NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu)
|
rs149910292
|
0.00372
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)
|
rs138070797
|
0.00234
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)
|
rs145897018
|
0.00129
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
NM_001174147.2(LMX1B):c.886+18C>T
|
rs529668402
|
0.00104
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr)
|
rs145369252
|
0.00068
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala)
|
rs199717745
|
0.00060
|
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val)
|
rs149853330
|
0.00056
|
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg)
|
rs139982397
|
0.00056
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
0.00051
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser)
|
rs199746225
|
0.00034
|
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
|
rs143328343
|
0.00031
|
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg)
|
rs527967292
|
0.00030
|
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)
|
rs113718290
|
0.00030
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg)
|
rs116677071
|
0.00016
|
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val)
|
rs558262843
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
NM_001286577.2(C2CD3):c.5882-332A>G
|
rs200146492
|
0.00013
|
NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile)
|
rs139705387
|
0.00012
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala)
|
rs759581394
|
0.00011
|
NM_198525.3(KIF7):c.2482G>A (p.Val828Met)
|
rs143915145
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)
|
rs747833963
|
0.00009
|
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala)
|
rs985345843
|
0.00009
|
NM_000202.8(IDS):c.1144G>C (p.Asp382His)
|
rs370125505
|
0.00008
|
NM_001206744.2(TPO):c.1472G>A (p.Arg491His)
|
rs201165648
|
0.00008
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)
|
rs768768823
|
0.00007
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu)
|
rs200821373
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser)
|
rs952023183
|
0.00004
|
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala)
|
rs759849782
|
0.00004
|
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp)
|
rs765538745
|
0.00004
|
NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys)
|
rs372359356
|
0.00004
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp)
|
rs764968620
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser)
|
rs771579029
|
0.00003
|
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn)
|
rs202151661
|
0.00003
|
NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys)
|
rs779998857
|
0.00003
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
NM_001126108.2(SLC12A3):c.1925+1G>A
|
rs1401379546
|
0.00002
|
NM_001395413.1(POR):c.1166dup (p.Ala390fs)
|
rs1554558791
|
0.00002
|
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)
|
rs752966476
|
0.00002
|
NM_004278.4(PIGL):c.660+1G>T
|
rs768198327
|
0.00002
|
NM_005378.6(MYCN):c.854G>T (p.Arg285Leu)
|
rs747134309
|
0.00002
|
NM_144643.4(SCLT1):c.1421T>C (p.Ile474Thr)
|
rs747582277
|
0.00002
|
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)
|
rs533866031
|
0.00001
|
NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly)
|
rs780263938
|
0.00001
|
NM_000186.4(CFH):c.506A>G (p.His169Arg)
|
rs768647508
|
0.00001
|
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)
|
rs794727165
|
0.00001
|
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu)
|
rs1377413977
|
0.00001
|
NM_000540.3(RYR1):c.9472+9G>A
|
rs1392237616
|
0.00001
|
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val)
|
rs753437773
|
0.00001
|
NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val)
|
rs1215653376
|
0.00001
|
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)
|
rs199634446
|
0.00001
|
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)
|
rs755306871
|
0.00001
|
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
|
rs186882839
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu)
