NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter)
|
rs1348129244
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_000267.3(NF1):c.206_207delGA
|
rs1060500321
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
|
|
|
NM_001042492.3(NF1):c.1392+2_1392+8del
|
|
|
NM_001042492.3(NF1):c.1404del (p.Phe468fs)
|
|
|
NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter)
|
|
|
NM_001042492.3(NF1):c.1641+2_1641+3del
|
|
|
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)
|
rs1135402819
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs)
|
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter)
|
rs2067018146
|
|
NM_001042492.3(NF1):c.2152del (p.Asp718fs)
|
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer)
|
rs2067037428
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2409+1G>A
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.338del (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3567del (p.Gly1190fs)
|
rs1060500271
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
NM_001042492.3(NF1):c.4076del (p.Pro1359fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
|
|
|
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs)
|
rs2067665969
|
|
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs)
|
rs1555533284
|
|
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer)
|
rs1555533290
|
|
NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs)
|
|
|
NM_001042492.3(NF1):c.512del (p.Asn171fs)
|
|
|
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter)
|
rs2069375606
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5813-177A>C
|
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs)
|
rs2151561476
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7232_7233del (p.Arg2411fs)
|
rs2151572602
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter)
|
|
|
NM_001042492.3(NF1):c.7458-1G>A
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|