NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
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.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
|
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.(?_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_000057.4(BLM):c.1087+1G>A
|
rs1179486581
|
|
NM_000057.4(BLM):c.1087+2T>C
|
|
|
NM_000057.4(BLM):c.1088-1G>A
|
rs1555419696
|
|
NM_000057.4(BLM):c.1220+2T>C
|
|
|
NM_000057.4(BLM):c.1220+2T>G
|
|
|
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.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
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.2548_2555+12del
|
|
|
NM_000057.4(BLM):c.2555+1G>A
|
|
|
NM_000057.4(BLM):c.2556-1G>T
|
rs1896650174
|
|
NM_000057.4(BLM):c.2556-2A>G
|
rs1596250255
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
NM_000057.4(BLM):c.2662+2T>G
|
rs1567052324
|
|
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.3211-2A>G
|
|
|
NM_000057.4(BLM):c.3358+1G>A
|
|
|
NM_000057.4(BLM):c.3359-2A>G
|
|
|
NM_000057.4(BLM):c.3554_3559-116del
|
|
|
NM_000057.4(BLM):c.3559-1G>A
|
rs1555424368
|
|
NM_000057.4(BLM):c.3751+1G>A
|
rs1897239335
|
|
NM_000057.4(BLM):c.3751+2T>C
|
rs1897239414
|
|
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.3956del (p.Ile1319fs)
|
rs1555425080
|
|
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)
|
rs1057516261
|
|
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
|
|
|
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.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_98+1del
|
|
|
NM_000057.4(BLM):c.99-1G>T
|
|
|
NM_000057.4(BLM):c.99-8_112del
|
rs2151146678
|
|