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_001211.6(BUB1B):c.2210T>G (p.Leu737Ter)
|
rs759242053
|
0.00004
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
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.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
0.00002
|
NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter)
|
rs200884355
|
0.00002
|
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)
|
rs769350713
|
0.00002
|
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)
|
rs369583279
|
0.00001
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
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.3281C>A (p.Ser1094Ter)
|
rs1472603091
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)
|
rs367543021
|
0.00001
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter)
|
rs767213728
|
0.00001
|
NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter)
|
rs750364303
|
0.00001
|
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)
|
rs28989182
|
0.00001
|
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)
|
rs28989186
|
0.00001
|
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter)
|
rs1403423766
|
0.00001
|
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)
|
rs1399711421
|
0.00001
|
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)
|
rs771182933
|
0.00001
|
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
|
rs1423753702
|
0.00001
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
NC_000002.11:g.(?_148730288)_(149270510_?)del
|
|
|
NC_000002.11:g.(?_149216328)_(149221508_?)dup
|
|
|
NC_000002.11:g.(?_149216328)_(149228050_?)del
|
|
|
NC_000002.11:g.(?_200136914)_(200320780_?)del
|
|
|
NC_000002.11:g.(?_200173463)_(200320760_?)del
|
|
|
NC_000002.12:g.(?_148458739)_(148463939_?)del
|
|
|
NC_000002.12:g.(?_148458739)_(148512961_?)del
|
|
|
NC_000002.12:g.(?_148458759)_(148512941_?)del
|
|
|
NC_000002.12:g.(?_199348681)_(199433534_?)del
|
|
|
NC_000005.10:g.(?_177135094)_(177295469_?)del
|
|
|
NC_000005.10:g.(?_177235801)_(177239885_?)del
|
|
|
NC_000005.10:g.(?_177280545)_(177283948_?)del
|
|
|
NC_000005.10:g.(?_177288799)_(177288945_?)del
|
|
|
NC_000005.10:g.(?_88722584)_(88823808_?)del
|
|
|
NC_000005.10:g.(?_88804588)_(88884466_?)del
|
|
|
NC_000005.10:g.88731902del
|
|
|
NC_000005.9:g.(?_176289625)_(177151363_?)del
|
|
|
NC_000005.9:g.(?_176638041)_(176722460_?)del
|
|
|
NC_000005.9:g.(?_176720813)_(176722460_?)del
|
|
|
NC_000005.9:g.(?_87776690)_(88119605_?)del
|
|
|
NC_000005.9:g.(?_88027526)_(88027738_?)del
|
|
|
NC_000005.9:g.(?_88047654)_(88047880_?)del
|
|
|
NC_000005.9:g.(?_88056982)_(88119605_?)del
|
|
|
NC_000005.9:g.(?_88100395)_(88100638_?)del
|
|
|
NC_000005.9:g.(?_88100395)_(88119605_?)del
|
|
|
NC_000011.10:g.(?_32389048)_(32435355_?)del
|
|
|
NC_000011.10:g.(?_32389058)_(32435345_?)del
|
|
|
NC_000011.10:g.(?_32396247)_(32400054_?)del
|
|
|
NC_000011.10:g.(?_32396251)_(32417660_?)del
|
|
|
NC_000011.10:g.(?_32434690)_(32435345_?)del
|
|
|
NC_000011.10:g.32396408del
|
rs2132942367
|
|
NC_000011.9:g.(?_31284590)_(32456911_?)del
|
|
|
NC_000011.9:g.(?_32410604)_(32460464_?)del
|
|
|
NC_000011.9:g.(?_32421484)_(32421600_?)del
|
|
|
NC_000011.9:g.(?_32456236)_(32460464_?)del
|
|
|
NC_000011.9:g.(?_95523863)_(95564420_?)del
|
|
|
NC_000015.10:g.(?_90747383)_(90751956_?)del
|
|
|
NC_000015.10:g.(?_90747393)_(90815279_?)del
|
|
|
NC_000015.10:g.(?_90749357)_(90765424_?)del
|
|
|
NC_000015.10:g.(?_90754801)_(90754948_?)del
|
|
|
NC_000015.10:g.(?_90769123)_(90769596_?)del
|
|
|
NC_000015.10:g.(?_90782812)_(90785091_?)del
|
|
|
NC_000015.10:g.(?_90790639)_(90790854_?)del
|
|
|
NC_000015.10:g.(?_90790643)_(90790850_?)del
|
|
|
NC_000015.10:g.(?_90811195)_(90811416_?)del
|
|
|
NC_000015.9:g.(?_40453422)_(40457417_?)del
|
|
|
NC_000015.9:g.(?_91290613)_(91312826_?)del
|
|
|
NC_000015.9:g.(?_91290613)_(91354646_?)del
|
|
|
NC_000015.9:g.(?_91290623)_(91290730_?)del
|
|
|
NC_000015.9:g.(?_91290623)_(91298188_?)del
|
|
|
NC_000015.9:g.(?_91295007)_(91295186_?)del
|
|
|
NC_000015.9:g.(?_91326032)_(91326178_?)del
|
|
|
NC_000015.9:g.(?_91333859)_(91334094_?)del
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)del
|
|
|
NC_000022.10:g.(?_18900668)_(19747220_?)del
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)del
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)del
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)del
|
|
|
NC_000022.10:g.(?_19163623)_(19770565_?)del
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)del
|
|
|
NC_000022.10:g.(?_19747167)_(19754390_?)del
|
|
|
NC_000022.10:g.(?_19748454)_19748649del
