NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
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_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
|
rs28936700
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)
|
rs149459910
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)
|
rs782800778
|
0.00007
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_005535.3(IL12RB1):c.1791+2T>G
|
rs554063682
|
0.00006
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)
|
rs72553885
|
0.00004
|
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)
|
rs752596663
|
0.00004
|
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)
|
rs606231276
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter)
|
rs764447736
|
0.00003
|
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter)
|
rs1050823116
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
|
rs747602915
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
|
rs778114016
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)
|
rs28938472
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter)
|
rs935792706
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)
|
rs1327401976
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00001
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)
|
rs763041373
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter)
|
rs1131691593
|
0.00001
|
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)
|
rs121918540
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln)
|
rs786205551
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)
|
rs1593903422
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000089.4(COL1A2):c.432+4_432+7del
|
rs72656363
|
|
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter)
|
rs121913032
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000132.4(F8):c.2044G>T (p.Val682Phe)
|
rs1569559755
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)
|
rs796052005
|
|
NM_000271.5(NPC1):c.2130+1G>A
|
rs2058753286
|
|
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA
|
rs1555375711
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000312.4(PROC):c.1163C>T (p.Ala388Val)
|
rs769277939
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu)
|
rs769180471
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)
|
rs121909792
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)
|
rs766503255
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile)
|
rs1585617108
|
|
NM_000487.6(ARSA):c.1108-2A>G
|
rs398123411
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000517.6(HBA2):c.*94A>G
|
rs63751269
|
|
NM_000521.4(HEXB):c.1169+3_1169+10del
|
rs398123444
|
|
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)
|
rs1554034434
|
|
NM_000527.5(LDLR):c.2027del (p.Gly676fs)
|
rs875989937
|
|
NM_000529.2(MC2R):c.459dup (p.Ile154fs)
|
rs1555619430
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000546.6(TP53):c.273G>A (p.Trp91Ter)
|
rs876660548
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)
|
rs780950819
|
|
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)
|
rs1057520815
|
|
NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
|
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)
|
rs1167476946
|
|
NM_001010874.5(TECRL):c.331+1G>A
|
rs1057517699
|
|
NM_001029883.3(PCARE):c.1541del (p.Pro514fs)
|
rs1667513233
|
|
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)
|
rs587777067
|
|
NM_001032386.2(SUOX):c.520del (p.Asp174fs)
|
rs1565798380
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)
|
rs1591672193
|
|
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)
|
rs2093650935
|
|
NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)
|
rs1580059038
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)
|
rs1566212378
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001174089.2(SLC4A11):c.2018+1G>A
|
rs2067654837
|
|
NM_001256317.3(TMPRSS3):c.1192-1G>C
|
rs1601514990
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)
|
rs1561540623
|
|
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
|
rs1554265316
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter)
|
rs372127610
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001625.4(AK2):c.545C>A (p.Ala182Asp)
|
rs559947967
|
|
NM_001626.6(AKT2):c.49G>A (p.Glu17Lys)
|
rs387906659
|
|
NM_001673.5(ASNS):c.1137+1G>A
|
rs1791383191
|
|
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)
|
rs1569061768
|
|
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)
|
rs121912880
|
|
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)
|
rs113994109
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)
|
rs1064793935
|
|
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)
|
rs886041281
|
|
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)
|
rs765023287
|
|
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)
|
rs57590980
|
|
NM_002354.3(EPCAM):c.499dup (p.Gln167fs)
|
rs606231204
|
|
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)
|
rs1567692384
|
|
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter)
|
rs879253889
|
|
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)
|
rs387906726
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)
|
rs121918104
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His)
|
rs104893816
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
NM_003721.4(RFXANK):c.271+1G>C
|
rs759667201
|
|
NM_003721.4(RFXANK):c.271+1delinsTCAC
|
rs2060611603
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)
|
rs367638648
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser)
|
rs1589509307
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004750.5(CRLF1):c.983dup (p.Ser328fs)
|
rs1555758035
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter)
|
rs1601070652
|
|
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val)
|
rs752600100
|
|
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)
|
rs1603441682
|
|
NM_005522.5(HOXA1):c.175dup (p.Val59fs)
|
rs769152039
|
|
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)
|
rs137852763
|
|
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs)
|
rs1571575523
|
|
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)
|
rs769917456
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)
|
rs1555641324
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)
|
rs587784495
|
|
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)
|
rs561075447
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)
|
rs587777512
|
|
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)
|
rs1555989364
|
|
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)
|
rs104893720
|
|
NM_006755.2(TALDO1):c.793del (p.Gln265fs)
|
rs727502867
|
|
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)
|
rs1554486894
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)
|
rs1582192007
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)
|
rs2034195603
|
|
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)
|
rs1581930130
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234
|
|
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)
|
rs1863269109
|
|
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter)
|
rs895782232
|
|
NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs)
|
rs1057519017
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
NM_018238.4(AGK):c.424-3C>G
|
rs766413410
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)
|
rs569240271
|
|
NM_022167.4(XYLT2):c.520del (p.Ala174fs)
|
rs797044807
|
|
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)
|
rs749688157
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)
|
rs121917884
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)
|
rs763706988
|
|
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs)
|
rs587781231
|
|
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)
|
rs1807027560
|
|
NM_138425.4(C12orf57):c.53-2A>G
|
rs1114167293
|
|
NM_138638.5(CFL2):c.338del (p.Ser113fs)
|
rs1594784544
|
|
NM_145207.3(AFG2A):c.1741A>T (p.Lys581Ter)
|
rs1725521831
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152281.3(GORAB):c.231dup (p.Pro78fs)
|
rs1571243797
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)
|
rs1270369106
|
|
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)
|
rs118091316
|
|
NM_174916.3(UBR1):c.1440-1G>A
|
rs1596118528
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr)
|
rs1588563037
|
|
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)
|
rs1064793391
|
|
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
|
rs397514513
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_198239.2(CCN6):c.246del (p.Glu84fs)
|
rs797044438
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter)
|
rs137854444
|
|
NM_207037.2(TCF12):c.1035+5G>A
|
rs878853094
|
|
NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)
|
rs1968005848
|
|