|
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His)
|
rs780724170
|
0.00001
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro)
|
rs372365287
|
0.00001
|
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)
|
rs772578415
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003896.4(ST3GAL5):c.82+1G>C
|
rs878854615
|
0.00001
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
|
rs104894403
|
0.00001
|
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)
|
rs1378679640
|
0.00001
|
NM_004092.4(ECHS1):c.712G>C (p.Ala238Pro)
|
rs142639185
|
0.00001
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)
|
rs141407224
|
0.00001
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_004614.5(TK2):c.310C>T (p.Arg104Cys)
|
rs1194187379
|
0.00001
|
NM_004614.5(TK2):c.497A>T (p.Asp166Val)
|
rs921593414
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)
|
rs149271416
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
|
rs373197800
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)
|
rs200688214
|
0.00001
|
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)
|
rs567563179
|
0.00001
|
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys)
|
rs753071702
|
0.00001
|
NM_006231.4(POLE):c.2562-2A>C
|
rs751662353
|
0.00001
|
NM_006231.4(POLE):c.5812-1G>T
|
rs1296022681
|
0.00001
|
NM_006231.4(POLE):c.6658-2A>G
|
rs751217859
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His)
|
rs139412383
|
0.00001
|
NM_006767.4(LZTR1):c.1261-2A>G
|
rs759240190
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)
|
rs762521317
|
0.00001
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)
|
rs548769905
|
0.00001
|
NM_014254.3(RXYLT1):c.914+6T>G
|
rs748809209
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_015338.6(ASXL1):c.141-2A>G
|
rs768868045
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His)
|
rs1486994359
|
0.00001
|
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys)
|
rs749812958
|
0.00001
|
NM_017534.6(MYH2):c.5472+1G>A
|
rs758888662
|
0.00001
|
NM_018006.5(TRMU):c.2T>G (p.Met1Arg)
|
rs118203992
|
0.00001
|
NM_018668.5(VPS33B):c.96+1G>T
|
rs1567232168
|
0.00001
|
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg)
|
rs748354081
|
0.00001
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020451.3(SELENON):c.1501-1G>A
|
rs750138587
|
0.00001
|
NM_020533.3(MCOLN1):c.681-19A>C
|
rs768736321
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020738.4(KIDINS220):c.3585+1G>A
|
rs775189420
|
0.00001
|
NM_020778.5(ALPK3):c.182+1G>A
|
rs1963449829
|
0.00001
|
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)
|
rs1064795812
|
0.00001
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
rs387907219
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)
|
rs764158202
|
0.00001
|
NM_021942.6(TRAPPC11):c.3189+1G>A
|
rs1170374164
|
0.00001
|
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn)
|
rs750452808
|
0.00001
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)
|
rs878855081
|
0.00001
|
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)
|
rs1481471124
|
0.00001
|
NM_032608.7(MYO18B):c.3775+1G>C
|
rs539007966
|
0.00001
|
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser)
|
rs930190521
|
0.00001
|
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala)
|
rs1252928330
|
0.00001
|
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys)
|
rs267606683
|
0.00001
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
NM_080680.3(COL11A2):c.939+1G>A
|
rs750173113
|
0.00001
|
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr)
|
rs1229349983
|
0.00001
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys)
|
rs794727759
|
0.00001
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
NM_144573.4(NEXN):c.688-1G>C
|
rs761030548
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)
|
rs373735128
|
0.00001
|
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00001
|
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)
|
rs142111099
|
0.00001
|
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)
|
rs398123523
|
0.00001
|
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln)
|
rs1445637165
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)
|
rs1162305984
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
|
rs1448376709
|
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
|
rs1647188699
|
|
NM_000016.6(ACADM):c.388-19T>A
|
rs1553123252
|
|
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
|
rs1260394550
|
|
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
|
rs1647485086
|
|
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)
|
rs983879715
|
|
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)
|
rs202078273
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
|
|
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
|
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)
|
rs2071346777
|
|
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)
|
rs751995154
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)
|
rs1452402269
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
|
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)
|
rs2071252145
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000022.4(ADA):c.1078+2T>C
|
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
|
rs750844090
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000038.6(APC):c.834G>A (p.Gln278=)
|
rs1060503261
|
|
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)
|
rs1399124034
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)
|
rs1786857910
|
|
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
|
|
|
NM_000048.4(ASL):c.503G>A (p.Arg168His)
|
rs727503811
|
|
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)
|
rs143508372
|
|
NM_000048.4(ASL):c.675C>G (p.Ile225Met)
|
rs1554327265
|
|
NM_000048.4(ASL):c.718+5G>A
|
rs869312990
|
|
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe)
|
rs199565861
|
|
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu)
|
rs1335267315
|
|
