|
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_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_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.3020-258A>G
|
rs1301751251
|
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_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
|
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.(?_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
|
|
|
|
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.1346del (p.Ser449fs)
|
rs2151158066
|
|
|
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.1535dup (p.Asn515fs)
|
rs2151158428
|
|
|
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.175_176del (p.Val59fs)
|
rs2151146787
|
|
|
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.2005A>T (p.Arg669Ter)
|
rs1596232266
|
|
|
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+1G>A
|
rs865866188
|
|
|
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.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
|
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.2308-953_2555+4719del
|
|
|
|
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.2406+2T>G
|
rs367543016
|
|
|
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.2650_2651del (p.Lys884fs)
|
rs1596250472
|
|
|
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.2809C>T (p.Gln937Ter)
|
rs1596252279
|
|
|
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.3107G>T (p.Cys1036Phe)
|
rs137853153
|
|
|
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
|
|
|
|
NM_000057.4(BLM):c.311C>A (p.Ser104Ter)
|
rs367543030
|
|
|
NM_000057.4(BLM):c.3125del (p.Leu1042fs)
|
rs1896976755
|
|
|
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)
|
rs1188753950
|
|
|
NM_000057.4(BLM):c.3163dup (p.Cys1055fs)
|
rs2151187381
|
|
|
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.3587del (p.Ser1196fs)
|
rs367543018
|
|
|
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.397dup (p.Asp133fs)
|
rs2151147279
|
|
|
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.582del (p.Phe194fs)
|
rs367543026
|
|
|
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.800-2A>G
|
rs1895690125
|
|
|
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.959+2T>C
|
|
|
|
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.99-8_112del
|
rs2151146678
|
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
|
NM_000057.4(BLM):c.993del (p.Glu332fs)
|
rs2151152131
|
|
|
NM_000057.4(BLM):c.[1544dup;2468del]
|
|
|
|
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
|
|
|
|
NM_000057.4(BLM):c.[289C>T;649C>T]
|
|
|