|
|
|
NC_000022.11:g.(?_19722428)_(19975757_?)del
|
|
|
NC_000022.11:g.(?_19755901)_(19759687_?)del
|
|
|
NC_000022.11:g.(?_19755901)_(19766877_?)del
|
|
|
NC_000022.11:g.(?_19755901)_(19783042_?)del
|
|
|
NC_000022.11:g.(?_19755950)_(19759697_?)del
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1043dup (p.Met348fs)
|
rs1567038003
|
|
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
|
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
|
|
|
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer)
|
rs2151157115
|
|
NM_000057.4(BLM):c.1129del (p.Glu377fs)
|
rs1555419710
|
|
NM_000057.4(BLM):c.1154del (p.Thr385fs)
|
|
|
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter)
|
rs1596228957
|
|
NM_000057.4(BLM):c.1176dup (p.Leu393fs)
|
rs1358266880
|
|
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)
|
rs758132052
|
|
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
|
|
|
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
|
|
|
NM_000057.4(BLM):c.1220+3A>G
|
rs1429490877
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
|
|
|
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)
|
rs887921909
|
|
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
|
|
|
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
|
|
|
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer)
|
rs1895946786
|
|
NM_000057.4(BLM):c.1255del (p.Ser419fs)
|
rs1895946786
|
|
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter)
|
rs749512704
|
|
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer)
|
rs1555419806
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)
|
rs730881428
|
|
NM_000057.4(BLM):c.1361del (p.Asn454fs)
|
rs2151158091
|
|
NM_000057.4(BLM):c.1374del (p.Ser460fs)
|
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs)
|
rs2151158165
|
|
NM_000057.4(BLM):c.1427del (p.Lys476fs)
|
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
|
|
|
NM_000057.4(BLM):c.1440dup (p.Ala481fs)
|
rs1596229894
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)
|
rs1477193473
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter)
|
rs2151158321
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)
|
rs1596230118
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1565del (p.Gly522fs)
|
rs1895965271
|
|
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
|
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)
|
rs367543038
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer)
|
rs2151158659
|
|
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2151158629
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)
|
rs1057516361
|
|
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter)
|
rs2151158869
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.1763del (p.Lys588fs)
|
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.1765del (p.Glu589fs)
|
|
|
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)
|
rs138943954
|
|
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs)
|
rs2151158979
|
|
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
|
|
|
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
|
|
|
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs)
|
rs2151159067
|
|
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
|
|
|
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
|
|
|
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs)
|
rs2151159180
|
|
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
|
|
|
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)
|
rs2151160492
|
|
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
|
|
|
NM_000057.4(BLM):c.1921del (p.His641fs)
|
|
|
NM_000057.4(BLM):c.1928del (p.Arg643fs)
|
rs2151160567
|
|
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
|
|
|
NM_000057.4(BLM):c.1977del (p.His660fs)
|
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
|
|
|
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
|
|
|
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
|
|
|
NM_000057.4(BLM):c.2074+5G>A
|
rs587779880
|
|
NM_000057.4(BLM):c.2078del (p.Gly693fs)
|
rs1896091563
|
|
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
|
|
|
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter)
|
rs753973474
|
|
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)
|
rs1896092339
|
|
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
|
|
|
NM_000057.4(BLM):c.2131_2132del (p.Val711fs)
|
rs2151162445
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs)
|
rs2151162486
|
|
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter)
|
rs2151162501
|
|
