NM_001042492.3(NF1):c.702G>A (p.Leu234=)
|
rs1801052
|
0.56607
|
NM_001042492.3(NF1):c.5609+19T>A
|
rs2285894
|
0.49901
|
NM_001042492.3(NF1):c.7458-29G>A
|
rs964288
|
0.49344
|
NM_001042492.3(NF1):c.2034G>A (p.Pro678=)
|
rs2285892
|
0.42930
|
NM_001042492.3(NF1):c.2851-16T>C
|
rs17880825
|
0.01543
|
NM_001042492.3(NF1):c.8113+20G>A
|
rs55747230
|
0.01406
|
NM_001042492.3(NF1):c.168C>T (p.Ser56=)
|
rs17881168
|
0.01374
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)
|
rs1316926587
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7950del (p.Val2653fs)
|
rs2070298779
|
|
NM_001042492.3(NF1):c.818del (p.Leu273fs)
|
rs2143786053
|
|
NM_001042492.3(NF1):c.8408C>T (p.Pro2803Leu)
|
rs2151601322
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|