NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1186-1G>A
|
rs876660782
|
|
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs)
|
rs2066928095
|
|
NM_001042492.3(NF1):c.1854del (p.Asp618fs)
|
rs1597710342
|
|
NM_001042492.3(NF1):c.1888dup (p.Val630fs)
|
rs1567846670
|
|
NM_001042492.3(NF1):c.1950del (p.Leu650fs)
|
rs1597710658
|
|
NM_001042492.3(NF1):c.1989del (p.Asn664fs)
|
rs1202226733
|
|
NM_001042492.3(NF1):c.2244dup (p.Ser749fs)
|
rs1597712758
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter)
|
rs1597629765
|
|
NM_001042492.3(NF1):c.2449dup (p.Met817fs)
|
rs1567848755
|
|
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)
|
rs1555614229
|
|
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.2851-2A>T
|
rs2151430455
|
|
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)
|
rs1597716910
|
|
NM_001042492.3(NF1):c.3152del (p.Gly1051fs)
|
rs2151432442
|
|
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.3323del (p.Thr1108fs)
|
rs2151434456
|
|
NM_001042492.3(NF1):c.333del (p.Lys111fs)
|
rs1597635722
|
|
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs)
|
rs1597719504
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs)
|
rs2143672139
|
|
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter)
|
rs1597735272
|
|
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4381dup (p.Met1461fs)
|
rs1597745689
|
|
NM_001042492.3(NF1):c.4431-1G>T
|
rs1597746891
|
|
NM_001042492.3(NF1):c.4463del (p.Thr1488fs)
|
rs1597746962
|
|
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter)
|
rs2067765689
|
|
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter)
|
rs1597829913
|
|
NM_001042492.3(NF1):c.5269-2A>T
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs)
|
rs1597832021
|
|
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)
|
rs1597832235
|
|
NM_001042492.3(NF1):c.5609+1G>T
|
rs1131691117
|
|
NM_001042492.3(NF1):c.5773del (p.Glu1925fs)
|
rs2151544918
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs)
|
rs1597843096
|
|
NM_001042492.3(NF1):c.6540del (p.Ser2181fs)
|
rs1597843853
|
|
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter)
|
rs876659768
|
|
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.7062+1G>T
|
rs863224492
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7458-2_7459del
|
rs1597862010
|
|
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs)
|
rs1597865858
|
|
NM_001042492.3(NF1):c.7923del (p.Glu2641fs)
|
rs1597866921
|
|
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)
|
rs753054046
|
|
NM_001042492.3(NF1):c.888+1G>T
|
rs1135402799
|
|
NM_001042492.3(NF1):c.889-2A>T
|
rs878853922
|
|