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs)
|
rs2151163791
|
|
NM_000057.4(BLM):c.2206dup (p.Tyr736fs)
|
rs886051551
|
|
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
|
|
|
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer)
|
rs1596235791
|
|
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
|
|
|
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)
|
rs1896146578
|
|
NM_000057.4(BLM):c.2225del (p.Thr742fs)
|
|
|
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
|
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
NM_000057.4(BLM):c.227del (p.Pro76fs)
|
rs1299272913
|
|
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs)
|
rs2151163995
|
|
NM_000057.4(BLM):c.2284del (p.Leu762fs)
|
rs2151164000
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)
|
rs2151164019
|
|
NM_000057.4(BLM):c.230dup (p.Pro78fs)
|
|
|
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
|
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs)
|
rs1567045130
|
|
NM_000057.4(BLM):c.2385del (p.Asp795fs)
|
rs2151165798
|
|
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter)
|
rs2151165848
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)
|
rs1896235438
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
NM_000057.4(BLM):c.2411del (p.Gly804fs)
|
rs2151166065
|
|
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
|
|
|
NM_000057.4(BLM):c.2448del (p.Met816fs)
|
rs1896237929
|
|
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
|
|
|
NM_000057.4(BLM):c.2456del (p.Gln819fs)
|
|
|
NM_000057.4(BLM):c.2493del (p.Thr832fs)
|
rs2151166250
|
|
NM_000057.4(BLM):c.2506del (p.Arg836fs)
|
rs1567045531
|
|
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
|
|
|
NM_000057.4(BLM):c.2539del (p.Ile847fs)
|
rs770751979
|
|
NM_000057.4(BLM):c.2559del (p.Phe853fs)
|
rs2151178019
|
|
NM_000057.4(BLM):c.2579del (p.His860fs)
|
rs2151178044
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter)
|
rs1896651394
|
|
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
|
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2620del (p.Val874fs)
|
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
|
|
|
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
|
|
|
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter)
|
rs1456964727
|
|
NM_000057.4(BLM):c.2781del (p.Asp928fs)
|
|
|
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
|
|
|
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
|
|
|
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter)
|
rs2151179928
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2818dup (p.Cys940fs)
|
rs2151179952
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
|
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
|
|
|
NM_000057.4(BLM):c.2900del (p.Pro967fs)
|
rs2151184555
|
|
NM_000057.4(BLM):c.2917del (p.Tyr973fs)
|
rs2151184585
|
|
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
|
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
|
|
|
NM_000057.4(BLM):c.2957del (p.Ile986fs)
|
|
|
NM_000057.4(BLM):c.2980del (p.Thr994fs)
|
rs1164844135
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.2991_2995del (p.Val998fs)
|
rs2151184718
|
|
NM_000057.4(BLM):c.299dup (p.Arg101fs)
|
|
|
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
|
|
|
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs)
|
rs2151184759
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.301_304del (p.Arg101fs)
|
rs1489224386
|
|
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
|
|
|
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
|
|
|
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
|
|
|
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
|
|
|
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)
|
rs1896974524
|
|
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
|
|
|
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
|
|
|
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
|
|
|
NM_000057.4(BLM):c.3125del (p.Leu1042fs)
|
rs1896976755
|
|
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)
|
rs1188753950
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
|
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)
|
rs367543017
|
|
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs)
|
rs2151194158
|
|
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)
|
rs1897212605
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
|
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)
|
rs1596267627
|
|
NM_000057.4(BLM):c.3499del (p.Ala1167fs)
|
rs1555424305
|
|
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)
|
rs1555424311
|
