Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31337447_31338975delCA1139665448NF1c.6489_6903+170del
c.1071_1485+170del
n.1385_2913del
c.663_1077+170del
n.3152_3566+170del
c.6537_6951+170del
c.6507_6921+170del
c.6444_6858+170del
c.5442_5856+170del
c.6643_7057+170del
c.6498_6912+170del
c.6474_6888+170del
c.6534_6948+170del
 ClinVar
17g.31338733_31338754delCA2695225181NF1c.6831_6852del (p.Asp2277GlufsTer2)
c.1413_1434del (p.Asp471GlufsTer2)
n.2671_2692del
c.1005_1026del (p.Asp335GlufsTer2)
n.3494_3515del
c.6879_6900del (p.Asp2293GlufsTer2)
c.6849_6870del (p.Asp2283GlufsTer2)
c.6786_6807del (p.Asp2262GlufsTer2)
c.5784_5805del (p.Asp1928GlufsTer2)
c.232_253del
c.6985_7006del (n.6985_7006del)
c.64+853_64+874del
n.263_284del
c.6840_6861del (p.Asp2280GlufsTer2)
c.6816_6837del (p.Asp2272GlufsTer2)
c.6876_6897del (p.Asp2292GlufsTer2)
17g.31338736_31338739delCA336456NF1c.6834_6837del (p.Tyr2279ThrfsTer5)
c.1416_1419del (p.Tyr473ThrfsTer5)
n.2674_2677del
c.1008_1011del (p.Tyr337ThrfsTer5)
n.3497_3500del
c.6882_6885del (p.Tyr2295ThrfsTer5)
c.6852_6855del (p.Tyr2285ThrfsTer5)
c.6789_6792del (p.Tyr2264ThrfsTer5)
c.5787_5790del (p.Tyr1930ThrfsTer5)
c.235_238del
c.6988_6991del (n.6988_6991del)
c.64+856_64+859del
n.266_269del
c.6843_6846del (p.Tyr2282ThrfsTer5)
c.6819_6822del (p.Tyr2274ThrfsTer5)
c.6879_6882del (p.Tyr2294ThrfsTer5)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
17g.31338737_31338753delCA645572249NF1c.6835_6851del (p.Tyr2279AspfsTer16)
c.1417_1433del (p.Tyr473AspfsTer16)
n.2675_2691del
c.1009_1025del (p.Tyr337AspfsTer16)
n.3498_3514del
c.6883_6899del (p.Tyr2295AspfsTer16)
c.6853_6869del (p.Tyr2285AspfsTer16)
c.6790_6806del (p.Tyr2264AspfsTer16)
c.5788_5804del (p.Tyr1930AspfsTer16)
c.236_252del
c.6989_7005del (n.6989_7005del)
c.64+857_64+873del
n.267_283del
c.6844_6860del (p.Tyr2282AspfsTer16)
c.6820_6836del (p.Tyr2274AspfsTer16)
c.6880_6896del (p.Tyr2294AspfsTer16)
 COSMIC
17g.31338738_31338739delinsACCA2255603133NF1c.6836_6837delinsAC (p.Tyr2279=)
c.1418_1419delinsAC (p.Tyr473=)
n.2676_2677delinsAC
c.1010_1011delinsAC (p.Tyr337=)
n.3499_3500delinsAC
c.6884_6885delinsAC (p.Tyr2295=)
c.6854_6855delinsAC (p.Tyr2285=)
c.6791_6792delinsAC (p.Tyr2264=)
c.5789_5790delinsAC (p.Tyr1930=)
c.237_238delinsAC
c.6990_6991delinsAC (n.6990_6991delinsAC)
c.64+858_64+859delinsAC
n.268_269delinsAC
c.6845_6846delinsAC (p.Tyr2282=)
c.6821_6822delinsAC (p.Tyr2274=)
c.6881_6882delinsAC (p.Tyr2294=)
17g.31338741_31338743delCA2580614074NF1c.6839_6841del (p.Asn2280del)
c.1421_1423del (p.Asn474del)
n.2679_2681del
c.1013_1015del (p.Asn338del)
n.3502_3504del
c.6887_6889del (p.Asn2296del)
c.6857_6859del (p.Asn2286del)
c.6794_6796del (p.Asn2265del)
c.5792_5794del (p.Asn1931del)
c.240_242del
c.6993_6995del (n.6993_6995del)
c.64+861_64+863del
n.271_273del
c.6848_6850del (p.Asn2283del)
c.6824_6826del (p.Asn2275del)
c.6884_6886del (p.Asn2295del)
 ClinVar
17g.31338739delCA658658591NF1c.6837del (p.Tyr2279Ter)
c.1419del (p.Tyr473Ter)
n.2677del
c.1011del (p.Tyr337Ter)
n.3500del
c.6885del (p.Tyr2295Ter)
c.6855del (p.Tyr2285Ter)
c.6792del (p.Tyr2264Ter)
c.5790del (p.Tyr1930Ter)
c.238del
c.6991del (n.6991del)
c.64+859del
n.269del
c.6846del (p.Tyr2282Ter)
c.6822del (p.Tyr2274Ter)
c.6882del (p.Tyr2294Ter)
 ClinVar dbSNP
17g.31338739C>ACA190957NF1c.6837C>A (p.Tyr2279Ter)
c.1419C>A (p.Tyr473Ter)
n.2677C>A
c.1011C>A (p.Tyr337Ter)
n.3500C>A
c.6885C>A (p.Tyr2295Ter)
c.6855C>A (p.Tyr2285Ter)
c.6792C>A (p.Tyr2264Ter)
c.5790C>A (p.Tyr1930Ter)
c.238C>A
c.6991C>A (n.6991C>A)
c.64+859C>A
n.269C>A
c.6846C>A (p.Tyr2282Ter)
c.6822C>A (p.Tyr2274Ter)
c.6882C>A (p.Tyr2294Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31338739C=CA2255603134NF1c.6837C= (p.Tyr2279=)
c.1419C= (p.Tyr473=)
n.2677C=
c.1011C= (p.Tyr337=)
n.3500C=
c.6885C= (p.Tyr2295=)
c.6855C= (p.Tyr2285=)
c.6792C= (p.Tyr2264=)
c.5790C= (p.Tyr1930=)
c.238C=
c.6991C= (n.6991C=)
c.64+859C=
n.269C=
c.6846C= (p.Tyr2282=)
c.6822C= (p.Tyr2274=)
c.6882C= (p.Tyr2294=)
17g.31338739C>GCA8487442NF1c.6837C>G (p.Tyr2279Ter)
c.1419C>G (p.Tyr473Ter)
n.2677C>G
c.1011C>G (p.Tyr337Ter)
n.3500C>G
c.6885C>G (p.Tyr2295Ter)
c.6855C>G (p.Tyr2285Ter)
c.6792C>G (p.Tyr2264Ter)
c.5790C>G (p.Tyr1930Ter)
c.238C>G
c.6991C>G (n.6991C>G)
c.64+859C>G
n.269C>G
c.6846C>G (p.Tyr2282Ter)
c.6822C>G (p.Tyr2274Ter)
c.6882C>G (p.Tyr2294Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.31338739C>TCA499234341NF1c.6837C>T (p.Tyr2279=)
c.1419C>T (p.Tyr473=)
n.2677C>T
c.1011C>T (p.Tyr337=)
n.3500C>T
c.6885C>T (p.Tyr2295=)
c.6855C>T (p.Tyr2285=)
c.6792C>T (p.Tyr2264=)
c.5790C>T (p.Tyr1930=)
c.238C>T
c.6991C>T (n.6991C>T)
c.64+859C>T
n.269C>T
c.6846C>T (p.Tyr2282=)
c.6822C>T (p.Tyr2274=)
c.6882C>T (p.Tyr2294=)
 ClinVar dbSNP gnomAD v4
17g.31338739dupCA658824589NF1c.6837dup (p.Asn2280GlnfsTer21)
c.1419dup (p.Asn474GlnfsTer21)
n.2677dup
c.1011dup (p.Asn338GlnfsTer21)
n.3500dup
c.6885dup (p.Asn2296GlnfsTer21)
c.6855dup (p.Asn2286GlnfsTer21)
c.6792dup (p.Asn2265GlnfsTer21)
c.5790dup (p.Asn1931GlnfsTer21)
c.238dup
c.6991dup (n.6991dup)
c.64+859dup
n.269dup
c.6846dup (p.Asn2283GlnfsTer21)
c.6822dup (p.Asn2275GlnfsTer21)
c.6882dup (p.Asn2295GlnfsTer21)
 ClinVar dbSNP
17g.31338740A>CCA399014318NF1c.6838A>C (p.Asn2280His)
c.1420A>C (p.Asn474His)
n.2678A>C
c.1012A>C (p.Asn338His)
n.3501A>C
c.6886A>C (p.Asn2296His)
c.6856A>C (p.Asn2286His)
c.6793A>C (p.Asn2265His)
c.5791A>C (p.Asn1931His)
c.239A>C
c.6992A>C (n.6992A>C)
c.64+860A>C
n.270A>C
c.6847A>C (p.Asn2283His)
c.6823A>C (p.Asn2275His)
c.6883A>C (p.Asn2295His)
 ClinVar
17g.31338740A>GCA399014319NF1c.6838A>G (p.Asn2280Asp)
c.1420A>G (p.Asn474Asp)
n.2678A>G
c.1012A>G (p.Asn338Asp)
n.3501A>G
c.6886A>G (p.Asn2296Asp)
c.6856A>G (p.Asn2286Asp)
c.6793A>G (p.Asn2265Asp)
c.5791A>G (p.Asn1931Asp)
c.239A>G
c.6992A>G (n.6992A>G)
c.64+860A>G
n.270A>G
c.6847A>G (p.Asn2283Asp)
c.6823A>G (p.Asn2275Asp)
c.6883A>G (p.Asn2295Asp)
17g.31338740A>TCA399014317NF1c.6838A>T (p.Asn2280Tyr)
c.1420A>T (p.Asn474Tyr)
n.2678A>T
c.1012A>T (p.Asn338Tyr)
n.3501A>T
c.6886A>T (p.Asn2296Tyr)
c.6856A>T (p.Asn2286Tyr)
c.6793A>T (p.Asn2265Tyr)
c.5791A>T (p.Asn1931Tyr)
c.239A>T
c.6992A>T (n.6992A>T)
c.64+860A>T
n.270A>T
c.6847A>T (p.Asn2283Tyr)
c.6823A>T (p.Asn2275Tyr)
c.6883A>T (p.Asn2295Tyr)
 gnomAD v4
17g.31338741dupCA2695225183NF1c.6839dup (p.Asn2280LysfsTer21)
c.1421dup (p.Asn474LysfsTer21)
n.2679dup
c.1013dup (p.Asn338LysfsTer21)
n.3502dup
c.6887dup (p.Asn2296LysfsTer21)
c.6857dup (p.Asn2286LysfsTer21)
c.6794dup (p.Asn2265LysfsTer21)
c.5792dup (p.Asn1931LysfsTer21)
c.240dup
c.6993dup (n.6993dup)
c.64+861dup
n.271dup
c.6848dup (p.Asn2283LysfsTer21)
c.6824dup (p.Asn2275LysfsTer21)
c.6884dup (p.Asn2295LysfsTer21)
17g.31338740_31338742delinsAACCA2255603135NF1c.6838_6840delinsAAC (p.Asn2280=)
c.1420_1422delinsAAC (p.Asn474=)
n.2678_2680delinsAAC
c.1012_1014delinsAAC (p.Asn338=)
n.3501_3503delinsAAC
c.6886_6888delinsAAC (p.Asn2296=)
c.6856_6858delinsAAC (p.Asn2286=)
c.6793_6795delinsAAC (p.Asn2265=)
c.5791_5793delinsAAC (p.Asn1931=)
c.239_241delinsAAC
c.6992_6994delinsAAC (n.6992_6994delinsAAC)
c.64+860_64+862delinsAAC
n.270_272delinsAAC
c.6847_6849delinsAAC (p.Asn2283=)
c.6823_6825delinsAAC (p.Asn2275=)
c.6883_6885delinsAAC (p.Asn2295=)
17g.31338741A>CCA399014320NF1c.6839A>C (p.Asn2280Thr)
c.1421A>C (p.Asn474Thr)
n.2679A>C
c.1013A>C (p.Asn338Thr)
n.3502A>C
c.6887A>C (p.Asn2296Thr)
c.6857A>C (p.Asn2286Thr)
c.6794A>C (p.Asn2265Thr)
c.5792A>C (p.Asn1931Thr)
c.240A>C
c.6993A>C (n.6993A>C)
c.64+861A>C
n.271A>C
c.6848A>C (p.Asn2283Thr)
c.6824A>C (p.Asn2275Thr)
c.6884A>C (p.Asn2295Thr)
 dbSNP
17g.31338741A>GCA399014321NF1c.6839A>G (p.Asn2280Ser)
c.1421A>G (p.Asn474Ser)
n.2679A>G
c.1013A>G (p.Asn338Ser)
n.3502A>G
c.6887A>G (p.Asn2296Ser)
c.6857A>G (p.Asn2286Ser)
c.6794A>G (p.Asn2265Ser)
c.5792A>G (p.Asn1931Ser)
c.240A>G
c.6993A>G (n.6993A>G)
c.64+861A>G
n.271A>G
c.6848A>G (p.Asn2283Ser)
c.6824A>G (p.Asn2275Ser)
c.6884A>G (p.Asn2295Ser)
 gnomAD v4
17g.31338741A>TCA399014322NF1c.6839A>T (p.Asn2280Ile)
c.1421A>T (p.Asn474Ile)
n.2679A>T
c.1013A>T (p.Asn338Ile)
n.3502A>T
c.6887A>T (p.Asn2296Ile)
c.6857A>T (p.Asn2286Ile)
c.6794A>T (p.Asn2265Ile)
c.5792A>T (p.Asn1931Ile)
c.240A>T
c.6993A>T (n.6993A>T)
c.64+861A>T
n.271A>T
c.6848A>T (p.Asn2283Ile)
c.6824A>T (p.Asn2275Ile)
c.6884A>T (p.Asn2295Ile)
 dbSNP
17g.31338742_31338743delCA658658592NF1c.6840_6841del (p.Asn2280LysfsTer20)
c.1422_1423del (p.Asn474LysfsTer20)
n.2680_2681del
c.1014_1015del (p.Asn338LysfsTer20)
n.3503_3504del
c.6888_6889del (p.Asn2296LysfsTer20)
c.6858_6859del (p.Asn2286LysfsTer20)
c.6795_6796del (p.Asn2265LysfsTer20)
c.5793_5794del (p.Asn1931LysfsTer20)
c.241_242del
c.6994_6995del (n.6994_6995del)
c.64+862_64+863del
n.272_273del
c.6849_6850del (p.Asn2283LysfsTer20)
c.6825_6826del (p.Asn2275LysfsTer20)
c.6885_6886del (p.Asn2295LysfsTer20)
 ClinVar dbSNP
17g.31338742C>ACA399014323NF1c.6840C>A (p.Asn2280Lys)
c.1422C>A (p.Asn474Lys)
n.2680C>A
c.1014C>A (p.Asn338Lys)
n.3503C>A
c.6888C>A (p.Asn2296Lys)
c.6858C>A (p.Asn2286Lys)
c.6795C>A (p.Asn2265Lys)
c.5793C>A (p.Asn1931Lys)
c.241C>A
c.6994C>A (n.6994C>A)
c.64+862C>A
n.272C>A
c.6849C>A (p.Asn2283Lys)
c.6825C>A (p.Asn2275Lys)
c.6885C>A (p.Asn2295Lys)
17g.31338742C=CA2255603136NF1c.6840C= (p.Asn2280=)
c.1422C= (p.Asn474=)
n.2680C=
c.1014C= (p.Asn338=)
n.3503C=
c.6888C= (p.Asn2296=)
c.6858C= (p.Asn2286=)
c.6795C= (p.Asn2265=)
c.5793C= (p.Asn1931=)
c.241C=
c.6994C= (n.6994C=)
c.64+862C=
n.272C=
c.6849C= (p.Asn2283=)
c.6825C= (p.Asn2275=)
c.6885C= (p.Asn2295=)
17g.31338742C>GCA399014324NF1c.6840C>G (p.Asn2280Lys)
c.1422C>G (p.Asn474Lys)
n.2680C>G
c.1014C>G (p.Asn338Lys)
n.3503C>G
c.6888C>G (p.Asn2296Lys)
c.6858C>G (p.Asn2286Lys)
c.6795C>G (p.Asn2265Lys)
c.5793C>G (p.Asn1931Lys)
c.241C>G
c.6994C>G (n.6994C>G)
c.64+862C>G
n.272C>G
c.6849C>G (p.Asn2283Lys)
c.6825C>G (p.Asn2275Lys)
c.6885C>G (p.Asn2295Lys)
 ClinVar dbSNP
17g.31338742C>TCA499234342NF1c.6840C>T (p.Asn2280=)
c.1422C>T (p.Asn474=)
n.2680C>T
c.1014C>T (p.Asn338=)
n.3503C>T
c.6888C>T (p.Asn2296=)
c.6858C>T (p.Asn2286=)
c.6795C>T (p.Asn2265=)
c.5793C>T (p.Asn1931=)
c.241C>T
c.6994C>T (n.6994C>T)
c.64+862C>T
n.272C>T
c.6849C>T (p.Asn2283=)
c.6825C>T (p.Asn2275=)
c.6885C>T (p.Asn2295=)
 ClinVar dbSNP gnomAD v4
17g.31338742dupCA2695225184NF1c.6840dup (p.Ser2281GlnfsTer20)
c.1422dup (p.Ser475GlnfsTer20)
n.2680dup
c.1014dup (p.Ser339GlnfsTer20)
n.3503dup
c.6888dup (p.Ser2297GlnfsTer20)
c.6858dup (p.Ser2287GlnfsTer20)
c.6795dup (p.Ser2266GlnfsTer20)
c.5793dup (p.Ser1932GlnfsTer20)
c.241dup
c.6994dup (n.6994dup)
c.64+862dup
n.272dup
c.6849dup (p.Ser2284GlnfsTer20)
c.6825dup (p.Ser2276GlnfsTer20)
c.6885dup (p.Ser2296GlnfsTer20)
17g.31338742_31338743delinsCACA2255603137NF1c.6840_6841delinsCA (p.Asn2280=)
c.1422_1423delinsCA (p.Asn474=)
n.2680_2681delinsCA
c.1014_1015delinsCA (p.Asn338=)
n.3503_3504delinsCA
c.6888_6889delinsCA (p.Asn2296=)
c.6858_6859delinsCA (p.Asn2286=)
c.6795_6796delinsCA (p.Asn2265=)
c.5793_5794delinsCA (p.Asn1931=)
c.241_242delinsCA
c.6994_6995delinsCA (n.6994_6995delinsCA)
c.64+862_64+863delinsCA
n.272_273delinsCA
c.6849_6850delinsCA (p.Asn2283=)
c.6825_6826delinsCA (p.Asn2275=)
c.6885_6886delinsCA (p.Asn2295=)
17g.31338743delCA728026808NF1c.6841del (p.Ser2281ValfsTer4)
c.1423del (p.Ser475ValfsTer4)
n.2681del
c.1015del (p.Ser339ValfsTer4)
n.3504del
c.6889del (p.Ser2297ValfsTer4)
c.6859del (p.Ser2287ValfsTer4)
c.6796del (p.Ser2266ValfsTer4)
c.5794del (p.Ser1932ValfsTer4)
c.242del
c.6995del (n.6995del)
c.64+863del
n.273del
c.6850del (p.Ser2284ValfsTer4)
c.6826del (p.Ser2276ValfsTer4)
c.6886del (p.Ser2296ValfsTer4)
 dbSNP
17g.31338743A>CCA399014327NF1c.6841A>C (p.Ser2281Arg)
c.1423A>C (p.Ser475Arg)
n.2681A>C
c.1015A>C (p.Ser339Arg)
n.3504A>C
c.6889A>C (p.Ser2297Arg)
c.6859A>C (p.Ser2287Arg)
c.6796A>C (p.Ser2266Arg)
c.5794A>C (p.Ser1932Arg)
c.242A>C
c.6995A>C (n.6995A>C)
c.64+863A>C
n.273A>C
c.6850A>C (p.Ser2284Arg)
c.6826A>C (p.Ser2276Arg)
c.6886A>C (p.Ser2296Arg)
17g.31338743A>GCA399014325NF1c.6841A>G (p.Ser2281Gly)
c.1423A>G (p.Ser475Gly)
n.2681A>G
c.1015A>G (p.Ser339Gly)
n.3504A>G
c.6889A>G (p.Ser2297Gly)
c.6859A>G (p.Ser2287Gly)
c.6796A>G (p.Ser2266Gly)
c.5794A>G (p.Ser1932Gly)
c.242A>G
c.6995A>G (n.6995A>G)
c.64+863A>G
n.273A>G
c.6850A>G (p.Ser2284Gly)
c.6826A>G (p.Ser2276Gly)
c.6886A>G (p.Ser2296Gly)
17g.31338743A>TCA399014326NF1c.6841A>T (p.Ser2281Cys)
c.1423A>T (p.Ser475Cys)
n.2681A>T
c.1015A>T (p.Ser339Cys)
n.3504A>T
c.6889A>T (p.Ser2297Cys)
c.6859A>T (p.Ser2287Cys)
c.6796A>T (p.Ser2266Cys)
c.5794A>T (p.Ser1932Cys)
c.242A>T
c.6995A>T (n.6995A>T)
c.64+863A>T
n.273A>T
c.6850A>T (p.Ser2284Cys)
c.6826A>T (p.Ser2276Cys)
c.6886A>T (p.Ser2296Cys)
17g.31338746_31338750dupCA2255603138NF1c.6844_6848dup (p.Leu2284LysfsTer3)
c.1426_1430dup (p.Leu478LysfsTer3)
n.2684_2688dup
c.1018_1022dup (p.Leu342LysfsTer3)
n.3507_3511dup
c.6892_6896dup (p.Leu2300LysfsTer3)
c.6862_6866dup (p.Leu2290LysfsTer3)
c.6799_6803dup (p.Leu2269LysfsTer3)
c.5797_5801dup (p.Leu1935LysfsTer3)
c.245_249dup
c.6998_7002dup (n.6998_7002dup)
c.64+866_64+870dup
n.276_280dup
c.6853_6857dup (p.Leu2287LysfsTer3)
c.6829_6833dup (p.Leu2279LysfsTer3)
c.6889_6893dup (p.Leu2299LysfsTer3)
 dbSNP
17g.31338746_31338750delCA2592637824NF1c.6844_6848del (p.Gln2282SerfsTer17)
c.1426_1430del (p.Gln476SerfsTer17)
n.2684_2688del
c.1018_1022del (p.Gln340SerfsTer17)
n.3507_3511del
c.6892_6896del (p.Gln2298SerfsTer17)
c.6862_6866del (p.Gln2288SerfsTer17)
c.6799_6803del (p.Gln2267SerfsTer17)
c.5797_5801del (p.Gln1933SerfsTer17)
c.245_249del
c.6998_7002del (n.6998_7002del)
c.64+866_64+870del
n.276_280del
