NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)
|
rs1555610971
|
|
NM_001042492.3(NF1):c.108_111dup (p.His38Ter)
|
rs2065655815
|
|
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs)
|
rs2066520145
|
|
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
NM_001042492.3(NF1):c.1254del (p.Thr419fs)
|
rs761430357
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs)
|
rs2066991740
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-4_2326-1del
|
rs2067037065
|
|
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg)
|
rs199474730
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup)
|
rs2065717991
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs)
|
rs2067082667
|
|
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs)
|
rs2067083472
|
|
NM_001042492.3(NF1):c.2940del (p.Glu981fs)
|
rs2067084312
|
|
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs)
|
rs2067090473
|
|
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs)
|
rs2067090561
|
|
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer)
|
rs2067092112
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3196del (p.Arg1066fs)
|
rs2067102964
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs)
|
rs2067135200
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
NM_001042492.3(NF1):c.3818del (p.Thr1273fs)
|
rs2067188459
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter)
|
rs761512189
|
|
NM_001042492.3(NF1):c.4018del (p.Leu1340fs)
|
rs2067448975
|
|
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs)
|
rs2067451446
|
|
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs)
|
rs2067620305
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs)
|
rs2067690116
|
|
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer)
|
rs2069326575
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs)
|
rs2069337884
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
NM_001042492.3(NF1):c.5374del (p.Cys1792fs)
|
rs2069378463
|
|
NM_001042492.3(NF1):c.5387del (p.Glu1796fs)
|
rs2069379168
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs)
|
rs2069386536
|
|
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs)
|
rs2069452094
|
|
NM_001042492.3(NF1):c.573del (p.Lys191fs)
|
rs2065904589
|
|
NM_001042492.3(NF1):c.5812+2_5812+3insTA
|
rs2069454921
|
|
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs)
|
rs2069602426
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
NM_001042492.3(NF1):c.6147+1G>C
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs)
|
rs2069742524
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs)
|
rs2069792273
|
|
NM_001042492.3(NF1):c.7062+2del
|
rs2069795581
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)
|
rs2066155612
|
|
NM_001042492.3(NF1):c.7456_7457+7del
|
rs2070109067
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
NM_001042492.3(NF1):c.7615+1del
|
rs1355691590
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.8142del (p.Phe2714fs)
|
rs2070340004
|
|