NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)
|
rs779096973
|
0.00005
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)
|
rs763827222
|
0.00002
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
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.2015A>G (p.Gln672Arg)
|
rs747281324
|
0.00001
|
NM_000057.4(BLM):c.2075-1G>A
|
rs1231598990
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)
|
rs148394770
|
0.00001
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
NM_000057.4(BLM):c.2663-1G>C
|
rs1444037196
|
0.00001
|
NM_000057.4(BLM):c.2823+2T>A
|
rs1896712920
|
0.00001
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
NM_000057.4(BLM):c.3013_3019+4del
|
rs765392662
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)
|
rs746218707
|
0.00001
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NC_000015.10:g.(?_90794157)_(90798347_?)del
|
|
|
NC_000015.10:g.(?_90803511)_(90804369_?)del
|
|
|
NC_000015.10:g.(?_90809127)_(90815289_?)del
|
|
|
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91328321_?)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91334084_?)dup
|
|
|
NC_000015.9:g.(?_91326042)_(91358509_?)del
|
|
|
NC_000015.9:g.(?_91341410)_(91341577_?)dup
|
|
|
NC_000015.9:g.(?_91341448)_(91344889_?)del
|
|
|
NC_000015.9:g.(?_91346741)_(91358509_?)del
|
|
|
NC_000015.9:g.(?_91346741)_(91358519_?)del
|
|
|
NC_000015.9:g.(?_91352357)_(91358509_?)del
|
|
|
NM_000057.2(BLM):c.-4-4929_82del
|
|
|
NM_000057.2:c.741_742insALU
|
|
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
NM_000057.4(BLM):c.1087+1G>A
|
rs1179486581
|
|
NM_000057.4(BLM):c.1087+1G>T
|
|
|
NM_000057.4(BLM):c.1087+2T>C
|
|
|
NM_000057.4(BLM):c.1088-1G>A
|
rs1555419696
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1114del (p.Ile373fs)
|
rs1555419704
|
|
NM_000057.4(BLM):c.1151del (p.Asp384fs)
|
rs1555419724
|
|
NM_000057.4(BLM):c.1210del (p.Arg404fs)
|
rs1555419742
|
|
NM_000057.4(BLM):c.1220+1G>A
|
rs1555419748
|
|
NM_000057.4(BLM):c.1220+1G>T
|
|
|
NM_000057.4(BLM):c.1220+2T>C
|
|
|
NM_000057.4(BLM):c.1220+2T>G
|
|
|
NM_000057.4(BLM):c.1221-2A>C
|
rs1555419779
|
|
NM_000057.4(BLM):c.1316del (p.Met439fs)
|
rs1555419829
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)
|
rs1555419873
|
|
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
NM_000057.4(BLM):c.1487del (p.Leu496fs)
|
rs2151158316
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1549dup (p.Ser517fs)
|
rs1555419902
|
|
NM_000057.4(BLM):c.1622del (p.Asn541fs)
|
|
|
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.1722_1725delinsGGC (p.Ala576fs)
|
rs1057517266
|
|
NM_000057.4(BLM):c.1740del (p.Thr581fs)
|
rs1057517432
|
|
NM_000057.4(BLM):c.1752del (p.Gln585fs)
|
rs1555419961
|
|
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)
|
rs1057516956
|
|
NM_000057.4(BLM):c.1795del (p.Arg599fs)
|
rs1057517431
|
|
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)
|
rs1555419980
|
|
NM_000057.4(BLM):c.1882+1G>C
|
rs757841012
|
|
NM_000057.4(BLM):c.1882+2T>C
|
|
|
NM_000057.4(BLM):c.1883-1G>A
|
rs772230310
|
|
NM_000057.4(BLM):c.1883-2A>G
|
rs1555420142
|
|
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
|
|
|
NM_000057.4(BLM):c.1A>C (p.Met1Leu)
|
rs1215497457
|
|
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
|
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
|
|
|
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
|
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
NM_000057.4(BLM):c.2193+1G>T
|
rs865866188
|
|
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.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
|
|
|
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)
|
rs1896146578
|
|
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)
|
rs1555420602
|
|
NM_000057.4(BLM):c.2307+1G>A
|
|
|
NM_000057.4(BLM):c.2307+2T>G
|
rs2151164052
|
|
NM_000057.4(BLM):c.2308-2A>G
|
rs1248548542
|
|
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.2349_2350dup (p.Tyr784fs)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)
|
rs1567045235
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2407-1G>A
|
rs1555420871
|
|
NM_000057.4(BLM):c.2407-2A>G
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)
|
rs1412341951
|
|
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
|
|
|
NM_000057.4(BLM):c.2498C>T (p.Ala833Val)
|
|
|
NM_000057.4(BLM):c.2516del (p.Lys839fs)
|
|
|
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)
|
rs767086502
|
|
NM_000057.4(BLM):c.2548_2555+12del
|
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
NM_000057.4(BLM):c.2555+1G>C
|
|
|
NM_000057.4(BLM):c.2555+1G>T
|
rs1555420917
|
|
NM_000057.4(BLM):c.2556-1G>T
|
rs1896650174
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs)
|
rs1567052178
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)
|
rs1060503989
|
|
NM_000057.4(BLM):c.2603del (p.Pro868fs)
|
|
|
