NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
|
rs149091975
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)
|
rs138738227
|
0.00048
|
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr)
|
rs148934011
|
0.00031
|
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile)
|
rs147447659
|
0.00029
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys)
|
rs199783352
|
0.00023
|
NM_003070.5(SMARCA2):c.2348+8A>C
|
rs771019219
|
0.00020
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
NM_003922.4(HERC1):c.577A>G (p.Ile193Val)
|
rs768690717
|
0.00019
|
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)
|
rs374549966
|
0.00015
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu)
|
rs142516047
|
0.00012
|
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp)
|
rs773708821
|
0.00011
|
NM_001393530.1(MATN4):c.1688-7C>A
|
rs200891394
|
0.00011
|
NM_138927.4(SON):c.3785C>T (p.Thr1262Ile)
|
rs144772325
|
0.00011
|
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)
|
rs374546223
|
0.00009
|
NM_003073.5(SMARCB1):c.628+1487A>G
|
rs185591492
|
0.00009
|
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)
|
rs587778463
|
0.00009
|
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)
|
rs369459749
|
0.00009
|
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met)
|
rs398124331
|
0.00009
|
NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu)
|
rs369627050
|
0.00008
|
NM_005993.5(TBCD):c.2693C>T (p.Thr898Ile)
|
rs375374940
|
0.00008
|
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)
|
rs149569330
|
0.00008
|
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)
|
rs201150987
|
0.00007
|
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His)
|
rs374896394
|
0.00006
|
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His)
|
rs757667036
|
0.00006
|
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)
|
rs372361502
|
0.00006
|
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val)
|
rs755338885
|
0.00006
|
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys)
|
rs146209687
|
0.00006
|
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)
|
rs776119333
|
0.00006
|
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)
|
rs145732429
|
0.00006
|
NM_001080517.3(SETD5):c.3319G>A (p.Val1107Ile)
|
rs764498622
|
0.00005
|
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln)
|
rs149633993
|
0.00005
|
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser)
|
rs544407449
|
0.00005
|
NM_003482.4(KMT2D):c.2798-7C>T
|
rs1161537279
|
0.00005
|
NM_003922.4(HERC1):c.-26-25134A>G
|
rs964673768
|
0.00005
|
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln)
|
rs768858988
|
0.00005
|
NM_013275.6(ANKRD11):c.4259T>C (p.Ile1420Thr)
|
rs142828350
|
0.00005
|
NM_030632.3(ASXL3):c.5309G>A (p.Gly1770Glu)
|
rs776403744
|
0.00005
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)
|
rs140929996
|
0.00004
|
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)
|
rs777466386
|
0.00004
|
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln)
|
rs140529566
|
0.00004
|
NM_001330288.2(SMARCC2):c.2716-3del
|
rs778570250
|
0.00004
|
NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys)
|
rs139028803
|
0.00004
|
NM_001371986.1(UNC80):c.1910A>G (p.His637Arg)
|
rs188667729
|
0.00004
|
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)
|
rs1001497433
|
0.00004
|
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)
|
rs767232021
|
0.00004
|
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu)
|
rs1054025123
|
0.00004
|
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser)
|
rs1324674144
|
0.00004
|
NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg)
|
rs200023211
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu)
|
rs201846240
|
0.00004
|
NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr)
|
rs199902670
|
0.00004
|
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly)
|
rs778737366
|
0.00004
|
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)