|
rs1474217458
|
0.00001
|
NM_001330078.2(NRXN1):c.2249G>A (p.Arg750His)
|
rs200776618
|
0.00001
|
NM_001330288.2(SMARCC2):c.1744-2A>G
|
rs1025329696
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys)
|
rs781012274
|
0.00001
|
NM_004341.5(CAD):c.2492G>A (p.Arg831His)
|
rs779903352
|
0.00001
|
NM_004525.3(LRP2):c.3667+1G>A
|
rs752197557
|
0.00001
|
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)
|
rs121912672
|
0.00001
|
NM_005529.7(HSPG2):c.3178C>T (p.Arg1060Trp)
|
rs779360555
|
0.00001
|
NM_005529.7(HSPG2):c.4003G>A (p.Ala1335Thr)
|
rs532799636
|
0.00001
|
NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)
|
rs780189423
|
0.00001
|
NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)
|
rs756636036
|
0.00001
|
NM_020937.4(FANCM):c.1271G>A (p.Arg424His)
|
rs139726733
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val)
|
rs921444831
|
0.00001
|
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp)
|
rs751632783
|
0.00001
|
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)
|
rs760225405
|
0.00001
|
NM_057175.5(NAA15):c.239_240del (p.His80fs)
|
rs779009256
|
0.00001
|
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)
|
rs374677519
|
0.00001
|
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys)
|
rs1250638849
|
0.00001
|
GRCh37/hg19 2q24.2(chr2:159844069-161073462)
|
|
|
GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1
|
|
|
GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1
|
|
|
GRCh37/hg19 2q24.2(chr2:160229645-160357102)
|
|
|
GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1
|
|
|
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1
|
|
|
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1
|
|
|
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1
|
|
|
GRCh38/hg38 10q22.1(chr10:72485363-72566418)
|
|
|
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)
|
|
|
GRCh38/hg38 12q24.33(chr12:132804406-132944910)
|
|
|
GRCh38/hg38 13q12.3(chr13:30194283-31591879)
|
|
|
GRCh38/hg38 13q13.3(chr13:38940342-39433293)
|
|
|
GRCh38/hg38 13q31.3(chr13:91423419-91631346)
|
|
|
GRCh38/hg38 14q22.3(chr14:56283850-56400818)
|
|
|
GRCh38/hg38 15q11.2(chr15:22781888-23030923)
|
|
|
GRCh38/hg38 15q11.2(chr15:22787668-23051531)
|
|
|
GRCh38/hg38 15q11.2(chr15:22787849-23051049)
|
|
|
GRCh38/hg38 15q13.2(chr15:30097840-30527284)
|
|
|
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)
|
|
|
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
|
|
|
GRCh38/hg38 15q26.2(chr15:94302663-94352488)
|
|
|
GRCh38/hg38 16p11.2(chr16:29653297-30181026)
|
|
|
GRCh38/hg38 16p13.11(chr16:14816348-16678513)
|
|
|
GRCh38/hg38 16p13.3(chr16:3499966-3774794)
|
|
|
GRCh38/hg38 17q12(chr17:36138501-37924067)
|
|
|
GRCh38/hg38 17q12(chr17:36719878-37889304)
|
|
|
GRCh38/hg38 17q21.31(chr17:43603558-44033313)
|
|
|
GRCh38/hg38 17q21.31(chr17:46130641-46273757)
|
|
|
GRCh38/hg38 17q23.2(chr17:61778623-62006540)
|
|
|
GRCh38/hg38 17q25.3(chr17:82004063-83087346)
|
|
|
GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)
|
|
|
GRCh38/hg38 19q13.11(chr19:34469754-34644767)
|
|
|
GRCh38/hg38 1p36.32(chr1:2518272-4413203)
|
|
|
GRCh38/hg38 1q21.1(chr1:145635432-146019857)
|
|
|
GRCh38/hg38 1q32.3(chr1:212337801-213362035)
|
|
|
GRCh38/hg38 20p11.21(chr20:25121080-25485829)
|
|
|
GRCh38/hg38 20p11.22(chr20:21386174-21530996)
|
|
|
GRCh38/hg38 20p12.1(chr20:14696399-15275484)
|
|
|
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)
|
|
|
GRCh38/hg38 22q11.21(chr22:20354589-21405291)
|
|
|
GRCh38/hg38 22q13.31(chr22:44184196-45239435)
|
|
|
GRCh38/hg38 2p22.3(chr2:32415095-33099301)
|
|
|
GRCh38/hg38 2q23.3(chr2:151451642-151807929)
|
|
|
GRCh38/hg38 2q31.3-32.1(chr2:181915576-182470985)
|
|
|
GRCh38/hg38 3q24(chr3:143944349-143982303)
|
|
|
GRCh38/hg38 3q28(chr3:188671476-188811213)
|
|
|
GRCh38/hg38 3q29(chr3:195950438-197629463)
|
|
|
GRCh38/hg38 4p16.3(chr4:59690-133521)
|
|
|
GRCh38/hg38 5p12(chr5:42502606-42696476)
|
|
|
GRCh38/hg38 5q34(chr5:161615157-162040104)