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
|
|
|
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
|
|
|
NM_000057.4(BLM):c.2662+1G>T
|
rs2151178187
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
NM_000057.4(BLM):c.2662+2T>G
|
rs1567052324
|
|
NM_000057.4(BLM):c.2663-2A>G
|
rs1567053170
|
|
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
|
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs)
|
rs1057516452
|
|
NM_000057.4(BLM):c.2756del (p.His919fs)
|
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.2807del (p.Asn936fs)
|
rs1245531016
|
|
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)
|
rs1057516700
|
|
NM_000057.4(BLM):c.2823_2823+3del
|
|
|
NM_000057.4(BLM):c.2824-1G>C
|
rs1555423062
|
|
NM_000057.4(BLM):c.2824-2A>C
|
rs745538883
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
|
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.299dup (p.Arg101fs)
|
|
|
NM_000057.4(BLM):c.2T>C (p.Met1Thr)
|
rs1057516593
|
|
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs)
|
rs797045115
|
|
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)
|
rs1555423119
|
|
NM_000057.4(BLM):c.3022del (p.Glu1008fs)
|
rs1057516719
|
|
NM_000057.4(BLM):c.3163T>G (p.Cys1055Gly)
|
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.320dup (p.Leu107fs)
|
rs781221411
|
|
NM_000057.4(BLM):c.3210+1G>A
|
|
|
NM_000057.4(BLM):c.3211-2A>G
|
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
|
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
|
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
|
NM_000057.4(BLM):c.3358+1G>A
|
|
|
NM_000057.4(BLM):c.3358+1G>T
|
|
|
NM_000057.4(BLM):c.3359-1G>A
|
|
|
NM_000057.4(BLM):c.3359-2A>G
|
|
|
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)
|
rs1057516774
|
|
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
|
|
|
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
|
|
|
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs)
|
rs2151194257
|
|
NM_000057.4(BLM):c.3445del (p.Lys1148_Leu1149insTer)
|
rs1555424298
|
|
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.3554_3559-116del
|
|
|
NM_000057.4(BLM):c.3559-1G>A
|
rs1555424368
|
|
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)
|
rs1555424372
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.3589del (p.Ser1197fs)
|
rs1555424376
|
|
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.3692_3693del (p.Lys1231fs)
|
rs1234064430
|
|
NM_000057.4(BLM):c.3751+1G>A
|
rs1897239335
|
|
NM_000057.4(BLM):c.3751+2T>C
|
rs1897239414
|
|
NM_000057.4(BLM):c.3753del (p.Glu1251fs)
|
rs1275708646
|
|
NM_000057.4(BLM):c.3845del (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3845dup (p.Leu1282fs)
|
rs1897350204
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter)
|
rs1057516728
|
|
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
|
|
|
NM_000057.4(BLM):c.3874+1G>A
|
|
|
NM_000057.4(BLM):c.3874+2T>C
|
rs1555424890
|
|
NM_000057.4(BLM):c.3875-1G>A
|
rs2151199690
|
|
NM_000057.4(BLM):c.3875-2A>T
|
rs150421256
|
|
NM_000057.4(BLM):c.3890del (p.Pro1297fs)
|
rs1555425062
|
|
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
|
|
|
NM_000057.4(BLM):c.3901del (p.Leu1301fs)
|
rs1555425063
|
|
NM_000057.4(BLM):c.3917del (p.Gly1306fs)
|
rs764086459
|
|
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)
|
rs1555425074
|
|
NM_000057.4(BLM):c.3956del (p.Ile1319fs)
|
rs1555425080
|
|
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
|
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
|
|
|
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
|
|
|
NM_000057.4(BLM):c.443dup (p.Leu148fs)
|
rs1057516297
|
|
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)
|
rs1555418352
|
|
NM_000057.4(BLM):c.516del (p.Gln174fs)
|
|
|
NM_000057.4(BLM):c.543del (p.Ser181fs)
|
rs1555418380
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
|
|
|
NM_000057.4(BLM):c.662_665del (p.Thr221fs)
|
rs1057517229
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000057.4(BLM):c.746del (p.Asn249fs)
|
|
|
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.799+1G>A
|
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
|
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000057.4(BLM):c.855del (p.Val286fs)
|
rs2151149598
|
|
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
|
|
|
NM_000057.4(BLM):c.942del (p.Ser315fs)
|
rs1555418701
|
|
NM_000057.4(BLM):c.959+1_959+9del
|
rs765061205
|
|
NM_000057.4(BLM):c.959_959+16del
|
|
|
NM_000057.4(BLM):c.960-1G>A
|
rs1596223715
|
|
NM_000057.4(BLM):c.960-1G>T
|
rs1596223715
|
|
NM_000057.4(BLM):c.960-2A>C
|
rs1286600850
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.98+2dup
|
rs1555418016
|
|
NM_000057.4(BLM):c.98_98+1del
|
|
|
NM_000057.4(BLM):c.99-1G>A
|
|
|
NM_000057.4(BLM):c.99-1G>C
|
rs897262346
|
|
NM_000057.4(BLM):c.99-1G>T
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|