|
rs375163006
|
0.00004
|
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
|
rs1210016465
|
0.00004
|
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr)
|
rs578033982
|
0.00004
|
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn)
|
rs371824384
|
0.00004
|
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn)
|
rs371073215
|
0.00004
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys)
|
rs774677234
|
0.00004
|
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
0.00003
|
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val)
|
rs746338306
|
0.00003
|
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg)
|
rs1263635747
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
0.00003
|
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met)
|
rs146164750
|
0.00003
|
NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr)
|
rs1007969036
|
0.00003
|
NM_003482.4(KMT2D):c.8366+6G>T
|
rs749728191
|
0.00003
|
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr)
|
rs199776442
|
0.00003
|
NM_007129.5(ZIC2):c.1361C>T (p.Ser454Phe)
|
rs969318004
|
0.00003
|
NM_014141.6(CNTNAP2):c.102A>C (p.Lys34Asn)
|
rs779436784
|
0.00003
|
NM_014795.4(ZEB2):c.-9C>T
|
rs730881183
|
0.00003
|
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser)
|
rs760985201
|
0.00003
|
NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp)
|
rs765815936
|
0.00003
|
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)
|
rs758637644
|
0.00003
|
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr)
|
rs768721417
|
0.00003
|
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val)
|
rs578203757
|
0.00003
|
NM_170606.3(KMT2C):c.6604C>A (p.Pro2202Thr)
|
rs760297553
|
0.00003
|
NM_170606.3(KMT2C):c.8369T>C (p.Val2790Ala)
|
rs771525847
|
0.00003
|
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys)
|
rs151310492
|
0.00002
|
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu)
|
rs780880323
|
0.00002
|
NM_001080517.3(SETD5):c.1213C>T (p.His405Tyr)
|
rs758782896
|
0.00002
|
NM_001080517.3(SETD5):c.2855C>T (p.Pro952Leu)
|
rs1475256332
|
0.00002
|
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys)
|
rs782623689
|
0.00002
|
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser)
|
rs1461830365
|
0.00002
|
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs)
|
rs752788954
|
0.00002
|
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr)
|
rs772189962
|
0.00002
|
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg)
|
rs758380489
|
0.00002
|
NM_001374353.1(GLI2):c.1906-4G>A
|
rs373446304
|
0.00002
|
NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser)
|
rs762741274
|
0.00002
|
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr)
|
rs1297634063
|
0.00002
|
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly)
|
rs751660162
|
0.00002
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
NM_005360.5(MAF):c.743C>A (p.Pro248Gln)
|
rs764041224
|
0.00002
|
NM_005862.3(STAG1):c.395-8T>C
|
rs746224826
|
0.00002
|
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val)
|
rs1295137307
|
0.00002
|
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His)
|
rs752827461
|
0.00002
|
NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala)
|
rs1226947726
|
0.00002
|
NM_013275.6(ANKRD11):c.2860G>A (p.Ala954Thr)
|
rs745768322
|
0.00002
|
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)
|
rs372896387
|
0.00002
|
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val)
|
rs368975225
|
0.00002
|
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu)
|
rs1468262694
|
0.00002
|
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val)
|
rs558768145
|
0.00002
|
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)
|
rs763353781
|
0.00002
|
NM_170606.3(KMT2C):c.10564A>G (p.Ile3522Val)
|
rs571653303
|
0.00002
|
NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys)
|
rs587778494
|
0.00002
|
NM_170606.3(KMT2C):c.8471C>T (p.Thr2824Met)
|
rs780982767
|
0.00002
|
