NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)
|
rs771157170
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)
|
rs780085174
|
0.00004
|
NM_006017.3(PROM1):c.1301+2T>C
|
rs775957498
|
0.00004
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)
|
rs201255508
|
0.00003
|
NM_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)
|
rs431905509
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
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.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
NM_001171.6(ABCC6):c.37-1G>A
|
rs72657702
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)
|
rs121912631
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)
|
rs751970061
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)
|
rs200788163
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_201548.5(CERKL):c.1074-1G>C
|
rs927261937
|
0.00001
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.646-2A>C
|
|
|
NM_000048.4(ASL):c.1207del (p.Val403fs)
|
rs1554328363
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000147.5(FUCA1):c.768+1G>A
|
rs1639468949
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000271.5(NPC1):c.3591+2T>C
|
rs1555631888
|
|
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1811-2A>G
|
rs1693044156
|
|
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)
|
rs1408325840
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
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.1585-2A>G
|
rs397508233
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)
|
rs397508315
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)
|
rs397508327
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.2875del (p.Ala959fs)
|
rs397508447
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)
|
rs397508496
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)
|
rs397508528
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter)
|
rs397508645
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4242+1G>A
|
rs372227120
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)
|
rs397508796
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser)
|
rs879254456
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)
|
rs879254716
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)
|
rs193922766
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter)
|
rs1417391173
|
|
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)
|
rs1468416468
|
|
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)
|
rs2122143379
|
|
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
|
|
|
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)
|
rs794729107
|
|
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)
|
rs1567861501
|
|
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)
|
rs794728006
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001077350.3(NPRL3):c.119-1G>C
|
rs2141981312
|
|
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs)
|
rs1553913019
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001171.6(ABCC6):c.4209-2A>C
|
rs1555506740
|
|
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)
|
rs1572764737
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001242896.3(DEPDC5):c.767+1G>A
|
rs2148514247
|
|
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)
|
rs111033578
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
NM_001321075.3(DLG4):c.1084-1G>T
|
rs2142844164
|
|
NM_001321075.3(DLG4):c.1478+2T>C
|
rs542036630
|
|
NM_001321075.3(DLG4):c.1592-1G>A
|
rs2142825829
|
|
NM_001321075.3(DLG4):c.1693+1G>A
|
rs2142825211
|
|
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)
|
rs2142821651
|
|
NM_001321075.3(DLG4):c.1866+2T>C
|
rs2142821543
|
|
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)
|
rs1451196379
|
|
NM_001321075.3(DLG4):c.211-2A>G
|
rs2142886707
|
|
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)
|
rs2142884433
|
|
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)
|
rs2142884288
|
|
NM_001321075.3(DLG4):c.787+2T>C
|
rs2142881946
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)
|
rs769566928
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)
|
rs797044854
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)
|
rs1057519519
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)
|
rs1553403656
|
|
NM_001379200.1(TBX1):c.711+1G>A
|
rs1731409120
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002878.4(RAD51D):c.346-1G>C
|
rs1555568386
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)
|
rs386833813
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)
|
rs387906618
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
NM_005957.5(MTHFR):c.475+1G>T
|
rs748397580
|
|
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys)
|
rs1064793286
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)
|
rs1553851860
|
|
NM_006831.3(CLP1):c.419G>A (p.Arg140His)
|
rs587777616
|
|
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)
|
rs74315515
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)
|
rs1553154062
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)
|
rs2151753260
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)
|
rs1057519283
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)
|
rs775657157
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)
|
rs752176040
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020451.3(SELENON):c.1387+1G>A
|
rs2047977957
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_022132.5(MCCC2):c.1216+2T>A
|
rs1554138265
|
|
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)
|
rs557166582
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.212-2A>C
|
rs730881879
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter)
|
rs1474604202
|
|
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)
|
rs1443687532
|
|
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
|
NM_130837.3(OPA1):c.1935+1G>C
|
rs1711518217
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)
|
rs1085307451
|
|
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)
|
rs1064796472
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp)
|
rs2102561827
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)
|
rs864309483
|
|
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
|
rs1045493304
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)
|
rs1553250952
|
|
NM_206933.4(USH2A):c.993_994del (p.Arg331fs)
|
rs1571703801
|
|
Single allele
|
|
|