NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_004562.3(PRKN):c.101_102del (p.Gln34fs)
|
rs55777503
|
0.00027
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000270.4(PNP):c.172C>T (p.Arg58Ter)
|
rs104894460
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)
|
rs137853059
|
0.00006
|
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)
|
rs752352896
|
0.00006
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)
|
rs28936701
|
0.00004
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)
|
rs769967565
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00004
|
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)
|
rs28940289
|
0.00004
|
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)
|
rs387907192
|
0.00004
|
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter)
|
rs34208370
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
|
rs202166715
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
NM_001126108.2(SLC12A3):c.1670-191C>T
|
rs374182921
|
0.00003
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_001364905.1(LRBA):c.4333C>T (p.Arg1445Ter)
|
rs764745197
|
0.00003
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)
|
rs730880963
|
0.00002
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
|
rs752148586
|
0.00002
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_006907.4(PYCR1):c.540+1G>A
|
rs752297179
|
0.00002
|
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)
|
rs781637328
|
0.00002
|
NM_176787.5(PIGN):c.963G>A (p.Gln321=)
|
rs587777187
|
0.00002
|
NM_000045.4(ARG1):c.466-1G>C
|
rs1064794165
|
0.00001
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
|
rs779440632
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)
|
rs1270523244
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
|
rs747709527
|
0.00001
|
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)
|
rs1348610360
|
0.00001
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)
|
rs387907083
|
0.00001
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)
|
rs121909105
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)
|
rs137852669
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)
|
rs386134222
|
0.00001
|
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)
|
rs764125510
|
0.00001
|
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)
|
rs794727794
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)
|
rs387906987
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
|
rs864622269
|
0.00001
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter)
|
rs121908367
|
0.00001
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter)
|
rs764883927
|
0.00001
|
NC_000002.12:g.110069919_110205214del
|
|
|
NC_000007.13:g.141443350_142460881dup
|
|
|
NC_000007.14:g.142749126_142753040dup
|
|
|
NC_000011.9:g.104288964_134937416dup
|
|
|
NC_000020.11:g.3863511_3918336del
|
|
|
NC_000022.10:g.21514655_22986816del
|
|
|
NC_000023.11:g.101398823_101398824ins(300)
|
|
|
NC_000023.11:g.155985220_155986351delinsT
|
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000037.4(ANK1):c.1717del (p.Leu573fs)
|
rs1826989524
|
|
NM_000046.5(ARSB):c.264G>T (p.Gln88His)
|
rs750947605
|
|
NM_000049.4(ASPA):c.692A>G (p.Tyr231Cys)
|
rs104894550
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)
|
rs1183423966
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)
|
rs1927036604
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000062.3(SERPING1):c.600dup (p.Lys201fs)
|
rs1590823884
|
|
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)
|
rs748289906
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.2010del (p.Gly671fs)
|
rs72651634
|
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.345del (p.Pro116fs)
|
rs749390823
|
|
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)
|
rs2149720690
|
|
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)
|
rs1601054715
|
|
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp)
|
rs2043178850
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000155.4(GALT):c.377+1G>T
|
rs111033681
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000169.3(GLA):c.718_719del (p.Lys240fs)
|
rs869312389
|
|
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)
|
rs104894832
|
|
NM_000203.5(IDUA):c.1190-10_*10del
|
|
|
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg)
|
rs2122606362
|
|
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter)
|
rs118204081
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs)
|
rs727504366
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
NM_000271.4(NPC1):c.2134_2135del
|
|
|
NM_000271.4(NPC1):c.3249_3250del
|
|
|
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
|
|
|
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)
|
rs1278305591
|
|
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
|
|
|
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
|
|
|
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
|
|
|
NM_000271.5(NPC1):c.1451del (p.Val484fs)
|
|
|
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
|
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1654+1dup
|
|
|
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
|
|
|
NM_000271.5(NPC1):c.1757+1G>T
|
|
|
NM_000271.5(NPC1):c.1757+2T>G
|
|
|
NM_000271.5(NPC1):c.1757+2_1757+3del
|
|
|
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
NM_000271.5(NPC1):c.2130+1G>C
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
|
|
|
NM_000271.5(NPC1):c.2515-2A>G
|
|
|
NM_000271.5(NPC1):c.2604+2T>G
|
|
|
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)
|
rs2058690179
|
|
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
|
|
|
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
|
|
|
NM_000271.5(NPC1):c.2719del (p.Met907fs)
|
|
|
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
|
|
|
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
|
|
|
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
|
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
|
|
|
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)
|
rs764789542
|
|