NM_170606.3(KMT2C):c.9973A>T (p.Ser3325Cys)
|
rs778808532
|
0.00002
|
NM_000264.5(PTCH1):c.2560+6A>G
|
rs1414242958
|
0.00001
|
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)
|
rs548852837
|
0.00001
|
NM_001080517.3(SETD5):c.1592G>A (p.Arg531Gln)
|
rs1257894154
|
0.00001
|
NM_001080517.3(SETD5):c.3362G>A (p.Arg1121Gln)
|
rs753829449
|
0.00001
|
NM_001080517.3(SETD5):c.4103C>T (p.Thr1368Ile)
|
rs781208584
|
0.00001
|
NM_001083962.2(TCF4):c.*10A>G
|
rs1599336148
|
0.00001
|
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser)
|
rs761104318
|
0.00001
|
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His)
|
rs747873220
|
0.00001
|
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser)
|
rs782439084
|
0.00001
|
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp)
|
rs776778840
|
0.00001
|
NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu)
|
rs1026710468
|
0.00001
|
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile)
|
rs745970630
|
0.00001
|
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys)
|
rs764177776
|
0.00001
|
NM_001374353.1(GLI2):c.1183-54C>T
|
rs1682377263
|
0.00001
|
NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly)
|
rs754008467
|
0.00001
|
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys)
|
rs528801298
|
0.00001
|
NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)
|
rs1850109343
|
0.00001
|
NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln)
|
rs760399308
|
0.00001
|
NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys)
|
rs1327727725
|
0.00001
|
NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu)
|
rs1186261410
|
0.00001
|
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys)
|
rs772897576
|
0.00001
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
NM_003073.5(SMARCB1):c.1118+6C>G
|
rs200675113
|
0.00001
|
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala)
|
rs771639613
|
0.00001
|
NM_003244.4(TGIF1):c.16+1829G>A
|
rs764152878
|
0.00001
|
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro)
|
rs1276517318
|
0.00001
|
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)
|
rs750774484
|
0.00001
|
NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His)
|
rs757710580
|
0.00001
|
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)
|
rs771209224
|
0.00001
|
NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser)
|
rs1458393564
|
0.00001
|
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)
|
rs745599611
|
0.00001
|
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)
|
rs976882824
|
0.00001
|
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)
|
rs1266718915
|
0.00001
|
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn)
|
rs779260688
|
0.00001
|
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)
|
rs587778458
|
0.00001
|
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)
|
rs587783724
|
0.00001
|
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)
|
rs758685548
|
0.00001
|
NM_003922.4(HERC1):c.11078C>T (p.Thr3693Ile)
|
rs755353533
|
0.00001
|
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu)
|
rs1556832305
|
0.00001
|
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met)
|
rs2050571775
|
0.00001
|
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)
|
rs773159964
|
0.00001
|
NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala)
|
rs1250124959
|
0.00001
|
NM_005445.4(SMC3):c.1580A>G (p.His527Arg)
|
rs756254563
|
0.00001
|
NM_006245.4(PPP2R5D):c.1303A>G (p.Ile435Val)
|
rs755300874
|
0.00001
|
NM_006245.4(PPP2R5D):c.1609G>A (p.Glu537Lys)
|
rs1410172198
|
0.00001
|
NM_006245.4(PPP2R5D):c.394G>A (p.Val132Met)
|
rs1437337804
|
0.00001
|
NM_006268.5(DPF2):c.900C>T (p.Arg300=)
|
rs775695232
|
0.00001
|
NM_006280.3(SSR4):c.194C>T (p.Ala65Val)
|
rs781822476
|
0.00001
|
NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala)
|
rs767130314
|
0.00001
|
NM_007118.4(TRIO):c.53C>G (p.Ala18Gly)
|
rs1429556466
|
0.00001
|
NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn)