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)
|
rs1555538144
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)
|
rs587780639
|
|
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
|
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
|
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
|
rs1555283946
|
|
NM_000059.4(BRCA2):c.425+1G>A
|
rs587782590
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000069.3(CACNA1S):c.4113+1G>A
|
rs1558056376
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)
|
rs946415346
|
|
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg)
|
rs1085307995
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
|
|
|
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)
|
rs1982750491
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000081.4(LYST):c.7460+3_7460+6del
|
|
|
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val)
|
rs2153502692
|
|
NM_000091.5(COL4A3):c.2657-1G>T
|
rs373324875
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)
|
rs920061910
|
|
NM_000092.5(COL4A4):c.2438G>A (p.Gly813Glu)
|
rs2150251009
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys)
|
rs886043613
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.214A>C (p.Thr72Pro)
|
rs886039362
|
|
NM_000143.4(FH):c.452T>A (p.Met151Lys)
|
rs1660099266
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000143.4(FH):c.988A>C (p.Thr330Pro)
|
rs776313200
|
|
NM_000143.4(FH):c.998G>A (p.Cys333Tyr)
|
rs1553341032
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000153.4(GALC):c.136G>C (p.Asp46His)
|
rs751975987
|
|
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)
|
rs750431739
|
|
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
|
rs1884501856
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)
|
rs1417389111
|
|
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)
|
rs1555749927
|
|
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)
|
rs121434373
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.1247A>C (p.His416Pro)
|
rs1583591303
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
NM_000162.5(GCK):c.595G>A (p.Val199Met)
|
rs1554335417
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
rs1602348876
|
|
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)
|
rs1555986305
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)
|
rs1569479909
|
|
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
|
|
|
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
|
|
|
NM_000215.4(JAK3):c.1915-1G>A
|
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
|
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
NM_000255.4(MMUT):c.912-1G>A
|
rs1561957527
|
|
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly)
|
rs727503188
|
|
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu)
|
rs730880569
|
|
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr)
|
rs606231332
|
|
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)
|
rs730880757
|
|
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)
|
rs1555078946
|
|
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)
|
rs1555090196
|
|
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr)
|
rs117966637
|
|
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)
|
rs751242455
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr)
|
rs397516325
|
|
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg)
|
rs2135762079
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
NM_000271.5(NPC1):c.1327-2dup
|
rs1555636712
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)
|
rs886043514
|
|
NM_000275.3(OCA2):c.646+1G>A
|
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala)
|
rs1674489086
|
|
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
|
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
|
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)
|
rs150577656
|
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276
|
|
NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)
|
rs104894624
|
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423
|
|
NM_000312.4(PROC):c.548G>T (p.Cys183Phe)
|
rs1284942525
|
|
NM_000314.8(PTEN):c.105G>A (p.Met35Ile)
|
rs1554893782
|
|
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
|
rs786204867
|
|
NM_000314.8(PTEN):c.802-2del
|
rs886047397
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)
|
rs2152010930
|
|
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)
|
rs757988141
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)
|
rs1582764697
|
|
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)
|
rs1582759492
|
|
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
|
|
|
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys)
|
rs199473174
|
|
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro)
|
rs2061581608
|
|
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val)
|
rs794728881
|
|
NM_000335.5(SCN5A):c.4434+5G>A
|
rs1057520531
|
|
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg)
|
rs199473292
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser)
|
rs199473298
|
|
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg)
|
rs794728898
|
|
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)
|
rs199473082
|
|
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala)
|
rs2101078285
|
|
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)
|
rs1553192420
|
|
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)
|
rs398123338
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)
|
rs886046564
|
|
NM_000350.3(ABCA4):c.4859A>T (p.Asn1620Ile)
|
rs1659893012
|
|
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu)
|
rs1571250077
|
|
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)
|
rs2297669
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)
|
rs137852675
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
|
|
|
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)
|
rs121909212
|
|
NM_000360.4(TH):c.90+13G>T
|
rs77140743
