NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_024006.6(VKORC1):c.196G>A (p.Val66Met)
|
rs72547529
|
0.00086
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)
|
rs74830677
|
0.00068
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)
|
rs104894658
|
0.00033
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
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_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
NM_002437.5(MPV17):c.186+2T>C
|
rs147952488
|
0.00012
|
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
|
rs747067203
|
0.00011
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)
|
rs121912708
|
0.00010
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)
|
rs137853134
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)
|
rs730882150
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)
|
rs751050956
|
0.00005
|
NM_152906.7(TANGO2):c.605+1G>A
|
rs372949028
|
0.00005
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)
|
rs121917724
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)
|
rs367797185
|
0.00004
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)
|
rs312262693
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000384.3(APOB):c.10238del (p.Thr3413fs)
|
rs756209187
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001126121.2(SLC25A19):c.775-1G>C
|
rs372041843
|
0.00003
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)
|
rs535912271
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)
|
rs1191239079
|
0.00003
|
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg)
|
rs748940147
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_002635.4(SLC25A3):c.158-303A>G
|
rs745305932
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs)
|
rs587783220
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)
|
rs80338777
|
0.00001
|
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter)
|
rs886041186
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
|
rs61750074
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)
|
rs771076819
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001555.5(IGSF1):c.3790C>T (p.Arg1264Ter)
|
rs1309588455
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)
|
rs121918642
|
0.00001
|
NM_003560.4(PLA2G6):c.2035-2A>G
|
rs1602057157
|
0.00001
|
NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter)
|
rs144659252
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)
|
rs773790897
|
0.00001
|
NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter)
|
rs756541266
|
0.00001
|
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)
|
rs754659608
|
0.00001
|
NM_006565.4(CTCF):c.1103G>A (p.Arg368His)
|
rs1259610303
|
0.00001
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
NM_007198.4(PLPBP):c.320-2A>G
|
rs1057519424
|
0.00001
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter)
|
rs746333044
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)
|
rs118192236
|
0.00001
|
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1
|
|
|
NM_000038.6(APC):c.5101C>T (p.Gln1701Ter)
|
rs1561597691
|
|
NM_000043.6(FAS):c.657_658del (p.Val220fs)
|
rs1589488494
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)
|
rs80359284
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs)
|
rs80359474
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs)
|
rs80359512
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000061.3(BTK):c.726dup (p.Ile243fs)
|
rs1569292774
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg)
|
rs121912839
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.1108+1G>T
|
rs1057517734
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000168.6(GLI3):c.3224del (p.Leu1075fs)
|
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)
|
rs869320658
|
|
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)
|
rs869320659
|
|
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
|
|
|
NM_000214.3(JAG1):c.514C>T (p.Gln172Ter)
|
|
|
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)
|
rs28933383
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)
|
rs199472708
|
|
NM_000238.4(KCNH2):c.746del (p.Pro249fs)
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)
|
rs797045713
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.63+1G>T
|
rs587783843
|
|
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)
|
rs758008398
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs)
|
rs2095877685
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000264.5(PTCH1):c.1348-1G>A
|
rs1841170844
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)
|
rs922533851
|
|
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)
|
|
|
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)
|
rs137853258
|
|
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)
|
rs2063232292
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)
|
rs1598405334
|
|
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)
|
rs199473108
|
|
NM_000335.5(SCN5A):c.1936del (p.Gln646fs)
|
rs727505158
|
|
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter)
|
rs1060501136
|
|
NM_000346.4(SOX9):c.196G>T (p.Glu66Ter)
|
rs759597531
|
|
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)
|
rs866706988
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000360.4(TH):c.448C>T (p.Gln150Ter)
|
rs1590169710
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs)
|
rs762914474
|
|
NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter)
|
rs1590192032
|
|
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
|
|
|
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)
|
rs137852322
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)
|
rs797046091
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000475.5(NR0B1):c.1169-1G>T
|
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)
|
rs387907201
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)
|
rs80356611
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
NM_000531.6(OTC):c.437C>A (p.Ser146Ter)
|
|
|
NM_000531.6(OTC):c.604C>T (p.His202Tyr)
|
rs72558408
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)
|
rs1568537774
|
|
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)
|
rs193922887
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000548.5(TSC2):c.935_936del (p.Leu312fs)
|
rs1596288988
|
|
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)
|
rs121918616
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)
|
rs983649759
|
|
NM_000969.5(RPL5):c.692dup (p.Thr232fs)
|
rs1571032029
|
|
NM_001005242.3(PKP2):c.1532del (p.Phe511fs)
|
rs794729127
|
|