|
rs927883781
|
0.00001
|
NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met)
|
rs1422150009
|
0.00001
|
NM_007363.5(NONO):c.107C>T (p.Pro36Leu)
|
rs750695677
|
0.00001
|
NM_013275.6(ANKRD11):c.1286C>T (p.Ser429Leu)
|
rs370109948
|
0.00001
|
NM_013275.6(ANKRD11):c.4217A>T (p.Tyr1406Phe)
|
rs943784682
|
0.00001
|
NM_013275.6(ANKRD11):c.4471G>A (p.Glu1491Lys)
|
rs1296165234
|
0.00001
|
NM_013275.6(ANKRD11):c.6226C>T (p.Pro2076Ser)
|
rs1314385190
|
0.00001
|
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr)
|
rs751491210
|
0.00001
|
NM_014423.4(AFF4):c.1589G>T (p.Gly530Val)
|
rs1411633307
|
0.00001
|
NM_014423.4(AFF4):c.2015A>G (p.Asn672Ser)
|
rs959176441
|
0.00001
|
NM_015100.4(POGZ):c.163A>G (p.Ile55Val)
|
rs768095572
|
0.00001
|
NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys)
|
rs749648996
|
0.00001
|
NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg)
|
rs765820329
|
0.00001
|
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys)
|
rs2041009697
|
0.00001
|
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly)
|
rs1332032276
|
0.00001
|
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
|
rs781324695
|
0.00001
|
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg)
|
rs369933421
|
0.00001
|
NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe)
|
rs1475544687
|
0.00001
|
NM_015570.4(AUTS2):c.1673C>T (p.Thr558Met)
|
rs552275264
|
0.00001
|
NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr)
|
rs1203289728
|
0.00001
|
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp)
|
rs372699478
|
0.00001
|
NM_018026.4(PACS1):c.1992C>T (p.Leu664=)
|
rs780838334
|
0.00001
|
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu)
|
rs1857288713
|
0.00001
|
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)
|
rs749141299
|
0.00001
|
NM_022552.5(DNMT3A):c.113G>A (p.Arg38His)
|
rs369618387
|
0.00001
|
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile)
|
rs1339329131
|
0.00001
|
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys)
|
rs1064796750
|
0.00001
|
NM_030632.3(ASXL3):c.1898A>T (p.Gln633Leu)
|
rs373530168
|
0.00001
|
NM_030632.3(ASXL3):c.4439C>T (p.Thr1480Met)
|
rs747561057
|
0.00001
|
NM_030632.3(ASXL3):c.4465G>C (p.Val1489Leu)
|
rs576992025
|
0.00001
|
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn)
|
rs936181213
|
0.00001
|
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg)
|
rs149839441
|
0.00001
|
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser)
|
rs794727522
|
0.00001
|
NM_030665.4(RAI1):c.514C>T (p.His172Tyr)
|
rs143161740
|
0.00001
|
NM_052867.4(NALCN):c.3587A>C (p.Asn1196Thr)
|
rs781040583
|
0.00001
|
NM_052867.4(NALCN):c.4892G>A (p.Ser1631Asn)
|
rs920545999
|
0.00001
|
NM_052867.4(NALCN):c.5138G>A (p.Gly1713Asp)
|
rs2031085413
|
0.00001
|
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg)
|
rs1411433335
|
0.00001
|
NM_133433.4(NIPBL):c.-79-11559C>T
|
rs1436464402
|
0.00001
|
NM_138927.4(SON):c.4179G>T (p.Glu1393Asp)
|
rs769227177
|
0.00001
|
NM_138927.4(SON):c.961A>C (p.Ser321Arg)
|
rs752432317
|
0.00001
|
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln)
|
rs913075497
|
0.00001
|
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met)
|
rs1359351082
|
0.00001
|
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg)
|
rs1436936380
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe)
|
rs1016035749
|
0.00001
|
NM_170606.3(KMT2C):c.10207C>T (p.Arg3403Cys)
|
rs201762858
|
0.00001
|
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)
|
rs762380795
|
0.00001
|
NM_170606.3(KMT2C):c.13354C>A (p.Leu4452Ile)
|
rs1259070282
|
0.00001
|
NM_170606.3(KMT2C):c.508A>G (p.Lys170Glu)
|
rs200182945
|
0.00001
|
NM_170606.3(KMT2C):c.5512C>T (p.Pro1838Ser)
|
rs776192339
|
0.00001
|
NM_170606.3(KMT2C):c.7841G>T (p.Gly2614Val)
|
rs767634921
|
0.00001
|
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg)
|
rs545625106
|
0.00001
|
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala)
