NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)
|
rs117475706
|
0.00292
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_023936.2(MRPS34):c.322-10G>A
|
rs563189672
|
0.00015
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)
|
rs201943194
|
0.00008
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
NM_016011.5(MECR):c.830+2dup
|
rs756421370
|
0.00006
|
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)
|
rs746882521
|
0.00005
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)
|
rs781939614
|
0.00004
|
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)
|
rs1364709483
|
0.00004
|
NM_198076.6(COX20):c.41A>G (p.Lys14Arg)
|
rs1057521790
|
0.00004
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000308.4(CTSA):c.497del (p.Glu166fs)
|
rs1159382283
|
0.00003
|
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)
|
rs1028163227
|
0.00003
|
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)
|
rs267608688
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
NM_176787.5(PIGN):c.1251+1G>A
|
rs1462805697
|
0.00003
|
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr)
|
rs971183744
|
0.00002
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)
|
rs367904759
|
0.00002
|
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)
|
rs781565158
|
0.00002
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001114753.3(ENG):c.816+6T>C
|
rs759191907
|
0.00001
|
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs)
|
rs780631499
|
0.00001
|
NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu)
|
rs867410737
|
0.00001
|
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)
|
rs267607261
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_003119.4(SPG7):c.2271del (p.Met757fs)
|
rs1217391623
|
0.00001
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu)
|
rs121917838
|
0.00001
|
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)
|
rs376152742
|
0.00001
|
NM_152419.3(HGSNAT):c.493+809T>C
|
rs1042066401
|
0.00001
|
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)
|
rs752298579
|
0.00001
|
Multiple alleles
|
|
|
NC_000001.11:g.27491184_27584566del
|
|
|
NC_000004.12:g.106168703_106217941del
|
|
|
NC_000005.10:g.126508361_126769360del
|
|
|
NC_000005.10:g.88846693_89051376delinsG
|
|
|
NC_000009.12:g.137729445_137745564dup
|
|
|
NC_000012.12:g.43775405_43788500del
|
|
|
NC_000016.10:g.78152047_78188346del
|
|
|
NC_000017.11:g.46096853_46403941del
|
|
|
NC_000023.11:g.18419574_18504791del
|
|
|
NC_000023.11:g.64951692_65166933del
|
|
|
NG_012337.3(SDHD):g.11847_14024del
|
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
|
rs797045344
|
|
NM_000094.4(COL7A1):c.1A>G (p.Met1Val)
|
rs1064797078
|
|
NM_000094.4(COL7A1):c.5532+1G>A
|
rs767182886
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT
|
rs869320698
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000214.3(JAG1):c.2113+1G>T
|
rs1294950721
|
|
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)
|
rs555145190
|
|
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)
|
rs374526072
|
|
NM_000311.5(PRNP):c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGln)
|
rs193922906
|
|
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter)
|
rs912001256
|
|
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp)
|
rs1289406215
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)
|
rs1553920379
|
|
NM_000977.4(RPL13):c.477+1G>A
|
rs1597675888
|
|
NM_001001433.3(STX16):c.393+557_792+364del
|
|
|
NM_001007228.2(SPOP):c.223G>A (p.Gly75Arg)
|
rs2143273650
|
|
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)
|
rs774594582
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001032221.6(STXBP1):c.246+2_325+14del
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001042424.3(NSD2):c.1642dup (p.Arg548fs)
|
rs1577484648
|
|
NM_001042492.3(NF1):c.4110+945A>G
|
rs2067468999
|
|
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter)
|
rs2045177486
|
|
NM_001083962.2(TCF4):c.1486+1G>T
|
rs2048816852
|
|
NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu)
|
rs1318084629
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.63-73_1087del
|
|
|
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs)
|
rs1569548274
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)
|
rs727502818
|
|
NM_001128840.3(CACNA1D):c.2239T>C (p.Phe747Leu)
|
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser)
|
rs2063620799
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001163435.3(TBCK):c.1860+1G>A
|
rs1303851095
|
|
NM_001163435.3(TBCK):c.2060-6793_2235+427del
|
|
|
NM_001163435.3(TBCK):c.2060_2235+1del
|
rs1560755661
|
|
NM_001163435.3(TBCK):c.659-1G>A
|
rs1579391376
|
|
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)
|
rs1475000361
|
|
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)
|
|
|
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer)
|
rs1572753822
|
|
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter)
|
rs1555038111
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)
|
rs751093906
|
|
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)
|
rs1563452941
|
|
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)
|
rs387906653
|
|
NM_001257180.2(SLC20A2):c.935-2A>G
|
rs1586025869
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)
|
rs1057518345
|
|
NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu)
|
rs2038825509
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)
|
rs1555955296
|
|
NM_001330701.2(AGTPBP1):c.2336-1G>T
|
rs1554699491
|
|
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs)
|
rs1569355102
|
|
NM_001348323.3(TRIP12):c.1279del (p.Ser427fs)
|
rs1553655558
|
|
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)
|
rs1602253296
|
|
NM_001365276.2(TNXB):c.7943G>A (p.Trp2648Ter)
|
rs968981994
|
|
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)
|
rs387907144
|
|
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)
|
rs1057519389
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083
|
|
NM_001376571.1(MADD):c.4080del (p.Lys1361fs)
|
rs2086196870
|
|