|
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
|
|
|
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
|
|
|
NM_000057.4(BLM):c.3558+1G>A
|
rs148969222
|
|
NM_000057.4(BLM):c.3558+2T>C
|
rs1897222054
|
|
NM_000057.4(BLM):c.3564del (p.Phe1189fs)
|
rs1486692931
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs)
|
rs1567063125
|
|
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
|
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
|
|
|
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
|
|
|
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
|
|
|
NM_000057.4(BLM):c.3616del (p.Ala1206fs)
|
rs2151194859
|
|
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
|
|
|
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter)
|
rs1897234496
|
|
NM_000057.4(BLM):c.3638del (p.Glu1213fs)
|
rs1057516547
|
|
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)
|
rs2151194897
|
|
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)
|
rs1897236255
|
|
NM_000057.4(BLM):c.3681dup (p.Ser1228fs)
|
rs367543020
|
|
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)
|
rs1897238597
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs)
|
rs2151198261
|
|
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter)
|
rs2151198266
|
|
NM_000057.4(BLM):c.375_376del (p.Pro126fs)
|
rs1895612617
|
|
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
|
|
|
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
|
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs)
|
rs2151198369
|
|
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs)
|
rs2151198382
|
|
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)
|
rs2151198389
|
|
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)
|
rs2151198391
|
|
NM_000057.4(BLM):c.3869del (p.Ser1290fs)
|
rs2151198402
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.390del (p.Lys130fs)
|
rs2151147261
|
|
NM_000057.4(BLM):c.3960dup (p.Val1321fs)
|
rs1567066891
|
|
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
|
|
|
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
|
|
|
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)
|
rs2151199939
|
|
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer)
|
rs1895617043
|
|
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
|
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.487del (p.Ser163fs)
|
|
|
NM_000057.4(BLM):c.497C>G (p.Ser166Ter)
|
rs896357448
|
|
NM_000057.4(BLM):c.511dup (p.Thr171fs)
|
|
|
NM_000057.4(BLM):c.522_523del (p.His176fs)
|
|
|
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
|
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
NM_000057.4(BLM):c.566del (p.Gly189fs)
|
rs2151147614
|
|
NM_000057.4(BLM):c.572_573del (p.Arg191fs)
|
rs2151147628
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
|
|
|
NM_000057.4(BLM):c.583A>T (p.Lys195Ter)
|
rs2151147654
|
|
NM_000057.4(BLM):c.589C>T (p.Gln197Ter)
|
rs2151147666
|
|
NM_000057.4(BLM):c.604_607del (p.Asn202fs)
|
rs774777021
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.619del (p.Asp207fs)
|
rs1596218981
|
|
NM_000057.4(BLM):c.623del (p.Leu208fs)
|
rs2151147765
|
|
NM_000057.4(BLM):c.623dup (p.Leu208fs)
|
|
|
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
|
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
NM_000057.4(BLM):c.689G>A (p.Trp230Ter)
|
rs2151147939
|
|
NM_000057.4(BLM):c.700_710del (p.Asp234fs)
|
rs2151147969
|
|
NM_000057.4(BLM):c.700_713del (p.Asp234fs)
|
rs1567035745
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.729del (p.Ile243fs)
|
|
|
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)
|
rs1895534883
|
|
NM_000057.4(BLM):c.757del (p.Gln253fs)
|
rs2151148137
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
NM_000057.4(BLM):c.760G>T (p.Glu254Ter)
|
rs181892828
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
|
|
|
NM_000057.4(BLM):c.789dup (p.Asp264fs)
|
rs2151148207
|
|
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
|
|
|
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
|
|
|
NM_000057.4(BLM):c.826del (p.Glu276fs)
|
rs2151149553
|
|
NM_000057.4(BLM):c.829G>T (p.Glu277Ter)
|
rs1596221020
|
|
NM_000057.4(BLM):c.835G>T (p.Glu279Ter)
|
rs1567036566
|
|
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)
|
rs1567036579
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer)
|
rs2151145092
|
|
NM_000057.4(BLM):c.842del (p.His281fs)
|
rs1895692863
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
|
|
|
NM_000057.4(BLM):c.919G>T (p.Glu307Ter)
|
rs766386787
|
|
NM_000057.4(BLM):c.97dup (p.Ser33fs)