c.6853_6857del (p.Gln2285SerfsTer17)
c.6829_6833del (p.Gln2277SerfsTer17)
c.6889_6893del (p.Gln2297SerfsTer17)
 dbSNP gnomAD v3 gnomAD v4
17g.31338744G>ACA399014328NF1c.6842G>A (p.Ser2281Asn)
c.1424G>A (p.Ser475Asn)
n.2682G>A
c.1016G>A (p.Ser339Asn)
n.3505G>A
c.6890G>A (p.Ser2297Asn)
c.6860G>A (p.Ser2287Asn)
c.6797G>A (p.Ser2266Asn)
c.5795G>A (p.Ser1932Asn)
c.243G>A
c.6996G>A (n.6996G>A)
c.64+864G>A
n.274G>A
c.6851G>A (p.Ser2284Asn)
c.6827G>A (p.Ser2276Asn)
c.6887G>A (p.Ser2296Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.31338744G>CCA399014329NF1c.6842G>C (p.Ser2281Thr)
c.1424G>C (p.Ser475Thr)
n.2682G>C
c.1016G>C (p.Ser339Thr)
n.3505G>C
c.6890G>C (p.Ser2297Thr)
c.6860G>C (p.Ser2287Thr)
c.6797G>C (p.Ser2266Thr)
c.5795G>C (p.Ser1932Thr)
c.243G>C
c.6996G>C (n.6996G>C)
c.64+864G>C
n.274G>C
c.6851G>C (p.Ser2284Thr)
c.6827G>C (p.Ser2276Thr)
c.6887G>C (p.Ser2296Thr)
 dbSNP
17g.31338744G=CA2255603139NF1c.6842G= (p.Ser2281=)
c.1424G= (p.Ser475=)
n.2682G=
c.1016G= (p.Ser339=)
n.3505G=
c.6890G= (p.Ser2297=)
c.6860G= (p.Ser2287=)
c.6797G= (p.Ser2266=)
c.5795G= (p.Ser1932=)
c.243G=
c.6996G= (n.6996G=)
c.64+864G=
n.274G=
c.6851G= (p.Ser2284=)
c.6827G= (p.Ser2276=)
c.6887G= (p.Ser2296=)
17g.31338744G>TCA399014330NF1c.6842G>T (p.Ser2281Ile)
c.1424G>T (p.Ser475Ile)
n.2682G>T
c.1016G>T (p.Ser339Ile)
n.3505G>T
c.6890G>T (p.Ser2297Ile)
c.6860G>T (p.Ser2287Ile)
c.6797G>T (p.Ser2266Ile)
c.5795G>T (p.Ser1932Ile)
c.243G>T
c.6996G>T (n.6996G>T)
c.64+864G>T
n.274G>T
c.6851G>T (p.Ser2284Ile)
c.6827G>T (p.Ser2276Ile)
c.6887G>T (p.Ser2296Ile)
 dbSNP
17g.31338744_31338745delCA2695225185NF1c.6842_6843del (p.Ser2281ThrfsTer19)
c.1424_1425del (p.Ser475ThrfsTer19)
n.2682_2683del
c.1016_1017del (p.Ser339ThrfsTer19)
n.3505_3506del
c.6890_6891del (p.Ser2297ThrfsTer19)
c.6860_6861del (p.Ser2287ThrfsTer19)
c.6797_6798del (p.Ser2266ThrfsTer19)
c.5795_5796del (p.Ser1932ThrfsTer19)
c.243_244del
c.6996_6997del (n.6996_6997del)
c.64+864_64+865del
n.274_275del
c.6851_6852del (p.Ser2284ThrfsTer19)
c.6827_6828del (p.Ser2276ThrfsTer19)
c.6887_6888del (p.Ser2296ThrfsTer19)
17g.31338745T>ACA399014331NF1c.6843T>A (p.Ser2281Arg)
c.1425T>A (p.Ser475Arg)
n.2683T>A
c.1017T>A (p.Ser339Arg)
n.3506T>A
c.6891T>A (p.Ser2297Arg)
c.6861T>A (p.Ser2287Arg)
c.6798T>A (p.Ser2266Arg)
c.5796T>A (p.Ser1932Arg)
c.244T>A
c.6997T>A (n.6997T>A)
c.64+865T>A
n.275T>A
c.6852T>A (p.Ser2284Arg)
c.6828T>A (p.Ser2276Arg)
c.6888T>A (p.Ser2296Arg)
 dbSNP
17g.31338745T>CCA499234343NF1c.6843T>C (p.Ser2281=)
c.1425T>C (p.Ser475=)
n.2683T>C
c.1017T>C (p.Ser339=)
n.3506T>C
c.6891T>C (p.Ser2297=)
c.6861T>C (p.Ser2287=)
c.6798T>C (p.Ser2266=)
c.5796T>C (p.Ser1932=)
c.244T>C
c.6997T>C (n.6997T>C)
c.64+865T>C
n.275T>C
c.6852T>C (p.Ser2284=)
c.6828T>C (p.Ser2276=)
c.6888T>C (p.Ser2296=)
 ClinVar
17g.31338745T>GCA399014332NF1c.6843T>G (p.Ser2281Arg)
c.1425T>G (p.Ser475Arg)
n.2683T>G
c.1017T>G (p.Ser339Arg)
n.3506T>G
c.6891T>G (p.Ser2297Arg)
c.6861T>G (p.Ser2287Arg)
c.6798T>G (p.Ser2266Arg)
c.5796T>G (p.Ser1932Arg)
c.244T>G
c.6997T>G (n.6997T>G)
c.64+865T>G
n.275T>G
c.6852T>G (p.Ser2284Arg)
c.6828T>G (p.Ser2276Arg)
c.6888T>G (p.Ser2296Arg)
 ClinVar dbSNP
17g.31338745T=CA2255603140NF1c.6843T= (p.Ser2281=)
c.1425T= (p.Ser475=)
n.2683T=
c.1017T= (p.Ser339=)
n.3506T=
c.6891T= (p.Ser2297=)
c.6861T= (p.Ser2287=)
c.6798T= (p.Ser2266=)
c.5796T= (p.Ser1932=)
c.244T=
c.6997T= (n.6997T=)
c.64+865T=
n.275T=
c.6852T= (p.Ser2284=)
c.6828T= (p.Ser2276=)
c.6888T= (p.Ser2296=)
17g.31338745_31338748dupCA891844408NF1c.6843_6846dup (p.Val2283SerfsTer19)
c.1425_1428dup (p.Val477SerfsTer19)
n.2683_2686dup
c.1017_1020dup (p.Val341SerfsTer19)
n.3506_3509dup
c.6891_6894dup (p.Val2299SerfsTer19)
c.6861_6864dup (p.Val2289SerfsTer19)
c.6798_6801dup (p.Val2268SerfsTer19)
c.5796_5799dup (p.Val1934SerfsTer19)
c.244_247dup
c.6997_7000dup (n.6997_7000dup)
c.64+865_64+868dup
n.275_278dup
c.6852_6855dup (p.Val2286SerfsTer19)
c.6828_6831dup (p.Val2278SerfsTer19)
c.6888_6891dup (p.Val2298SerfsTer19)
 ClinVar dbSNP
17g.31338746C>ACA399014333NF1c.6844C>A (p.Gln2282Lys)
c.1426C>A (p.Gln476Lys)
n.2684C>A
c.1018C>A (p.Gln340Lys)
n.3507C>A
c.6892C>A (p.Gln2298Lys)
c.6862C>A (p.Gln2288Lys)
c.6799C>A (p.Gln2267Lys)
c.5797C>A (p.Gln1933Lys)
c.245C>A
c.6998C>A (n.6998C>A)
c.64+866C>A
n.276C>A
c.6853C>A (p.Gln2285Lys)
c.6829C>A (p.Gln2277Lys)
c.6889C>A (p.Gln2297Lys)
17g.31338746C>GCA399014335NF1c.6844C>G (p.Gln2282Glu)
c.1426C>G (p.Gln476Glu)
n.2684C>G
c.1018C>G (p.Gln340Glu)
n.3507C>G
c.6892C>G (p.Gln2298Glu)
c.6862C>G (p.Gln2288Glu)
c.6799C>G (p.Gln2267Glu)
c.5797C>G (p.Gln1933Glu)
c.245C>G
c.6998C>G (n.6998C>G)
c.64+866C>G
n.276C>G
c.6853C>G (p.Gln2285Glu)
c.6829C>G (p.Gln2277Glu)
c.6889C>G (p.Gln2297Glu)
 dbSNP
17g.31338746C>TCA399014334NF1c.6844C>T (p.Gln2282Ter)
c.1426C>T (p.Gln476Ter)
n.2684C>T
c.1018C>T (p.Gln340Ter)
n.3507C>T
c.6892C>T (p.Gln2298Ter)
c.6862C>T (p.Gln2288Ter)
c.6799C>T (p.Gln2267Ter)
c.5797C>T (p.Gln1933Ter)
c.245C>T
c.6998C>T (n.6998C>T)
c.64+866C>T
n.276C>T
c.6853C>T (p.Gln2285Ter)
c.6829C>T (p.Gln2277Ter)
c.6889C>T (p.Gln2297Ter)
 ClinVar dbSNP
17g.31338747A>CCA399014336NF1c.6845A>C (p.Gln2282Pro)
c.1427A>C (p.Gln476Pro)
n.2685A>C
c.1019A>C (p.Gln340Pro)
n.3508A>C
c.6893A>C (p.Gln2298Pro)
c.6863A>C (p.Gln2288Pro)
c.6800A>C (p.Gln2267Pro)
c.5798A>C (p.Gln1933Pro)
c.246A>C
c.6999A>C (n.6999A>C)
c.64+867A>C
n.277A>C
c.6854A>C (p.Gln2285Pro)
c.6830A>C (p.Gln2277Pro)
c.6890A>C (p.Gln2297Pro)
17g.31338747A>GCA399014338NF1c.6845A>G (p.Gln2282Arg)
c.1427A>G (p.Gln476Arg)
n.2685A>G
c.1019A>G (p.Gln340Arg)
n.3508A>G
c.6893A>G (p.Gln2298Arg)
c.6863A>G (p.Gln2288Arg)
c.6800A>G (p.Gln2267Arg)
c.5798A>G (p.Gln1933Arg)
c.246A>G
c.6999A>G (n.6999A>G)
c.64+867A>G
n.277A>G
c.6854A>G (p.Gln2285Arg)
c.6830A>G (p.Gln2277Arg)
c.6890A>G (p.Gln2297Arg)
17g.31338747A>TCA399014337NF1c.6845A>T (p.Gln2282Leu)
c.1427A>T (p.Gln476Leu)
n.2685A>T
c.1019A>T (p.Gln340Leu)
n.3508A>T
c.6893A>T (p.Gln2298Leu)
c.6863A>T (p.Gln2288Leu)
c.6800A>T (p.Gln2267Leu)
c.5798A>T (p.Gln1933Leu)
c.246A>T
c.6999A>T (n.6999A>T)
c.64+867A>T
n.277A>T
c.6854A>T (p.Gln2285Leu)
c.6830A>T (p.Gln2277Leu)
c.6890A>T (p.Gln2297Leu)
17g.31338747_31338748delCA645572250NF1c.6845_6846del (p.Gln2282ArgfsTer18)
c.1427_1428del (p.Gln476ArgfsTer18)
n.2685_2686del
c.1019_1020del (p.Gln340ArgfsTer18)
n.3508_3509del
c.6893_6894del (p.Gln2298ArgfsTer18)
c.6863_6864del (p.Gln2288ArgfsTer18)
c.6800_6801del (p.Gln2267ArgfsTer18)
c.5798_5799del (p.Gln1933ArgfsTer18)
c.246_247del
c.6999_7000del (n.6999_7000del)
c.64+867_64+868del
n.277_278del
c.6854_6855del (p.Gln2285ArgfsTer18)
c.6830_6831del (p.Gln2277ArgfsTer18)
c.6890_6891del (p.Gln2297ArgfsTer18)
 COSMIC
17g.31338748A=CA2255603141NF1c.6846A= (p.Gln2282=)
c.1428A= (p.Gln476=)
n.2686A=
c.1020A= (p.Gln340=)
n.3509A=
c.6894A= (p.Gln2298=)
c.6864A= (p.Gln2288=)
c.6801A= (p.Gln2267=)
c.5799A= (p.Gln1933=)
c.247A=
c.7000A= (n.7000A=)
c.64+868A=
n.278A=
c.6855A= (p.Gln2285=)
c.6831A= (p.Gln2277=)
c.6891A= (p.Gln2297=)
17g.31338748A>CCA399014339NF1c.6846A>C (p.Gln2282His)
c.1428A>C (p.Gln476His)
n.2686A>C
c.1020A>C (p.Gln340His)
n.3509A>C
c.6894A>C (p.Gln2298His)
c.6864A>C (p.Gln2288His)
c.6801A>C (p.Gln2267His)
c.5799A>C (p.Gln1933His)
c.247A>C
c.7000A>C (n.7000A>C)
c.64+868A>C
n.278A>C
c.6855A>C (p.Gln2285His)
c.6831A>C (p.Gln2277His)
c.6891A>C (p.Gln2297His)
17g.31338748A>GCA16620374NF1c.6846A>G (p.Gln2282=)
c.1428A>G (p.Gln476=)
n.2686A>G
c.1020A>G (p.Gln340=)
n.3509A>G
c.6894A>G (p.Gln2298=)
c.6864A>G (p.Gln2288=)
c.6801A>G (p.Gln2267=)
c.5799A>G (p.Gln1933=)
c.247A>G
c.7000A>G (n.7000A>G)
c.64+868A>G
n.278A>G
c.6855A>G (p.Gln2285=)
c.6831A>G (p.Gln2277=)
c.6891A>G (p.Gln2297=)
 ClinVar dbSNP gnomAD v4
17g.31338748A>TCA399014340NF1c.6846A>T (p.Gln2282His)
c.1428A>T (p.Gln476His)
n.2686A>T
c.1020A>T (p.Gln340His)
n.3509A>T
c.6894A>T (p.Gln2298His)
c.6864A>T (p.Gln2288His)
c.6801A>T (p.Gln2267His)
c.5799A>T (p.Gln1933His)
c.247A>T
c.7000A>T (n.7000A>T)
c.64+868A>T
n.278A>T
c.6855A>T (p.Gln2285His)
c.6831A>T (p.Gln2277His)
c.6891A>T (p.Gln2297His)
 dbSNP
17g.31338748_31338749delCA2695225186NF1c.6846_6847del (p.Gln2282HisfsTer18)
c.1428_1429del (p.Gln476HisfsTer18)
n.2686_2687del
c.1020_1021del (p.Gln340HisfsTer18)
n.3509_3510del
c.6894_6895del (p.Gln2298HisfsTer18)
c.6864_6865del (p.Gln2288HisfsTer18)
c.6801_6802del (p.Gln2267HisfsTer18)
c.5799_5800del (p.Gln1933HisfsTer18)
c.247_248del
c.7000_7001del (n.7000_7001del)
c.64+868_64+869del
n.278_279del
c.6855_6856del (p.Gln2285HisfsTer18)
c.6831_6832del (p.Gln2277HisfsTer18)
c.6891_6892del (p.Gln2297HisfsTer18)
17g.31338749G>ACA399014341NF1c.6847G>A (p.Val2283Ile)
c.1429G>A (p.Val477Ile)
n.2687G>A
c.1021G>A (p.Val341Ile)
n.3510G>A
c.6895G>A (p.Val2299Ile)
c.6865G>A (p.Val2289Ile)
c.6802G>A (p.Val2268Ile)
c.5800G>A (p.Val1934Ile)
c.248G>A
c.7001G>A (n.7001G>A)
c.64+869G>A
n.279G>A
c.6856G>A (p.Val2286Ile)
c.6832G>A (p.Val2278Ile)
c.6892G>A (p.Val2298Ile)
 dbSNP
17g.31338749G>CCA289388377NF1c.6847G>C (p.Val2283Leu)
c.1429G>C (p.Val477Leu)
n.2687G>C
c.1021G>C (p.Val341Leu)
n.3510G>C
c.6895G>C (p.Val2299Leu)
c.6865G>C (p.Val2289Leu)
c.6802G>C (p.Val2268Leu)
c.5800G>C (p.Val1934Leu)
c.248G>C
c.7001G>C (n.7001G>C)
c.64+869G>C
n.279G>C
c.6856G>C (p.Val2286Leu)
c.6832G>C (p.Val2278Leu)
c.6892G>C (p.Val2298Leu)
 ClinVar dbSNP
17g.31338749G=CA2255603142NF1c.6847G= (p.Val2283=)
c.1429G= (p.Val477=)
n.2687G=
c.1021G= (p.Val341=)
n.3510G=
c.6895G= (p.Val2299=)
c.6865G= (p.Val2289=)
c.6802G= (p.Val2268=)
c.5800G= (p.Val1934=)
c.248G=
c.7001G= (n.7001G=)
c.64+869G=
n.279G=
c.6856G= (p.Val2286=)
c.6832G= (p.Val2278=)
c.6892G= (p.Val2298=)
17g.31338749G>TCA399014342NF1c.6847G>T (p.Val2283Phe)
c.1429G>T (p.Val477Phe)
n.2687G>T
c.1021G>T (p.Val341Phe)
n.3510G>T
c.6895G>T (p.Val2299Phe)
c.6865G>T (p.Val2289Phe)
c.6802G>T (p.Val2268Phe)
c.5800G>T (p.Val1934Phe)
c.248G>T
c.7001G>T (n.7001G>T)
c.64+869G>T
n.279G>T
c.6856G>T (p.Val2286Phe)
c.6832G>T (p.Val2278Phe)
c.6892G>T (p.Val2298Phe)
17g.31338750T>ACA399014343NF1c.6848T>A (p.Val2283Asp)
c.1430T>A (p.Val477Asp)
n.2688T>A
c.1022T>A (p.Val341Asp)
n.3511T>A
c.6896T>A (p.Val2299Asp)
c.6866T>A (p.Val2289Asp)
c.6803T>A (p.Val2268Asp)
c.5801T>A (p.Val1934Asp)
c.249T>A
c.7002T>A (n.7002T>A)
c.64+870T>A
n.280T>A
c.6857T>A (p.Val2286Asp)
c.6833T>A (p.Val2278Asp)
c.6893T>A (p.Val2298Asp)
 dbSNP
17g.31338750T>CCA399014344NF1c.6848T>C (p.Val2283Ala)
c.1430T>C (p.Val477Ala)
n.2688T>C
c.1022T>C (p.Val341Ala)
n.3511T>C
c.6896T>C (p.Val2299Ala)
c.6866T>C (p.Val2289Ala)
c.6803T>C (p.Val2268Ala)
c.5801T>C (p.Val1934Ala)
c.249T>C
c.7002T>C (n.7002T>C)
c.64+870T>C
n.280T>C
c.6857T>C (p.Val2286Ala)
c.6833T>C (p.Val2278Ala)
c.6893T>C (p.Val2298Ala)
 dbSNP
17g.31338750T>GCA399014345NF1c.6848T>G (p.Val2283Gly)
c.1430T>G (p.Val477Gly)
n.2688T>G
c.1022T>G (p.Val341Gly)
n.3511T>G
c.6896T>G (p.Val2299Gly)
c.6866T>G (p.Val2289Gly)
c.6803T>G (p.Val2268Gly)
c.5801T>G (p.Val1934Gly)
c.249T>G
c.7002T>G (n.7002T>G)
c.64+870T>G
n.280T>G
c.6857T>G (p.Val2286Gly)
c.6833T>G (p.Val2278Gly)
c.6893T>G (p.Val2298Gly)
17g.31338751T>ACA499234344NF1c.6849T>A (p.Val2283=)
c.1431T>A (p.Val477=)
n.2689T>A
c.1023T>A (p.Val341=)
n.3512T>A
c.6897T>A (p.Val2299=)
c.6867T>A (p.Val2289=)
c.6804T>A (p.Val2268=)
c.5802T>A (p.Val1934=)
c.250T>A
c.7003T>A (n.7003T>A)
c.64+871T>A
n.281T>A
c.6858T>A (p.Val2286=)
c.6834T>A (p.Val2278=)
c.6894T>A (p.Val2298=)
17g.31338751T>CCA499234345NF1c.6849T>C (p.Val2283=)
c.1431T>C (p.Val477=)
n.2689T>C
c.1023T>C (p.Val341=)
n.3512T>C
c.6897T>C (p.Val2299=)
c.6867T>C (p.Val2289=)
c.6804T>C (p.Val2268=)
c.5802T>C (p.Val1934=)
c.250T>C
c.7003T>C (n.7003T>C)
c.64+871T>C
n.281T>C
c.6858T>C (p.Val2286=)
c.6834T>C (p.Val2278=)
c.6894T>C (p.Val2298=)
 ClinVar dbSNP gnomAD v4
17g.31338751T>GCA499234346NF1c.6849T>G (p.Val2283=)
c.1431T>G (p.Val477=)
n.2689T>G
c.1023T>G (p.Val341=)
n.3512T>G
c.6897T>G (p.Val2299=)
c.6867T>G (p.Val2289=)
c.6804T>G (p.Val2268=)
c.5802T>G (p.Val1934=)
c.250T>G
c.7003T>G (n.7003T>G)
c.64+871T>G
n.281T>G
c.6858T>G (p.Val2286=)
c.6834T>G (p.Val2278=)
c.6894T>G (p.Val2298=)
17g.31338752C>ACA399014346NF1c.6850C>A (p.Leu2284Met)
c.1432C>A (p.Leu478Met)
n.2690C>A
c.1024C>A (p.Leu342Met)
n.3513C>A
c.6898C>A (p.Leu2300Met)
c.6868C>A (p.Leu2290Met)
c.6805C>A (p.Leu2269Met)
c.5803C>A (p.Leu1935Met)
c.251C>A
c.7004C>A (n.7004C>A)
c.64+872C>A
n.282C>A
c.6859C>A (p.Leu2287Met)
c.6835C>A (p.Leu2279Met)
c.6895C>A (p.Leu2299Met)
17g.31338752C>GCA399014347NF1c.6850C>G (p.Leu2284Val)
c.1432C>G (p.Leu478Val)
n.2690C>G
c.1024C>G (p.Leu342Val)
n.3513C>G
c.6898C>G (p.Leu2300Val)
c.6868C>G (p.Leu2290Val)
c.6805C>G (p.Leu2269Val)
c.5803C>G (p.Leu1935Val)
c.251C>G
c.7004C>G (n.7004C>G)
c.64+872C>G
n.282C>G
c.6859C>G (p.Leu2287Val)
c.6835C>G (p.Leu2279Val)
c.6895C>G (p.Leu2299Val)
 dbSNP
17g.31338752C>TCA499234347NF1c.6850C>T (p.Leu2284=)
c.1432C>T (p.Leu478=)
n.2690C>T
c.1024C>T (p.Leu342=)
n.3513C>T
c.6898C>T (p.Leu2300=)
c.6868C>T (p.Leu2290=)
c.6805C>T (p.Leu2269=)
c.5803C>T (p.Leu1935=)
c.251C>T
c.7004C>T (n.7004C>T)
c.64+872C>T
n.282C>T
c.6859C>T (p.Leu2287=)
c.6835C>T (p.Leu2279=)
c.6895C>T (p.Leu2299=)
 ClinVar dbSNP gnomAD v4
17g.31338753T>ACA399014348NF1c.6851T>A (p.Leu2284Gln)
c.1433T>A (p.Leu478Gln)
n.2691T>A
c.1025T>A (p.Leu342Gln)
n.3514T>A
c.6899T>A (p.Leu2300Gln)
c.6869T>A (p.Leu2290Gln)
c.6806T>A (p.Leu2269Gln)
c.5804T>A (p.Leu1935Gln)
c.252T>A
c.7005T>A (n.7005T>A)
c.64+873T>A
n.283T>A
c.6860T>A (p.Leu2287Gln)
c.6836T>A (p.Leu2279Gln)
c.6896T>A (p.Leu2299Gln)
17g.31338753T>CCA399014349NF1c.6851T>C (p.Leu2284Pro)
c.1433T>C (p.Leu478Pro)
n.2691T>C