|
|
|
GRCh38/hg38 6p21.31(chr6:34587317-34856828)
|
|
|
GRCh38/hg38 6p25.3(chr6:259345-293593)
|
|
|
GRCh38/hg38 6q26(chr6:161896065-162548892)
|
|
|
GRCh38/hg38 7p21.3(chr7:10609869-11290301)
|
|
|
GRCh38/hg38 7q11.21(chr7:66791158-67272772)
|
|
|
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
|
|
|
GRCh38/hg38 7q21.13(chr7:89998146-90352986)
|
|
|
GRCh38/hg38 7q31.2(chr7:116868268-117565389)
|
|
|
GRCh38/hg38 7q35(chr7:146062109-146215075)
|
|
|
GRCh38/hg38 8p22(chr8:13396389-13807983)
|
|
|
GRCh38/hg38 8p22(chr8:13974643-14229824)
|
|
|
GRCh38/hg38 8p23.2(chr8:4079202-4329179)
|
|
|
GRCh38/hg38 8q21.13(chr8:81061071-81682394)
|
|
|
GRCh38/hg38 9p24.1(chr9:6641895-6676953)
|
|
|
GRCh38/hg38 9p24.3(chr9:46587-273160)
|
|
|
GRCh38/hg38 9q21.11(chr9:68417620-68744894)
|
|
|
GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)
|
|
|
GRCh38/hg38 9q33.1(chr9:116667613-116806157)
|
|
|
GRCh38/hg38 Xp11.21(chrX:55519984-55625002)
|
|
|
GRCh38/hg38 Xp22.2(chrX:11240104-11903527)
|
|
|
GRCh38/hg38 Xp22.31(chrX:7873079-8504515)
|
|
|
GRCh38/hg38 Xq21.1(chrX:77914739-77914775)
|
|
|
GRCh38/hg38 Xq21.1(chrX:80247518-80444881)
|
|
|
GRCh38/hg38 Xq25(chrX:124702470-124997671)
|
|
|
GRCh38/hg38 Xq26.2(chrX:133658037-133915611)
|
|
|
GRCh38/hg38 Xq28(chrX:153151471-153250484)
|
|
|
GRCh38/hg38 Yq11.221(chrY:14071214-14175405)
|
|
|
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
|
|
|
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg)
|
rs2149083027
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs)
|
rs2129679465
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000165.5(GJA1):c.602C>T (p.Ser201Phe)
|
|
|
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)
|
rs2067299833
|
|
NM_000256.3(MYBPC3):c.1624+2T>C
|
rs111437311
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
|
rs2063245185
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer)
|
rs2147369813
|
|
NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del
|
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000523.4(HOXD13):c.168GGC[6] (p.Ala71dup)
|
rs3832095
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His)
|
rs376872233
|
|
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp)
|
rs1320154351
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_000965.5(RARB):c.638T>C (p.Leu213Pro)
|
rs869025222
|
|
NM_000965.5(RARB):c.881G>T (p.Gly294Val)
|
rs2125325458
|
|
NM_000965.5(RARB):c.986G>A (p.Cys329Tyr)
|
|
|
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs)
|
rs2147468376
|
|
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)
|
rs2147080697
|
|
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg)
|
rs2147230302
|
|
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)
|
rs1641706044
|
|
NM_001042681.2(RERE):c.248dup (p.Ser84fs)
|
rs1557461427
|
|
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu)
|
rs878853011
|
|
NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro)
|
rs1557582271
|
|
NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr)
|
rs1557582259
|
|
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)
|
rs1553154130
|
|
NM_001042681.2(RERE):c.4304A>T (p.His1435Leu)
|
rs1553154130
|
|
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])
|
rs1064793252
|
|
NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg)
|
rs1321809020
|
|
NM_001042750.2(STAG2):c.1894T>A (p.Cys632Ser)
|
rs2148326358
|
|
NM_001042750.2(STAG2):c.1913_1922del (p.Ala638fs)
|
rs2148326568
|
|
NM_001079668.3(NKX2-1):c.612C>G (p.Tyr204Ter)
|
|
|
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter)
|
rs864321657
|
|
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His)
|
rs1556014537
|
|
NM_001083962.2(TCF4):c.1486+1G>T
|
rs2048816852
|
|
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter)
|
rs796053418
|
|
NM_001098.3(ACO2):c.[1894G>A];[487G>T]
|
|
|
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys)
|
rs1747667870
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu)
|
rs281875334
|
|
NM_001101.5(ACTB):c.629G>A (p.Arg210His)