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.982del (p.Ser328fs)
|
|
|
NM_000057.4(BLM):c.984del (p.Asp329fs)
|
rs2151152104
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
NM_000057.4(BLM):c.993del (p.Glu332fs)
|
rs2151152131
|
|
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
|
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu)
|
rs1247886882
|
|
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly)
|
rs1688108235
|
|
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
|
|
|
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)
|
rs886041847
|
|
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs)
|
rs1688101934
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
|
|
|
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
|
|
|
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs)
|
rs1553544158
|
|
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)
|
rs1064795530
|
|
NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs)
|
rs1692186575
|
|
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs)
|
rs2105928888
|
|
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter)
|
rs1330378388
|
|
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)
|
rs1559052032
|
|
NM_001172509.2(SATB2):c.346+1G>A
|
rs2105928782
|
|
NM_001172509.2(SATB2):c.346+2T>A
|
rs1559052017
|
|
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
|
|
|
NM_001172509.2(SATB2):c.554del (p.Glu185fs)
|
rs2105865877
|
|
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter)
|
rs1391758713
|
|
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs)
|
rs2105865785
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
|
|
|
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
|
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001211.6(BUB1B):c.1141del (p.Arg381fs)
|
|
|
NM_001211.6(BUB1B):c.1198A>T (p.Lys400Ter)
|
|
|
NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter)
|
rs2140900203
|
|
NM_001211.6(BUB1B):c.1302del (p.Ser435fs)
|
|
|
NM_001211.6(BUB1B):c.1313_1317del (p.Lys438fs)
|
|
|
NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter)
|
|
|
NM_001211.6(BUB1B):c.1387A>T (p.Arg463Ter)
|
rs1566824608
|
|
NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter)
|
rs2140900615
|
|
NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs)
|
rs2140900652
|
|
NM_001211.6(BUB1B):c.1663C>T (p.Arg555Ter)
|
|
|
NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter)
|
rs2140878554
|
|
NM_001211.6(BUB1B):c.1743del (p.Phe581fs)
|
|
|
NM_001211.6(BUB1B):c.1906del (p.Glu636fs)
|
rs2140904074
|
|
NM_001211.6(BUB1B):c.1954C>T (p.Gln652Ter)
|
rs1401171363
|
|
NM_001211.6(BUB1B):c.2153del (p.Thr718fs)
|
|
|
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs)
|
rs1392909108
|
|
NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer)
|
rs2140906206
|
|
NM_001211.6(BUB1B):c.2298C>G (p.Tyr766Ter)
|
|
|
NM_001211.6(BUB1B):c.2316C>G (p.Tyr772Ter)
|
rs1595533765
|
|
NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter)
|
rs2037693105
|
|
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs)
|
rs756459860
|
|
NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter)
|
rs2037728032
|
|
NM_001211.6(BUB1B):c.2566del (p.His856fs)
|
rs749762155
|
|
NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter)
|
|
|
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter)
|
rs2140912326
|
|
NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)
|
|
|
NM_001211.6(BUB1B):c.310del (p.Arg104fs)
|
|
|
NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter)
|
rs2037151440
|
|
NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter)
|
rs1455613910
|
|
NM_001211.6(BUB1B):c.578del (p.His193fs)
|
rs1179465577
|
|
NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs)
|
rs2037326125
|
|
NM_001211.6(BUB1B):c.709_712del (p.Thr237fs)
|
rs992789522
|
|
NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter)
|
rs746135465
|
|
NM_001211.6(BUB1B):c.871del (p.Thr291fs)
|
|
|
NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter)
|
rs2140890776
|
|
NM_001211.6(BUB1B):c.897del (p.Met300fs)
|
|
|
NM_001211.6(BUB1B):c.897dup (p.Met300fs)
|
|
|
NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter)
|
rs2037346846
|
|
NM_001211.6(BUB1B):c.94_95insGCTCTCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACAACCTT (p.Leu32fs)
|
|
|
NM_001378120.1(MBD5):c.1000del (p.Gln334fs)
|
rs1574459612
|
|
NM_001378120.1(MBD5):c.1025dup (p.Ser343fs)
|
rs1553518511
|
|
NM_001378120.1(MBD5):c.1188del (p.Met396fs)
|
rs2105630210
|
|
NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter)
|
rs878910680
|
|
NM_001378120.1(MBD5):c.143del (p.Glu48fs)