c.1025T>C (p.Leu342Pro)
n.3514T>C
c.6899T>C (p.Leu2300Pro)
c.6869T>C (p.Leu2290Pro)
c.6806T>C (p.Leu2269Pro)
c.5804T>C (p.Leu1935Pro)
c.252T>C
c.7005T>C (n.7005T>C)
c.64+873T>C
n.283T>C
c.6860T>C (p.Leu2287Pro)
c.6836T>C (p.Leu2279Pro)
c.6896T>C (p.Leu2299Pro)
 ClinVar
17g.31338753T>GCA399014350NF1c.6851T>G (p.Leu2284Arg)
c.1433T>G (p.Leu478Arg)
n.2691T>G
c.1025T>G (p.Leu342Arg)
n.3514T>G
c.6899T>G (p.Leu2300Arg)
c.6869T>G (p.Leu2290Arg)
c.6806T>G (p.Leu2269Arg)
c.5804T>G (p.Leu1935Arg)
c.252T>G
c.7005T>G (n.7005T>G)
c.64+873T>G
n.283T>G
c.6860T>G (p.Leu2287Arg)
c.6836T>G (p.Leu2279Arg)
c.6896T>G (p.Leu2299Arg)
 ClinVar gnomAD v4
17g.31338754G>ACA8487443NF1c.6852G>A (p.Leu2284=)
c.1434G>A (p.Leu478=)
n.2692G>A
c.1026G>A (p.Leu342=)
n.3515G>A
c.6900G>A (p.Leu2300=)
c.6870G>A (p.Leu2290=)
c.6807G>A (p.Leu2269=)
c.5805G>A (p.Leu1935=)
c.253G>A
c.7006G>A (n.7006G>A)
c.64+874G>A
n.284G>A
c.6861G>A (p.Leu2287=)
c.6837G>A (p.Leu2279=)
c.6897G>A (p.Leu2299=)
 ClinVar dbSNP ExAC
17g.31338754G>CCA499234348NF1c.6852G>C (p.Leu2284=)
c.1434G>C (p.Leu478=)
n.2692G>C
c.1026G>C (p.Leu342=)
n.3515G>C
c.6900G>C (p.Leu2300=)
c.6870G>C (p.Leu2290=)
c.6807G>C (p.Leu2269=)
c.5805G>C (p.Leu1935=)
c.253G>C
c.7006G>C (n.7006G>C)
c.64+874G>C
n.284G>C
c.6861G>C (p.Leu2287=)
c.6837G>C (p.Leu2279=)
c.6897G>C (p.Leu2299=)
 ClinVar dbSNP
17g.31338754G=CA2255603143NF1c.6852G= (p.Leu2284=)
c.1434G= (p.Leu478=)
n.2692G=
c.1026G= (p.Leu342=)
n.3515G=
c.6900G= (p.Leu2300=)
c.6870G= (p.Leu2290=)
c.6807G= (p.Leu2269=)
c.5805G= (p.Leu1935=)
c.253G=
c.7006G= (n.7006G=)
c.64+874G=
n.284G=
c.6861G= (p.Leu2287=)
c.6837G= (p.Leu2279=)
c.6897G= (p.Leu2299=)
17g.31338754G>TCA337083NF1c.6852G>T (p.Leu2284=)
c.1434G>T (p.Leu478=)
n.2692G>T
c.1026G>T (p.Leu342=)
n.3515G>T
c.6900G>T (p.Leu2300=)
c.6870G>T (p.Leu2290=)
c.6807G>T (p.Leu2269=)
c.5805G>T (p.Leu1935=)
c.253G>T
c.7006G>T (n.7006G>T)
c.64+874G>T
n.284G>T
c.6861G>T (p.Leu2287=)
c.6837G>T (p.Leu2279=)
c.6897G>T (p.Leu2299=)
 ClinVar dbSNP
17g.31338755delCA2580093167NF1c.6853del (p.Ile2285Ter)
c.1435del (p.Ile479Ter)
n.2693del
c.1027del (p.Ile343Ter)
n.3516del
c.6901del (p.Ile2301Ter)
c.6871del (p.Ile2291Ter)
c.6808del (p.Ile2270Ter)
c.5806del (p.Ile1936Ter)
c.254del
c.7007del (n.7007del)
c.64+875del
n.285del
c.6862del (p.Ile2288Ter)
c.6838del (p.Ile2280Ter)
c.6898del (p.Ile2300Ter)
 ClinVar
17g.31338755A=CA2255603144NF1c.6853A= (p.Ile2285=)
c.1435A= (p.Ile479=)
n.2693A=
c.1027A= (p.Ile343=)
n.3516A=
c.6901A= (p.Ile2301=)
c.6871A= (p.Ile2291=)
c.6808A= (p.Ile2270=)
c.5806A= (p.Ile1936=)
c.254A=
c.7007A= (n.7007A=)
c.64+875A=
n.285A=
c.6862A= (p.Ile2288=)
c.6838A= (p.Ile2280=)
c.6898A= (p.Ile2300=)
17g.31338755A>CCA10580393NF1c.6853A>C (p.Ile2285Leu)
c.1435A>C (p.Ile479Leu)
n.2693A>C
c.1027A>C (p.Ile343Leu)
n.3516A>C
c.6901A>C (p.Ile2301Leu)
c.6871A>C (p.Ile2291Leu)
c.6808A>C (p.Ile2270Leu)
c.5806A>C (p.Ile1936Leu)
c.254A>C
c.7007A>C (n.7007A>C)
c.64+875A>C
n.285A>C
c.6862A>C (p.Ile2288Leu)
c.6838A>C (p.Ile2280Leu)
c.6898A>C (p.Ile2300Leu)
 ClinVar dbSNP gnomAD v4
17g.31338755A>GCA399014351NF1c.6853A>G (p.Ile2285Val)
c.1435A>G (p.Ile479Val)
n.2693A>G
c.1027A>G (p.Ile343Val)
n.3516A>G
c.6901A>G (p.Ile2301Val)
c.6871A>G (p.Ile2291Val)
c.6808A>G (p.Ile2270Val)
c.5806A>G (p.Ile1936Val)
c.254A>G
c.7007A>G (n.7007A>G)
c.64+875A>G
n.285A>G
c.6862A>G (p.Ile2288Val)
c.6838A>G (p.Ile2280Val)
c.6898A>G (p.Ile2300Val)
17g.31338755A>TCA399014352NF1c.6853A>T (p.Ile2285Leu)
c.1435A>T (p.Ile479Leu)
n.2693A>T
c.1027A>T (p.Ile343Leu)
n.3516A>T
c.6901A>T (p.Ile2301Leu)
c.6871A>T (p.Ile2291Leu)
c.6808A>T (p.Ile2270Leu)
c.5806A>T (p.Ile1936Leu)
c.254A>T
c.7007A>T (n.7007A>T)
c.64+875A>T
n.285A>T
c.6862A>T (p.Ile2288Leu)
c.6838A>T (p.Ile2280Leu)
c.6898A>T (p.Ile2300Leu)
 ClinVar dbSNP
17g.31338756T>ACA399014353NF1c.6854T>A (p.Ile2285Lys)
c.1436T>A (p.Ile479Lys)
n.2694T>A
c.1028T>A (p.Ile343Lys)
n.3517T>A
c.6902T>A (p.Ile2301Lys)
c.6872T>A (p.Ile2291Lys)
c.6809T>A (p.Ile2270Lys)
c.5807T>A (p.Ile1936Lys)
c.255T>A
c.7008T>A (n.7008T>A)
c.64+876T>A
n.286T>A
c.6863T>A (p.Ile2288Lys)
c.6839T>A (p.Ile2280Lys)
c.6899T>A (p.Ile2300Lys)
17g.31338756T>CCA399014355NF1c.6854T>C (p.Ile2285Thr)
c.1436T>C (p.Ile479Thr)
n.2694T>C
c.1028T>C (p.Ile343Thr)
n.3517T>C
c.6902T>C (p.Ile2301Thr)
c.6872T>C (p.Ile2291Thr)
c.6809T>C (p.Ile2270Thr)
c.5807T>C (p.Ile1936Thr)
c.255T>C
c.7008T>C (n.7008T>C)
c.64+876T>C
n.286T>C
c.6863T>C (p.Ile2288Thr)
c.6839T>C (p.Ile2280Thr)
c.6899T>C (p.Ile2300Thr)
 ClinVar
17g.31338756T>GCA399014354NF1c.6854T>G (p.Ile2285Arg)
c.1436T>G (p.Ile479Arg)
n.2694T>G
c.1028T>G (p.Ile343Arg)
n.3517T>G
c.6902T>G (p.Ile2301Arg)
c.6872T>G (p.Ile2291Arg)
c.6809T>G (p.Ile2270Arg)
c.5807T>G (p.Ile1936Arg)
c.255T>G
c.7008T>G (n.7008T>G)
c.64+876T>G
n.286T>G
c.6863T>G (p.Ile2288Arg)
c.6839T>G (p.Ile2280Arg)
c.6899T>G (p.Ile2300Arg)
17g.31338757A>CCA499234349NF1c.6855A>C (p.Ile2285=)
c.1437A>C (p.Ile479=)
n.2695A>C
c.1029A>C (p.Ile343=)
n.3518A>C
c.6903A>C (p.Ile2301=)
c.6873A>C (p.Ile2291=)
c.6810A>C (p.Ile2270=)
c.5808A>C (p.Ile1936=)
c.256A>C
c.7009A>C (n.7009A>C)
c.64+877A>C
n.287A>C
c.6864A>C (p.Ile2288=)
c.6840A>C (p.Ile2280=)
c.6900A>C (p.Ile2300=)
17g.31338757A>GCA399014356NF1c.6855A>G (p.Ile2285Met)
c.1437A>G (p.Ile479Met)
n.2695A>G
c.1029A>G (p.Ile343Met)
n.3518A>G
c.6903A>G (p.Ile2301Met)
c.6873A>G (p.Ile2291Met)
c.6810A>G (p.Ile2270Met)
c.5808A>G (p.Ile1936Met)
c.256A>G
c.7009A>G (n.7009A>G)
c.64+877A>G
n.287A>G
c.6864A>G (p.Ile2288Met)
c.6840A>G (p.Ile2280Met)
c.6900A>G (p.Ile2300Met)
 dbSNP gnomAD v4
17g.31338757A>TCA499234350NF1c.6855A>T (p.Ile2285=)
c.1437A>T (p.Ile479=)
n.2695A>T
c.1029A>T (p.Ile343=)
n.3518A>T
c.6903A>T (p.Ile2301=)
c.6873A>T (p.Ile2291=)
c.6810A>T (p.Ile2270=)
c.5808A>T (p.Ile1936=)
c.256A>T
c.7009A>T (n.7009A>T)
c.64+877A>T
n.287A>T
c.6864A>T (p.Ile2288=)
c.6840A>T (p.Ile2280=)
c.6900A>T (p.Ile2300=)
17g.31338757_31338758insAACA658760999NF1c.6855_6856insAA (p.Glu2286LysfsTer5)
c.1437_1438insAA (p.Glu480LysfsTer5)
n.2695_2696insAA
c.1029_1030insAA (p.Glu344LysfsTer5)
n.3518_3519insAA
c.6903_6904insAA (p.Glu2302LysfsTer5)
c.6873_6874insAA (p.Glu2292LysfsTer5)
c.6810_6811insAA (p.Glu2271LysfsTer5)
c.5808_5809insAA (p.Glu1937LysfsTer5)
c.256_257insAA
c.7009_7010insAA (n.7009_7010insAA)
c.64+877_64+878insAA
n.287_288insAA
c.6864_6865insAA (p.Glu2289LysfsTer5)
c.6840_6841insAA (p.Glu2281LysfsTer5)
c.6900_6901insAA (p.Glu2301LysfsTer5)
17g.31338757_31338761delCA2695225187NF1c.6855_6859del (p.Glu2286TyrfsTer13)
c.1437_1441del (p.Glu480TyrfsTer13)
n.2695_2699del
c.1029_1033del (p.Glu344TyrfsTer13)
n.3518_3522del
c.6903_6907del (p.Glu2302TyrfsTer13)
c.6873_6877del (p.Glu2292TyrfsTer13)
c.6810_6814del (p.Glu2271TyrfsTer13)
c.5808_5812del (p.Glu1937TyrfsTer13)
c.256_260del
c.7009_7013del (n.7009_7013del)
c.64+877_64+881del
n.287_291del
c.6864_6868del (p.Glu2289TyrfsTer13)
c.6840_6844del (p.Glu2281TyrfsTer13)
c.6900_6904del (p.Glu2301TyrfsTer13)
17g.31338758G>ACA399014357NF1c.6856G>A (p.Glu2286Lys)
c.1438G>A (p.Glu480Lys)
n.2696G>A
c.1030G>A (p.Glu344Lys)
n.3519G>A
c.6904G>A (p.Glu2302Lys)
c.6874G>A (p.Glu2292Lys)
c.6811G>A (p.Glu2271Lys)
c.5809G>A (p.Glu1937Lys)
c.257G>A
c.7010G>A (n.7010G>A)
c.64+878G>A
n.288G>A
c.6865G>A (p.Glu2289Lys)
c.6841G>A (p.Glu2281Lys)
c.6901G>A (p.Glu2301Lys)
 dbSNP
17g.31338758G>CCA399014358NF1c.6856G>C (p.Glu2286Gln)
c.1438G>C (p.Glu480Gln)
n.2696G>C
c.1030G>C (p.Glu344Gln)
n.3519G>C
c.6904G>C (p.Glu2302Gln)
c.6874G>C (p.Glu2292Gln)
c.6811G>C (p.Glu2271Gln)
c.5809G>C (p.Glu1937Gln)
c.257G>C
c.7010G>C (n.7010G>C)
c.64+878G>C
n.288G>C
c.6865G>C (p.Glu2289Gln)
c.6841G>C (p.Glu2281Gln)
c.6901G>C (p.Glu2301Gln)
 dbSNP
17g.31338758G>TCA399014359NF1c.6856G>T (p.Glu2286Ter)
c.1438G>T (p.Glu480Ter)
n.2696G>T
c.1030G>T (p.Glu344Ter)
n.3519G>T
c.6904G>T (p.Glu2302Ter)
c.6874G>T (p.Glu2292Ter)
c.6811G>T (p.Glu2271Ter)
c.5809G>T (p.Glu1937Ter)
c.257G>T
c.7010G>T (n.7010G>T)
c.64+878G>T
n.288G>T
c.6865G>T (p.Glu2289Ter)
c.6841G>T (p.Glu2281Ter)
c.6901G>T (p.Glu2301Ter)
17g.31338759A>CCA399014360NF1c.6857A>C (p.Glu2286Ala)
c.1439A>C (p.Glu480Ala)
n.2697A>C
c.1031A>C (p.Glu344Ala)
n.3520A>C
c.6905A>C (p.Glu2302Ala)
c.6875A>C (p.Glu2292Ala)
c.6812A>C (p.Glu2271Ala)
c.5810A>C (p.Glu1937Ala)
c.258A>C
c.7011A>C (n.7011A>C)
c.64+879A>C
n.289A>C
c.6866A>C (p.Glu2289Ala)
c.6842A>C (p.Glu2281Ala)
c.6902A>C (p.Glu2301Ala)
17g.31338759A>GCA399014361NF1c.6857A>G (p.Glu2286Gly)
c.1439A>G (p.Glu480Gly)
n.2697A>G
c.1031A>G (p.Glu344Gly)
n.3520A>G
c.6905A>G (p.Glu2302Gly)
c.6875A>G (p.Glu2292Gly)
c.6812A>G (p.Glu2271Gly)
c.5810A>G (p.Glu1937Gly)
c.258A>G
c.7011A>G (n.7011A>G)
c.64+879A>G
n.289A>G
c.6866A>G (p.Glu2289Gly)
c.6842A>G (p.Glu2281Gly)
c.6902A>G (p.Glu2301Gly)
 dbSNP
17g.31338759A>TCA399014362NF1c.6857A>T (p.Glu2286Val)
c.1439A>T (p.Glu480Val)
n.2697A>T
c.1031A>T (p.Glu344Val)
n.3520A>T
c.6905A>T (p.Glu2302Val)
c.6875A>T (p.Glu2292Val)
c.6812A>T (p.Glu2271Val)
c.5810A>T (p.Glu1937Val)
c.258A>T
c.7011A>T (n.7011A>T)
c.64+879A>T
n.289A>T
c.6866A>T (p.Glu2289Val)
c.6842A>T (p.Glu2281Val)
c.6902A>T (p.Glu2301Val)
 dbSNP
17g.31338760A>CCA399014363NF1c.6858A>C (p.Glu2286Asp)
c.1440A>C (p.Glu480Asp)
n.2698A>C
c.1032A>C (p.Glu344Asp)
n.3521A>C
c.6906A>C (p.Glu2302Asp)
c.6876A>C (p.Glu2292Asp)
c.6813A>C (p.Glu2271Asp)
c.5811A>C (p.Glu1937Asp)
c.259A>C
c.7012A>C (n.7012A>C)
c.64+880A>C
n.290A>C
c.6867A>C (p.Glu2289Asp)
c.6843A>C (p.Glu2281Asp)
c.6903A>C (p.Glu2301Asp)
17g.31338760A>GCA499234351NF1c.6858A>G (p.Glu2286=)
c.1440A>G (p.Glu480=)
n.2698A>G
c.1032A>G (p.Glu344=)
n.3521A>G
c.6906A>G (p.Glu2302=)
c.6876A>G (p.Glu2292=)
c.6813A>G (p.Glu2271=)
c.5811A>G (p.Glu1937=)
c.259A>G
c.7012A>G (n.7012A>G)
c.64+880A>G
n.290A>G
c.6867A>G (p.Glu2289=)
c.6843A>G (p.Glu2281=)
c.6903A>G (p.Glu2301=)
17g.31338760A>TCA399014364NF1c.6858A>T (p.Glu2286Asp)
c.1440A>T (p.Glu480Asp)
n.2698A>T
c.1032A>T (p.Glu344Asp)
n.3521A>T
c.6906A>T (p.Glu2302Asp)
c.6876A>T (p.Glu2292Asp)
c.6813A>T (p.Glu2271Asp)
c.5811A>T (p.Glu1937Asp)
c.259A>T
c.7012A>T (n.7012A>T)
c.64+880A>T
n.290A>T
c.6867A>T (p.Glu2289Asp)
c.6843A>T (p.Glu2281Asp)
c.6903A>T (p.Glu2301Asp)
 dbSNP
17g.31338761_31338764delCA2697559627NF1c.6859_6862del (p.Ala2287GlnfsTer2)
c.1441_1444del (p.Ala481GlnfsTer2)
n.2699_2702del
c.1033_1036del (p.Ala345GlnfsTer2)
n.3522_3525del
c.6907_6910del (p.Ala2303GlnfsTer2)
c.6877_6880del (p.Ala2293GlnfsTer2)
c.6814_6817del (p.Ala2272GlnfsTer2)
c.5812_5815del (p.Ala1938GlnfsTer2)
c.260_263del
c.7013_7016del (n.7013_7016del)
c.64+881_64+884del
n.291_294del
c.6868_6871del (p.Ala2290GlnfsTer2)
c.6844_6847del (p.Ala2282GlnfsTer2)
c.6904_6907del (p.Ala2302GlnfsTer2)
 ClinVar
17g.31338761G>ACA399014367NF1c.6859G>A (p.Ala2287Thr)
c.1441G>A (p.Ala481Thr)
n.2699G>A
c.1033G>A (p.Ala345Thr)
n.3522G>A
c.6907G>A (p.Ala2303Thr)
c.6877G>A (p.Ala2293Thr)
c.6814G>A (p.Ala2272Thr)
c.5812G>A (p.Ala1938Thr)
c.260G>A
c.7013G>A (n.7013G>A)
c.64+881G>A
n.291G>A
c.6868G>A (p.Ala2290Thr)
c.6844G>A (p.Ala2282Thr)
c.6904G>A (p.Ala2302Thr)
 dbSNP
17g.31338761G>CCA399014366NF1c.6859G>C (p.Ala2287Pro)
c.1441G>C (p.Ala481Pro)
n.2699G>C
c.1033G>C (p.Ala345Pro)
n.3522G>C
c.6907G>C (p.Ala2303Pro)
c.6877G>C (p.Ala2293Pro)
c.6814G>C (p.Ala2272Pro)
c.5812G>C (p.Ala1938Pro)
c.260G>C
c.7013G>C (n.7013G>C)
c.64+881G>C
n.291G>C
c.6868G>C (p.Ala2290Pro)
c.6844G>C (p.Ala2282Pro)
c.6904G>C (p.Ala2302Pro)
 dbSNP
17g.31338761G>TCA399014365NF1c.6859G>T (p.Ala2287Ser)
c.1441G>T (p.Ala481Ser)
n.2699G>T
c.1033G>T (p.Ala345Ser)
n.3522G>T
c.6907G>T (p.Ala2303Ser)
c.6877G>T (p.Ala2293Ser)
c.6814G>T (p.Ala2272Ser)
c.5812G>T (p.Ala1938Ser)
c.260G>T
c.7013G>T (n.7013G>T)
c.64+881G>T
n.291G>T
c.6868G>T (p.Ala2290Ser)
c.6844G>T (p.Ala2282Ser)
c.6904G>T (p.Ala2302Ser)
17g.31338761_31338762delinsAGCA2739267436NF1c.6859_6860delinsAG (p.Ala2287Ser)
c.1441_1442delinsAG (p.Ala481Ser)
n.2699_2700delinsAG
c.1033_1034delinsAG (p.Ala345Ser)
n.3522_3523delinsAG
c.6907_6908delinsAG (p.Ala2303Ser)
c.6877_6878delinsAG (p.Ala2293Ser)
c.6814_6815delinsAG (p.Ala2272Ser)
c.5812_5813delinsAG (p.Ala1938Ser)
c.260_261delinsAG
c.7013_7014delinsAG (n.7013_7014delinsAG)
c.64+881_64+882delinsAG
n.291_292delinsAG
c.6868_6869delinsAG (p.Ala2290Ser)
c.6844_6845delinsAG (p.Ala2282Ser)
c.6904_6905delinsAG (p.Ala2302Ser)
 ClinVar
17g.31338761_31338762delinsGCCA2255603145NF1c.6859_6860delinsGC (p.Ala2287=)
c.1441_1442delinsGC (p.Ala481=)
n.2699_2700delinsGC
c.1033_1034delinsGC (p.Ala345=)
n.3522_3523delinsGC
c.6907_6908delinsGC (p.Ala2303=)
c.6877_6878delinsGC (p.Ala2293=)
c.6814_6815delinsGC (p.Ala2272=)
c.5812_5813delinsGC (p.Ala1938=)
c.260_261delinsGC
c.7013_7014delinsGC (n.7013_7014delinsGC)
c.64+881_64+882delinsGC
n.291_292delinsGC
c.6868_6869delinsGC (p.Ala2290=)
c.6844_6845delinsGC (p.Ala2282=)
c.6904_6905delinsGC (p.Ala2302=)
17g.31338762delCA645372614NF1c.6860del (p.Ala2287ValfsTer3)
c.1442del (p.Ala481ValfsTer3)
n.2700del
c.1034del (p.Ala345ValfsTer3)
n.3523del
c.6908del (p.Ala2303ValfsTer3)
c.6878del (p.Ala2293ValfsTer3)
c.6815del (p.Ala2272ValfsTer3)
c.5813del (p.Ala1938ValfsTer3)
c.261del
c.7014del (n.7014del)
c.64+882del
n.292del
c.6869del (p.Ala2290ValfsTer3)
c.6845del (p.Ala2282ValfsTer3)
c.6905del (p.Ala2302ValfsTer3)
 ClinVar dbSNP
17g.31338762C>ACA399014368NF1c.6860C>A (p.Ala2287Asp)
c.1442C>A (p.Ala481Asp)
n.2700C>A
c.1034C>A (p.Ala345Asp)
n.3523C>A
c.6908C>A (p.Ala2303Asp)
c.6878C>A (p.Ala2293Asp)
c.6815C>A (p.Ala2272Asp)
c.5813C>A (p.Ala1938Asp)
c.261C>A
c.7014C>A (n.7014C>A)
c.64+882C>A
n.292C>A
c.6869C>A (p.Ala2290Asp)
c.6845C>A (p.Ala2282Asp)
c.6905C>A (p.Ala2302Asp)
 dbSNP