|
rs972002974
|
0.00001
|
NM_183381.3(RNF13):c.613A>G (p.Lys205Glu)
|
rs771241791
|
0.00001
|
NC_000007.14:g.152175569_152524553dup
|
|
|
NC_000022.11:g.23774226_23859697dup
|
|
|
NM_000264.5(PTCH1):c.2561-3T>C
|
rs2136690024
|
|
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg)
|
rs1057520313
|
|
NM_000381.4(MID1):c.1913_1936inv (p.Cys638_Lys646delinsLeuPheHisThrValLysValGlyGln)
|
|
|
NM_001031689.3(PLAA):c.481C>T (p.Pro161Ser)
|
rs778429815
|
|
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr)
|
rs2147328768
|
|
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)
|
|
|
NM_001080517.3(SETD5):c.1711G>T (p.Val571Phe)
|
rs768631076
|
|
NM_001080517.3(SETD5):c.3011C>T (p.Pro1004Leu)
|
rs1335595318
|
|
NM_001080517.3(SETD5):c.3341G>T (p.Gly1114Val)
|
rs201189533
|
|
NM_001080517.3(SETD5):c.719G>A (p.Ser240Asn)
|
rs756127804
|
|
NM_001081550.2(THOC2):c.4519+3A>G
|
rs2046785257
|
|
NM_001083603.3(PTCH1):c.4del (p.Glu2fs)
|
rs752765582
|
|
NM_001083962.2(TCF4):c.549+23042C>T
|
rs2147664454
|
|
NM_001101.5(ACTB):c.802+8G>C
|
rs2128241257
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser)
|
rs2073605317
|
|
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg)
|
rs768415150
|
|
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe)
|
rs2073861256
|
|
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg)
|
rs2073227641
|
|
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys)
|
rs760200525
|
|
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=)
|
rs2141368447
|
|
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser)
|
rs2134413643
|
|
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr)
|
rs1437526128
|
|
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp)
|
rs1949190966
|
|
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp)
|
rs782407414
|
|
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro)
|
rs1949992868
|
|
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His)
|
rs1555041629
|
|
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu)
|
rs2134384180
|
|
NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg)
|
rs1749765020
|
|
NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg)
|
rs1749202438
|
|
NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter)
|
rs2112436440
|
|
NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr)
|
rs2112435759
|
|
NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp)
|
rs2112522658
|
|
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del)
|
rs761350619
|
|
NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser)
|
rs2147985031
|
|
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)
|
rs760601613
|
|
NM_001330288.2(SMARCC2):c.111+2T>C
|
rs892217209
|
|
NM_001330288.2(SMARCC2):c.1142-1G>C
|
rs1875550324
|
|
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala)
|
rs1877434002
|
|
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro)
|
rs762674487
|
|
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn)
|
rs1872594253
|
|
NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu)
|
rs2053148979
|
|
NM_001360.3(DHCR7):c.626+1013G>A
|
|
|
NM_001365999.1(SZT2):c.*1719del
|
rs776828656
|
|
NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser)
|
rs2153933426
|
|
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp)
|
rs538720577
|
|
NM_001367561.1(DOCK7):c.389+2061A>G
|
rs2149688351
|
|
NM_001371986.1(UNC80):c.9934C>A (p.Leu3312Met)
|
rs2125036339
|
|
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile)
|
rs2104869716
|
|
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp)
|
rs2105094470
|
|
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1])
|
rs1562376911
|
|
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly)
|
rs2114986662
|
|
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp)
|
rs143370913
|
|
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu)
|
rs779239519
|
|
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg)
|
rs1554226059
|
|