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000371.4(TTR):c.259G>C (p.Gly87Arg)
|
rs11541799
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro)
|
rs1060502179
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000428.3(LTBP2):c.3652+1G>C
|
rs773910322
|
|
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)
|
rs111033207
|
|
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp)
|
rs939755872
|
|
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)
|
rs111033344
|
|
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp)
|
rs2129311246
|
|
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)
|
rs374873766
|
|
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile)
|
rs1935508894
|
|
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
|
|
|
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)
|
rs1064796435
|
|
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)
|
rs1064796929
|
|
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)
|
rs1555738724
|
|
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe)
|
rs72551360
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)
|
rs1057524727
|
|
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro)
|
rs747167000
|
|
NM_000478.6(ALPL):c.1143C>G (p.His381Gln)
|
rs749419329
|
|
NM_000478.6(ALPL):c.188G>T (p.Gly63Val)
|
rs1490668038
|
|
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)
|
rs1644512630
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
|
|
|
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)
|
rs121918018
|
|
NM_000487.6(ARSA):c.1108-3C>G
|
rs1001100248
|
|
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)
|
rs1554382664
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)
|
rs193922516
|
|
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser)
|
rs397508491
|
|
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn)
|
rs397508522
|
|
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp)
|
rs397508523
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)
|
rs753173837
|
|
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)
|
rs397508753
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
|
|
|
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
|
|
|
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr)
|
rs2146291027
|
|
NM_000518.5(HBB):c.*132C>T
|
rs1420779550
|
|
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000527.4(LDLR):c.-136C>G
|
rs879254374
|
|
NM_000527.4(LDLR):c.-149C>A
|
rs879254368
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)
|
rs869320650
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)
|
rs137943601
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly)
|
rs879254861
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp)
|
rs879254890
|
|
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)
|
rs879254897
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
NM_000527.5(LDLR):c.1577C>A (p.Pro526His)
|
rs879254944
|
|
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
|
|
|
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala)
|
rs28941776
|
|
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp)
|
rs28942082
|
|
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro)
|
rs2077475503
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe)
|
rs879255085
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)
|
rs137853964
|
|
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)
|
rs879254390
|
|
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser)
|
rs879254711
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092
|
|
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.677T>C (p.Leu226Pro)
|
rs2084786958
|
|
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr)
|
rs763259167
|
|
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu)
|
rs1568581720
|
|
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
|
|
|
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)
|
rs1568591803
|
|
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His)
|
rs1568604251
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
|
|
NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
|
|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr)
|
rs564495912
|
|
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His)
|
rs150495044
|
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
|
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)
|
rs745432757
|
|
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
|
|
|
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)
|
rs1969830618
|
|
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)
|
rs1600822174
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
|
rs202081954
|
|
NM_000545.8(HNF1A):c.1135C>T (p.Pro379Ser)
|
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000546.6(TP53):c.560-9T>A
|
rs794727781
|
|
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)
|
rs876660825
|
|
NM_000546.6(TP53):c.589G>A (p.Val197Met)
|
rs786204041
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)
|
rs28940300
|
|
NM_000553.6(WRN):c.1350+1G>T
|
rs752202315
|
|
NM_000553.6(WRN):c.1898+2T>G
|
rs772319506
|
|
NM_000553.6(WRN):c.3819+1G>C
|
rs748618811
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)
|
rs764247545
|
|
NM_000718.4(CACNA1B):c.5536+1G>A
|
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000900.5(MGP):c.56G>A (p.Cys19Tyr)
|
rs1555094473
|
|
NM_000900.5(MGP):c.56G>T (p.Cys19Phe)
|
rs1555094473
|
|
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
|
rs2072577342
|
|
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)
|
rs879254086
|
|
NM_001005373.4(LRSAM1):c.175-2A>T
|
rs1035054313
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)
|
rs1402571360
|
|
NM_001039876.3(SYNE4):c.973-2A>T
|
|
|
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)
|
rs796053121
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter)
|
rs587782716
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly)
|
rs267606814
|
|
NM_001080.3(ALDH5A1):c.1015-3C>G
|