17g.31338762C>GCA399014369NF1c.6860C>G (p.Ala2287Gly)
c.1442C>G (p.Ala481Gly)
n.2700C>G
c.1034C>G (p.Ala345Gly)
n.3523C>G
c.6908C>G (p.Ala2303Gly)
c.6878C>G (p.Ala2293Gly)
c.6815C>G (p.Ala2272Gly)
c.5813C>G (p.Ala1938Gly)
c.261C>G
c.7014C>G (n.7014C>G)
c.64+882C>G
n.292C>G
c.6869C>G (p.Ala2290Gly)
c.6845C>G (p.Ala2282Gly)
c.6905C>G (p.Ala2302Gly)
 dbSNP
17g.31338762C>TCA399014370NF1c.6860C>T (p.Ala2287Val)
c.1442C>T (p.Ala481Val)
n.2700C>T
c.1034C>T (p.Ala345Val)
n.3523C>T
c.6908C>T (p.Ala2303Val)
c.6878C>T (p.Ala2293Val)
c.6815C>T (p.Ala2272Val)
c.5813C>T (p.Ala1938Val)
c.261C>T
c.7014C>T (n.7014C>T)
c.64+882C>T
n.292C>T
c.6869C>T (p.Ala2290Val)
c.6845C>T (p.Ala2282Val)
c.6905C>T (p.Ala2302Val)
 dbSNP
17g.31338762_31338763dupCA2697559628NF1c.6860_6861dup (p.Thr2288LeufsTer3)
c.1442_1443dup (p.Thr482LeufsTer3)
n.2700_2701dup
c.1034_1035dup (p.Thr346LeufsTer3)
n.3523_3524dup
c.6908_6909dup (p.Thr2304LeufsTer3)
c.6878_6879dup (p.Thr2294LeufsTer3)
c.6815_6816dup (p.Thr2273LeufsTer3)
c.5813_5814dup (p.Thr1939LeufsTer3)
c.261_262dup
c.7014_7015dup (n.7014_7015dup)
c.64+882_64+883dup
n.292_293dup
c.6869_6870dup (p.Thr2291LeufsTer3)
c.6845_6846dup (p.Thr2283LeufsTer3)
c.6905_6906dup (p.Thr2303LeufsTer3)
 ClinVar
17g.31338763T>ACA499234352NF1c.6861T>A (p.Ala2287=)
c.1443T>A (p.Ala481=)
n.2701T>A
c.1035T>A (p.Ala345=)
n.3524T>A
c.6909T>A (p.Ala2303=)
c.6879T>A (p.Ala2293=)
c.6816T>A (p.Ala2272=)
c.5814T>A (p.Ala1938=)
c.262T>A
c.7015T>A (n.7015T>A)
c.64+883T>A
n.293T>A
c.6870T>A (p.Ala2290=)
c.6846T>A (p.Ala2282=)
c.6906T>A (p.Ala2302=)
 dbSNP
17g.31338763T>CCA8487444NF1c.6861T>C (p.Ala2287=)
c.1443T>C (p.Ala481=)
n.2701T>C
c.1035T>C (p.Ala345=)
n.3524T>C
c.6909T>C (p.Ala2303=)
c.6879T>C (p.Ala2293=)
c.6816T>C (p.Ala2272=)
c.5814T>C (p.Ala1938=)
c.262T>C
c.7015T>C (n.7015T>C)
c.64+883T>C
n.293T>C
c.6870T>C (p.Ala2290=)
c.6846T>C (p.Ala2282=)
c.6906T>C (p.Ala2302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338763T>GCA499234353NF1c.6861T>G (p.Ala2287=)
c.1443T>G (p.Ala481=)
n.2701T>G
c.1035T>G (p.Ala345=)
n.3524T>G
c.6909T>G (p.Ala2303=)
c.6879T>G (p.Ala2293=)
c.6816T>G (p.Ala2272=)
c.5814T>G (p.Ala1938=)
c.262T>G
c.7015T>G (n.7015T>G)
c.64+883T>G
n.293T>G
c.6870T>G (p.Ala2290=)
c.6846T>G (p.Ala2282=)
c.6906T>G (p.Ala2302=)
17g.31338763T=CA2255603146NF1c.6861T= (p.Ala2287=)
c.1443T= (p.Ala481=)
n.2701T=
c.1035T= (p.Ala345=)
n.3524T=
c.6909T= (p.Ala2303=)
c.6879T= (p.Ala2293=)
c.6816T= (p.Ala2272=)
c.5814T= (p.Ala1938=)
c.262T=
c.7015T= (n.7015T=)
c.64+883T=
n.293T=
c.6870T= (p.Ala2290=)
c.6846T= (p.Ala2282=)
c.6906T= (p.Ala2302=)
17g.31338764A>CCA399014371NF1c.6862A>C (p.Thr2288Pro)
c.1444A>C (p.Thr482Pro)
n.2702A>C
c.1036A>C (p.Thr346Pro)
n.3525A>C
c.6910A>C (p.Thr2304Pro)
c.6880A>C (p.Thr2294Pro)
c.6817A>C (p.Thr2273Pro)
c.5815A>C (p.Thr1939Pro)
c.263A>C
c.7016A>C (n.7016A>C)
c.64+884A>C
n.294A>C
c.6871A>C (p.Thr2291Pro)
c.6847A>C (p.Thr2283Pro)
c.6907A>C (p.Thr2303Pro)
17g.31338764A>GCA399014372NF1c.6862A>G (p.Thr2288Ala)
c.1444A>G (p.Thr482Ala)
n.2702A>G
c.1036A>G (p.Thr346Ala)
n.3525A>G
c.6910A>G (p.Thr2304Ala)
c.6880A>G (p.Thr2294Ala)
c.6817A>G (p.Thr2273Ala)
c.5815A>G (p.Thr1939Ala)
c.263A>G
c.7016A>G (n.7016A>G)
c.64+884A>G
n.294A>G
c.6871A>G (p.Thr2291Ala)
c.6847A>G (p.Thr2283Ala)
c.6907A>G (p.Thr2303Ala)
 gnomAD v4
17g.31338764A>TCA399014373NF1c.6862A>T (p.Thr2288Ser)
c.1444A>T (p.Thr482Ser)
n.2702A>T
c.1036A>T (p.Thr346Ser)
n.3525A>T
c.6910A>T (p.Thr2304Ser)
c.6880A>T (p.Thr2294Ser)
c.6817A>T (p.Thr2273Ser)
c.5815A>T (p.Thr1939Ser)
c.263A>T
c.7016A>T (n.7016A>T)
c.64+884A>T
n.294A>T
c.6871A>T (p.Thr2291Ser)
c.6847A>T (p.Thr2283Ser)
c.6907A>T (p.Thr2303Ser)
 dbSNP
17g.31338764_31338790delCA2573153878NF1c.6862_6888del (p.Thr2288_Gln2296del)
c.1444_1470del (p.Thr482_Gln490del)
n.2702_2728del
c.1036_1062del (p.Thr346_Gln354del)
n.3525_3551del
c.6910_6936del (p.Thr2304_Gln2312del)
c.6880_6906del (p.Thr2294_Gln2302del)
c.6817_6843del (p.Thr2273_Gln2281del)
c.5815_5841del (p.Thr1939_Gln1947del)
c.263_289del
c.7016_7042del (n.7016_7042del)
c.64+884_64+910del
n.294_320del
c.6871_6897del (p.Thr2291_Gln2299del)
c.6847_6873del (p.Thr2283_Gln2291del)
c.6907_6933del (p.Thr2303_Gln2311del)
 ClinVar dbSNP
17g.31338765C>ACA399014374NF1c.6863C>A (p.Thr2288Lys)
c.1445C>A (p.Thr482Lys)
n.2703C>A
c.1037C>A (p.Thr346Lys)
n.3526C>A
c.6911C>A (p.Thr2304Lys)
c.6881C>A (p.Thr2294Lys)
c.6818C>A (p.Thr2273Lys)
c.5816C>A (p.Thr1939Lys)
c.264C>A
c.7017C>A (n.7017C>A)
c.64+885C>A
n.295C>A
c.6872C>A (p.Thr2291Lys)
c.6848C>A (p.Thr2283Lys)
c.6908C>A (p.Thr2303Lys)
17g.31338765C=CA2255603147NF1c.6863C= (p.Thr2288=)
c.1445C= (p.Thr482=)
n.2703C=
c.1037C= (p.Thr346=)
n.3526C=
c.6911C= (p.Thr2304=)
c.6881C= (p.Thr2294=)
c.6818C= (p.Thr2273=)
c.5816C= (p.Thr1939=)
c.264C=
c.7017C= (n.7017C=)
c.64+885C=
n.295C=
c.6872C= (p.Thr2291=)
c.6848C= (p.Thr2283=)
c.6908C= (p.Thr2303=)
17g.31338765C>GCA399014375NF1c.6863C>G (p.Thr2288Arg)
c.1445C>G (p.Thr482Arg)
n.2703C>G
c.1037C>G (p.Thr346Arg)
n.3526C>G
c.6911C>G (p.Thr2304Arg)
c.6881C>G (p.Thr2294Arg)
c.6818C>G (p.Thr2273Arg)
c.5816C>G (p.Thr1939Arg)
c.264C>G
c.7017C>G (n.7017C>G)
c.64+885C>G
n.295C>G
c.6872C>G (p.Thr2291Arg)
c.6848C>G (p.Thr2283Arg)
c.6908C>G (p.Thr2303Arg)
 dbSNP
17g.31338765C>TCA190906NF1c.6863C>T (p.Thr2288Ile)
c.1445C>T (p.Thr482Ile)
n.2703C>T
c.1037C>T (p.Thr346Ile)
n.3526C>T
c.6911C>T (p.Thr2304Ile)
c.6881C>T (p.Thr2294Ile)
c.6818C>T (p.Thr2273Ile)
c.5816C>T (p.Thr1939Ile)
c.264C>T
c.7017C>T (n.7017C>T)
c.64+885C>T
n.295C>T
c.6872C>T (p.Thr2291Ile)
c.6848C>T (p.Thr2283Ile)
c.6908C>T (p.Thr2303Ile)
 ClinVar dbSNP gnomAD v4
17g.31338767_31338782delCA2573153879NF1c.6865_6880del (p.Val2289AsnfsTer19)
c.1447_1462del (p.Val483AsnfsTer19)
n.2705_2720del
c.1039_1054del (p.Val347AsnfsTer19)
n.3528_3543del
c.6913_6928del (p.Val2305AsnfsTer19)
c.6883_6898del (p.Val2295AsnfsTer19)
c.6820_6835del (p.Val2274AsnfsTer19)
c.5818_5833del (p.Val1940AsnfsTer19)
c.266_281del
c.7019_7034del (n.7019_7034del)
c.64+887_64+902del
n.297_312del
c.6874_6889del (p.Val2292AsnfsTer19)
c.6850_6865del (p.Val2284AsnfsTer19)
c.6910_6925del (p.Val2304AsnfsTer19)
 ClinVar dbSNP
17g.31338766A=CA2255603148NF1c.6864A= (p.Thr2288=)
c.1446A= (p.Thr482=)
n.2704A=
c.1038A= (p.Thr346=)
n.3527A=
c.6912A= (p.Thr2304=)
c.6882A= (p.Thr2294=)
c.6819A= (p.Thr2273=)
c.5817A= (p.Thr1939=)
c.265A=
c.7018A= (n.7018A=)
c.64+886A=
n.296A=
c.6873A= (p.Thr2291=)
c.6849A= (p.Thr2283=)
c.6909A= (p.Thr2303=)
17g.31338766A>CCA499234355NF1c.6864A>C (p.Thr2288=)
c.1446A>C (p.Thr482=)
n.2704A>C
c.1038A>C (p.Thr346=)
n.3527A>C
c.6912A>C (p.Thr2304=)
c.6882A>C (p.Thr2294=)
c.6819A>C (p.Thr2273=)
c.5817A>C (p.Thr1939=)
c.265A>C
c.7018A>C (n.7018A>C)
c.64+886A>C
n.296A>C
c.6873A>C (p.Thr2291=)
c.6849A>C (p.Thr2283=)
c.6909A>C (p.Thr2303=)
17g.31338766A>GCA8487445NF1c.6864A>G (p.Thr2288=)
c.1446A>G (p.Thr482=)
n.2704A>G
c.1038A>G (p.Thr346=)
n.3527A>G
c.6912A>G (p.Thr2304=)
c.6882A>G (p.Thr2294=)
c.6819A>G (p.Thr2273=)
c.5817A>G (p.Thr1939=)
c.265A>G
c.7018A>G (n.7018A>G)
c.64+886A>G
n.296A>G
c.6873A>G (p.Thr2291=)
c.6849A>G (p.Thr2283=)
c.6909A>G (p.Thr2303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338766A>TCA499234354NF1c.6864A>T (p.Thr2288=)
c.1446A>T (p.Thr482=)
n.2704A>T
c.1038A>T (p.Thr346=)
n.3527A>T
c.6912A>T (p.Thr2304=)
c.6882A>T (p.Thr2294=)
c.6819A>T (p.Thr2273=)
c.5817A>T (p.Thr1939=)
c.265A>T
c.7018A>T (n.7018A>T)
c.64+886A>T
n.296A>T
c.6873A>T (p.Thr2291=)
c.6849A>T (p.Thr2283=)
c.6909A>T (p.Thr2303=)
17g.31338767G>ACA399014376NF1c.6865G>A (p.Val2289Ile)
c.1447G>A (p.Val483Ile)
n.2705G>A
c.1039G>A (p.Val347Ile)
n.3528G>A
c.6913G>A (p.Val2305Ile)
c.6883G>A (p.Val2295Ile)
c.6820G>A (p.Val2274Ile)
c.5818G>A (p.Val1940Ile)
c.266G>A
c.7019G>A (n.7019G>A)
c.64+887G>A
n.297G>A
c.6874G>A (p.Val2292Ile)
c.6850G>A (p.Val2284Ile)
c.6910G>A (p.Val2304Ile)
 dbSNP
17g.31338767G>CCA399014377NF1c.6865G>C (p.Val2289Leu)
c.1447G>C (p.Val483Leu)
n.2705G>C
c.1039G>C (p.Val347Leu)
n.3528G>C
c.6913G>C (p.Val2305Leu)
c.6883G>C (p.Val2295Leu)
c.6820G>C (p.Val2274Leu)
c.5818G>C (p.Val1940Leu)
c.266G>C
c.7019G>C (n.7019G>C)
c.64+887G>C
n.297G>C
c.6874G>C (p.Val2292Leu)
c.6850G>C (p.Val2284Leu)
c.6910G>C (p.Val2304Leu)
 dbSNP
17g.31338767G>TCA399014378NF1c.6865G>T (p.Val2289Leu)
c.1447G>T (p.Val483Leu)
n.2705G>T
c.1039G>T (p.Val347Leu)
n.3528G>T
c.6913G>T (p.Val2305Leu)
c.6883G>T (p.Val2295Leu)
c.6820G>T (p.Val2274Leu)
c.5818G>T (p.Val1940Leu)
c.266G>T
c.7019G>T (n.7019G>T)
c.64+887G>T
n.297G>T
c.6874G>T (p.Val2292Leu)
c.6850G>T (p.Val2284Leu)
c.6910G>T (p.Val2304Leu)
 ClinVar dbSNP
17g.31338767_31338785delinsGTAATAGCACTAACCAAATCA2255603149NF1c.6865_6883delinsGTAATAGCACTAACCAAAT (p.Val2289=)
c.1447_1465delinsGTAATAGCACTAACCAAAT (p.Val483=)
n.2705_2723delinsGTAATAGCACTAACCAAAT
c.1039_1057delinsGTAATAGCACTAACCAAAT (p.Val347=)
n.3528_3546delinsGTAATAGCACTAACCAAAT
c.6913_6931delinsGTAATAGCACTAACCAAAT (p.Val2305=)
c.6883_6901delinsGTAATAGCACTAACCAAAT (p.Val2295=)
c.6820_6838delinsGTAATAGCACTAACCAAAT (p.Val2274=)
c.5818_5836delinsGTAATAGCACTAACCAAAT (p.Val1940=)
c.266_284delinsGTAATAGCACTAACCAAAT
c.7019_7037delinsGTAATAGCACTAACCAAAT (n.7019_7037delinsGTAATAGCACTAACCAAAT)
c.64+887_64+905delinsGTAATAGCACTAACCAAAT
n.297_315delinsGTAATAGCACTAACCAAAT
c.6874_6892delinsGTAATAGCACTAACCAAAT (p.Val2292=)
c.6850_6868delinsGTAATAGCACTAACCAAAT (p.Val2284=)
c.6910_6928delinsGTAATAGCACTAACCAAAT (p.Val2304=)
17g.31338768T>ACA399014379NF1c.6866T>A (p.Val2289Glu)
c.1448T>A (p.Val483Glu)
n.2706T>A
c.1040T>A (p.Val347Glu)
n.3529T>A
c.6914T>A (p.Val2305Glu)
c.6884T>A (p.Val2295Glu)
c.6821T>A (p.Val2274Glu)
c.5819T>A (p.Val1940Glu)
c.267T>A
c.7020T>A (n.7020T>A)
c.64+888T>A
n.298T>A
c.6875T>A (p.Val2292Glu)
c.6851T>A (p.Val2284Glu)
c.6911T>A (p.Val2304Glu)
17g.31338768T>CCA399014381NF1c.6866T>C (p.Val2289Ala)
c.1448T>C (p.Val483Ala)
n.2706T>C
c.1040T>C (p.Val347Ala)
n.3529T>C
c.6914T>C (p.Val2305Ala)
c.6884T>C (p.Val2295Ala)
c.6821T>C (p.Val2274Ala)
c.5819T>C (p.Val1940Ala)
c.267T>C
c.7020T>C (n.7020T>C)
c.64+888T>C
n.298T>C
c.6875T>C (p.Val2292Ala)
c.6851T>C (p.Val2284Ala)
c.6911T>C (p.Val2304Ala)
17g.31338768T>GCA399014380NF1c.6866T>G (p.Val2289Gly)
c.1448T>G (p.Val483Gly)
n.2706T>G
c.1040T>G (p.Val347Gly)
n.3529T>G
c.6914T>G (p.Val2305Gly)
c.6884T>G (p.Val2295Gly)
c.6821T>G (p.Val2274Gly)
c.5819T>G (p.Val1940Gly)
c.267T>G
c.7020T>G (n.7020T>G)
c.64+888T>G
n.298T>G
c.6875T>G (p.Val2292Gly)
c.6851T>G (p.Val2284Gly)
c.6911T>G (p.Val2304Gly)
17g.31338770_31338787delCA2255603150NF1c.6868_6885del (p.Ile2290_Leu2295del)
c.1450_1467del (p.Ile484_Leu489del)
n.2708_2725del
c.1042_1059del (p.Ile348_Leu353del)
n.3531_3548del
c.6916_6933del (p.Ile2306_Leu2311del)
c.6886_6903del (p.Ile2296_Leu2301del)
c.6823_6840del (p.Ile2275_Leu2280del)
c.5821_5838del (p.Ile1941_Leu1946del)
c.269_286del
c.7022_7039del (n.7022_7039del)
c.64+890_64+907del
n.300_317del
c.6877_6894del (p.Ile2293_Leu2298del)
c.6853_6870del (p.Ile2285_Leu2290del)
c.6913_6930del (p.Ile2305_Leu2310del)
 ClinVar dbSNP
17g.31338769A>CCA499234356NF1c.6867A>C (p.Val2289=)
c.1449A>C (p.Val483=)
n.2707A>C
c.1041A>C (p.Val347=)
n.3530A>C
c.6915A>C (p.Val2305=)
c.6885A>C (p.Val2295=)
c.6822A>C (p.Val2274=)
c.5820A>C (p.Val1940=)
c.268A>C
c.7021A>C (n.7021A>C)
c.64+889A>C
n.299A>C
c.6876A>C (p.Val2292=)
c.6852A>C (p.Val2284=)
c.6912A>C (p.Val2304=)
17g.31338769A>GCA499234357NF1c.6867A>G (p.Val2289=)
c.1449A>G (p.Val483=)
n.2707A>G
c.1041A>G (p.Val347=)
n.3530A>G
c.6915A>G (p.Val2305=)
c.6885A>G (p.Val2295=)
c.6822A>G (p.Val2274=)
c.5820A>G (p.Val1940=)
c.268A>G
c.7021A>G (n.7021A>G)
c.64+889A>G
n.299A>G
c.6876A>G (p.Val2292=)
c.6852A>G (p.Val2284=)
c.6912A>G (p.Val2304=)
 ClinVar gnomAD v4
17g.31338769A>TCA499234358NF1c.6867A>T (p.Val2289=)
c.1449A>T (p.Val483=)
n.2707A>T
c.1041A>T (p.Val347=)
n.3530A>T
c.6915A>T (p.Val2305=)
c.6885A>T (p.Val2295=)
c.6822A>T (p.Val2274=)
c.5820A>T (p.Val1940=)
c.268A>T
c.7021A>T (n.7021A>T)
c.64+889A>T
n.299A>T
c.6876A>T (p.Val2292=)
c.6852A>T (p.Val2284=)
c.6912A>T (p.Val2304=)
 dbSNP
17g.31338770dupCA2697559629NF1c.6868dup (p.Ile2290AsnfsTer11)
c.1450dup (p.Ile484AsnfsTer11)
n.2708dup
c.1042dup (p.Ile348AsnfsTer11)
n.3531dup
c.6916dup (p.Ile2306AsnfsTer11)
c.6886dup (p.Ile2296AsnfsTer11)
c.6823dup (p.Ile2275AsnfsTer11)
c.5821dup (p.Ile1941AsnfsTer11)
c.269dup
c.7022dup (n.7022dup)
c.64+890dup
n.300dup
c.6877dup (p.Ile2293AsnfsTer11)
c.6853dup (p.Ile2285AsnfsTer11)
c.6913dup (p.Ile2305AsnfsTer11)
 ClinVar
17g.31338770A>CCA399014382NF1c.6868A>C (p.Ile2290Leu)
c.1450A>C (p.Ile484Leu)
n.2708A>C
c.1042A>C (p.Ile348Leu)
n.3531A>C
c.6916A>C (p.Ile2306Leu)
c.6886A>C (p.Ile2296Leu)
c.6823A>C (p.Ile2275Leu)
c.5821A>C (p.Ile1941Leu)
c.269A>C
c.7022A>C (n.7022A>C)
c.64+890A>C
n.300A>C
c.6877A>C (p.Ile2293Leu)
c.6853A>C (p.Ile2285Leu)
c.6913A>C (p.Ile2305Leu)
17g.31338770A>GCA399014383NF1c.6868A>G (p.Ile2290Val)
c.1450A>G (p.Ile484Val)
n.2708A>G
c.1042A>G (p.Ile348Val)
n.3531A>G
c.6916A>G (p.Ile2306Val)
c.6886A>G (p.Ile2296Val)
c.6823A>G (p.Ile2275Val)
c.5821A>G (p.Ile1941Val)
c.269A>G
c.7022A>G (n.7022A>G)
c.64+890A>G
n.300A>G
c.6877A>G (p.Ile2293Val)
c.6853A>G (p.Ile2285Val)
c.6913A>G (p.Ile2305Val)
17g.31338770A>TCA399014384NF1c.6868A>T (p.Ile2290Leu)
c.1450A>T (p.Ile484Leu)
n.2708A>T
c.1042A>T (p.Ile348Leu)
n.3531A>T
c.6916A>T (p.Ile2306Leu)
c.6886A>T (p.Ile2296Leu)
c.6823A>T (p.Ile2275Leu)
c.5821A>T (p.Ile1941Leu)
c.269A>T
c.7022A>T (n.7022A>T)
c.64+890A>T
n.300A>T
c.6877A>T (p.Ile2293Leu)
c.6853A>T (p.Ile2285Leu)
c.6913A>T (p.Ile2305Leu)
17g.31338771T>ACA399014385NF1c.6869T>A (p.Ile2290Lys)