|
rs2105571301
|
|
NM_001378120.1(MBD5):c.1449del (p.Ser484fs)
|
rs2105633124
|
|
NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs)
|
rs2105633619
|
|
NM_001378120.1(MBD5):c.1648del (p.Ser550fs)
|
rs2105635449
|
|
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter)
|
rs1559087186
|
|
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter)
|
rs2105571544
|
|
NM_001378120.1(MBD5):c.188dup (p.Glu65fs)
|
|
|
NM_001378120.1(MBD5):c.196dup (p.Cys66fs)
|
|
|
NM_001378120.1(MBD5):c.2113del (p.Leu705fs)
|
rs2105639771
|
|
NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs)
|
rs1060501153
|
|
NM_001378120.1(MBD5):c.2321del (p.Pro774fs)
|
rs1553518752
|
|
NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter)
|
rs2105642195
|
|
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter)
|
rs1057524832
|
|
NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs)
|
rs1559094754
|
|
NM_001378120.1(MBD5):c.2633del (p.Pro878fs)
|
rs1553519853
|
|
NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer)
|
rs2105093302
|
|
NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter)
|
|
|
NM_001378120.1(MBD5):c.3598del (p.Gln1200fs)
|
|
|
NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)
|
|
|
NM_001378120.1(MBD5):c.3769del (p.Asp1257fs)
|
rs2105123510
|
|
NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter)
|
rs1450731543
|
|
NM_001378120.1(MBD5):c.379del (p.Ser127fs)
|
rs1553517984
|
|
NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter)
|
rs2105124818
|
|
NM_001378120.1(MBD5):c.397+1G>A
|
rs1553517991
|
|
NM_001378120.1(MBD5):c.397+2T>C
|
|
|
NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter)
|
rs1681473896
|
|
NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter)
|
rs2105130509
|
|
NM_001378120.1(MBD5):c.469_476del (p.Thr157fs)
|
rs2105622677
|
|
NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer)
|
|
|
NM_001378120.1(MBD5):c.4729del (p.Ser1577fs)
|
rs2105131625
|
|
NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs)
|
|
|
NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter)
|
|
|
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
|
|
|
NM_001378120.1(MBD5):c.5154del (p.Lys1719fs)
|
rs1060501151
|
|
NM_001378120.1(MBD5):c.535_547del (p.Gly179fs)
|
rs1680665652
|
|
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)
|
rs1293936199
|
|
NM_001378120.1(MBD5):c.598dup (p.Arg200fs)
|
|
|
NM_001378120.1(MBD5):c.698del (p.Gly233fs)
|
rs1680673822
|
|
NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter)
|
rs766179352
|
|
NM_001378120.1(MBD5):c.710_725del (p.Ile237fs)
|
rs2105625178
|
|
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
|
|
|
NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)
|
|
|
NM_001378120.1(MBD5):c.947del (p.Asn316fs)
|
rs1680684706
|
|
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
|
|
|
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
|
|
|
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter)
|
rs1936845711
|
|
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)
|
rs2145838229
|
|
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
|
|
|
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
|
|
|
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)
|
rs2145827917
|
|
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs)
|
rs2145827929
|
|
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
|
|
|
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)
|
rs1936640897
|
|
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
|
|
|
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
|
|
|
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
|
|
|
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter)
|
rs1555895466
|
|
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs)
|
rs2145835194
|
|
NM_001379200.1(TBX1):c.881del (p.Lys294fs)
|
rs2145836457
|
|
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)
|
rs1936634853
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.192dup (p.Val65fs)
|
rs1580988138
|
|
NM_002397.5(MEF2C):c.258+2T>C
|
|
|
NM_002397.5(MEF2C):c.401_402+2del
|
rs1561875779
|
|
NM_002397.5(MEF2C):c.403-1G>A
|
|
|
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)
|
rs1554150552
|
|
NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
|
|
|
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
|
NM_002397.5(MEF2C):c.559dup (p.Thr187fs)
|
rs2152524628
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)
|
rs796052733
|
|
NM_002397.5(MEF2C):c.780dup (p.Pro261fs)
|
rs1561697465
|
|
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