rs2127387935
|
|
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp)
|
rs886062374
|
|
NM_001089.3(ABCA3):c.1112-20G>A
|
|
|
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)
|
rs1559655653
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
|
|
|
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
|
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
|
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)
|
rs1288870299
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly)
|
rs776513864
|
|
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)
|
|
|
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del)
|
rs770336804
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp)
|
rs1651121815
|
|
NM_001212.4(C1QBP):c.576+2T>A
|
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
NM_001256071.3(RNF213):c.14566T>C (p.Cys4856Arg)
|
rs2080231811
|
|
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)
|
rs727503492
|
|
NM_001256317.3(TMPRSS3):c.1180G>C (p.Asp394His)
|
rs111033537
|
|
NM_001256317.3(TMPRSS3):c.1333G>A (p.Glu445Lys)
|
|
|
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)
|
rs2065880189
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)
|
rs1553282768
|
|
NM_001277115.2(DNAH11):c.495+1G>T
|
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
NM_001283009.2(RTEL1):c.1266+3_1266+80del
|
rs2090574236
|
|
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)
|
rs1987287426
|
|
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys)
|
rs1286857064
|
|
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
|
|
|
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln)
|
rs1555883469
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys)
|
rs796052234
|
|
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)
|
rs1317526744
|
|
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)
|
rs201150384
|
|
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)
|
rs1406131499
|
|
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)
|
rs142808899
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)
|
rs1554033862
|
|
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)
|
rs1744309029
|
|
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
NM_001369268.1(ACAN):c.1460C>T (p.Thr487Ile)
|
rs2141585529
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001375524.1(TRRAP):c.3140G>A (p.Arg1047His)
|
rs2116495297
|
|
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val)
|
rs1565368733
|
|
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe)
|
rs1085307837
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
|
|
|
NM_001692.4(ATP6V1B1):c.367+1G>A
|
rs1343871627
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)
|
rs1565664095
|
|
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
|
|
|
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg)
|
rs2139156269
|
|
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala)
|
rs1877385413
|
|
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg)
|
rs1057519191
|
|
NM_001846.4(COL4A2):c.1287_1339+1dup
|
rs1566539998
|
|
NM_001846.4(COL4A2):c.826-1G>T
|
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
NM_001854.4(COL11A1):c.2241+5G>T
|
rs2101800665
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)
|
rs1478167106
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
NM_001876.4(CPT1A):c.693+1G>A
|
rs1055176086
|
|
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu)
|
rs1554085478
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)
|
rs1750918319
|
|
NM_002181.4(IHH):c.949G>A (p.Val317Met)
|
rs886044074
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)
|
rs1561417568
|
|
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys)
|
rs1673092558
|
|
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
|
|
|
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)
|
rs1555554139
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002772.3(TMPRSS15):c.533-2A>G
|
|
|
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)
|
rs765642157
|
|
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)
|
rs730880382
|
|
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)
|
rs1554051094
|
|
NM_002972.4(SBF1):c.897+1G>A
|
rs374026247
|
|
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
|
|
|
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
|
|
|
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)
|
rs1183338050
|
|
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)
|
rs1319889867
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
|
|
|
NM_003235.5(TG):c.3847+1G>C
|
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
|
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)
|
rs794726991
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr)
|
rs1943100257
|
|
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg)
|
rs1555185701
|
|
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly)
|
rs2148537151
|
|
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
|
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn)
|
rs1558897179
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
NM_003748.4(ALDH4A1):c.866+1G>A
|
rs78532707
|
|
NM_003977.4(AIP):c.645+2T>C
|
rs1293512916
|
|
NM_003998.4(NFKB1):c.1210+1G>A
|
rs2149203552
|
|
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser)
|
rs2137308512
|
|
NM_004004.6(GJB2):c.187G>A (p.Val63Met)
|
rs370696868
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
NM_004004.6(GJB2):c.532G>T (p.Val178Leu)
|
rs1275901105
|
|
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe)
|
rs2144178477
|
|
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
|
|
|
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)
|
rs281865531
|
|
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
|
|
|
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys)
|
rs1603223158
|
|
NM_004208.4(AIFM1):c.1020G>T (p.Met340Ile)
|
|
|
NM_004370.6(COL12A1):c.6067+1G>A
|
rs1766265062
|
|
NM_004453.4(ETFDH):c.1116+2T>C
|
rs1561247874