c.1451T>A (p.Ile484Lys)
n.2709T>A
c.1043T>A (p.Ile348Lys)
n.3532T>A
c.6917T>A (p.Ile2306Lys)
c.6887T>A (p.Ile2296Lys)
c.6824T>A (p.Ile2275Lys)
c.5822T>A (p.Ile1941Lys)
c.270T>A
c.7023T>A (n.7023T>A)
c.64+891T>A
n.301T>A
c.6878T>A (p.Ile2293Lys)
c.6854T>A (p.Ile2285Lys)
c.6914T>A (p.Ile2305Lys)
 dbSNP
17g.31338771T>CCA399014386NF1c.6869T>C (p.Ile2290Thr)
c.1451T>C (p.Ile484Thr)
n.2709T>C
c.1043T>C (p.Ile348Thr)
n.3532T>C
c.6917T>C (p.Ile2306Thr)
c.6887T>C (p.Ile2296Thr)
c.6824T>C (p.Ile2275Thr)
c.5822T>C (p.Ile1941Thr)
c.270T>C
c.7023T>C (n.7023T>C)
c.64+891T>C
n.301T>C
c.6878T>C (p.Ile2293Thr)
c.6854T>C (p.Ile2285Thr)
c.6914T>C (p.Ile2305Thr)
 ClinVar dbSNP gnomAD v4
17g.31338771T>GCA399014387NF1c.6869T>G (p.Ile2290Arg)
c.1451T>G (p.Ile484Arg)
n.2709T>G
c.1043T>G (p.Ile348Arg)
n.3532T>G
c.6917T>G (p.Ile2306Arg)
c.6887T>G (p.Ile2296Arg)
c.6824T>G (p.Ile2275Arg)
c.5822T>G (p.Ile1941Arg)
c.270T>G
c.7023T>G (n.7023T>G)
c.64+891T>G
n.301T>G
c.6878T>G (p.Ile2293Arg)
c.6854T>G (p.Ile2285Arg)
c.6914T>G (p.Ile2305Arg)
17g.31338771T=CA2255603151NF1c.6869T= (p.Ile2290=)
c.1451T= (p.Ile484=)
n.2709T=
c.1043T= (p.Ile348=)
n.3532T=
c.6917T= (p.Ile2306=)
c.6887T= (p.Ile2296=)
c.6824T= (p.Ile2275=)
c.5822T= (p.Ile1941=)
c.270T=
c.7023T= (n.7023T=)
c.64+891T=
n.301T=
c.6878T= (p.Ile2293=)
c.6854T= (p.Ile2285=)
c.6914T= (p.Ile2305=)
17g.31338772A>CCA499234359NF1c.6870A>C (p.Ile2290=)
c.1452A>C (p.Ile484=)
n.2710A>C
c.1044A>C (p.Ile348=)
n.3533A>C
c.6918A>C (p.Ile2306=)
c.6888A>C (p.Ile2296=)
c.6825A>C (p.Ile2275=)
c.5823A>C (p.Ile1941=)
c.271A>C
c.7024A>C (n.7024A>C)
c.64+892A>C
n.302A>C
c.6879A>C (p.Ile2293=)
c.6855A>C (p.Ile2285=)
c.6915A>C (p.Ile2305=)
17g.31338772A>GCA399014388NF1c.6870A>G (p.Ile2290Met)
c.1452A>G (p.Ile484Met)
n.2710A>G
c.1044A>G (p.Ile348Met)
n.3533A>G
c.6918A>G (p.Ile2306Met)
c.6888A>G (p.Ile2296Met)
c.6825A>G (p.Ile2275Met)
c.5823A>G (p.Ile1941Met)
c.271A>G
c.7024A>G (n.7024A>G)
c.64+892A>G
n.302A>G
c.6879A>G (p.Ile2293Met)
c.6855A>G (p.Ile2285Met)
c.6915A>G (p.Ile2305Met)
 dbSNP
17g.31338772A>TCA499234360NF1c.6870A>T (p.Ile2290=)
c.1452A>T (p.Ile484=)
n.2710A>T
c.1044A>T (p.Ile348=)
n.3533A>T
c.6918A>T (p.Ile2306=)
c.6888A>T (p.Ile2296=)
c.6825A>T (p.Ile2275=)
c.5823A>T (p.Ile1941=)
c.271A>T
c.7024A>T (n.7024A>T)
c.64+892A>T
n.302A>T
c.6879A>T (p.Ile2293=)
c.6855A>T (p.Ile2285=)
c.6915A>T (p.Ile2305=)
17g.31338773G>ACA399014389NF1c.6871G>A (p.Ala2291Thr)
c.1453G>A (p.Ala485Thr)
n.2711G>A
c.1045G>A (p.Ala349Thr)
n.3534G>A
c.6919G>A (p.Ala2307Thr)
c.6889G>A (p.Ala2297Thr)
c.6826G>A (p.Ala2276Thr)
c.5824G>A (p.Ala1942Thr)
c.272G>A
c.7025G>A (n.7025G>A)
c.64+893G>A
n.303G>A
c.6880G>A (p.Ala2294Thr)
c.6856G>A (p.Ala2286Thr)
c.6916G>A (p.Ala2306Thr)
 ClinVar dbSNP
17g.31338773G>CCA399014390NF1c.6871G>C (p.Ala2291Pro)
c.1453G>C (p.Ala485Pro)
n.2711G>C
c.1045G>C (p.Ala349Pro)
n.3534G>C
c.6919G>C (p.Ala2307Pro)
c.6889G>C (p.Ala2297Pro)
c.6826G>C (p.Ala2276Pro)
c.5824G>C (p.Ala1942Pro)
c.272G>C
c.7025G>C (n.7025G>C)
c.64+893G>C
n.303G>C
c.6880G>C (p.Ala2294Pro)
c.6856G>C (p.Ala2286Pro)
c.6916G>C (p.Ala2306Pro)
 dbSNP
17g.31338773G>TCA399014391NF1c.6871G>T (p.Ala2291Ser)
c.1453G>T (p.Ala485Ser)
n.2711G>T
c.1045G>T (p.Ala349Ser)
n.3534G>T
c.6919G>T (p.Ala2307Ser)
c.6889G>T (p.Ala2297Ser)
c.6826G>T (p.Ala2276Ser)
c.5824G>T (p.Ala1942Ser)
c.272G>T
c.7025G>T (n.7025G>T)
c.64+893G>T
n.303G>T
c.6880G>T (p.Ala2294Ser)
c.6856G>T (p.Ala2286Ser)
c.6916G>T (p.Ala2306Ser)
 dbSNP COSMIC COSMIC COSMIC
17g.31338774C>ACA399014394NF1c.6872C>A (p.Ala2291Glu)
c.1454C>A (p.Ala485Glu)
n.2712C>A
c.1046C>A (p.Ala349Glu)
n.3535C>A
c.6920C>A (p.Ala2307Glu)
c.6890C>A (p.Ala2297Glu)
c.6827C>A (p.Ala2276Glu)
c.5825C>A (p.Ala1942Glu)
c.273C>A
c.7026C>A (n.7026C>A)
c.64+894C>A
n.304C>A
c.6881C>A (p.Ala2294Glu)
c.6857C>A (p.Ala2286Glu)
c.6917C>A (p.Ala2306Glu)
 dbSNP
17g.31338774C=CA2255603152NF1c.6872C= (p.Ala2291=)
c.1454C= (p.Ala485=)
n.2712C=
c.1046C= (p.Ala349=)
n.3535C=
c.6920C= (p.Ala2307=)
c.6890C= (p.Ala2297=)
c.6827C= (p.Ala2276=)
c.5825C= (p.Ala1942=)
c.273C=
c.7026C= (n.7026C=)
c.64+894C=
n.304C=
c.6881C= (p.Ala2294=)
c.6857C= (p.Ala2286=)
c.6917C= (p.Ala2306=)
17g.31338774C>GCA399014393NF1c.6872C>G (p.Ala2291Gly)
c.1454C>G (p.Ala485Gly)
n.2712C>G
c.1046C>G (p.Ala349Gly)
n.3535C>G
c.6920C>G (p.Ala2307Gly)
c.6890C>G (p.Ala2297Gly)
c.6827C>G (p.Ala2276Gly)
c.5825C>G (p.Ala1942Gly)
c.273C>G
c.7026C>G (n.7026C>G)
c.64+894C>G
n.304C>G
c.6881C>G (p.Ala2294Gly)
c.6857C>G (p.Ala2286Gly)
c.6917C>G (p.Ala2306Gly)
 ClinVar dbSNP
17g.31338774C>TCA399014392NF1c.6872C>T (p.Ala2291Val)
c.1454C>T (p.Ala485Val)
n.2712C>T
c.1046C>T (p.Ala349Val)
n.3535C>T
c.6920C>T (p.Ala2307Val)
c.6890C>T (p.Ala2297Val)
c.6827C>T (p.Ala2276Val)
c.5825C>T (p.Ala1942Val)
c.273C>T
c.7026C>T (n.7026C>T)
c.64+894C>T
n.304C>T
c.6881C>T (p.Ala2294Val)
c.6857C>T (p.Ala2286Val)
c.6917C>T (p.Ala2306Val)
 dbSNP
17g.31338775_31338776delCA2695225188NF1c.6873_6874del (p.Leu2292AsnfsTer8)
c.1455_1456del (p.Leu486AsnfsTer8)
n.2713_2714del
c.1047_1048del (p.Leu350AsnfsTer8)
n.3536_3537del
c.6921_6922del (p.Leu2308AsnfsTer8)
c.6891_6892del (p.Leu2298AsnfsTer8)
c.6828_6829del (p.Leu2277AsnfsTer8)
c.5826_5827del (p.Leu1943AsnfsTer8)
c.274_275del
c.7027_7028del (n.7027_7028del)
c.64+895_64+896del
n.305_306del
c.6882_6883del (p.Leu2295AsnfsTer8)
c.6858_6859del (p.Leu2287AsnfsTer8)
c.6918_6919del (p.Leu2307AsnfsTer8)
17g.31338775A=CA2255603153NF1c.6873A= (p.Ala2291=)
c.1455A= (p.Ala485=)
n.2713A=
c.1047A= (p.Ala349=)
n.3536A=
c.6921A= (p.Ala2307=)
c.6891A= (p.Ala2297=)
c.6828A= (p.Ala2276=)
c.5826A= (p.Ala1942=)
c.274A=
c.7027A= (n.7027A=)
c.64+895A=
n.305A=
c.6882A= (p.Ala2294=)
c.6858A= (p.Ala2286=)
c.6918A= (p.Ala2306=)
17g.31338775A>CCA499234361NF1c.6873A>C (p.Ala2291=)
c.1455A>C (p.Ala485=)
n.2713A>C
c.1047A>C (p.Ala349=)
n.3536A>C
c.6921A>C (p.Ala2307=)
c.6891A>C (p.Ala2297=)
c.6828A>C (p.Ala2276=)
c.5826A>C (p.Ala1942=)
c.274A>C
c.7027A>C (n.7027A>C)
c.64+895A>C
n.305A>C
c.6882A>C (p.Ala2294=)
c.6858A>C (p.Ala2286=)
c.6918A>C (p.Ala2306=)
17g.31338775A>GCA8487446NF1c.6873A>G (p.Ala2291=)
c.1455A>G (p.Ala485=)
n.2713A>G
c.1047A>G (p.Ala349=)
n.3536A>G
c.6921A>G (p.Ala2307=)
c.6891A>G (p.Ala2297=)
c.6828A>G (p.Ala2276=)
c.5826A>G (p.Ala1942=)
c.274A>G
c.7027A>G (n.7027A>G)
c.64+895A>G
n.305A>G
c.6882A>G (p.Ala2294=)
c.6858A>G (p.Ala2286=)
c.6918A>G (p.Ala2306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338775A>TCA499234362NF1c.6873A>T (p.Ala2291=)
c.1455A>T (p.Ala485=)
n.2713A>T
c.1047A>T (p.Ala349=)
n.3536A>T
c.6921A>T (p.Ala2307=)
c.6891A>T (p.Ala2297=)
c.6828A>T (p.Ala2276=)
c.5826A>T (p.Ala1942=)
c.274A>T
c.7027A>T (n.7027A>T)
c.64+895A>T
n.305A>T
c.6882A>T (p.Ala2294=)
c.6858A>T (p.Ala2286=)
c.6918A>T (p.Ala2306=)
17g.31338776delCA2695225189NF1c.6874del (p.Leu2292Ter)
c.1456del (p.Leu486Ter)
n.2714del
c.1048del (p.Leu350Ter)
n.3537del
c.6922del (p.Leu2308Ter)
c.6892del (p.Leu2298Ter)
c.6829del (p.Leu2277Ter)
c.5827del (p.Leu1943Ter)
c.275del
c.7028del (n.7028del)
c.64+896del
n.306del
c.6883del (p.Leu2295Ter)
c.6859del (p.Leu2287Ter)
c.6919del (p.Leu2307Ter)
17g.31338776C>ACA399014395NF1c.6874C>A (p.Leu2292Ile)
c.1456C>A (p.Leu486Ile)
n.2714C>A
c.1048C>A (p.Leu350Ile)
n.3537C>A
c.6922C>A (p.Leu2308Ile)
c.6892C>A (p.Leu2298Ile)
c.6829C>A (p.Leu2277Ile)
c.5827C>A (p.Leu1943Ile)
c.275C>A
c.7028C>A (n.7028C>A)
c.64+896C>A
n.306C>A
c.6883C>A (p.Leu2295Ile)
c.6859C>A (p.Leu2287Ile)
c.6919C>A (p.Leu2307Ile)
 ClinVar dbSNP
17g.31338776C=CA2255603154NF1c.6874C= (p.Leu2292=)
c.1456C= (p.Leu486=)
n.2714C=
c.1048C= (p.Leu350=)
n.3537C=
c.6922C= (p.Leu2308=)
c.6892C= (p.Leu2298=)
c.6829C= (p.Leu2277=)
c.5827C= (p.Leu1943=)
c.275C=
c.7028C= (n.7028C=)
c.64+896C=
n.306C=
c.6883C= (p.Leu2295=)
c.6859C= (p.Leu2287=)
c.6919C= (p.Leu2307=)
17g.31338776C>GCA399014396NF1c.6874C>G (p.Leu2292Val)
c.1456C>G (p.Leu486Val)
n.2714C>G
c.1048C>G (p.Leu350Val)
n.3537C>G
c.6922C>G (p.Leu2308Val)
c.6892C>G (p.Leu2298Val)
c.6829C>G (p.Leu2277Val)
c.5827C>G (p.Leu1943Val)
c.275C>G
c.7028C>G (n.7028C>G)
c.64+896C>G
n.306C>G
c.6883C>G (p.Leu2295Val)
c.6859C>G (p.Leu2287Val)
c.6919C>G (p.Leu2307Val)
 dbSNP
17g.31338776C>TCA499234363NF1c.6874C>T (p.Leu2292=)
c.1456C>T (p.Leu486=)
n.2714C>T
c.1048C>T (p.Leu350=)
n.3537C>T
c.6922C>T (p.Leu2308=)
c.6892C>T (p.Leu2298=)
c.6829C>T (p.Leu2277=)
c.5827C>T (p.Leu1943=)
c.275C>T
c.7028C>T (n.7028C>T)
c.64+896C>T
n.306C>T
c.6883C>T (p.Leu2295=)
c.6859C>T (p.Leu2287=)
c.6919C>T (p.Leu2307=)
 ClinVar dbSNP
17g.31338776dupCA916080689NF1c.6874dup (p.Leu2292ProfsTer9)
c.1456dup (p.Leu486ProfsTer9)
n.2714dup
c.1048dup (p.Leu350ProfsTer9)
n.3537dup
c.6922dup (p.Leu2308ProfsTer9)
c.6892dup (p.Leu2298ProfsTer9)
c.6829dup (p.Leu2277ProfsTer9)
c.5827dup (p.Leu1943ProfsTer9)
c.275dup
c.7028dup (n.7028dup)
c.64+896dup
n.306dup
c.6883dup (p.Leu2295ProfsTer9)
c.6859dup (p.Leu2287ProfsTer9)
c.6919dup (p.Leu2307ProfsTer9)
 ClinVar dbSNP
17g.31338777T>ACA399014397NF1c.6875T>A (p.Leu2292Gln)
c.1457T>A (p.Leu486Gln)
n.2715T>A
c.1049T>A (p.Leu350Gln)
n.3538T>A
c.6923T>A (p.Leu2308Gln)
c.6893T>A (p.Leu2298Gln)
c.6830T>A (p.Leu2277Gln)
c.5828T>A (p.Leu1943Gln)
c.276T>A
c.7029T>A (n.7029T>A)
c.64+897T>A
n.307T>A
c.6884T>A (p.Leu2295Gln)
c.6860T>A (p.Leu2287Gln)
c.6920T>A (p.Leu2307Gln)
17g.31338777T>CCA399014398NF1c.6875T>C (p.Leu2292Pro)
c.1457T>C (p.Leu486Pro)
n.2715T>C
c.1049T>C (p.Leu350Pro)
n.3538T>C
c.6923T>C (p.Leu2308Pro)
c.6893T>C (p.Leu2298Pro)
c.6830T>C (p.Leu2277Pro)
c.5828T>C (p.Leu1943Pro)
c.276T>C
c.7029T>C (n.7029T>C)
c.64+897T>C
n.307T>C
c.6884T>C (p.Leu2295Pro)
c.6860T>C (p.Leu2287Pro)
c.6920T>C (p.Leu2307Pro)
 ClinVar dbSNP gnomAD v4
17g.31338777T>GCA399014399NF1c.6875T>G (p.Leu2292Arg)
c.1457T>G (p.Leu486Arg)
n.2715T>G
c.1049T>G (p.Leu350Arg)
n.3538T>G
c.6923T>G (p.Leu2308Arg)
c.6893T>G (p.Leu2298Arg)
c.6830T>G (p.Leu2277Arg)
c.5828T>G (p.Leu1943Arg)
c.276T>G
c.7029T>G (n.7029T>G)
c.64+897T>G
n.307T>G
c.6884T>G (p.Leu2295Arg)
c.6860T>G (p.Leu2287Arg)
c.6920T>G (p.Leu2307Arg)
 gnomAD v4
17g.31338777T=CA2255603155NF1c.6875T= (p.Leu2292=)
c.1457T= (p.Leu486=)
n.2715T=
c.1049T= (p.Leu350=)
n.3538T=
c.6923T= (p.Leu2308=)
c.6893T= (p.Leu2298=)
c.6830T= (p.Leu2277=)
c.5828T= (p.Leu1943=)
c.276T=
c.7029T= (n.7029T=)
c.64+897T=
n.307T=
c.6884T= (p.Leu2295=)
c.6860T= (p.Leu2287=)
c.6920T= (p.Leu2307=)
17g.31338778A>CCA499234364NF1c.6876A>C (p.Leu2292=)
c.1458A>C (p.Leu486=)
n.2716A>C
c.1050A>C (p.Leu350=)
n.3539A>C
c.6924A>C (p.Leu2308=)
c.6894A>C (p.Leu2298=)
c.6831A>C (p.Leu2277=)
c.5829A>C (p.Leu1943=)
c.277A>C
c.7030A>C (n.7030A>C)
c.64+898A>C
n.308A>C
c.6885A>C (p.Leu2295=)
c.6861A>C (p.Leu2287=)
c.6921A>C (p.Leu2307=)
17g.31338778A>GCA499234365NF1c.6876A>G (p.Leu2292=)
c.1458A>G (p.Leu486=)
n.2716A>G
c.1050A>G (p.Leu350=)
n.3539A>G
c.6924A>G (p.Leu2308=)
c.6894A>G (p.Leu2298=)
c.6831A>G (p.Leu2277=)
c.5829A>G (p.Leu1943=)
c.277A>G
c.7030A>G (n.7030A>G)
c.64+898A>G
n.308A>G
c.6885A>G (p.Leu2295=)
c.6861A>G (p.Leu2287=)
c.6921A>G (p.Leu2307=)
17g.31338778A>TCA499234366NF1c.6876A>T (p.Leu2292=)
c.1458A>T (p.Leu486=)
n.2716A>T
c.1050A>T (p.Leu350=)
n.3539A>T
c.6924A>T (p.Leu2308=)
c.6894A>T (p.Leu2298=)
c.6831A>T (p.Leu2277=)
c.5829A>T (p.Leu1943=)
c.277A>T
c.7030A>T (n.7030A>T)
c.64+898A>T
n.308A>T
c.6885A>T (p.Leu2295=)
c.6861A>T (p.Leu2287=)
c.6921A>T (p.Leu2307=)
17g.31338779dupCA2576223760NF1c.6877dup (p.Thr2293AsnfsTer8)
c.1459dup (p.Thr487AsnfsTer8)
n.2717dup
c.1051dup (p.Thr351AsnfsTer8)
n.3540dup
c.6925dup (p.Thr2309AsnfsTer8)
c.6895dup (p.Thr2299AsnfsTer8)
c.6832dup (p.Thr2278AsnfsTer8)
c.5830dup (p.Thr1944AsnfsTer8)
c.278dup
c.7031dup (n.7031dup)
c.64+899dup
n.309dup
c.6886dup (p.Thr2296AsnfsTer8)
c.6862dup (p.Thr2288AsnfsTer8)
c.6922dup (p.Thr2308AsnfsTer8)
17g.31338779delCA2580093170NF1c.6877del (p.Thr2293ProfsTer20)
c.1459del (p.Thr487ProfsTer20)
n.2717del
c.1051del (p.Thr351ProfsTer20)
n.3540del
c.6925del (p.Thr2309ProfsTer20)
c.6895del (p.Thr2299ProfsTer20)
c.6832del (p.Thr2278ProfsTer20)
c.5830del (p.Thr1944ProfsTer20)
c.278del
c.7031del (n.7031del)
c.64+899del
n.309del
c.6886del (p.Thr2296ProfsTer20)
c.6862del (p.Thr2288ProfsTer20)
c.6922del (p.Thr2308ProfsTer20)
 ClinVar
17g.31338779A>CCA399014402NF1c.6877A>C (p.Thr2293Pro)
c.1459A>C (p.Thr487Pro)
n.2717A>C
c.1051A>C (p.Thr351Pro)
n.3540A>C
c.6925A>C (p.Thr2309Pro)
c.6895A>C (p.Thr2299Pro)
c.6832A>C (p.Thr2278Pro)
c.5830A>C (p.Thr1944Pro)
c.278A>C
c.7031A>C (n.7031A>C)
c.64+899A>C
n.309A>C
c.6886A>C (p.Thr2296Pro)
c.6862A>C (p.Thr2288Pro)
c.6922A>C (p.Thr2308Pro)
17g.31338779A>GCA399014401NF1c.6877A>G (p.Thr2293Ala)
c.1459A>G (p.Thr487Ala)
n.2717A>G
c.1051A>G (p.Thr351Ala)
n.3540A>G
c.6925A>G (p.Thr2309Ala)
c.6895A>G (p.Thr2299Ala)
c.6832A>G (p.Thr2278Ala)
c.5830A>G (p.Thr1944Ala)
c.278A>G
c.7031A>G (n.7031A>G)
c.64+899A>G
n.309A>G
c.6886A>G (p.Thr2296Ala)
c.6862A>G (p.Thr2288Ala)
c.6922A>G (p.Thr2308Ala)
17g.31338779A>TCA399014400NF1c.6877A>T (p.Thr2293Ser)
c.1459A>T (p.Thr487Ser)
n.2717A>T
c.1051A>T (p.Thr351Ser)
n.3540A>T
c.6925A>T (p.Thr2309Ser)
c.6895A>T (p.Thr2299Ser)
c.6832A>T (p.Thr2278Ser)
c.5830A>T (p.Thr1944Ser)
c.278A>T
c.7031A>T (n.7031A>T)
c.64+899A>T
n.309A>T
c.6886A>T (p.Thr2296Ser)
c.6862A>T (p.Thr2288Ser)
c.6922A>T (p.Thr2308Ser)
17g.31338780C>ACA399014403NF1c.6878C>A (p.Thr2293Asn)
c.1460C>A (p.Thr487Asn)
n.2718C>A
c.1052C>A (p.Thr351Asn)
n.3541C>A
c.6926C>A (p.Thr2309Asn)
c.6896C>A (p.Thr2299Asn)
c.6833C>A (p.Thr2278Asn)
c.5831C>A (p.Thr1944Asn)
c.279C>A
c.7032C>A (n.7032C>A)
c.64+900C>A
n.310C>A
c.6887C>A (p.Thr2296Asn)
c.6863C>A (p.Thr2288Asn)