NM_001378183.1(PIEZO2):c.5257-1G>A
|
rs1555630216
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_001697.3(ATP5PO):c.87+3A>G
|
rs1987287870
|
|
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)
|
rs1565679039
|
|
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)
|
rs1057523354
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)
|
rs1553603732
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)
|
rs397514698
|
|
NM_002180.3(IGHMBP2):c.1235+894C>A
|
rs1202430946
|
|
NM_002336.3(LRP6):c.3399del (p.Ala1134fs)
|
rs2136885834
|
|
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn)
|
rs397516793
|
|
NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter)
|
rs1403781576
|
|
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)
|
rs864321670
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
NM_003011.4(SET):c.663+5G>C
|
rs1861628072
|
|
NM_003128.3(SPTBN1):c.803C>G (p.Thr268Ser)
|
rs2103866356
|
|
NM_003334.4(UBA1):c.121A>G (p.Met41Val)
|
rs1936307795
|
|
NM_003545.4(H4C5):c.295T>C (p.Tyr99His)
|
|
|
NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC
|
|
|
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)
|
rs763475304
|
|
NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)
|
rs2102658561
|
|
NM_004006.3(DMD):c.9974+175T>A
|
rs1602451773
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter)
|
rs1400419650
|
|
NM_004239.4(TRIP11):c.4557+1G>T
|
rs1555386022
|
|
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs)
|
rs1555565774
|
|
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004937.3(CTNS):c.479del (p.Phe160fs)
|
rs2076150607
|
|
NM_004937.3(CTNS):c.62-2864_225+2278del
|
|
|
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)
|
rs751206379
|
|
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)
|
rs587777893
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)
|
rs267606826
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_005506.4(SCARB2):c.367dup (p.Gln123fs)
|
rs1553948516
|
|
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)
|
rs1568019012
|
|
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)
|
rs774277300
|
|
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)
|
rs879255280
|
|
NM_005677.4(COLQ):c.1212del (p.Cys405fs)
|
rs771866680
|
|
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs)
|
rs137854889
|
|
NM_005932.4(MIPEP):c.787-51_993-181del
|
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)
|
rs1034395178
|
|
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
|
rs1554121443
|
|
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs)
|
rs1554122458
|
|
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
|
rs151344517
|
|
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
|
rs1591495767
|
|
NM_013403.3(STRN4):c.282+78C>T
|
rs1555735545
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014727.3(KMT2B):c.118del (p.Ala40fs)
|
rs1969024891
|
|
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs)
|
rs1555727493
|
|
NM_014727.3(KMT2B):c.7614del (p.Thr2539fs)
|
rs2146481256
|
|
NM_014738.6(TMEM94):c.2605dup (p.Met869fs)
|
rs1163944538
|
|
NM_014738.6(TMEM94):c.765-1G>C
|
rs1352010373
|
|
NM_014874.4(MFN2):c.600-31T>G
|
|
|
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs)
|
rs1569324457
|
|
NM_015338.6(ASXL1):c.1720-1G>A
|
rs1254271466
|
|
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
|
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)
|
rs1789927813
|
|
NM_015932.6(POMP):c.334_335del (p.Ile112fs)
|
rs1555257073
|
|
NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)
|
|
|
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)
|
|
|
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter)
|
rs1416395914
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)
|
rs1564421528
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser)
|
|
|
NM_017780.4(CHD7):c.2239-16T>A
|
|
|
NM_017780.4(CHD7):c.2239-20_2239-6del
|
rs2150708627
|
|
NM_017934.7(PHIP):c.3656+1242A>T
|
rs1582111930
|
|
NM_018263.6(ASXL2):c.2424del (p.Thr809fs)
|
rs886041065
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_020320.5(RARS2):c.1612del (p.Thr538fs)
|
rs781417096
|
|
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter)
|
rs1557781252
|
|
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs)
|
rs1570929072
|
|
NM_020964.3(EPG5):c.5943-9_5943-5del
|
rs773330060
|
|
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn)
|
rs186051700
|
|
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)
|
|
|
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
|
|
|
NM_022089.4(ATP13A2):c.1749+442_2251+512del
|
|
|
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter)
|
rs1566786613
|
|
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter)
|
rs387907145
|
|
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)
|
rs786205124
|
|
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)
|
rs1553770577
|
|
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer)
|
rs1555454508
|
|
NM_025137.4(SPG11):c.642del (p.Phe214fs)
|
rs312262717
|
|
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)
|
rs1052954321
|
|
NM_030632.3(ASXL3):c.3039+1G>A
|
rs1555743003
|
|
NM_030665.4(RAI1):c.2472dup (p.Leu825fs)
|
rs1555565492
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_032638.5(GATA2):c.839del (p.Pro280fs)
|
rs1576748366
|
|
NM_033453.4(ITPA):c.263+583_295+1203del
|
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_139058.3(ARX):c.196+129_1073+903del
|
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter)
|
rs1602068260
|
|
NM_152906.5(TANGO2):c.57-1743_*10769del
|
|
|
NM_170606.3(KMT2C):c.8026C>T (p.Gln2676Ter)
|
rs1587953116
|
|
NM_177972.3(TUB):c.1194_1195del (p.Arg398fs)
|
rs727502810
|
|
NM_182961.4(SYNE1):c.1369del (p.Asp457fs)
|
rs1554768245
|
|
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter)
|
rs1559931177
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NR_023317.1(RNU7-1):n.28C>T
|
rs180837208
|
|
Single allele
|
|
|
m.15923A>G
|
rs1556424691
|
|
m.4291T>C
|
rs121434471
|
|
m.8344A>G
|
rs118192098
|
|