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys)
|
rs2128290781
|
|
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys)
|
rs1554235555
|
|
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu)
|
rs146468586
|
|
NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met)
|
rs532004418
|
|
NM_001394372.1(BICRA):c.2370C>G (p.His790Gln)
|
rs2123605781
|
|
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu)
|
rs2145740050
|
|
NM_001429.4(EP300):c.301G>A (p.Gly101Ser)
|
rs762557708
|
|
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg)
|
rs2145762737
|
|
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg)
|
rs748325077
|
|
NM_002397.5(MEF2C):c.-142-25787T>G
|
rs2153377579
|
|
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr)
|
rs1440750558
|
|
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg)
|
rs2100925789
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003070.5(SMARCA2):c.3763-1230G>C
|
rs1453505894
|
|
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu)
|
rs1827870545
|
|
NM_003072.5(SMARCA4):c.3383-36C>T
|
rs2146595699
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln)
|
rs1555795999
|
|
NM_003073.5(SMARCB1):c.1118+4C>G
|
rs374197835
|
|
NM_003079.5(SMARCE1):c.370-10T>C
|
rs763801620
|
|
NM_003107.3(SOX4):c.149G>C (p.Ser50Thr)
|
rs749184422
|
|
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs)
|
rs1763101563
|
|
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla)
|
rs542004893
|
|
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr)
|
rs2103277224
|
|
NM_003403.5(YY1):c.202G>A (p.Ala68Thr)
|
rs1246486173
|
|
NM_003403.5(YY1):c.608A>G (p.Lys203Arg)
|
rs1890700748
|
|
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)
|
rs1943073751
|
|
NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val)
|
rs949941431
|
|
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)
|
rs772169265
|
|
NM_003482.4(KMT2D):c.3734C>G (p.Ser1245Cys)
|
rs2120641688
|
|
NM_003482.4(KMT2D):c.3898A>G (p.Ile1300Val)
|
rs2120638267
|
|
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln)
|
rs202217665
|
|
NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu)
|
rs2120525921
|
|
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr)
|
rs2120520690
|
|
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln)
|
rs1943386777
|
|
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)
|
rs1291730464
|
|
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg)
|
rs900654745
|
|
NM_003801.4(GPAA1):c.1051G>C (p.Glu351Gln)
|
rs2129945017
|
|
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr)
|
rs2146839898
|
|
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu)
|
rs2146821316
|
|
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu)
|
rs782081983
|
|
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp)
|
rs2051340680
|
|
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly)
|
rs2145532453
|
|
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)
|
rs1554400237
|
|
NM_004380.3(CREBBP):c.1941+8G>A
|
rs761673254
|
|
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)
|
rs2052155279
|
|
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)
|
rs2151307787
|
|
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)
|
rs2151303211
|
|
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)
|
rs781438241
|
|
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)
|
rs1239213391
|
|
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr)
|
rs2129470135
|
|
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr)
|
rs2100568346
|
|
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter)
|
rs2100406692
|
|
NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser)
|
rs1642202172
|
|
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala)
|
rs2135806003
|
|
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)
|
rs2092320033
|
|
NM_005343.4(HRAS):c.-54+3G>A
|
|
|
NM_005360.5(MAF):c.487G>C (p.Val163Leu)
|
rs1913845255
|
|
NM_005360.5(MAF):c.860T>G (p.Ile287Ser)