|
rs1064793444
|
|
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)
|
rs1202301143
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala)
|
|
|
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)
|
rs1382225004
|
|
NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly)
|
rs1565307564
|
|
NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs)
|
rs1565308384
|
|
NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs)
|
rs1565286228
|
|
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)
|
|
|
NM_001144967.3(NEDD4L):c.814-6T>A
|
rs2059723813
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001170629.2(CHD8):c.639A>C (p.Pro213=)
|
rs2139539459
|
|
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp)
|
rs1555038090
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro)
|
rs2133068626
|
|
NM_001257180.2(SLC20A2):c.731-18_738del
|
rs1234999465
|
|
NM_001267550.2(TTN):c.66968del (p.Asn22323fs)
|
rs2154176360
|
|
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)
|
rs1057518345
|
|
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs)
|
rs2122840340
|
|
NM_001291415.2(KDM6A):c.2597_2598del (p.Ser866fs)
|
rs2148050812
|
|
NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter)
|
rs2130307055
|
|
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)
|
rs1931281945
|
|
NM_001348800.3(ZBTB20):c.1549_1550delinsAT (p.Ala517Met)
|
rs2108202121
|
|
NM_001349338.3(FOXP1):c.1718_1722+8del
|
rs2036047362
|
|
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro)
|
rs2063911698
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
|
NM_001374353.1(GLI2):c.3523C>T (p.Gln1175Ter)
|
|
|
NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu)
|
rs2033787153
|
|
NM_001379500.1(COL18A1):c.2577+1G>A
|
|
|
NM_001386795.1(DTNA):c.1219G>A (p.Ala407Thr)
|
|
|
NM_001394998.1(TANC2):c.3183G>T (p.Lys1061Asn)
|
rs966689202
|
|
NM_001429.4(EP300):c.2225del (p.Pro742fs)
|
rs2059021664
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His)
|
rs1305375514
|
|
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter)
|
rs1393788111
|
|
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
|
|
|
NM_002069.6(GNAI1):c.134G>T (p.Gly45Val)
|
rs2115631937
|
|
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
|
|
|
NM_002334.4(LRP4):c.694C>A (p.Arg232Ser)
|
|
|
NM_002437.5(MPV17):c.160A>G (p.Met54Val)
|
|
|
NM_002792.4(PSMA7):c.578A>G (p.Lys193Arg)
|
|
|
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)
|
rs1555429629
|
|
NM_002890.3(RASA1):c.1103-1G>T
|
rs1759083657
|
|
NM_002968.3(SALL1):c.721A>G (p.Ile241Val)
|
rs2143449563
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
|
|
|
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter)
|
rs2146359668
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)
|
rs778175819
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003468.4(FZD5):c.904dup (p.His302fs)
|
|
|
NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter)
|
rs2120477465
|
|
NM_003482.4(KMT2D):c.10258dup (p.Ile3420fs)
|
rs1943140835
|
|
NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs)
|
|
|
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter)
|
rs1555187956
|
|
NM_003482.4(KMT2D):c.13543dup (p.Arg4515fs)
|
rs1942880441
|
|
NM_003482.4(KMT2D):c.1967del (p.Leu656fs)
|
rs772870804
|
|
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu)
|
rs587778452
|
|
NM_003482.4(KMT2D):c.3652G>A (p.Ala1218Thr)
|
rs2120643168
|
|
NM_003482.4(KMT2D):c.4419-1G>C
|
|
|
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter)
|
rs886043414
|
|
NM_003482.4(KMT2D):c.7223dup (p.Ser2409fs)
|
rs1943461604
|
|
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs)
|
rs1943436869
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)
|
rs1554333853
|
|
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)
|
rs1560466246
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)
|
rs2145438293
|
|
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
|
|
|
NM_004360.5(CDH1):c.862G>C (p.Asp288His)
