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.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
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.1284G>A (p.Trp428Ter)
|
rs1057516964
|
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.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
|
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1346del (p.Ser449fs)
|
rs2151158066
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
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.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.311C>A (p.Ser104Ter)
|
rs367543030
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
NM_000057.4(BLM):c.582del (p.Phe194fs)
|
rs367543026
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|