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
|
|
|
NM_000271.5(NPC1):c.3041+1G>T
|
|
|
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
|
|
|
NM_000271.5(NPC1):c.3245+1G>T
|
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
|
|
|
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
|
|
|
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
|
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
|
|
|
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
|
|
|
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
|
|
|
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
|
|
|
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
|
|
|
NM_000271.5(NPC1):c.754del (p.Gln252fs)
|
|
|
NM_000271.5(NPC1):c.762del (p.Pro255fs)
|
|
|
NM_000271.5(NPC1):c.895del (p.Val299fs)
|
|
|
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)
|
|
|
NM_000314.8(PTEN):c.210-1G>A
|
rs1114167621
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)
|
rs587782187
|
|
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del)
|
|
|
NM_000404.4(GLB1):c.1254C>G (p.Tyr418Ter)
|
rs1697338499
|
|
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)
|
rs767704163
|
|
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)
|
rs886039482
|
|
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)
|
rs148792791
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000487.6(ARSA):c.583del (p.Trp195fs)
|
rs398123416
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000528.4(MAN2B1):c.1644+4A>G
|
rs1218254964
|
|
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
|
rs748411156
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)
|
rs267607337
|
|
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
|
rs1204840140
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp)
|
rs1131690786
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter)
|
rs1557084120
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
|
rs121909121
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127511.3(APC):c.-190G>A
|
rs879253785
|
|
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)
|
rs1745753552
|
|
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)
|
rs587776895
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
NM_001167.4(XIAP):c.-10_977+11del
|
|
|
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)
|
rs397514551
|
|
NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)
|
rs1588307464
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001286704.2(UFM1):c.-273_-271del
|
rs747359907
|
|
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)
|
rs863224886
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)
|
rs796053229
|
|
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)
|
|
|
NM_001368894.2(PAX6):c.11-218_565+80del
|
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)
|
rs1912903065
|
|
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
|
|
|
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs)
|
rs756797124
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.6101del (p.Gly2034fs)
|
rs2145519321
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)
|
rs281875325
|
|
NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs)
|
rs1938056582
|
|
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)
|
rs864309721
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002439.5(MSH3):c.1148del (p.Lys383fs)
|
rs587776701
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)
|
rs1563518388
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)
|
rs104894311
|
|
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)
|
rs137853305
|
|
NM_003482.4(KMT2D):c.2488G>T (p.Glu830Ter)
|
rs1286510393
|
|
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln)
|
rs769259446
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)
|
rs2059695805
|
|
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)
|
rs1554886816
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_004562.3(PRKN):c.155del (p.Asn52fs)
|
rs754809877
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)
|
rs1554689320
|
|
NM_005859.5(PURA):c.812_814del (p.Phe271del)
|
rs587782991
|
|
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)
|
rs1555641324
|
|
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)
|
rs397514565
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)
|
rs587777512
|
|
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)
|
rs104893720
|
|
NM_006767.4(LZTR1):c.1373dup (p.His459fs)
|
rs1924703709
|
|
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)
|
rs193922921
|
|
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)
|
rs749201074
|
|
NM_013275.6(ANKRD11):c.2054_2055del (p.Lys685fs)
|
rs2151761605
|
|
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)
|
rs141028076
|
|
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)
|
rs878853280
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
|
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
NM_017799.4(TMEM260):c.1698_1701del (p.Tyr567fs)
|
rs1085307449
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)
|
rs587779380
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020320.5(RARS2):c.1A>T (p.Met1Leu)
|
rs774923951
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020632.3(ATP6V0A4):c.2140-61_2257+166del
|
rs1803996097
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)
|
rs1299932363
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024884.3(L2HGDH):c.1065-13_1196+207del
|
rs1889265791
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_031407.7(HUWE1):c.646-1G>A
|
rs2149065229
|
|
NM_032801.5(JAM3):c.612+1G>T
|
rs761700427
|
|
NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs)
|
rs2147798059
|
|
NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs)
|
rs2147798228
|
|
NM_033380.3(COL4A5):c.347del (p.Pro116fs)
|
rs2147746687
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs)
|
rs1382415023
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)
|
rs886041300
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)
|
rs764196809
|
|
UGT1A1*28
|
rs3064744
|
|