|
|
|
NM_002397.5(MEF2C):c.908dup (p.Leu303fs)
|
rs1581338441
|
|
NM_002397.5(MEF2C):c.988del (p.Leu330fs)
|
rs1759964009
|
|
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
|
|
|
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)
|
rs1565334264
|
|
NM_014679.5(CEP57):c.20_21del (p.Ser7fs)
|
|
|
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)
|
rs387906977
|
|
NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)
|
|
|
NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)
|
rs775752088
|
|
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)
|
rs773014425
|
|
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)
|
rs1166323407
|
|
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)
|
rs2149836269
|
|
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
|
rs1763175962
|
|
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
|
|
|
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)
|
rs1270264665
|
|
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)
|
rs1581315609
|
|
NM_022455.5(NSD1):c.1654del (p.Ser552fs)
|
rs1060501497
|
|
NM_022455.5(NSD1):c.1760del (p.Gly587fs)
|
rs1581316964
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)
|
rs1763225156
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
|
rs1481136060
|
|
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
|
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs)
|
rs2149844461
|
|
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
|
rs1763249718
|
|
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs)
|
rs2149844773
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
|
|
|
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
|
|
|
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs)
|
rs2149845831
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
|
rs2149845949
|
|
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
|
rs1131691754
|
|
NM_022455.5(NSD1):c.2674del (p.Ser892fs)
|
rs2149846018
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
NM_022455.5(NSD1):c.3031del (p.Ser1011fs)
|
rs2149846959
|
|
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs)
|
rs797045810
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
NM_022455.5(NSD1):c.3254del (p.Pro1085fs)
|
rs2149847798
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
|
rs1554190214
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter)
|
rs1562213291
|
|
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs)
|
rs878855075
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
|
rs1562213553
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
NM_022455.5(NSD1):c.3687del (p.Ala1230fs)
|
rs2149849204
|
|
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)
|
rs2149849285
|
|
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
|
rs1763397145
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
NM_022455.5(NSD1):c.3868del (p.Gln1290fs)
|
rs1554195302
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
|
rs1554195840
|
|
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)
|
rs2149887293
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
|
rs1581408152
|
|
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
|
rs1765618844
|
|
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
|
rs1765712615
|
|
NM_022455.5(NSD1):c.4303-3T>G
|
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
NM_022455.5(NSD1):c.4514dup (p.His1505fs)
|
rs2149899468
|
|
NM_022455.5(NSD1):c.4569del (p.Met1525fs)
|
rs2149899647
|
|
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)
|
rs2149904394
|
|
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs)
|
rs2149904428
|
|
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
|
rs1755987983
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
NM_022455.5(NSD1):c.4883del (p.Met1628fs)
|
rs2149912535
|
|
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs)
|
rs1562265336
|
|
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)
|
rs2149917734
|
|
NM_022455.5(NSD1):c.5020del (p.Cys1674fs)
|
rs1581468355
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)
|
rs2149918110
|
|
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
|
|
|
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)
|
rs1554201713
|
|
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)
|
rs2149931088
|
|
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
|
rs1757602433
|
|
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)
|
rs1581491984
|
|
NM_022455.5(NSD1):c.5304-1G>C
|
rs863224905
|
|
NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn)
|
rs2149934255
|
|
