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.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
|
|
|
NM_001042492.3(NF1):c.1218del (p.His407fs)
|
rs1131691106
|
|
NM_001042492.3(NF1):c.1255del (p.Thr419fs)
|
rs1555611105
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)
|
rs1131691085
|
|
NM_001042492.3(NF1):c.1299T>A (p.Tyr433Ter)
|
rs876660099
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.154del (p.Ser52fs)
|
rs1131691109
|
|
NM_001042492.3(NF1):c.1551_1564del (p.Glu517fs)
|
rs1131691068
|
|
NM_001042492.3(NF1):c.1584del (p.Leu529fs)
|
rs876658693
|
|
NM_001042492.3(NF1):c.1714del (p.Glu572fs)
|
rs876660135
|
|
NM_001042492.3(NF1):c.1721+1G>T
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1961del (p.Pro654fs)
|
rs1131691108
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter)
|
rs1131691099
|
|
NM_001042492.3(NF1):c.2178del (p.Ser727fs)
|
rs786202954
|
|
NM_001042492.3(NF1):c.2237del (p.Asn746fs)
|
rs1555613838
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2338dup (p.Thr780fs)
|
rs1567848129
|
|
NM_001042492.3(NF1):c.2409+2T>G
|
rs876660826
|
|
NM_001042492.3(NF1):c.2455del (p.His819fs)
|
rs1567848761
|
|
NM_001042492.3(NF1):c.2483del (p.Leu828fs)
|
rs1131691069
|
|
NM_001042492.3(NF1):c.2589T>G (p.Tyr863Ter)
|
rs587782814
|
|
NM_001042492.3(NF1):c.2589_2592del (p.Ser864fs)
|
rs876658207
|
|
NM_001042492.3(NF1):c.2622_2623insA (p.Gly875fs)
|
rs587781933
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.2753del (p.Lys918fs)
|
rs1131691078
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2952del (p.Gln985fs)
|
rs1555614453
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter)
|
rs1131691104
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter)
|
rs786202023
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3514del (p.Asp1172fs)
|
rs876660580
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs)
|
rs786203614
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3871-2A>G
|
rs1131691077
|
|
NM_001042492.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs)
|
rs786203500
|
|
NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter)
|
rs876658235
|
|
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter)
|
rs1131691087
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4266dup (p.Glu1423Ter)
|
rs876659964
|
|
NM_001042492.3(NF1):c.4627del (p.Ala1544fs)
|
rs1131691088
|
|
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.4765del (p.Thr1589fs)
|
rs1131691098
|
|
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)
|
rs876658492
|
|
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
|
|
|
NM_001042492.3(NF1):c.4904_4905insAAT (p.Tyr1635Ter)
|
rs587781780
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
NM_001042492.3(NF1):c.5023_5024del (p.Ser1675fs)
|
rs876660286
|
|
NM_001042492.3(NF1):c.5269-1G>A
|
rs876660141
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.560del (p.Cys187fs)
|
rs1555607107
|
|
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)
|
rs876660212
|
|
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)
|
rs786203896
|
|
NM_001042492.3(NF1):c.5812+1G>A
|
rs876658854
|
|
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)
|
rs587782088
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)
|
rs863224835
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)
|
rs786203448
|
|
NM_001042492.3(NF1):c.629T>G (p.Leu210Ter)
|
rs876658570
|
|
NM_001042492.3(NF1):c.6306_6307insT (p.Leu2103fs)
|
rs876659471
|
|
NM_001042492.3(NF1):c.6358_6359insTTTAA (p.Ala2120delinsValTer)
|
rs1131691133
|
|
NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs)
|
rs786203806
|
|
NM_001042492.3(NF1):c.6525_6537del (p.Ile2176fs)
|
rs1131691071
|
|
NM_001042492.3(NF1):c.653dup (p.Ala219fs)
|
rs1131691094
|
|
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter)
|
rs1131691091
|
|
NM_001042492.3(NF1):c.6569_6570del (p.Gly2190fs)
|
rs1131691076
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)
|
rs1131691093
|
|
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.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.7028_7031del (p.His2343fs)
|
rs1131691083
|
|
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter)
|
rs769048538
|
|
NM_001042492.3(NF1):c.7102del (p.Glu2368fs)
|
rs1131691082
|
|
NM_001042492.3(NF1):c.7110_7111del (p.His2370fs)
|
rs1555535416
|
|
NM_001042492.3(NF1):c.7195del (p.Arg2399fs)
|
rs1131691102
|
|
NM_001042492.3(NF1):c.7234del (p.Ile2412fs)
|
rs876658245
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7392del (p.Asp2465fs)
|
rs786202180
|
|
NM_001042492.3(NF1):c.7422dup (p.Thr2475fs)
|
rs1131691107
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)
|
rs1131691090
|
|
NM_001042492.3(NF1):c.7869+1G>A
|
rs1329683225
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter)
|
rs1131691074
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter)
|
rs786203443
|
|
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter)
|
rs771764281
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.955dup (p.Ser319fs)
|
rs876660931
|
|