c.6923C>A (p.Thr2308Asn)
 ClinVar dbSNP
17g.31338780C>GCA399014404NF1c.6878C>G (p.Thr2293Ser)
c.1460C>G (p.Thr487Ser)
n.2718C>G
c.1052C>G (p.Thr351Ser)
n.3541C>G
c.6926C>G (p.Thr2309Ser)
c.6896C>G (p.Thr2299Ser)
c.6833C>G (p.Thr2278Ser)
c.5831C>G (p.Thr1944Ser)
c.279C>G
c.7032C>G (n.7032C>G)
c.64+900C>G
n.310C>G
c.6887C>G (p.Thr2296Ser)
c.6863C>G (p.Thr2288Ser)
c.6923C>G (p.Thr2308Ser)
 dbSNP
17g.31338780C>TCA399014405NF1c.6878C>T (p.Thr2293Ile)
c.1460C>T (p.Thr487Ile)
n.2718C>T
c.1052C>T (p.Thr351Ile)
n.3541C>T
c.6926C>T (p.Thr2309Ile)
c.6896C>T (p.Thr2299Ile)
c.6833C>T (p.Thr2278Ile)
c.5831C>T (p.Thr1944Ile)
c.279C>T
c.7032C>T (n.7032C>T)
c.64+900C>T
n.310C>T
c.6887C>T (p.Thr2296Ile)
c.6863C>T (p.Thr2288Ile)
c.6923C>T (p.Thr2308Ile)
 ClinVar
17g.31338781delCA2573153880NF1c.6879del (p.Lys2294AsnfsTer19)
c.1461del (p.Lys488AsnfsTer19)
n.2719del
c.1053del (p.Lys352AsnfsTer19)
n.3542del
c.6927del (p.Lys2310AsnfsTer19)
c.6897del (p.Lys2300AsnfsTer19)
c.6834del (p.Lys2279AsnfsTer19)
c.5832del (p.Lys1945AsnfsTer19)
c.280del
c.7033del (n.7033del)
c.64+901del
n.311del
c.6888del (p.Lys2297AsnfsTer19)
c.6864del (p.Lys2289AsnfsTer19)
c.6924del (p.Lys2309AsnfsTer19)
 ClinVar
17g.31338781C>ACA499234368NF1c.6879C>A (p.Thr2293=)
c.1461C>A (p.Thr487=)
n.2719C>A
c.1053C>A (p.Thr351=)
n.3542C>A
c.6927C>A (p.Thr2309=)
c.6897C>A (p.Thr2299=)
c.6834C>A (p.Thr2278=)
c.5832C>A (p.Thr1944=)
c.280C>A
c.7033C>A (n.7033C>A)
c.64+901C>A
n.311C>A
c.6888C>A (p.Thr2296=)
c.6864C>A (p.Thr2288=)
c.6924C>A (p.Thr2308=)
 dbSNP
17g.31338781C=CA2255603156NF1c.6879C= (p.Thr2293=)
c.1461C= (p.Thr487=)
n.2719C=
c.1053C= (p.Thr351=)
n.3542C=
c.6927C= (p.Thr2309=)
c.6897C= (p.Thr2299=)
c.6834C= (p.Thr2278=)
c.5832C= (p.Thr1944=)
c.280C=
c.7033C= (n.7033C=)
c.64+901C=
n.311C=
c.6888C= (p.Thr2296=)
c.6864C= (p.Thr2288=)
c.6924C= (p.Thr2308=)
17g.31338781C>GCA499234369NF1c.6879C>G (p.Thr2293=)
c.1461C>G (p.Thr487=)
n.2719C>G
c.1053C>G (p.Thr351=)
n.3542C>G
c.6927C>G (p.Thr2309=)
c.6897C>G (p.Thr2299=)
c.6834C>G (p.Thr2278=)
c.5832C>G (p.Thr1944=)
c.280C>G
c.7033C>G (n.7033C>G)
c.64+901C>G
n.311C>G
c.6888C>G (p.Thr2296=)
c.6864C>G (p.Thr2288=)
c.6924C>G (p.Thr2308=)
 ClinVar dbSNP gnomAD v4
17g.31338781C>TCA499234367NF1c.6879C>T (p.Thr2293=)
c.1461C>T (p.Thr487=)
n.2719C>T
c.1053C>T (p.Thr351=)
n.3542C>T
c.6927C>T (p.Thr2309=)
c.6897C>T (p.Thr2299=)
c.6834C>T (p.Thr2278=)
c.5832C>T (p.Thr1944=)
c.280C>T
c.7033C>T (n.7033C>T)
c.64+901C>T
n.311C>T
c.6888C>T (p.Thr2296=)
c.6864C>T (p.Thr2288=)
c.6924C>T (p.Thr2308=)
 ClinVar
17g.31338782A>CCA399014406NF1c.6880A>C (p.Lys2294Gln)
c.1462A>C (p.Lys488Gln)
n.2720A>C
c.1054A>C (p.Lys352Gln)
n.3543A>C
c.6928A>C (p.Lys2310Gln)
c.6898A>C (p.Lys2300Gln)
c.6835A>C (p.Lys2279Gln)
c.5833A>C (p.Lys1945Gln)
c.281A>C
c.7034A>C (n.7034A>C)
c.64+902A>C
n.312A>C
c.6889A>C (p.Lys2297Gln)
c.6865A>C (p.Lys2289Gln)
c.6925A>C (p.Lys2309Gln)
17g.31338782A>GCA399014407NF1c.6880A>G (p.Lys2294Glu)
c.1462A>G (p.Lys488Glu)
n.2720A>G
c.1054A>G (p.Lys352Glu)
n.3543A>G
c.6928A>G (p.Lys2310Glu)
c.6898A>G (p.Lys2300Glu)
c.6835A>G (p.Lys2279Glu)
c.5833A>G (p.Lys1945Glu)
c.281A>G
c.7034A>G (n.7034A>G)
c.64+902A>G
n.312A>G
c.6889A>G (p.Lys2297Glu)
c.6865A>G (p.Lys2289Glu)
c.6925A>G (p.Lys2309Glu)
 ClinVar
17g.31338782A>TCA399014408NF1c.6880A>T (p.Lys2294Ter)
c.1462A>T (p.Lys488Ter)
n.2720A>T
c.1054A>T (p.Lys352Ter)
n.3543A>T
c.6928A>T (p.Lys2310Ter)
c.6898A>T (p.Lys2300Ter)
c.6835A>T (p.Lys2279Ter)
c.5833A>T (p.Lys1945Ter)
c.281A>T
c.7034A>T (n.7034A>T)
c.64+902A>T
n.312A>T
c.6889A>T (p.Lys2297Ter)
c.6865A>T (p.Lys2289Ter)
c.6925A>T (p.Lys2309Ter)
 ClinVar
17g.31338784dupCA658658593NF1c.6882dup (p.Leu2295IlefsTer6)
c.1464dup (p.Leu489IlefsTer6)
n.2722dup
c.1056dup (p.Leu353IlefsTer6)
n.3545dup
c.6930dup (p.Leu2311IlefsTer6)
c.6900dup (p.Leu2301IlefsTer6)
c.6837dup (p.Leu2280IlefsTer6)
c.5835dup (p.Leu1946IlefsTer6)
c.283dup
c.7036dup (n.7036dup)
c.64+904dup
n.314dup
c.6891dup (p.Leu2298IlefsTer6)
c.6867dup (p.Leu2290IlefsTer6)
c.6927dup (p.Leu2310IlefsTer6)
 ClinVar dbSNP
17g.31338783A>CCA399014409NF1c.6881A>C (p.Lys2294Thr)
c.1463A>C (p.Lys488Thr)
n.2721A>C
c.1055A>C (p.Lys352Thr)
n.3544A>C
c.6929A>C (p.Lys2310Thr)
c.6899A>C (p.Lys2300Thr)
c.6836A>C (p.Lys2279Thr)
c.5834A>C (p.Lys1945Thr)
c.282A>C
c.7035A>C (n.7035A>C)
c.64+903A>C
n.313A>C
c.6890A>C (p.Lys2297Thr)
c.6866A>C (p.Lys2289Thr)
c.6926A>C (p.Lys2309Thr)
17g.31338783A>GCA399014411NF1c.6881A>G (p.Lys2294Arg)
c.1463A>G (p.Lys488Arg)
n.2721A>G
c.1055A>G (p.Lys352Arg)
n.3544A>G
c.6929A>G (p.Lys2310Arg)
c.6899A>G (p.Lys2300Arg)
c.6836A>G (p.Lys2279Arg)
c.5834A>G (p.Lys1945Arg)
c.282A>G
c.7035A>G (n.7035A>G)
c.64+903A>G
n.313A>G
c.6890A>G (p.Lys2297Arg)
c.6866A>G (p.Lys2289Arg)
c.6926A>G (p.Lys2309Arg)
17g.31338783A>TCA399014410NF1c.6881A>T (p.Lys2294Ile)
c.1463A>T (p.Lys488Ile)
n.2721A>T
c.1055A>T (p.Lys352Ile)
n.3544A>T
c.6929A>T (p.Lys2310Ile)
c.6899A>T (p.Lys2300Ile)
c.6836A>T (p.Lys2279Ile)
c.5834A>T (p.Lys1945Ile)
c.282A>T
c.7035A>T (n.7035A>T)
c.64+903A>T
n.313A>T
c.6890A>T (p.Lys2297Ile)
c.6866A>T (p.Lys2289Ile)
c.6926A>T (p.Lys2309Ile)
17g.31338789_31338813delCA2739267437NF1c.6887_6903+8del
c.1469_1485+8del
n.2727_2751del
c.1061_1077+8del
n.3550_3566+8del
c.6935_6951+8del
c.6905_6921+8del
c.6842_6858+8del
c.5840_5856+8del
c.288_304+8del
c.7041_7057+8del
c.64+909_64+933del
n.319_335+8del
c.6896_6912+8del
c.6872_6888+8del
c.6932_6948+8del
 ClinVar
17g.31338784A=CA2255603157NF1c.6882A= (p.Lys2294=)
c.1464A= (p.Lys488=)
n.2722A=
c.1056A= (p.Lys352=)
n.3545A=
c.6930A= (p.Lys2310=)
c.6900A= (p.Lys2300=)
c.6837A= (p.Lys2279=)
c.5835A= (p.Lys1945=)
c.283A=
c.7036A= (n.7036A=)
c.64+904A=
n.314A=
c.6891A= (p.Lys2297=)
c.6867A= (p.Lys2289=)
c.6927A= (p.Lys2309=)
17g.31338784A>CCA198079NF1c.6882A>C (p.Lys2294Asn)
c.1464A>C (p.Lys488Asn)
n.2722A>C
c.1056A>C (p.Lys352Asn)
n.3545A>C
c.6930A>C (p.Lys2310Asn)
c.6900A>C (p.Lys2300Asn)
c.6837A>C (p.Lys2279Asn)
c.5835A>C (p.Lys1945Asn)
c.283A>C
c.7036A>C (n.7036A>C)
c.64+904A>C
n.314A>C
c.6891A>C (p.Lys2297Asn)
c.6867A>C (p.Lys2289Asn)
c.6927A>C (p.Lys2309Asn)
 ClinVar dbSNP
17g.31338784A>GCA499234370NF1c.6882A>G (p.Lys2294=)
c.1464A>G (p.Lys488=)
n.2722A>G
c.1056A>G (p.Lys352=)
n.3545A>G
c.6930A>G (p.Lys2310=)
c.6900A>G (p.Lys2300=)
c.6837A>G (p.Lys2279=)
c.5835A>G (p.Lys1945=)
c.283A>G
c.7036A>G (n.7036A>G)
c.64+904A>G
n.314A>G
c.6891A>G (p.Lys2297=)
c.6867A>G (p.Lys2289=)
c.6927A>G (p.Lys2309=)
 ClinVar gnomAD v4
17g.31338784A>TCA399014412NF1c.6882A>T (p.Lys2294Asn)
c.1464A>T (p.Lys488Asn)
n.2722A>T
c.1056A>T (p.Lys352Asn)
n.3545A>T
c.6930A>T (p.Lys2310Asn)
c.6900A>T (p.Lys2300Asn)
c.6837A>T (p.Lys2279Asn)
c.5835A>T (p.Lys1945Asn)
c.283A>T
c.7036A>T (n.7036A>T)
c.64+904A>T
n.314A>T
c.6891A>T (p.Lys2297Asn)
c.6867A>T (p.Lys2289Asn)
c.6927A>T (p.Lys2309Asn)
 ClinVar dbSNP
17g.31338785T>ACA399014413NF1c.6883T>A (p.Leu2295Ile)
c.1465T>A (p.Leu489Ile)
n.2723T>A
c.1057T>A (p.Leu353Ile)
n.3546T>A
c.6931T>A (p.Leu2311Ile)
c.6901T>A (p.Leu2301Ile)
c.6838T>A (p.Leu2280Ile)
c.5836T>A (p.Leu1946Ile)
c.284T>A
c.7037T>A (n.7037T>A)
c.64+905T>A
n.315T>A
c.6892T>A (p.Leu2298Ile)
c.6868T>A (p.Leu2290Ile)
c.6928T>A (p.Leu2310Ile)
 dbSNP
17g.31338785T>CCA499234371NF1c.6883T>C (p.Leu2295=)
c.1465T>C (p.Leu489=)
n.2723T>C
c.1057T>C (p.Leu353=)
n.3546T>C
c.6931T>C (p.Leu2311=)
c.6901T>C (p.Leu2301=)
c.6838T>C (p.Leu2280=)
c.5836T>C (p.Leu1946=)
c.284T>C
c.7037T>C (n.7037T>C)
c.64+905T>C
n.315T>C
c.6892T>C (p.Leu2298=)
c.6868T>C (p.Leu2290=)
c.6928T>C (p.Leu2310=)
17g.31338785T>GCA399014414NF1c.6883T>G (p.Leu2295Val)
c.1465T>G (p.Leu489Val)
n.2723T>G
c.1057T>G (p.Leu353Val)
n.3546T>G
c.6931T>G (p.Leu2311Val)
c.6901T>G (p.Leu2301Val)
c.6838T>G (p.Leu2280Val)
c.5836T>G (p.Leu1946Val)
c.284T>G
c.7037T>G (n.7037T>G)
c.64+905T>G
n.315T>G
c.6892T>G (p.Leu2298Val)
c.6868T>G (p.Leu2290Val)
c.6928T>G (p.Leu2310Val)
17g.31338785_31338786delCA2809195012NF1c.6883_6884del (p.Leu2295ThrfsTer5)
c.1465_1466del (p.Leu489ThrfsTer5)
n.2723_2724del
c.1057_1058del (p.Leu353ThrfsTer5)
n.3546_3547del
c.6931_6932del (p.Leu2311ThrfsTer5)
c.6901_6902del (p.Leu2301ThrfsTer5)
c.6838_6839del (p.Leu2280ThrfsTer5)
c.5836_5837del (p.Leu1946ThrfsTer5)
c.284_285del
c.7037_7038del (n.7037_7038del)
c.64+905_64+906del
n.315_316del
c.6892_6893del (p.Leu2298ThrfsTer5)
c.6868_6869del (p.Leu2290ThrfsTer5)
c.6928_6929del (p.Leu2310ThrfsTer5)
17g.31338786delCA2637078894NF1c.6884del (p.Leu2295TyrfsTer18)
c.1466del (p.Leu489TyrfsTer18)
n.2724del
c.1058del (p.Leu353TyrfsTer18)
n.3547del
c.6932del (p.Leu2311TyrfsTer18)
c.6902del (p.Leu2301TyrfsTer18)
c.6839del (p.Leu2280TyrfsTer18)
c.5837del (p.Leu1946TyrfsTer18)
c.285del
c.7038del (n.7038del)
c.64+906del
n.316del
c.6893del (p.Leu2298TyrfsTer18)
c.6869del (p.Leu2290TyrfsTer18)
c.6929del (p.Leu2310TyrfsTer18)
 dbSNP gnomAD v4
17g.31338786T>ACA399014415NF1c.6884T>A (p.Leu2295Ter)
c.1466T>A (p.Leu489Ter)
n.2724T>A
c.1058T>A (p.Leu353Ter)
n.3547T>A
c.6932T>A (p.Leu2311Ter)
c.6902T>A (p.Leu2301Ter)
c.6839T>A (p.Leu2280Ter)
c.5837T>A (p.Leu1946Ter)
c.285T>A
c.7038T>A (n.7038T>A)
c.64+906T>A
n.316T>A
c.6893T>A (p.Leu2298Ter)
c.6869T>A (p.Leu2290Ter)
c.6929T>A (p.Leu2310Ter)
 ClinVar dbSNP
17g.31338786T>CCA399014416NF1c.6884T>C (p.Leu2295Ser)
c.1466T>C (p.Leu489Ser)
n.2724T>C
c.1058T>C (p.Leu353Ser)
n.3547T>C
c.6932T>C (p.Leu2311Ser)
c.6902T>C (p.Leu2301Ser)
c.6839T>C (p.Leu2280Ser)
c.5837T>C (p.Leu1946Ser)
c.285T>C
c.7038T>C (n.7038T>C)
c.64+906T>C
n.316T>C
c.6893T>C (p.Leu2298Ser)
c.6869T>C (p.Leu2290Ser)
c.6929T>C (p.Leu2310Ser)
17g.31338786T>GCA399014417NF1c.6884T>G (p.Leu2295Ter)
c.1466T>G (p.Leu489Ter)
n.2724T>G
c.1058T>G (p.Leu353Ter)
n.3547T>G
c.6932T>G (p.Leu2311Ter)
c.6902T>G (p.Leu2301Ter)
c.6839T>G (p.Leu2280Ter)
c.5837T>G (p.Leu1946Ter)
c.285T>G
c.7038T>G (n.7038T>G)
c.64+906T>G
n.316T>G
c.6893T>G (p.Leu2298Ter)
c.6869T>G (p.Leu2290Ter)
c.6929T>G (p.Leu2310Ter)
 ClinVar dbSNP
17g.31338786T=CA2255603158NF1c.6884T= (p.Leu2295=)
c.1466T= (p.Leu489=)
n.2724T=
c.1058T= (p.Leu353=)
n.3547T=
c.6932T= (p.Leu2311=)
c.6902T= (p.Leu2301=)
c.6839T= (p.Leu2280=)
c.5837T= (p.Leu1946=)
c.285T=
c.7038T= (n.7038T=)
c.64+906T=
n.316T=
c.6893T= (p.Leu2298=)
c.6869T= (p.Leu2290=)
c.6929T= (p.Leu2310=)
17g.31338786_31338788delCA2695225190NF1c.6884_6886del (p.Leu2295Ter)
c.1466_1468del (p.Leu489Ter)
n.2724_2726del
c.1058_1060del (p.Leu353Ter)
n.3547_3549del
c.6932_6934del (p.Leu2311Ter)
c.6902_6904del (p.Leu2301Ter)
c.6839_6841del (p.Leu2280Ter)
c.5837_5839del (p.Leu1946Ter)
c.285_287del
c.7038_7040del (n.7038_7040del)
c.64+906_64+908del
n.316_318del
c.6893_6895del (p.Leu2298Ter)
c.6869_6871del (p.Leu2290Ter)
c.6929_6931del (p.Leu2310Ter)
17g.31338787A=CA2255603159NF1c.6885A= (p.Leu2295=)
c.1467A= (p.Leu489=)
n.2725A=
c.1059A= (p.Leu353=)
n.3548A=
c.6933A= (p.Leu2311=)
c.6903A= (p.Leu2301=)
c.6840A= (p.Leu2280=)
c.5838A= (p.Leu1946=)
c.286A=
c.7039A= (n.7039A=)
c.64+907A=
n.317A=
c.6894A= (p.Leu2298=)
c.6870A= (p.Leu2290=)
c.6930A= (p.Leu2310=)
17g.31338787A>CCA8487447NF1c.6885A>C (p.Leu2295Phe)
c.1467A>C (p.Leu489Phe)
n.2725A>C
c.1059A>C (p.Leu353Phe)
n.3548A>C
c.6933A>C (p.Leu2311Phe)
c.6903A>C (p.Leu2301Phe)
c.6840A>C (p.Leu2280Phe)
c.5838A>C (p.Leu1946Phe)
c.286A>C
c.7039A>C (n.7039A>C)
c.64+907A>C
n.317A>C
c.6894A>C (p.Leu2298Phe)
c.6870A>C (p.Leu2290Phe)
c.6930A>C (p.Leu2310Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338787A>GCA499234372NF1c.6885A>G (p.Leu2295=)
c.1467A>G (p.Leu489=)
n.2725A>G
c.1059A>G (p.Leu353=)
n.3548A>G
c.6933A>G (p.Leu2311=)
c.6903A>G (p.Leu2301=)
c.6840A>G (p.Leu2280=)
c.5838A>G (p.Leu1946=)
c.286A>G
c.7039A>G (n.7039A>G)
c.64+907A>G
n.317A>G
c.6894A>G (p.Leu2298=)
c.6870A>G (p.Leu2290=)
c.6930A>G (p.Leu2310=)
 ClinVar
17g.31338787A>TCA399014418NF1c.6885A>T (p.Leu2295Phe)
c.1467A>T (p.Leu489Phe)
n.2725A>T
c.1059A>T (p.Leu353Phe)
n.3548A>T
c.6933A>T (p.Leu2311Phe)
c.6903A>T (p.Leu2301Phe)
c.6840A>T (p.Leu2280Phe)
c.5838A>T (p.Leu1946Phe)
c.286A>T
c.7039A>T (n.7039A>T)
c.64+907A>T
n.317A>T
c.6894A>T (p.Leu2298Phe)
c.6870A>T (p.Leu2290Phe)
c.6930A>T (p.Leu2310Phe)
 dbSNP
17g.31338788delCA2695225191NF1c.6886del (p.Gln2296SerfsTer17)
c.1468del (p.Gln490SerfsTer17)
n.2726del
c.1060del (p.Gln354SerfsTer17)
n.3549del
c.6934del (p.Gln2312SerfsTer17)
c.6904del (p.Gln2302SerfsTer17)
c.6841del (p.Gln2281SerfsTer17)
c.5839del (p.Gln1947SerfsTer17)
c.287del
c.7040del (n.7040del)
c.64+908del
n.318del
c.6895del (p.Gln2299SerfsTer17)
c.6871del (p.Gln2291SerfsTer17)
c.6931del (p.Gln2311SerfsTer17)
17g.31338788C>ACA399014419NF1c.6886C>A (p.Gln2296Lys)
c.1468C>A (p.Gln490Lys)
n.2726C>A
c.1060C>A (p.Gln354Lys)
n.3549C>A
c.6934C>A (p.Gln2312Lys)
c.6904C>A (p.Gln2302Lys)
c.6841C>A (p.Gln2281Lys)
c.5839C>A (p.Gln1947Lys)
c.287C>A
c.7040C>A (n.7040C>A)
c.64+908C>A
n.318C>A
c.6895C>A (p.Gln2299Lys)
c.6871C>A (p.Gln2291Lys)
c.6931C>A (p.Gln2311Lys)
 dbSNP
17g.31338788C=CA2255603160NF1c.6886C= (p.Gln2296=)
c.1468C= (p.Gln490=)
n.2726C=
c.1060C= (p.Gln354=)
n.3549C=
c.6934C= (p.Gln2312=)
c.6904C= (p.Gln2302=)
c.6841C= (p.Gln2281=)
c.5839C= (p.Gln1947=)
c.287C=
c.7040C= (n.7040C=)
c.64+908C=
n.318C=
c.6895C= (p.Gln2299=)
c.6871C= (p.Gln2291=)
c.6931C= (p.Gln2311=)
17g.31338788C>GCA399014420NF1c.6886C>G (p.Gln2296Glu)
c.1468C>G (p.Gln490Glu)
n.2726C>G
c.1060C>G (p.Gln354Glu)
n.3549C>G
c.6934C>G (p.Gln2312Glu)
c.6904C>G (p.Gln2302Glu)
c.6841C>G (p.Gln2281Glu)
c.5839C>G (p.Gln1947Glu)
c.287C>G
c.7040C>G (n.7040C>G)
c.64+908C>G
n.318C>G
c.6895C>G (p.Gln2299Glu)
c.6871C>G (p.Gln2291Glu)
c.6931C>G (p.Gln2311Glu)
17g.31338788C>TCA16043526NF1c.6886C>T (p.Gln2296Ter)