NM_001009944.3(PKD1):c.8791+1G>A
|
rs2092177236
|
|
NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter)
|
rs137853598
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs)
|
rs1592831898
|
|
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)
|
rs121434491
|
|
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)
|
rs1697221269
|
|
NM_001042424.3(NSD2):c.1641_1642del (p.Arg548fs)
|
|
|
NM_001042424.3(NSD2):c.367G>T (p.Glu123Ter)
|
|
|
NM_001044385.3(TMEM237):c.275-2A>G
|
rs1574582671
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA
|
rs1559406508
|
|
NM_001079668.3(NKX2-1):c.989_1016dup (p.Ala341fs)
|
|
|
NM_001080517.3(SETD5):c.891dup (p.Ile298fs)
|
|
|
NM_001083961.2(WDR62):c.2864_2867del (p.Asp955fs)
|
rs757827840
|
|
NM_001100.4(ACTA1):c.489C>A (p.His163Gln)
|
rs1571893383
|
|
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)
|
rs727502886
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.789del (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127392.3(MYRF):c.2956C>T (p.Arg986Ter)
|
|
|
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])
|
rs587776992
|
|
NM_001164508.2(NEB):c.10872+1G>A
|
rs1336053002
|
|
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs)
|
rs1575024425
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.7956+1G>A
|
rs2098919015
|
|
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter)
|
rs1577253760
|
|
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe)
|
rs796053099
|
|
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)
|
rs121918783
|
|
NM_001166345.3(MDFIC):c.391dup (p.Met131fs)
|
rs562142736
|
|
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)
|
rs1057517686
|
|
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser)
|
rs1569314471
|
|
NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)
|
|
|
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)
|
rs587783680
|
|
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)
|
rs746994660
|
|
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)
|
rs587776977
|
|
NM_001267550.2(TTN):c.52524del (p.Lys17508fs)
|
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)
|
rs1555444702
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)
|
rs1556341546
|
|
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs)
|
rs1602928108
|
|
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)
|
rs912069418
|
|
NM_001320.7(CSNK2B):c.367+1G>A
|
rs2151188416
|
|
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)
|
rs879255704
|
|
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)
|
rs2138711868
|
|
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)
|
rs797044520
|
|
NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)
|
|
|
NM_001349798.2(FBXW7):c.1855+1G>C
|
|
|
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)
|
rs267607086
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
|
|
NM_001365902.3(NFIX):c.933_943del (p.Trp312fs)
|
rs1599848690
|
|
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)
|
rs1592348310
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
NM_001374828.1(ARID1B):c.5916del (p.Pro1972_Leu1973insTer)
|
|
|
NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter)
|
rs1589974634
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs)
|
rs775168204
|
|
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)
|
rs139310551
|
|
NM_001451.3(FOXF1):c.1070_1080del (p.His357fs)
|
|
|
NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)
|
|
|
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)
|
rs1597291554
|
|
NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter)
|
|
|
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs)
|
rs1057519478
|
|
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)
|
rs886039303
|
|
NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp)
|
rs864309492
|
|
NM_001710.6(CFB):c.856T>C (p.Phe286Leu)
|
|
|
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg)
|
rs794727472
|
|
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)
|
rs1592202517
|
|
NM_001854.4(COL11A1):c.2808+2del
|
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr)
|
rs1555144358
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter)
|
rs745516434
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg)
|
rs1576203003
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)
|
rs1561423197
|
|
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)
|
rs766555082
|
|
NM_002397.5(MEF2C):c.19C>T (p.Gln7Ter)
|
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
|
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_003036.4(SKI):c.91T>C (p.Ser31Pro)
|
rs1569656981
|
|
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu)
|
rs1822649338
|
|
NM_003073.5(SMARCB1):c.351del (p.Thr118fs)
|
rs1555876140
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)
|
rs80356547
|
|
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)
|
rs1943085639
|
|
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter)
|
rs1555187956
|
|
NM_003482.4(KMT2D):c.1336del (p.Glu446fs)
|
|
|
NM_003482.4(KMT2D):c.14753del (p.Pro4918fs)
|
rs1592106879
|
|
NM_003482.4(KMT2D):c.16522-5_16522-2del
|
rs2137703007
|
|
NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)
|
|
|
NM_003482.4(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer)
|
rs1592150075
|
|
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)
|
rs1592139221
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003919.3(SGCE):c.619del (p.Arg207fs)
|
rs1554352819
|
|
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)
|
rs757020181
|
|
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)
|
rs17879189
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004247.4(EFTUD2):c.1058+1G>A
|
rs1085307647
|
|
NM_004247.4(EFTUD2):c.2562-2_2562-1del
|
rs2050474390
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
NM_004380.3(CREBBP):c.4944del (p.Ile1649fs)
|
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter)
|
rs146296069
|
|
NM_004415.4(DSP):c.925C>T (p.Gln309Ter)
|
rs1581799453
|
|
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)
|
rs1562969219
|
|
NM_004444.5(EPHB4):c.2354G>A (p.Arg785Gln)
|
|
|
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
|
|
|
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)
|
rs1586800133
|
|
NM_004646.4(NPHS1):c.621del (p.Ser208fs)
|
rs2146828521
|
|
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)
|
rs751206379
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)
|
rs121913535
|
|
NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs)
|