|
|
|
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln)
|
rs2134752688
|
|
NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn)
|
rs2107814357
|
|
NM_005862.3(STAG1):c.2196+4167T>G
|
rs2107715024
|
|
NM_005862.3(STAG1):c.298-8776C>T
|
rs1190662692
|
|
NM_005862.3(STAG1):c.676+5379A>G
|
rs2107894849
|
|
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp)
|
rs1018092020
|
|
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys)
|
rs2124788689
|
|
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys)
|
rs1292150071
|
|
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu)
|
rs1285265984
|
|
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr)
|
rs2124741075
|
|
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp)
|
rs2081039231
|
|
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu)
|
rs2124141958
|
|
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe)
|
rs1240590332
|
|
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys)
|
rs2130462808
|
|
NM_006565.4(CTCF):c.203C>G (p.Pro68Arg)
|
rs752391941
|
|
NM_006565.4(CTCF):c.529A>G (p.Thr177Ala)
|
rs1430339540
|
|
NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg)
|
rs2053005047
|
|
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu)
|
rs2150932891
|
|
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys)
|
rs745933378
|
|
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp)
|
rs1240578716
|
|
NM_007118.4(TRIO):c.2046+6G>T
|
rs1741451308
|
|
NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met)
|
rs2152389359
|
|
NM_007118.4(TRIO):c.7001G>C (p.Ser2334Thr)
|
rs375274497
|
|
NM_007118.4(TRIO):c.8019+6T>G
|
rs2126677662
|
|
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys)
|
rs2132074046
|
|
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile)
|
rs1054836015
|
|
NM_012330.4(KAT6B):c.622-53842A>G
|
rs2132837198
|
|
NM_013275.6(ANKRD11):c.-145+15205C>T
|
rs2057211213
|
|
NM_013275.6(ANKRD11):c.-145+4A>T
|
rs895163510
|
|
NM_013275.6(ANKRD11):c.-60+48691C>T
|
|
|
NM_013275.6(ANKRD11):c.1056C>G (p.Asp352Glu)
|
rs149211555
|
|
NM_013275.6(ANKRD11):c.1357A>G (p.Lys453Glu)
|
rs2151764903
|
|
NM_013275.6(ANKRD11):c.227-269A>G
|
rs2151799587
|
|
NM_013275.6(ANKRD11):c.3653A>C (p.Lys1218Thr)
|
rs2151753979
|
|
NM_013275.6(ANKRD11):c.3725C>T (p.Ala1242Val)
|
|
|
NM_013275.6(ANKRD11):c.4265T>G (p.Leu1422Trp)
|
rs2151750772
|
|
NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln)
|
rs147690079
|
|
NM_013275.6(ANKRD11):c.5681C>G (p.Pro1894Arg)
|
rs760261187
|
|
NM_013275.6(ANKRD11):c.6043T>C (p.Tyr2015His)
|
rs1395480845
|
|
NM_013275.6(ANKRD11):c.7114C>T (p.Arg2372Cys)
|
rs1192971319
|
|
NM_014141.6(CNTNAP2):c.2384-4637del
|
rs2116601181
|
|
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr)
|
rs796052382
|
|
NM_014423.4(AFF4):c.1520_1521delinsAT (p.Arg507His)
|
|
|
NM_014423.4(AFF4):c.2144T>C (p.Ile715Thr)
|
rs755145233
|
|
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
|
|
|
NM_014423.4(AFF4):c.437G>T (p.Ser146Ile)
|
rs758814088
|
|
NM_014795.4(ZEB2):c.3574G>C (p.Asp1192His)
|
rs1703125939
|
|
NM_014795.4(ZEB2):c.916G>A (p.Gly306Ser)
|
rs113893117
|
|
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile)
|
rs541476793
|
|
NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del)
|
rs1653635853
|
|
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer)
|
rs2040777042
|
|
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly)
|
rs1878087235
|
|
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
|
rs1363042572
|
|
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr)
|
rs2137275405
|
|
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr)
|
rs748040838
|
|
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val)
|
rs1272594944
|
|
NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser)
|
rs2145361163
|
|
NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu)
|
rs2145389443
|
|
NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?))
