NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3974+260T>G
|
rs1567853044
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys)
|
rs876659079
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|