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
NM_004614.5(TK2):c.415G>T (p.Ala139Ser)
|
rs138479499
|
|
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)
|
rs910211860
|
|
NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val)
|
rs2148320011
|
|
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met)
|
rs1938372282
|
|
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)
|
rs776075679
|
|
NM_004999.4(MYO6):c.3137+1G>A
|
rs200713129
|
|
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)
|
rs1555321334
|
|
NM_005450.6(NOG):c.125C>T (p.Pro42Leu)
|
rs1018505000
|
|
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg)
|
rs776736207
|
|
NM_005591.4(MRE11):c.21-6_26del
|
rs587780138
|
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
|
|
NM_005732.4(RAD50):c.3753-5T>A
|
rs1581024884
|
|
NM_005732.4(RAD50):c.3763del (p.Ser1255fs)
|
rs760621534
|
|
NM_005732.4(RAD50):c.3799dup (p.Ile1267fs)
|
rs1554101324
|
|
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs)
|
rs1085307088
|
|
NM_005857.5(ZMPSTE24):c.951_954+2del
|
rs747563189
|
|
NM_005861.4(STUB1):c.832del (p.Glu278fs)
|
rs1555475529
|
|
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)
|
rs2140294164
|
|
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)
|
rs886039050
|
|
NM_005902.4(SMAD3):c.607+1G>T
|
rs1060500771
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu)
|
rs1235562712
|
|
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys)
|
rs376626985
|
|
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr)
|
|
|
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys)
|
rs760631912
|
|
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)
|
rs121434229
|
|
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro)
|
rs1064793154
|
|
NM_006147.4(IRF6):c.961G>A (p.Val321Met)
|
rs2102536882
|
|
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn)
|
rs1064797148
|
|
NM_006231.4(POLE):c.1020+1G>T
|
rs1064794748
|
|
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC
|
rs1555229232
|
|
NM_006231.4(POLE):c.205-2A>G
|
rs2043148194
|
|
NM_006231.4(POLE):c.4149+2T>C
|
rs1064796760
|
|
NM_006231.4(POLE):c.4290+1G>A
|
rs1565940214
|
|
NM_006231.4(POLE):c.4551+2_4551+3del
|
rs1251654299
|
|
NM_006231.4(POLE):c.5378+1G>T
|
rs747165215
|
|
NM_006231.4(POLE):c.5552+1G>A
|
rs1555221894
|
|
NM_006231.4(POLE):c.5553-1G>A
|
rs1064796152
|
|
NM_006231.4(POLE):c.6136+1G>T
|
rs1593708662
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)
|
rs2124448063
|
|
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)
|
rs770597592
|
|
NM_006662.3(SRCAP):c.1135-2A>G
|
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu)
|
rs1761012352
|
|
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)
|
rs1761209473
|
|
NM_006914.4(RORB):c.784T>C (p.Cys262Arg)
|
rs2118516548
|
|
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
|
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)
|
rs746647838
|
|
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys)
|
rs763261995
|
|
NM_014014.5(SNRNP200):c.1627C>T (p.Pro543Ser)
|
rs1057519143
|
|
NM_014053.4(FLVCR1):c.1593+5_1593+8del
|
rs771159212
|
|
NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)
|
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)
|
rs1703292916
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro)
|
rs2146421585
|
|
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)
|
rs864622083
|
|
NM_016111.4(TELO2):c.2291+1G>A
|
rs76038845
|
|
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
|
|
|
NM_018052.5(VAC14):c.947-2A>G
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
|
rs1808862287
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln)
|
rs61995958
|
|
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)
|
rs61995958
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.873-2A>G
|
rs1176143542
|
|
NM_020778.5(ALPK3):c.135_143+12del
|
|
|
NM_020778.5(ALPK3):c.3965+2T>C
|
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp)
|
rs377642451
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=)
|
rs542618168
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
|
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)
|
rs897911822
|
|
NM_024120.5(NDUFAF5):c.718-1G>A
|
rs1359810808
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)
|
rs141047069
|
|
NM_024675.4(PALB2):c.1684+1G>A
|
rs1555461148
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln)
|
rs752251570
|
|
NM_025103.4(IFT74):c.256+1G>C
|
|
|
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)
|
rs371334506
|
|
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln)
|
|
|
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)
|
rs1325394060
|
|
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp)
|
rs1556421658
|
|
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser)
|
rs2147982351
|
|
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)
|
rs387907150
|
|
NM_080680.3(COL11A2):c.1179+1G>A
|
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)
|
rs886043340
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
NM_133459.4(CCBE1):c.213-1G>A
|
rs201030273
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val)
|
rs200689333
|
|
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg)
|
rs727503351
|
|
NM_145331.3(MAP3K7):c.820C>T (p.Arg274Cys)
|
rs2127974439
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro)
|
rs397517927
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
NM_177924.5(ASAH1):c.998G>A (p.Arg333His)
|
rs1588974098
|
|
NM_177965.4(CFAP418):c.374+1G>C
|
|
|
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)
|
rs483353059
|
|
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
|
rs1896186645
|
|
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)
|
rs377293829
|
|
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)
|
rs1471328495
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
|
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly)
|
rs2102658767
|
|
Single allele
|
|
|