c.1468C>T (p.Gln490Ter)
n.2726C>T
c.1060C>T (p.Gln354Ter)
n.3549C>T
c.6934C>T (p.Gln2312Ter)
c.6904C>T (p.Gln2302Ter)
c.6841C>T (p.Gln2281Ter)
c.5839C>T (p.Gln1947Ter)
c.287C>T
c.7040C>T (n.7040C>T)
c.64+908C>T
n.318C>T
c.6895C>T (p.Gln2299Ter)
c.6871C>T (p.Gln2291Ter)
c.6931C>T (p.Gln2311Ter)
 ClinVar dbSNP
17g.31338789A>CCA399014421NF1c.6887A>C (p.Gln2296Pro)
c.1469A>C (p.Gln490Pro)
n.2727A>C
c.1061A>C (p.Gln354Pro)
n.3550A>C
c.6935A>C (p.Gln2312Pro)
c.6905A>C (p.Gln2302Pro)
c.6842A>C (p.Gln2281Pro)
c.5840A>C (p.Gln1947Pro)
c.288A>C
c.7041A>C (n.7041A>C)
c.64+909A>C
n.319A>C
c.6896A>C (p.Gln2299Pro)
c.6872A>C (p.Gln2291Pro)
c.6932A>C (p.Gln2311Pro)
17g.31338789A>GCA399014423NF1c.6887A>G (p.Gln2296Arg)
c.1469A>G (p.Gln490Arg)
n.2727A>G
c.1061A>G (p.Gln354Arg)
n.3550A>G
c.6935A>G (p.Gln2312Arg)
c.6905A>G (p.Gln2302Arg)
c.6842A>G (p.Gln2281Arg)
c.5840A>G (p.Gln1947Arg)
c.288A>G
c.7041A>G (n.7041A>G)
c.64+909A>G
n.319A>G
c.6896A>G (p.Gln2299Arg)
c.6872A>G (p.Gln2291Arg)
c.6932A>G (p.Gln2311Arg)
 ClinVar gnomAD v4
17g.31338789A>TCA399014422NF1c.6887A>T (p.Gln2296Leu)
c.1469A>T (p.Gln490Leu)
n.2727A>T
c.1061A>T (p.Gln354Leu)
n.3550A>T
c.6935A>T (p.Gln2312Leu)
c.6905A>T (p.Gln2302Leu)
c.6842A>T (p.Gln2281Leu)
c.5840A>T (p.Gln1947Leu)
c.288A>T
c.7041A>T (n.7041A>T)
c.64+909A>T
n.319A>T
c.6896A>T (p.Gln2299Leu)
c.6872A>T (p.Gln2291Leu)
c.6932A>T (p.Gln2311Leu)
17g.31338789_31338790insATTACA2637078899NF1c.6887_6888insATTA (p.Pro2297LeufsTer5)
c.1469_1470insATTA (p.Pro491LeufsTer5)
n.2727_2728insATTA
c.1061_1062insATTA (p.Pro355LeufsTer5)
n.3550_3551insATTA
c.6935_6936insATTA (p.Pro2313LeufsTer5)
c.6905_6906insATTA (p.Pro2303LeufsTer5)
c.6842_6843insATTA (p.Pro2282LeufsTer5)
c.5840_5841insATTA (p.Pro1948LeufsTer5)
c.288_289insATTA
c.7041_7042insATTA (n.7041_7042insATTA)
c.64+909_64+910insATTA
n.319_320insATTA
c.6896_6897insATTA (p.Pro2300LeufsTer5)
c.6872_6873insATTA (p.Pro2292LeufsTer5)
c.6932_6933insATTA (p.Pro2312LeufsTer5)
 gnomAD v4
17g.31338789_31338790delinsAGCA2255603161NF1c.6887_6888delinsAG (p.Gln2296=)
c.1469_1470delinsAG (p.Gln490=)
n.2727_2728delinsAG
c.1061_1062delinsAG (p.Gln354=)
n.3550_3551delinsAG
c.6935_6936delinsAG (p.Gln2312=)
c.6905_6906delinsAG (p.Gln2302=)
c.6842_6843delinsAG (p.Gln2281=)
c.5840_5841delinsAG (p.Gln1947=)
c.288_289delinsAG
c.7041_7042delinsAG (n.7041_7042delinsAG)
c.64+909_64+910delinsAG
n.319_320delinsAG
c.6896_6897delinsAG (p.Gln2299=)
c.6872_6873delinsAG (p.Gln2291=)
c.6932_6933delinsAG (p.Gln2311=)
17g.31338790delCA499234374NF1c.6888del (p.Gln2296HisfsTer17)
c.1470del (p.Gln490HisfsTer17)
n.2728del
c.1062del (p.Gln354HisfsTer17)
n.3551del
c.6936del (p.Gln2312HisfsTer17)
c.6906del (p.Gln2302HisfsTer17)
c.6843del (p.Gln2281HisfsTer17)
c.5841del (p.Gln1947HisfsTer17)
c.289del
c.7042del (n.7042del)
c.64+910del
n.320del
c.6897del (p.Gln2299HisfsTer17)
c.6873del (p.Gln2291HisfsTer17)
c.6933del (p.Gln2311HisfsTer17)
 ClinVar dbSNP COSMIC COSMIC
17g.31338790G>ACA499234373NF1c.6888G>A (p.Gln2296=)
c.1470G>A (p.Gln490=)
n.2728G>A
c.1062G>A (p.Gln354=)
n.3551G>A
c.6936G>A (p.Gln2312=)
c.6906G>A (p.Gln2302=)
c.6843G>A (p.Gln2281=)
c.5841G>A (p.Gln1947=)
c.289G>A
c.7042G>A (n.7042G>A)
c.64+910G>A
n.320G>A
c.6897G>A (p.Gln2299=)
c.6873G>A (p.Gln2291=)
c.6933G>A (p.Gln2311=)
 ClinVar dbSNP
17g.31338790G>CCA399014424NF1c.6888G>C (p.Gln2296His)
c.1470G>C (p.Gln490His)
n.2728G>C
c.1062G>C (p.Gln354His)
n.3551G>C
c.6936G>C (p.Gln2312His)
c.6906G>C (p.Gln2302His)
c.6843G>C (p.Gln2281His)
c.5841G>C (p.Gln1947His)
c.289G>C
c.7042G>C (n.7042G>C)
c.64+910G>C
n.320G>C
c.6897G>C (p.Gln2299His)
c.6873G>C (p.Gln2291His)
c.6933G>C (p.Gln2311His)
17g.31338790G=CA2255603162NF1c.6888G= (p.Gln2296=)
c.1470G= (p.Gln490=)
n.2728G=
c.1062G= (p.Gln354=)
n.3551G=
c.6936G= (p.Gln2312=)
c.6906G= (p.Gln2302=)
c.6843G= (p.Gln2281=)
c.5841G= (p.Gln1947=)
c.289G=
c.7042G= (n.7042G=)
c.64+910G=
n.320G=
c.6897G= (p.Gln2299=)
c.6873G= (p.Gln2291=)
c.6933G= (p.Gln2311=)
17g.31338790G>TCA399014425NF1c.6888G>T (p.Gln2296His)
c.1470G>T (p.Gln490His)
n.2728G>T
c.1062G>T (p.Gln354His)
n.3551G>T
c.6936G>T (p.Gln2312His)
c.6906G>T (p.Gln2302His)
c.6843G>T (p.Gln2281His)
c.5841G>T (p.Gln1947His)
c.289G>T
c.7042G>T (n.7042G>T)
c.64+910G>T
n.320G>T
c.6897G>T (p.Gln2299His)
c.6873G>T (p.Gln2291His)
c.6933G>T (p.Gln2311His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338791C>ACA399014426NF1c.6889C>A (p.Pro2297Thr)
c.1471C>A (p.Pro491Thr)
n.2729C>A
c.1063C>A (p.Pro355Thr)
n.3552C>A
c.6937C>A (p.Pro2313Thr)
c.6907C>A (p.Pro2303Thr)
c.6844C>A (p.Pro2282Thr)
c.5842C>A (p.Pro1948Thr)
c.290C>A
c.7043C>A (n.7043C>A)
c.64+911C>A
n.321C>A
c.6898C>A (p.Pro2300Thr)
c.6874C>A (p.Pro2292Thr)
c.6934C>A (p.Pro2312Thr)
 dbSNP gnomAD v4
17g.31338791C>GCA399014427NF1c.6889C>G (p.Pro2297Ala)
c.1471C>G (p.Pro491Ala)
n.2729C>G
c.1063C>G (p.Pro355Ala)
n.3552C>G
c.6937C>G (p.Pro2313Ala)
c.6907C>G (p.Pro2303Ala)
c.6844C>G (p.Pro2282Ala)
c.5842C>G (p.Pro1948Ala)
c.290C>G
c.7043C>G (n.7043C>G)
c.64+911C>G
n.321C>G
c.6898C>G (p.Pro2300Ala)
c.6874C>G (p.Pro2292Ala)
c.6934C>G (p.Pro2312Ala)
 dbSNP
17g.31338791C>TCA399014428NF1c.6889C>T (p.Pro2297Ser)
c.1471C>T (p.Pro491Ser)
n.2729C>T
c.1063C>T (p.Pro355Ser)
n.3552C>T
c.6937C>T (p.Pro2313Ser)
c.6907C>T (p.Pro2303Ser)
c.6844C>T (p.Pro2282Ser)
c.5842C>T (p.Pro1948Ser)
c.290C>T
c.7043C>T (n.7043C>T)
c.64+911C>T
n.321C>T
c.6898C>T (p.Pro2300Ser)
c.6874C>T (p.Pro2292Ser)
c.6934C>T (p.Pro2312Ser)
 dbSNP
17g.31338792C>ACA399014429NF1c.6890C>A (p.Pro2297Gln)
c.1472C>A (p.Pro491Gln)
n.2730C>A
c.1064C>A (p.Pro355Gln)
n.3553C>A
c.6938C>A (p.Pro2313Gln)
c.6908C>A (p.Pro2303Gln)
c.6845C>A (p.Pro2282Gln)
c.5843C>A (p.Pro1948Gln)
c.291C>A
c.7044C>A (n.7044C>A)
c.64+912C>A
n.322C>A
c.6899C>A (p.Pro2300Gln)
c.6875C>A (p.Pro2292Gln)
c.6935C>A (p.Pro2312Gln)
 gnomAD v4
17g.31338792C>GCA399014430NF1c.6890C>G (p.Pro2297Arg)
c.1472C>G (p.Pro491Arg)
n.2730C>G
c.1064C>G (p.Pro355Arg)
n.3553C>G
c.6938C>G (p.Pro2313Arg)
c.6908C>G (p.Pro2303Arg)
c.6845C>G (p.Pro2282Arg)
c.5843C>G (p.Pro1948Arg)
c.291C>G
c.7044C>G (n.7044C>G)
c.64+912C>G
n.322C>G
c.6899C>G (p.Pro2300Arg)
c.6875C>G (p.Pro2292Arg)
c.6935C>G (p.Pro2312Arg)
17g.31338792C>TCA399014431NF1c.6890C>T (p.Pro2297Leu)
c.1472C>T (p.Pro491Leu)
n.2730C>T
c.1064C>T (p.Pro355Leu)
n.3553C>T
c.6938C>T (p.Pro2313Leu)
c.6908C>T (p.Pro2303Leu)
c.6845C>T (p.Pro2282Leu)
c.5843C>T (p.Pro1948Leu)
c.291C>T
c.7044C>T (n.7044C>T)
c.64+912C>T
n.322C>T
c.6899C>T (p.Pro2300Leu)
c.6875C>T (p.Pro2292Leu)
c.6935C>T (p.Pro2312Leu)
 ClinVar dbSNP
17g.31338793delCA2499224202NF1c.6891del (p.Leu2298PhefsTer15)
c.1473del (p.Leu492PhefsTer15)
n.2731del
c.1065del (p.Leu356PhefsTer15)
n.3554del
c.6939del (p.Leu2314PhefsTer15)
c.6909del (p.Leu2304PhefsTer15)
c.6846del (p.Leu2283PhefsTer15)
c.5844del (p.Leu1949PhefsTer15)
c.292del
c.7045del (n.7045del)
c.64+913del
n.323del
c.6900del (p.Leu2301PhefsTer15)
c.6876del (p.Leu2293PhefsTer15)
c.6936del (p.Leu2313PhefsTer15)
 ClinVar dbSNP
17g.31338793A>CCA499234375NF1c.6891A>C (p.Pro2297=)
c.1473A>C (p.Pro491=)
n.2731A>C
c.1065A>C (p.Pro355=)
n.3554A>C
c.6939A>C (p.Pro2313=)
c.6909A>C (p.Pro2303=)
c.6846A>C (p.Pro2282=)
c.5844A>C (p.Pro1948=)
c.292A>C
c.7045A>C (n.7045A>C)
c.64+913A>C
n.323A>C
c.6900A>C (p.Pro2300=)
c.6876A>C (p.Pro2292=)
c.6936A>C (p.Pro2312=)
17g.31338793A>GCA499234376NF1c.6891A>G (p.Pro2297=)
c.1473A>G (p.Pro491=)
n.2731A>G
c.1065A>G (p.Pro355=)
n.3554A>G
c.6939A>G (p.Pro2313=)
c.6909A>G (p.Pro2303=)
c.6846A>G (p.Pro2282=)
c.5844A>G (p.Pro1948=)
c.292A>G
c.7045A>G (n.7045A>G)
c.64+913A>G
n.323A>G
c.6900A>G (p.Pro2300=)
c.6876A>G (p.Pro2292=)
c.6936A>G (p.Pro2312=)
17g.31338793A>TCA499234377NF1c.6891A>T (p.Pro2297=)
c.1473A>T (p.Pro491=)
n.2731A>T
c.1065A>T (p.Pro355=)
n.3554A>T
c.6939A>T (p.Pro2313=)
c.6909A>T (p.Pro2303=)
c.6846A>T (p.Pro2282=)
c.5844A>T (p.Pro1948=)
c.292A>T
c.7045A>T (n.7045A>T)
c.64+913A>T
n.323A>T
c.6900A>T (p.Pro2300=)
c.6876A>T (p.Pro2292=)
c.6936A>T (p.Pro2312=)
 dbSNP
17g.31338794C>ACA399014432NF1c.6892C>A (p.Leu2298Ile)
c.1474C>A (p.Leu492Ile)
n.2732C>A
c.1066C>A (p.Leu356Ile)
n.3555C>A
c.6940C>A (p.Leu2314Ile)
c.6910C>A (p.Leu2304Ile)
c.6847C>A (p.Leu2283Ile)
c.5845C>A (p.Leu1949Ile)
c.293C>A
c.7046C>A (n.7046C>A)
c.64+914C>A
n.324C>A
c.6901C>A (p.Leu2301Ile)
c.6877C>A (p.Leu2293Ile)
c.6937C>A (p.Leu2313Ile)
17g.31338794C=CA2255603163NF1c.6892C= (p.Leu2298=)
c.1474C= (p.Leu492=)
n.2732C=
c.1066C= (p.Leu356=)
n.3555C=
c.6940C= (p.Leu2314=)
c.6910C= (p.Leu2304=)
c.6847C= (p.Leu2283=)
c.5845C= (p.Leu1949=)
c.293C=
c.7046C= (n.7046C=)
c.64+914C=
n.324C=
c.6901C= (p.Leu2301=)
c.6877C= (p.Leu2293=)
c.6937C= (p.Leu2313=)
17g.31338794C>GCA399014433NF1c.6892C>G (p.Leu2298Val)
c.1474C>G (p.Leu492Val)
n.2732C>G
c.1066C>G (p.Leu356Val)
n.3555C>G
c.6940C>G (p.Leu2314Val)
c.6910C>G (p.Leu2304Val)
c.6847C>G (p.Leu2283Val)
c.5845C>G (p.Leu1949Val)
c.293C>G
c.7046C>G (n.7046C>G)
c.64+914C>G
n.324C>G
c.6901C>G (p.Leu2301Val)
c.6877C>G (p.Leu2293Val)
c.6937C>G (p.Leu2313Val)
17g.31338794C>TCA399014434NF1c.6892C>T (p.Leu2298Phe)
c.1474C>T (p.Leu492Phe)
n.2732C>T
c.1066C>T (p.Leu356Phe)
n.3555C>T
c.6940C>T (p.Leu2314Phe)
c.6910C>T (p.Leu2304Phe)
c.6847C>T (p.Leu2283Phe)
c.5845C>T (p.Leu1949Phe)
c.293C>T
c.7046C>T (n.7046C>T)
c.64+914C>T
n.324C>T
c.6901C>T (p.Leu2301Phe)
c.6877C>T (p.Leu2293Phe)
c.6937C>T (p.Leu2313Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.31338795T>ACA399014437NF1c.6893T>A (p.Leu2298His)
c.1475T>A (p.Leu492His)
n.2733T>A
c.1067T>A (p.Leu356His)
n.3556T>A
c.6941T>A (p.Leu2314His)
c.6911T>A (p.Leu2304His)
c.6848T>A (p.Leu2283His)
c.5846T>A (p.Leu1949His)
c.294T>A
c.7047T>A (n.7047T>A)
c.64+915T>A
n.325T>A
c.6902T>A (p.Leu2301His)
c.6878T>A (p.Leu2293His)
c.6938T>A (p.Leu2313His)
 dbSNP
17g.31338795T>CCA399014436NF1c.6893T>C (p.Leu2298Pro)
c.1475T>C (p.Leu492Pro)
n.2733T>C
c.1067T>C (p.Leu356Pro)
n.3556T>C
c.6941T>C (p.Leu2314Pro)
c.6911T>C (p.Leu2304Pro)
c.6848T>C (p.Leu2283Pro)
c.5846T>C (p.Leu1949Pro)
c.294T>C
c.7047T>C (n.7047T>C)
c.64+915T>C
n.325T>C
c.6902T>C (p.Leu2301Pro)
c.6878T>C (p.Leu2293Pro)
c.6938T>C (p.Leu2313Pro)
 dbSNP
17g.31338795T>GCA399014435NF1c.6893T>G (p.Leu2298Arg)
c.1475T>G (p.Leu492Arg)
n.2733T>G
c.1067T>G (p.Leu356Arg)
n.3556T>G
c.6941T>G (p.Leu2314Arg)
c.6911T>G (p.Leu2304Arg)
c.6848T>G (p.Leu2283Arg)
c.5846T>G (p.Leu1949Arg)
c.294T>G
c.7047T>G (n.7047T>G)
c.64+915T>G
n.325T>G
c.6902T>G (p.Leu2301Arg)
c.6878T>G (p.Leu2293Arg)
c.6938T>G (p.Leu2313Arg)
17g.31338796delCA2580093172NF1c.6894del (p.Asn2300IlefsTer13)
c.1476del (p.Asn494IlefsTer13)
n.2734del
c.1068del (p.Asn358IlefsTer13)
n.3557del
c.6942del (p.Asn2316IlefsTer13)
c.6912del (p.Asn2306IlefsTer13)
c.6849del (p.Asn2285IlefsTer13)
c.5847del (p.Asn1951IlefsTer13)
c.295del
c.7048del (n.7048del)
c.64+916del
n.326del
c.6903del (p.Asn2303IlefsTer13)
c.6879del (p.Asn2295IlefsTer13)
c.6939del (p.Asn2315IlefsTer13)
 ClinVar
17g.31338795_31338800delinsTTCTTACA2255603164NF1c.6893_6898delinsTTCTTA (p.Leu2298=)
c.1475_1480delinsTTCTTA (p.Leu492=)
n.2733_2738delinsTTCTTA
c.1067_1072delinsTTCTTA (p.Leu356=)
n.3556_3561delinsTTCTTA
c.6941_6946delinsTTCTTA (p.Leu2314=)
c.6911_6916delinsTTCTTA (p.Leu2304=)
c.6848_6853delinsTTCTTA (p.Leu2283=)
c.5846_5851delinsTTCTTA (p.Leu1949=)
c.294_299delinsTTCTTA
c.7047_7052delinsTTCTTA (n.7047_7052delinsTTCTTA)
c.64+915_64+920delinsTTCTTA
n.325_330delinsTTCTTA
c.6902_6907delinsTTCTTA (p.Leu2301=)
c.6878_6883delinsTTCTTA (p.Leu2293=)
c.6938_6943delinsTTCTTA (p.Leu2313=)
17g.31338796T>ACA499234378NF1c.6894T>A (p.Leu2298=)
c.1476T>A (p.Leu492=)
n.2734T>A
c.1068T>A (p.Leu356=)
n.3557T>A
c.6942T>A (p.Leu2314=)
c.6912T>A (p.Leu2304=)
c.6849T>A (p.Leu2283=)
c.5847T>A (p.Leu1949=)
c.295T>A
c.7048T>A (n.7048T>A)
c.64+916T>A
n.326T>A
c.6903T>A (p.Leu2301=)
c.6879T>A (p.Leu2293=)
c.6939T>A (p.Leu2313=)
 ClinVar dbSNP
17g.31338796T>CCA499234379NF1c.6894T>C (p.Leu2298=)
c.1476T>C (p.Leu492=)
n.2734T>C
c.1068T>C (p.Leu356=)
n.3557T>C
c.6942T>C (p.Leu2314=)
c.6912T>C (p.Leu2304=)
c.6849T>C (p.Leu2283=)
c.5847T>C (p.Leu1949=)
c.295T>C
c.7048T>C (n.7048T>C)
c.64+916T>C
n.326T>C
c.6903T>C (p.Leu2301=)
c.6879T>C (p.Leu2293=)
c.6939T>C (p.Leu2313=)
 gnomAD v4
17g.31338796T>GCA499234380NF1c.6894T>G (p.Leu2298=)
c.1476T>G (p.Leu492=)
n.2734T>G
c.1068T>G (p.Leu356=)
n.3557T>G
c.6942T>G (p.Leu2314=)
c.6912T>G (p.Leu2304=)
c.6849T>G (p.Leu2283=)
c.5847T>G (p.Leu1949=)
c.295T>G
c.7048T>G (n.7048T>G)
c.64+916T>G
n.326T>G
c.6903T>G (p.Leu2301=)
c.6879T>G (p.Leu2293=)
c.6939T>G (p.Leu2313=)
 ClinVar dbSNP
17g.31338796T=CA2255603165NF1c.6894T= (p.Leu2298=)
c.1476T= (p.Leu492=)
n.2734T=
c.1068T= (p.Leu356=)
n.3557T=
c.6942T= (p.Leu2314=)
c.6912T= (p.Leu2304=)
c.6849T= (p.Leu2283=)
c.5847T= (p.Leu1949=)
c.295T=
c.7048T= (n.7048T=)
c.64+916T=
n.326T=
c.6903T= (p.Leu2301=)
c.6879T= (p.Leu2293=)
c.6939T= (p.Leu2313=)
17g.31338796_31338800delCA10581295NF1c.6894_6898del (p.Leu2299Ter)
c.1476_1480del (p.Leu493Ter)
n.2734_2738del
c.1068_1072del (p.Leu357Ter)
n.3557_3561del
c.6942_6946del (p.Leu2315Ter)
c.6912_6916del (p.Leu2305Ter)
c.6849_6853del (p.Leu2284Ter)
c.5847_5851del (p.Leu1950Ter)
c.295_299del
c.7048_7052del (n.7048_7052del)
c.64+916_64+920del
n.326_330del
c.6903_6907del (p.Leu2302Ter)
c.6879_6883del (p.Leu2294Ter)
c.6939_6943del (p.Leu2314Ter)
 ClinVar dbSNP
17g.31338796_31338797insGCA658761001NF1c.6894_6895insG (p.Leu2299AlafsTer2)
c.1476_1477insG (p.Leu493AlafsTer2)
n.2734_2735insG
c.1068_1069insG (p.Leu357AlafsTer2)
n.3557_3558insG
c.6942_6943insG (p.Leu2315AlafsTer2)
c.6912_6913insG (p.Leu2305AlafsTer2)