|
rs2152131922
|
|
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)
|
rs2141214738
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
|
|
|
NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala)
|
rs2105386662
|
|
NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu)
|
rs2105305609
|
|
NM_005051.3(QARS1):c.1420C>G (p.Leu474Val)
|
rs754909328
|
|
NM_005120.3(MED12):c.5691_5692del (p.Tyr1898fs)
|
rs2092335044
|
|
NM_005157.6(ABL1):c.295T>C (p.Trp99Arg)
|
rs1830947813
|
|
NM_005251.3(FOXC2):c.563_573del (p.Pro188fs)
|
rs1974220729
|
|
NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup)
|
rs2045455875
|
|
NM_005499.3(UBA2):c.364C>T (p.Arg122Ter)
|
rs1599889628
|
|
NM_005515.4(MNX1):c.869A>G (p.Gln290Arg)
|
rs2134838779
|
|
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr)
|
rs1668850707
|
|
NM_005816.5(CD96):c.1181-12T>C
|
|
|
NM_005996.4(TBX3):c.337T>G (p.Trp113Gly)
|
rs2121158390
|
|
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
|
rs1057517843
|
|
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg)
|
rs2124070027
|
|
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs)
|
rs1557620758
|
|
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs)
|
rs2124740134
|
|
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)
|
rs1398108109
|
|
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu)
|
rs2146266663
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.1114-2A>G
|
rs1569358628
|
|
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
|
|
|
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)
|
|
|
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)
|
rs587777512
|
|
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
|
rs786200960
|
|
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser)
|
rs1783105291
|
|
NM_007035.4(KERA):c.229T>C (p.Tyr77His)
|
|
|
NM_007035.4(KERA):c.331G>A (p.Gly111Arg)
|
|
|
NM_007363.5(NONO):c.1171+1G>T
|
rs876661316
|
|
NM_007363.5(NONO):c.457C>T (p.Arg153Ter)
|
rs2031389522
|
|
NM_007363.5(NONO):c.550C>T (p.Arg184Ter)
|
rs1602387702
|
|
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)
|
rs1814012663
|
|
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)
|
rs1813907455
|
|
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
|
|
|
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
|
|
|
NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys)
|
rs2086218922
|
|
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs)
|
rs1564628365
|
|
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
|
|
|
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
|
|
|
NM_012464.5(TLL1):c.1472A>G (p.Lys491Arg)
|
|
|
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)
|
rs900492387
|
|
NM_013450.4(BAZ2B):c.1435del (p.His479fs)
|
|
|
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
|
|
|
NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)
|
rs1576949430
|
|
NM_013450.4(BAZ2B):c.2152C>T (p.Leu718Phe)
|
|
|
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter)
|
rs767318278
|
|
NM_013450.4(BAZ2B):c.2T>C (p.Met1Thr)
|
|
|
NM_013450.4(BAZ2B):c.3075+3_3075+6del
|
|
|
NM_013450.4(BAZ2B):c.502G>A (p.Gly168Ser)
|
|
|
NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)
|
rs1575883384
|
|
NM_014008.5(CCDC22):c.909+122G>A
|
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
NM_014363.6(SACS):c.3655C>T (p.Pro1219Ser)
|
rs2137633545
|
|
NM_014423.4(AFF4):c.2896C>T (p.Pro966Ser)
|
|
|
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr)
|
rs200378599
|
|
NM_014795.4(ZEB2):c.2886+1G>A
|
rs1703257054
|
|
NM_015100.4(POGZ):c.2849dup (p.Val951fs)
|
rs1653560615
|
|
NM_015330.6(SPECC1L):c.3137_3139del (p.Phe1046del)
|
rs2146820479
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015631.6(TCTN3):c.338_341del (p.His113fs)
|
rs761798713
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter)
|
rs3769148
|
|
NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter)
|
rs377685637
|
|
NM_016734.3(PAX5):c.157G>C (p.Asp53His)
|
rs1337956293
|
