NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)
|
rs1555610971
|
|
NM_001042492.3(NF1):c.1077del (p.Pro360fs)
|
rs1555610972
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
NM_001042492.3(NF1):c.1245del (p.Arg416fs)
|
rs1555611098
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs)
|
rs1555612273
|
|
NM_001042492.3(NF1):c.1490del (p.Val497fs)
|
rs1555612286
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly)
|
rs1555612857
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
NM_001042492.3(NF1):c.2035dup (p.Ile679fs)
|
rs1555613773
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter)
|
rs1555613821
|
|
NM_001042492.3(NF1):c.2252-1G>T
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter)
|
rs1270674587
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs)
|
rs1555613926
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2552del (p.Cys851fs)
|
rs1555614260
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2739dup (p.Arg914fs)
|
rs1555614319
|
|
NM_001042492.3(NF1):c.2842dup (p.Gln948fs)
|
rs1555614354
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs)
|
rs1555614426
|
|
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs)
|
rs1555614429
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer)
|
rs1555614624
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs)
|
rs1555614862
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs)
|
rs1555614918
|
|
NM_001042492.3(NF1):c.3357del (p.Val1120fs)
|
rs1555614934
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
NM_001042492.3(NF1):c.3708+3A>T
|
rs1555615114
|
|
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs)
|
rs1555615467
|
|
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs)
|
rs1555615469
|
|
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter)
|
rs1555615495
|
|
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs)
|
rs1555617364
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4332+2T>C
|
rs786204207
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
NM_001042492.3(NF1):c.4658del (p.Pro1553fs)
|
rs1555619029
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter)
|
rs1555619416
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs)
|
rs1555533359
|
|
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs)
|
rs1555533363
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs)
|
rs1555533641
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser)
|
rs1555533843
|
|
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs)
|
rs1555533856
|
|
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs)
|
rs1555533882
|
|
NM_001042492.3(NF1):c.5812+1G>T
|
rs876658854
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.6007-1G>A
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs)
|
rs1555534680
|
|
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs)
|
rs1555534712
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
NM_001042492.3(NF1):c.6645del (p.Cys2216fs)
|
rs1555534913
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6671del (p.Lys2224fs)
|
rs1555534919
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer)
|
rs1555534952
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs)
|
rs1555535041
|
|
NM_001042492.3(NF1):c.6921+2T>A
|
rs1555535053
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs)
|
rs1555535163
|
|
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs)
|
rs1555535171
|
|
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla)
|
rs1555535448
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
NM_001042492.3(NF1):c.7753del (p.Ser2585fs)
|
rs1555536685
|
|
NM_001042492.3(NF1):c.8159del (p.Lys2720fs)
|
rs1555537029
|
|
NM_001042492.3(NF1):c.8160+1G>A
|
rs1555537032
|
|
NM_001042492.3(NF1):c.817del (p.Leu273fs)
|
rs1555608972
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
NM_001042492.3(NF1):c.988del (p.Ala330fs)
|
rs1555610896
|
|