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)
|
rs922847767
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter)
|
rs868941656
|
|
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile)
|
rs587776961
|
|
NM_005677.4(COLQ):c.893del (p.Asn298fs)
|
rs2125089093
|
|
NM_005859.5(PURA):c.424dup (p.Ala142fs)
|
rs1581036383
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005901.6(SMAD2):c.997+1G>T
|
|
|
NM_006009.4(TUBA1A):c.352G>C (p.Val118Leu)
|
rs863224938
|
|
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter)
|
rs2081053546
|
|
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter)
|
rs2081169212
|
|
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter)
|
rs530073586
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val)
|
rs121918025
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
|
rs1762136390
|
|
NM_006565.4(CTCF):c.778_781del (p.Lys260fs)
|
rs2052063931
|
|
NM_006766.5(KAT6A):c.1903-5_1903-2del
|
rs1587727050
|
|
NM_006767.4(LZTR1):c.401-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
|
rs1554121443
|
|
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs)
|
rs755595256
|
|
NM_007254.4(PNKP):c.1386+49_1387-33del
|
rs752902474
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007363.5(NONO):c.731dup (p.Asn244fs)
|
rs1555950011
|
|
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
|
rs1591495767
|
|
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)
|
rs1383727273
|
|
NM_012330.4(KAT6B):c.3378_3381del (p.Phe1127fs)
|
|
|
NM_012330.4(KAT6B):c.4453dup (p.Cys1485fs)
|
|
|
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter)
|
rs369027010
|
|
NM_013275.6(ANKRD11):c.1616_1617del (p.Thr539fs)
|
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_014009.4(FOXP3):c.-23+1G>T
|
rs1602693008
|
|
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
|
rs2066044949
|
|
NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)
|
|
|
NM_014112.5(TRPS1):c.2666del (p.Asn889fs)
|
rs1586430715
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
NM_014239.4(EIF2B2):c.42del (p.Ile15fs)
|
rs1889561523
|
|
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)
|
rs121908536
|
|
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
|
|
|
NM_014795.4(ZEB2):c.1387del (p.Val463fs)
|
rs1573717173
|
|
NM_014795.4(ZEB2):c.656del (p.Gly219fs)
|
rs1573721242
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_015338.6(ASXL1):c.2324T>G (p.Leu775Ter)
|
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
NM_017780.4(CHD7):c.2881del (p.Glu961fs)
|
rs2150749363
|
|
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
|
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)
|
rs886040978
|
|
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
|
|
|
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)
|
rs1554603552
|
|
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs)
|
rs1586453824
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
NM_017780.4(CHD7):c.807del (p.Ala270fs)
|
rs1586249559
|
|
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
|
rs771806027
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter)
|
rs1589152355
|
|
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)
|
rs397515415
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs)
|
rs1595334203
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)
|
rs387907209
|
|
NM_020778.5(ALPK3):c.4313C>A (p.Ser1438Ter)
|
|
|
NM_020791.4(TAOK1):c.204+1G>A
|
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer)
|
rs2050617604
|
|
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs)
|
rs2049058963
|
|
NM_020975.6(RET):c.712G>T (p.Glu238Ter)
|
rs1588866040
|
|
NM_020975.6(RET):c.971G>A (p.Trp324Ter)
|
|
|
NM_022114.4(PRDM16):c.213del (p.Val72fs)
|
rs1569798933
|
|
NM_022369.4(STRA6):c.1301-6T>A
|
rs1367215268
|
|
NM_022369.4(STRA6):c.347del (p.Leu116fs)
|
rs2073803030
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)
|
rs749383814
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024426.6(WT1):c.1354+2T>C
|
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
NM_025243.4(SLC19A3):c.597dup (p.His200fs)
|
rs773140674
|
|
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)
|
rs1204482456
|
|
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032271.3(TRAF7):c.1673C>T (p.Ser558Phe)
|
rs2141297268
|
|
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
|
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)
|
|
|
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)
|
rs1031314447
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_057175.5(NAA15):c.1087+2T>G
|
rs1747866049
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
NM_130837.3(OPA1):c.556+1G>A
|
rs1577162868
|
|
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
|
|
|
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
|
|
|
NM_133433.4(NIPBL):c.2291del (p.Asn764fs)
|
rs1580396767
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
NM_138387.4(G6PC3):c.199_218+1del
|
rs1597905369
|
|
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)
|
rs746972457
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)
|
rs1301855639
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_152641.4(ARID2):c.1121-1G>A
|
rs1943242602
|
|
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)
|
rs763527391
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter)
|
rs1057518650
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_172107.4(KCNQ2):c.1681C>T (p.Pro561Ser)
|
rs2145542063
|
|
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)
|
rs1555850842
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.830C>T (p.Thr277Ile)
|
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
|
rs118192215
|
|
NM_182641.4(BPTF):c.8262-2A>G
|
rs1057518354
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
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NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter)
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rs1798679896
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NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)
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NM_206538.4(EMC10):c.287del (p.Gly96fs)
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rs770255014
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NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs)
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rs2061224553
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Single allele
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