NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001042492.3(NF1):c.1260+1G>A
|
rs267606603
|
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.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NC_000017.11:(?_31094927)_(31377677_?)del
|
|
|
NF1, 1-BP DEL, 4071C
|
|
|
NF1, ALU INS
|
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1523T>C (p.Leu508Pro)
|
rs137854558
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg)
|
rs137854566
|
|
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3784del (p.Ser1262fs)
|
rs1567852567
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)
|
rs137854559
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4724+1G>C
|
rs1555619056
|
|
NM_001042492.3(NF1):c.5186_5190del (p.Ala1729fs)
|
rs2151538841
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.5511dup (p.Ser1838fs)
|
rs267606596
|
|
NM_001042492.3(NF1):c.5528_5529insT (p.Lys1844fs)
|
rs267606597
|
|
NM_001042492.3(NF1):c.5773G>T (p.Glu1925Ter)
|
rs137854565
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5908A>T (p.Arg1970Ter)
|
rs267606595
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.6490C>A (p.Leu2164Met)
|
rs137854551
|
|
NM_001042492.3(NF1):c.6574T>A (p.Tyr2192Asn)
|
rs267606598
|
|
NM_001042492.3(NF1):c.945_946delinsAA (p.Leu316Met)
|
rs267606609
|
|