NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)
|
rs778909195
|
0.00003
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)
|
rs1399711421
|
0.00001
|
GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)
|
|
|
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)
|
|
|
GRCh37/hg19 11p13(chr11:31541617-31813509)
|
|
|
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)
|
|
|
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)
|
|
|
GRCh37/hg19 11q25(chr11:133325079-134157243)
|
|
|
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310)
|
|
|
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810184-29213896)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810397-28525505)
|
|
|
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
|
|
|
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457)
|
|
|
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689)
|
|
|
GRCh37/hg19 16p11.2(chr16:28529940-28906458)
|
|
|
GRCh37/hg19 16p11.2(chr16:28734571-29043450)
|
|
|
GRCh37/hg19 16p11.2(chr16:29042050-30199025)
|
|
|
GRCh37/hg19 16p11.2(chr16:29532264-30271237)
|
|
|
GRCh37/hg19 16p11.2(chr16:29595483-30199713)
|
|
|
GRCh37/hg19 16p11.2(chr16:29673203-30133233)
|
|
|
GRCh37/hg19 16p11.2(chr16:29673203-30199713)
|
|
|
GRCh37/hg19 16p11.2(chr16:29678569-30199402)
|
|
|
GRCh37/hg19 16p11.2(chr16:29678569-30199578)
|
|
|
GRCh37/hg19 16p11.2(chr16:29727054-29969912)
|
|
|
GRCh37/hg19 16p11.2(chr16:29827174-30198041)
|
|
|
GRCh37/hg19 16p12.2(chr16:21884192-22288219)
|
|
|
GRCh37/hg19 16p12.2(chr16:21964083-22386845)
|
|
|
GRCh37/hg19 16p12.2(chr16:21976691-22386881)
|
|
|
GRCh37/hg19 16p13.3(chr16:109978-4316797)
|
|
|
GRCh37/hg19 17p11.2(chr17:16842991-20217316)
|
|
|
GRCh37/hg19 17p12(chr17:14063251-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14101029-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15422557)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15551814)
|
|
|
GRCh37/hg19 17p12(chr17:14105874-15611546)
|
|
|
GRCh37/hg19 17p12(chr17:14110451-15449097)
|
|
|
GRCh37/hg19 17p12(chr17:14128550-15422557)
|
|
|
GRCh37/hg19 17q12(chr17:34437475-36214026)
|
|
|
GRCh37/hg19 17q12(chr17:34819191-36104803)
|
|
|
GRCh37/hg19 17q12(chr17:34819191-36194230)
|
|
|
GRCh37/hg19 17q12(chr17:34842059-36214026)
|
|
|
GRCh37/hg19 17q12(chr17:34848678-36194230)
|
|
|
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)
|
|
|
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122)
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678)
|
|
|
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)
|
|
|
GRCh37/hg19 22q11.21(chr22:18609712-21408430)
|
|
|
GRCh37/hg19 22q11.21(chr22:18611223-21408430)
|
|
|
GRCh37/hg19 22q11.21(chr22:18650745-21460220)
|
|
|
GRCh37/hg19 22q11.21(chr22:18650803-21386010)
|
|
|
GRCh37/hg19 22q11.21(chr22:18650803-21460220)
|
|
|
GRCh37/hg19 22q11.21(chr22:18892575-20308800)
|
|
|
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
|
|
|
GRCh37/hg19 22q11.21(chr22:18900755-21075586)
|
|
|
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
|
|
|
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
|
|
|
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
|
|
|
GRCh37/hg19 22q11.21(chr22:18912514-21431174)
|
|
|
GRCh37/hg19 22q11.21(chr22:18912514-21922035)
|
|
|
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
|
|
|
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
|
|
|
GRCh37/hg19 22q11.21(chr22:18923898-21431174)
|
|
|
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)
|
|
|
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)
|
|
|
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)
|
|
|
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
|
|
|
GRCh37/hg19 22q13.33(chr22:51132804-51144365)
|
|
|
GRCh37/hg19 2q13(chr2:110824957-110983703)
|
|
|
GRCh37/hg19 2q33.1(chr2:200213361-200233633)
|
|
|
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)
|
|
|
GRCh37/hg19 2q37.3(chr2:239071623-243048760)
|
|
|
GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)
|
|
|
GRCh37/hg19 4p16.3(chr4:1305802-2460571)
|
|
|
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)
|
|
|
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)
|
|
|
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)
|
|
|
GRCh37/hg19 7q11.23(chr7:72700996-74142190)
|
|
|
GRCh37/hg19 7q11.23(chr7:72721449-73959106)
|
|
|
GRCh37/hg19 7q11.23(chr7:72744494-74339044)
|
|
|
GRCh37/hg19 7q11.23(chr7:72744494-76038818)
|
|
|
GRCh37/hg19 7q11.23(chr7:72772522-74133319)
|
|
|
GRCh37/hg19 8q24.3(chr8:144879444-145199846)
|
|
|
GRCh37/hg19 Xq28(chrX:152980470-153032459)
|
|
|
GRCh37/hg19 Xq28(chrX:153174571-153609996)
|
|
|
NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del
|
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.959+2T>C
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter)
|
rs1725000714
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001134673.4(NFIA):c.89G>A (p.Trp30Ter)
|
rs1646254633
|
|
NM_001145358.2(SIN3A):c.1229del (p.Lys410fs)
|
rs2073599549
|
|
NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs)
|
rs2073271481
|
|
NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)
|
|
|
NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter)
|
rs1688726794
|
|
NM_001172509.2(SATB2):c.115dup (p.Ser39fs)
|
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.913C>T (p.Gln305Ter)
|
|
|
NM_001256447.2(BCAP31):c.-44-270C>A
|
rs1057518721
|
|
NM_001372044.2(SHANK3):c.1961+1G>A
|
|
|
NM_001372044.2(SHANK3):c.574A>T (p.Lys192Ter)
|
rs2082934908
|
|
NM_001378120.1(MBD5):c.4934C>A (p.Ser1645Ter)
|
rs1559099927
|
|
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs)
|
rs1936852915
|
|
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)
|
rs869025321
|
|
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter)
|
rs1592099852
|
|
NM_016628.5(WAC):c.1101dup (p.Pro368fs)
|
rs1841061596
|
|
NM_016628.5(WAC):c.310del (p.His104fs)
|
rs1589196229
|
|
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)
|
rs398122416
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)
|
rs398122418
|
|
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs)
|
rs398122417
|
|
NM_022455.5(NSD1):c.4302+1G>A
|
rs1562246533
|
|
NM_022455.5(NSD1):c.4378+1G>T
|
rs587784115
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
NM_022455.5(NSD1):c.5724del (p.Ser1909fs)
|
rs1562292879
|
|
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)
|
rs797045057
|
|
NM_022455.5(NSD1):c.788_789del (p.Thr263fs)
|
rs1756282703
|
|
NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter)
|
rs797045058
|
|
NM_078480.3(PUF60):c.1381-2A>G
|
rs1057518681
|
|
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)
|
rs1816565787
|
|
Single allele
|
|
|