|
rs2145398075
|
|
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly)
|
rs1309097254
|
|
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr)
|
rs1317184946
|
|
NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu)
|
rs771546186
|
|
NM_015570.4(AUTS2):c.1712T>C (p.Val571Ala)
|
rs2129557711
|
|
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu)
|
rs543645962
|
|
NM_015570.4(AUTS2):c.310-100635A>G
|
rs1451461572
|
|
NM_015570.4(AUTS2):c.310-148390G>C
|
rs1787711433
|
|
NM_015570.4(AUTS2):c.624+2202A>G
|
rs2129573053
|
|
NM_015570.4(AUTS2):c.701C>T (p.Ala234Val)
|
rs1328605193
|
|
NM_016284.5(CNOT1):c.-175+5G>A
|
rs1015293911
|
|
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)
|
rs1841460217
|
|
NM_016628.5(WAC):c.275-22319G>T
|
rs2132485043
|
|
NM_017934.7(PHIP):c.1525-8T>C
|
|
|
NM_017934.7(PHIP):c.2201+2092G>A
|
rs1769538513
|
|
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)
|
|
|
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)
|
|
|
NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup)
|
rs749515977
|
|
NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)
|
|
|
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn)
|
rs751638632
|
|
NM_018486.3(HDAC8):c.738-1619G>A
|
rs2148050178
|
|
NM_019023.5(PRMT7):c.-218-3C>G
|
|
|
NM_019023.5(PRMT7):c.1651-8G>A
|
|
|
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His)
|
|
|
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn)
|
|
|
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu)
|
|
|
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys)
|
|
|
NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu)
|
rs1324892287
|
|
NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys)
|
rs1484795800
|
|
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly)
|
rs1718965342
|
|
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu)
|
rs869312936
|
|
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)
|
rs374930132
|
|
NM_030632.3(ASXL3):c.1381A>G (p.Ser461Gly)
|
|
|
NM_030632.3(ASXL3):c.2992G>A (p.Glu998Lys)
|
rs2145417570
|
|
NM_030632.3(ASXL3):c.6335T>A (p.Leu2112Ter)
|
rs2145435948
|
|
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp)
|
rs2143002559
|
|
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp)
|
rs898986244
|
|
NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser)
|
rs771289643
|
|
NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys)
|
rs2133014344
|
|
NM_052867.4(NALCN):c.3209A>G (p.Asn1070Ser)
|
rs1277065548
|
|
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln)
|
rs1317244394
|
|
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr)
|
rs546539357
|
|
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro)
|
rs1178033980
|
|
NM_133433.4(NIPBL):c.5115T>C (p.His1705=)
|
rs2149696602
|
|
NM_138425.4(C12orf57):c.155_166del (p.Gln52_Leu55del)
|
rs782305725
|
|
NM_138927.4(SON):c.1096A>G (p.Lys366Glu)
|
rs772141202
|
|
NM_152564.5(VPS13B):c.-30+5G>A
|
|
|
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu)
|
rs770999005
|
|
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
|
|
|
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala)
|
rs2132580942
|
|
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val)
|
rs182397346
|
|
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys)
|
|
|
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg)
|
rs1376390404
|
|
NM_152564.5(VPS13B):c.5220+20875C>A
|
|
|
NM_152564.5(VPS13B):c.5221-24871G>T
|
rs944094510
|
|
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn)
|
rs2133931905
|
|
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys)
|
rs756143690
|
|
NM_152564.5(VPS13B):c.7050+2243A>G
|
|
|
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
|
|
|
NM_152564.5(VPS13B):c.7941+6T>C
|
|
|
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
|
|
|
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg)
|
rs781004616
|
|
NM_170606.3(KMT2C):c.13513A>G (p.Met4505Val)
|
rs1338474545
|
|
NM_170606.3(KMT2C):c.14329C>T (p.Arg4777Trp)
|
|
|
NM_170606.3(KMT2C):c.1665G>T (p.Met555Ile)
|
rs552470432
|
|
NM_170606.3(KMT2C):c.1876G>A (p.Glu626Lys)
|
rs2095513181
|
|
NM_170606.3(KMT2C):c.2074G>A (p.Val692Ile)
|
rs2095510300
|
|
NM_170606.3(KMT2C):c.2388G>C (p.Met796Ile)
|
rs2129163898
|
|
NM_170606.3(KMT2C):c.4766T>C (p.Ile1589Thr)
|
rs985359158
|
|
NM_170606.3(KMT2C):c.4852T>C (p.Ser1618Pro)
|
rs2129124726
|
|
NM_170606.3(KMT2C):c.7775A>G (p.Asn2592Ser)
|
rs1294128108
|
|
NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser)
|
rs2113818887
|
|
Single allele
|
|
|