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
|
rs794727176
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs)
|
rs1554202205
|
|
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)
|
rs1757804086
|
|
NM_022455.5(NSD1):c.5509+2T>G
|
rs1581497997
|
|
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs)
|
rs2127241978
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
|
rs1758796866
|
|
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer)
|
rs2127257218
|
|
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)
|
rs1581527915
|
|
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala)
|
rs2127257578
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
NM_022455.5(NSD1):c.5892+1G>T
|
rs886039579
|
|
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)
|
rs797045057
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs)
|
rs1554204923
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)
|
rs2127263139
|
|
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)
|
rs2127263172
|
|
NM_022455.5(NSD1):c.6152-5T>G
|
rs755758018
|
|
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs)
|
rs1759550773
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
NM_022455.5(NSD1):c.6294del (p.Lys2098fs)
|
rs2127276076
|
|
NM_022455.5(NSD1):c.6317del (p.Lys2106fs)
|
rs1562305497
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022455.5(NSD1):c.6391dup (p.Val2131fs)
|
rs2127276417
|
|
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
|
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr)
|
rs1554206834
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs)
|
rs2127276655
|
|
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)
|
rs1760056582
|
|
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter)
|
rs1060501494
|
|
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs)
|
rs1760057409
|
|
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
|
rs1760058101
|
|
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
|
rs1760062897
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
|
|
|
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
|
|
|
NM_022455.5(NSD1):c.7603del (p.Gln2535fs)
|
rs2127283690
|
|
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)
|
rs749416834
|
|
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
|
|
|
NM_022455.5(NSD1):c.880_881del (p.Glu294fs)
|
rs1060501492
|
|
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)
|
rs1554185405
|
|
NM_024426.6(WT1):c.1029del (p.Tyr344fs)
|
|
|
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
|
|
|
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs)
|
rs2132942163
|
|
NM_024426.6(WT1):c.1149del (p.Val384fs)
|
rs1554939839
|
|
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter)
|
rs2132939500
|
|
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
|
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
NM_024426.6(WT1):c.1338C>A (p.His446Gln)
|
rs121907907
|
|
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)
|
rs28942089
|
|
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
|
|
|
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
|
|
|
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
|
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)
|
rs1590326226
|
|
NM_024426.6(WT1):c.225del (p.Ser76fs)
|
|
|
NM_024426.6(WT1):c.275dup (p.Gly93fs)
|
|
|
NM_024426.6(WT1):c.276del (p.Gly93fs)
|
rs2133105444
|
|
NM_024426.6(WT1):c.314_318dup (p.Trp107fs)
|
rs2133104877
|
|
NM_024426.6(WT1):c.334del (p.Asp112fs)
|
rs1554946600
|
|
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
|
|
|
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
|
|
|
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
|
|
|
NM_024426.6(WT1):c.455del (p.Gly152fs)
|
rs2133103216
|
|
NM_024426.6(WT1):c.478C>T (p.Gln160Ter)
|
rs1554946500
|
|
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
|
|
|
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
|
|
|
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
|
|
|
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
|
|
|
NM_024426.6(WT1):c.653del (p.Arg218fs)
|
rs1565000973
|
|
NM_024426.6(WT1):c.682dup (p.Asp228fs)
|
rs1554945232
|
|
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)
|
rs2133073037
|
|
NM_024426.6(WT1):c.812del (p.Pro271fs)
|
rs1060501253
|
|
NM_024426.6(WT1):c.834del (p.Thr279fs)
|
|
|
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)
|
rs1554945031
|
|
NM_024426.6(WT1):c.882_887+3del
|
rs2133072022
|
|
NM_024426.6(WT1):c.897del (p.Leu299fs)
|
rs1852720329
|
|
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)
|
|
|