|
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)
|
rs2132424384
|
|
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp)
|
rs2132194720
|
|
NM_016734.3(PAX5):c.962C>A (p.Pro321His)
|
rs577863510
|
|
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met)
|
rs200445152
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)
|
rs1231245538
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
NM_017780.4(CHD7):c.282del (p.Asn96fs)
|
rs1563559321
|
|
NM_017780.4(CHD7):c.519del (p.Pro174fs)
|
rs1809050272
|
|
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs)
|
rs2150805748
|
|
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)
|
rs1554603970
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)
|
rs1248439783
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
|
|
NM_020117.11(LARS1):c.903del (p.Gln302fs)
|
rs749373022
|
|
NM_020436.5(SALL4):c.1068del (p.Lys357fs)
|
rs2122964551
|
|
NM_020436.5(SALL4):c.1693C>T (p.Pro565Ser)
|
|
|
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)
|
rs1555740650
|
|
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)
|
rs1555740394
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del)
|
rs764632652
|
|
NM_021728.4(OTX2):c.471_474dup (p.Ile159fs)
|
|
|
NM_022041.4(GAN):c.861dup (p.Pro288fs)
|
|
|
NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)
|
rs2105371700
|
|
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter)
|
rs104893739
|
|
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)
|
|
|
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter)
|
rs563259198
|
|
NM_024105.4(ALG12):c.930_931del (p.Arg311fs)
|
rs1569174722
|
|
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)
|
rs281864983
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024596.5(MCPH1):c.586del (p.Gln196fs)
|
rs1803595754
|
|
NM_024649.5(BBS1):c.951+1G>T
|
rs746875134
|
|
NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn)
|
rs1713133035
|
|
NM_024757.5(EHMT1):c.2625del (p.Pro876_Met877insTer)
|
rs2137381305
|
|
NM_032271.3(TRAF7):c.1886G>A (p.Ser629Asn)
|
rs2093135960
|
|
NM_032436.4(CHAMP1):c.1741del (p.Glu581fs)
|
rs2139421763
|
|
NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val)
|
rs1795508585
|
|
NM_033026.6(PCLO):c.824_826del (p.Gln275del)
|
rs565675570
|
|
NM_052988.5(CDK10):c.299_300dup (p.Leu101fs)
|
rs2151576627
|
|
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)
|
rs1816565787
|
|
NM_130466.4(UBE3B):c.2624dup (p.Asn875fs)
|
rs2136102483
|
|
NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro)
|
rs2136147852
|
|
NM_133379.5(TTN):c.11106G>C (p.Leu3702Phe)
|
|
|
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys)
|
rs1744586399
|
|
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro)
|
rs1561207924
|
|
NM_138422.4(ADAT3):c.586del (p.Ala196fs)
|
rs1555837861
|
|
NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer)
|
rs2141721054
|
|
NM_152274.5(CCNQ):c.651G>A (p.Trp217Ter)
|
rs2148299424
|
|
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)
|
rs768335581
|
|
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter)
|
rs1602068260
|
|
NM_152743.4(BRAT1):c.586C>T (p.Gln196Ter)
|
|
|
NM_153704.6(TMEM67):c.1021G>A (p.Gly341Arg)
|
|
|
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
|
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)
|
|
|
NM_178140.4(PDZD2):c.5108G>C (p.Ser1703Thr)
|
|
|
NM_178857.6(RP1L1):c.6689C>A (p.Thr2230Asn)
|
|
|
NM_181486.4(TBX5):c.454C>G (p.Leu152Val)
|
rs2136416738
|
|
NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp)
|
rs202195179
|
|
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
|
|
|
NM_203475.3(PORCN):c.846-2A>G
|
|
|
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln)
|
rs1349009265
|
|
NM_207361.5(FREM2):c.[4031G>A];[4558C>T]
|
|
|
NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)
|
|
|
NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe)
|
rs1555261576
|
|
NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del)
|
rs775394591
|
|
Single allele
|
|
|