c.6849_6850insG (p.Leu2284AlafsTer2)
c.5847_5848insG (p.Leu1950AlafsTer2)
c.295_296insG
c.7048_7049insG (n.7048_7049insG)
c.64+916_64+917insG
n.326_327insG
c.6903_6904insG (p.Leu2302AlafsTer2)
c.6879_6880insG (p.Leu2294AlafsTer2)
c.6939_6940insG (p.Leu2314AlafsTer2)
17g.31338797delCA2739267438NF1c.6895del (p.Asn2300IlefsTer13)
c.1477del (p.Asn494IlefsTer13)
n.2735del
c.1069del (p.Asn358IlefsTer13)
n.3558del
c.6943del (p.Asn2316IlefsTer13)
c.6913del (p.Asn2306IlefsTer13)
c.6850del (p.Asn2285IlefsTer13)
c.5848del (p.Asn1951IlefsTer13)
c.296del
c.7049del (n.7049del)
c.64+917del
n.327del
c.6904del (p.Asn2303IlefsTer13)
c.6880del (p.Asn2295IlefsTer13)
c.6940del (p.Asn2315IlefsTer13)
 ClinVar
17g.31338797C>ACA399014438NF1c.6895C>A (p.Leu2299Ile)
c.1477C>A (p.Leu493Ile)
n.2735C>A
c.1069C>A (p.Leu357Ile)
n.3558C>A
c.6943C>A (p.Leu2315Ile)
c.6913C>A (p.Leu2305Ile)
c.6850C>A (p.Leu2284Ile)
c.5848C>A (p.Leu1950Ile)
c.296C>A
c.7049C>A (n.7049C>A)
c.64+917C>A
n.327C>A
c.6904C>A (p.Leu2302Ile)
c.6880C>A (p.Leu2294Ile)
c.6940C>A (p.Leu2314Ile)
17g.31338797C>GCA399014439NF1c.6895C>G (p.Leu2299Val)
c.1477C>G (p.Leu493Val)
n.2735C>G
c.1069C>G (p.Leu357Val)
n.3558C>G
c.6943C>G (p.Leu2315Val)
c.6913C>G (p.Leu2305Val)
c.6850C>G (p.Leu2284Val)
c.5848C>G (p.Leu1950Val)
c.296C>G
c.7049C>G (n.7049C>G)
c.64+917C>G
n.327C>G
c.6904C>G (p.Leu2302Val)
c.6880C>G (p.Leu2294Val)
c.6940C>G (p.Leu2314Val)
17g.31338797C>TCA399014440NF1c.6895C>T (p.Leu2299Phe)
c.1477C>T (p.Leu493Phe)
n.2735C>T
c.1069C>T (p.Leu357Phe)
n.3558C>T
c.6943C>T (p.Leu2315Phe)
c.6913C>T (p.Leu2305Phe)
c.6850C>T (p.Leu2284Phe)
c.5848C>T (p.Leu1950Phe)
c.296C>T
c.7049C>T (n.7049C>T)
c.64+917C>T
n.327C>T
c.6904C>T (p.Leu2302Phe)
c.6880C>T (p.Leu2294Phe)
c.6940C>T (p.Leu2314Phe)
17g.31338798T>ACA399014441NF1c.6896T>A (p.Leu2299His)
c.1478T>A (p.Leu493His)
n.2736T>A
c.1070T>A (p.Leu357His)
n.3559T>A
c.6944T>A (p.Leu2315His)
c.6914T>A (p.Leu2305His)
c.6851T>A (p.Leu2284His)
c.5849T>A (p.Leu1950His)
c.297T>A
c.7050T>A (n.7050T>A)
c.64+918T>A
n.328T>A
c.6905T>A (p.Leu2302His)
c.6881T>A (p.Leu2294His)
c.6941T>A (p.Leu2314His)
17g.31338798T>CCA399014442NF1c.6896T>C (p.Leu2299Pro)
c.1478T>C (p.Leu493Pro)
n.2736T>C
c.1070T>C (p.Leu357Pro)
n.3559T>C
c.6944T>C (p.Leu2315Pro)
c.6914T>C (p.Leu2305Pro)
c.6851T>C (p.Leu2284Pro)
c.5849T>C (p.Leu1950Pro)
c.297T>C
c.7050T>C (n.7050T>C)
c.64+918T>C
n.328T>C
c.6905T>C (p.Leu2302Pro)
c.6881T>C (p.Leu2294Pro)
c.6941T>C (p.Leu2314Pro)
17g.31338798T>GCA399014443NF1c.6896T>G (p.Leu2299Arg)
c.1478T>G (p.Leu493Arg)
n.2736T>G
c.1070T>G (p.Leu357Arg)
n.3559T>G
c.6944T>G (p.Leu2315Arg)
c.6914T>G (p.Leu2305Arg)
c.6851T>G (p.Leu2284Arg)
c.5849T>G (p.Leu1950Arg)
c.297T>G
c.7050T>G (n.7050T>G)
c.64+918T>G
n.328T>G
c.6905T>G (p.Leu2302Arg)
c.6881T>G (p.Leu2294Arg)
c.6941T>G (p.Leu2314Arg)
17g.31338798T=CA2255603166NF1c.6896T= (p.Leu2299=)
c.1478T= (p.Leu493=)
n.2736T=
c.1070T= (p.Leu357=)
n.3559T=
c.6944T= (p.Leu2315=)
c.6914T= (p.Leu2305=)
c.6851T= (p.Leu2284=)
c.5849T= (p.Leu1950=)
c.297T=
c.7050T= (n.7050T=)
c.64+918T=
n.328T=
c.6905T= (p.Leu2302=)
c.6881T= (p.Leu2294=)
c.6941T= (p.Leu2314=)
17g.31338798_31338799insATTATCA2580093174NF1c.6896_6897insATTAT (p.Asn2300LeufsTer15)
c.1478_1479insATTAT (p.Asn494LeufsTer15)
n.2736_2737insATTAT
c.1070_1071insATTAT (p.Asn358LeufsTer15)
n.3559_3560insATTAT
c.6944_6945insATTAT (p.Asn2316LeufsTer15)
c.6914_6915insATTAT (p.Asn2306LeufsTer15)
c.6851_6852insATTAT (p.Asn2285LeufsTer15)
c.5849_5850insATTAT (p.Asn1951LeufsTer15)
c.297_298insATTAT
c.7050_7051insATTAT (n.7050_7051insATTAT)
c.64+918_64+919insATTAT
n.328_329insATTAT
c.6905_6906insATTAT (p.Asn2303LeufsTer15)
c.6881_6882insATTAT (p.Asn2295LeufsTer15)
c.6941_6942insATTAT (p.Asn2315LeufsTer15)
 ClinVar
17g.31338799T>ACA499234381NF1c.6897T>A (p.Leu2299=)
c.1479T>A (p.Leu493=)
n.2737T>A
c.1071T>A (p.Leu357=)
n.3560T>A
c.6945T>A (p.Leu2315=)
c.6915T>A (p.Leu2305=)
c.6852T>A (p.Leu2284=)
c.5850T>A (p.Leu1950=)
c.298T>A
c.7051T>A (n.7051T>A)
c.64+919T>A
n.329T>A
c.6906T>A (p.Leu2302=)
c.6882T>A (p.Leu2294=)
c.6942T>A (p.Leu2314=)
 dbSNP
17g.31338799T>CCA499234382NF1c.6897T>C (p.Leu2299=)
c.1479T>C (p.Leu493=)
n.2737T>C
c.1071T>C (p.Leu357=)
n.3560T>C
c.6945T>C (p.Leu2315=)
c.6915T>C (p.Leu2305=)
c.6852T>C (p.Leu2284=)
c.5850T>C (p.Leu1950=)
c.298T>C
c.7051T>C (n.7051T>C)
c.64+919T>C
n.329T>C
c.6906T>C (p.Leu2302=)
c.6882T>C (p.Leu2294=)
c.6942T>C (p.Leu2314=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338799T>GCA499234383NF1c.6897T>G (p.Leu2299=)
c.1479T>G (p.Leu493=)
n.2737T>G
c.1071T>G (p.Leu357=)
n.3560T>G
c.6945T>G (p.Leu2315=)
c.6915T>G (p.Leu2305=)
c.6852T>G (p.Leu2284=)
c.5850T>G (p.Leu1950=)
c.298T>G
c.7051T>G (n.7051T>G)
c.64+919T>G
n.329T>G
c.6906T>G (p.Leu2302=)
c.6882T>G (p.Leu2294=)
c.6942T>G (p.Leu2314=)
 ClinVar gnomAD v4
17g.31338799T=CA2255603167NF1c.6897T= (p.Leu2299=)
c.1479T= (p.Leu493=)
n.2737T=
c.1071T= (p.Leu357=)
n.3560T=
c.6945T= (p.Leu2315=)
c.6915T= (p.Leu2305=)
c.6852T= (p.Leu2284=)
c.5850T= (p.Leu1950=)
c.298T=
c.7051T= (n.7051T=)
c.64+919T=
n.329T=
c.6906T= (p.Leu2302=)
c.6882T= (p.Leu2294=)
c.6942T= (p.Leu2314=)
17g.31338799_31338800dupCA658798771NF1c.6897_6898dup (p.Asn2300IlefsTer14)
c.1479_1480dup (p.Asn494IlefsTer14)
n.2737_2738dup
c.1071_1072dup (p.Asn358IlefsTer14)
n.3560_3561dup
c.6945_6946dup (p.Asn2316IlefsTer14)
c.6915_6916dup (p.Asn2306IlefsTer14)
c.6852_6853dup (p.Asn2285IlefsTer14)
c.5850_5851dup (p.Asn1951IlefsTer14)
c.298_299dup
c.7051_7052dup (n.7051_7052dup)
c.64+919_64+920dup
n.329_330dup
c.6906_6907dup (p.Asn2303IlefsTer14)
c.6882_6883dup (p.Asn2295IlefsTer14)
c.6942_6943dup (p.Asn2315IlefsTer14)
 ClinVar dbSNP
17g.31338800A>CCA399014444NF1c.6898A>C (p.Asn2300His)
c.1480A>C (p.Asn494His)
n.2738A>C
c.1072A>C (p.Asn358His)
n.3561A>C
c.6946A>C (p.Asn2316His)
c.6916A>C (p.Asn2306His)
c.6853A>C (p.Asn2285His)
c.5851A>C (p.Asn1951His)
c.299A>C
c.7052A>C (n.7052A>C)
c.64+920A>C
n.330A>C
c.6907A>C (p.Asn2303His)
c.6883A>C (p.Asn2295His)
c.6943A>C (p.Asn2315His)
17g.31338800A>GCA399014445NF1c.6898A>G (p.Asn2300Asp)
c.1480A>G (p.Asn494Asp)
n.2738A>G
c.1072A>G (p.Asn358Asp)
n.3561A>G
c.6946A>G (p.Asn2316Asp)
c.6916A>G (p.Asn2306Asp)
c.6853A>G (p.Asn2285Asp)
c.5851A>G (p.Asn1951Asp)
c.299A>G
c.7052A>G (n.7052A>G)
c.64+920A>G
n.330A>G
c.6907A>G (p.Asn2303Asp)
c.6883A>G (p.Asn2295Asp)
c.6943A>G (p.Asn2315Asp)
17g.31338800A>TCA399014446NF1c.6898A>T (p.Asn2300Tyr)
c.1480A>T (p.Asn494Tyr)
n.2738A>T
c.1072A>T (p.Asn358Tyr)
n.3561A>T
c.6946A>T (p.Asn2316Tyr)
c.6916A>T (p.Asn2306Tyr)
c.6853A>T (p.Asn2285Tyr)
c.5851A>T (p.Asn1951Tyr)
c.299A>T
c.7052A>T (n.7052A>T)
c.64+920A>T
n.330A>T
c.6907A>T (p.Asn2303Tyr)
c.6883A>T (p.Asn2295Tyr)
c.6943A>T (p.Asn2315Tyr)
 dbSNP
17g.31338800_31338801delCA2559048655NF1c.6898_6899del (p.Asn2300Ter)
c.1480_1481del (p.Asn494Ter)
n.2738_2739del
c.1072_1073del (p.Asn358Ter)
n.3561_3562del
c.6946_6947del (p.Asn2316Ter)
c.6916_6917del (p.Asn2306Ter)
c.6853_6854del (p.Asn2285Ter)
c.5851_5852del (p.Asn1951Ter)
c.299_300del
c.7052_7053del (n.7052_7053del)
c.64+920_64+921del
n.330_331del
c.6907_6908del (p.Asn2303Ter)
c.6883_6884del (p.Asn2295Ter)
c.6943_6944del (p.Asn2315Ter)
17g.31338801A=CA2255603168NF1c.6899A= (p.Asn2300=)
c.1481A= (p.Asn494=)
n.2739A=
c.1073A= (p.Asn358=)
n.3562A=
c.6947A= (p.Asn2316=)
c.6917A= (p.Asn2306=)
c.6854A= (p.Asn2285=)
c.5852A= (p.Asn1951=)
c.300A=
c.7053A= (n.7053A=)
c.64+921A=
n.331A=
c.6908A= (p.Asn2303=)
c.6884A= (p.Asn2295=)
c.6944A= (p.Asn2315=)
17g.31338801A>CCA399014447NF1c.6899A>C (p.Asn2300Thr)
c.1481A>C (p.Asn494Thr)
n.2739A>C
c.1073A>C (p.Asn358Thr)
n.3562A>C
c.6947A>C (p.Asn2316Thr)
c.6917A>C (p.Asn2306Thr)
c.6854A>C (p.Asn2285Thr)
c.5852A>C (p.Asn1951Thr)
c.300A>C
c.7053A>C (n.7053A>C)
c.64+921A>C
n.331A>C
c.6908A>C (p.Asn2303Thr)
c.6884A>C (p.Asn2295Thr)
c.6944A>C (p.Asn2315Thr)
17g.31338801A>GCA399014448NF1c.6899A>G (p.Asn2300Ser)
c.1481A>G (p.Asn494Ser)
n.2739A>G
c.1073A>G (p.Asn358Ser)
n.3562A>G
c.6947A>G (p.Asn2316Ser)
c.6917A>G (p.Asn2306Ser)
c.6854A>G (p.Asn2285Ser)
c.5852A>G (p.Asn1951Ser)
c.300A>G
c.7053A>G (n.7053A>G)
c.64+921A>G
n.331A>G
c.6908A>G (p.Asn2303Ser)
c.6884A>G (p.Asn2295Ser)
c.6944A>G (p.Asn2315Ser)
 ClinVar dbSNP
17g.31338801A>TCA399014449NF1c.6899A>T (p.Asn2300Ile)
c.1481A>T (p.Asn494Ile)
n.2739A>T
c.1073A>T (p.Asn358Ile)
n.3562A>T
c.6947A>T (p.Asn2316Ile)
c.6917A>T (p.Asn2306Ile)
c.6854A>T (p.Asn2285Ile)
c.5852A>T (p.Asn1951Ile)
c.300A>T
c.7053A>T (n.7053A>T)
c.64+921A>T
n.331A>T
c.6908A>T (p.Asn2303Ile)
c.6884A>T (p.Asn2295Ile)
c.6944A>T (p.Asn2315Ile)
 ClinVar gnomAD v4
17g.31338802T>ACA399014450NF1c.6900T>A (p.Asn2300Lys)
c.1482T>A (p.Asn494Lys)
n.2740T>A
c.1074T>A (p.Asn358Lys)
n.3563T>A
c.6948T>A (p.Asn2316Lys)
c.6918T>A (p.Asn2306Lys)
c.6855T>A (p.Asn2285Lys)
c.5853T>A (p.Asn1951Lys)
c.301T>A
c.7054T>A (n.7054T>A)
c.64+922T>A
n.332T>A
c.6909T>A (p.Asn2303Lys)
c.6885T>A (p.Asn2295Lys)
c.6945T>A (p.Asn2315Lys)
 ClinVar dbSNP gnomAD v4
17g.31338802T>CCA499234384NF1c.6900T>C (p.Asn2300=)
c.1482T>C (p.Asn494=)
n.2740T>C
c.1074T>C (p.Asn358=)
n.3563T>C
c.6948T>C (p.Asn2316=)
c.6918T>C (p.Asn2306=)
c.6855T>C (p.Asn2285=)
c.5853T>C (p.Asn1951=)
c.301T>C
c.7054T>C (n.7054T>C)
c.64+922T>C
n.332T>C
c.6909T>C (p.Asn2303=)
c.6885T>C (p.Asn2295=)
c.6945T>C (p.Asn2315=)
17g.31338802T>GCA399014451NF1c.6900T>G (p.Asn2300Lys)
c.1482T>G (p.Asn494Lys)
n.2740T>G
c.1074T>G (p.Asn358Lys)
n.3563T>G
c.6948T>G (p.Asn2316Lys)
c.6918T>G (p.Asn2306Lys)
c.6855T>G (p.Asn2285Lys)
c.5853T>G (p.Asn1951Lys)
c.301T>G
c.7054T>G (n.7054T>G)
c.64+922T>G
n.332T>G
c.6909T>G (p.Asn2303Lys)
c.6885T>G (p.Asn2295Lys)
c.6945T>G (p.Asn2315Lys)
17g.31338802T=CA2255603169NF1c.6900T= (p.Asn2300=)
c.1482T= (p.Asn494=)
n.2740T=
c.1074T= (p.Asn358=)
n.3563T=
c.6948T= (p.Asn2316=)
c.6918T= (p.Asn2306=)
c.6855T= (p.Asn2285=)
c.5853T= (p.Asn1951=)
c.301T=
c.7054T= (n.7054T=)
c.64+922T=
n.332T=
c.6909T= (p.Asn2303=)
c.6885T= (p.Asn2295=)
c.6945T= (p.Asn2315=)
17g.31338802_31338805delinsTAAGCA2255603170NF1c.6900_6903delinsTAAG (p.Asn2300=)
c.1482_1485delinsTAAG (p.Asn494=)
n.2740_2743delinsTAAG
c.1074_1077delinsTAAG (p.Asn358=)
n.3563_3566delinsTAAG
c.6948_6951delinsTAAG (p.Asn2316=)
c.6918_6921delinsTAAG (p.Asn2306=)
c.6855_6858delinsTAAG (p.Asn2285=)
c.5853_5856delinsTAAG (p.Asn1951=)
c.301_304delinsTAAG
c.7054_7057delinsTAAG (n.7054_7057delinsTAAG)
c.64+922_64+925delinsTAAG
n.332_335delinsTAAG
c.6909_6912delinsTAAG (p.Asn2303=)
c.6885_6888delinsTAAG (p.Asn2295=)
c.6945_6948delinsTAAG (p.Asn2315=)
17g.31338803A>CCA399014452NF1c.6901A>C (p.Lys2301Gln)
c.1483A>C (p.Lys495Gln)
n.2741A>C
c.1075A>C (p.Lys359Gln)
n.3564A>C
c.6949A>C (p.Lys2317Gln)
c.6919A>C (p.Lys2307Gln)
c.6856A>C (p.Lys2286Gln)
c.5854A>C (p.Lys1952Gln)
c.302A>C
c.7055A>C (n.7055A>C)
c.64+923A>C
n.333A>C
c.6910A>C (p.Lys2304Gln)
c.6886A>C (p.Lys2296Gln)
c.6946A>C (p.Lys2316Gln)
17g.31338803A>GCA399014453NF1c.6901A>G (p.Lys2301Glu)
c.1483A>G (p.Lys495Glu)
n.2741A>G
c.1075A>G (p.Lys359Glu)
n.3564A>G
c.6949A>G (p.Lys2317Glu)
c.6919A>G (p.Lys2307Glu)
c.6856A>G (p.Lys2286Glu)
c.5854A>G (p.Lys1952Glu)
c.302A>G
c.7055A>G (n.7055A>G)
c.64+923A>G
n.333A>G
c.6910A>G (p.Lys2304Glu)
c.6886A>G (p.Lys2296Glu)
c.6946A>G (p.Lys2316Glu)
17g.31338803A>TCA399014454NF1c.6901A>T (p.Lys2301Ter)
c.1483A>T (p.Lys495Ter)
n.2741A>T
c.1075A>T (p.Lys359Ter)
n.3564A>T
c.6949A>T (p.Lys2317Ter)
c.6919A>T (p.Lys2307Ter)
c.6856A>T (p.Lys2286Ter)
c.5854A>T (p.Lys1952Ter)
c.302A>T
c.7055A>T (n.7055A>T)
c.64+923A>T
n.333A>T
c.6910A>T (p.Lys2304Ter)
c.6886A>T (p.Lys2296Ter)
c.6946A>T (p.Lys2316Ter)
17g.31338803_31338805delCA169766NF1c.6901_6903del (p.Lys2301del)
c.1483_1485del (p.Lys495del)
n.2741_2743del
c.1075_1077del (p.Lys359del)
n.3564_3566del
c.6949_6951del (p.Lys2317del)
c.6919_6921del (p.Lys2307del)
c.6856_6858del (p.Lys2286del)
c.5854_5856del (p.Lys1952del)
c.302_304del
c.7055_7057del (n.7055_7057del)
c.64+923_64+925del
n.333_335del
c.6910_6912del (p.Lys2304del)
c.6886_6888del (p.Lys2296del)
c.6946_6948del (p.Lys2316del)
 ClinVar dbSNP
17g.31338804A=CA2255603171NF1c.6902A= (p.Lys2301=)
c.1484A= (p.Lys495=)
n.2742A=
c.1076A= (p.Lys359=)
n.3565A=
c.6950A= (p.Lys2317=)
c.6920A= (p.Lys2307=)
c.6857A= (p.Lys2286=)
c.5855A= (p.Lys1952=)
c.303A=
c.7056A= (n.7056A=)
c.64+924A=
n.334A=
c.6911A= (p.Lys2304=)
c.6887A= (p.Lys2296=)
c.6947A= (p.Lys2316=)
17g.31338804A>CCA399014456NF1c.6902A>C (p.Lys2301Thr)
c.1484A>C (p.Lys495Thr)
n.2742A>C
c.1076A>C (p.Lys359Thr)
n.3565A>C
c.6950A>C (p.Lys2317Thr)
c.6920A>C (p.Lys2307Thr)
c.6857A>C (p.Lys2286Thr)
c.5855A>C (p.Lys1952Thr)
c.303A>C
c.7056A>C (n.7056A>C)
c.64+924A>C
n.334A>C
c.6911A>C (p.Lys2304Thr)
c.6887A>C (p.Lys2296Thr)
c.6947A>C (p.Lys2316Thr)
17g.31338804A>GCA8487448NF1c.6902A>G (p.Lys2301Arg)
c.1484A>G (p.Lys495Arg)
n.2742A>G
c.1076A>G (p.Lys359Arg)
n.3565A>G
c.6950A>G (p.Lys2317Arg)
c.6920A>G (p.Lys2307Arg)
c.6857A>G (p.Lys2286Arg)
c.5855A>G (p.Lys1952Arg)
c.303A>G
c.7056A>G (n.7056A>G)
c.64+924A>G
n.334A>G
c.6911A>G (p.Lys2304Arg)
c.6887A>G (p.Lys2296Arg)
c.6947A>G (p.Lys2316Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338804A>TCA399014455NF1c.6902A>T (p.Lys2301Met)
c.1484A>T (p.Lys495Met)
n.2742A>T
c.1076A>T (p.Lys359Met)
n.3565A>T
c.6950A>T (p.Lys2317Met)
c.6920A>T (p.Lys2307Met)
c.6857A>T (p.Lys2286Met)
c.5855A>T (p.Lys1952Met)
c.303A>T
c.7056A>T (n.7056A>T)
c.64+924A>T
n.334A>T
c.6911A>T (p.Lys2304Met)
c.6887A>T (p.Lys2296Met)
c.6947A>T (p.Lys2316Met)
 dbSNP
17g.31338805G>ACA499234385NF1c.6903G>A (p.Lys2301=)
c.1485G>A (p.Lys495=)
n.2743G>A
c.1077G>A (p.Lys359=)
n.3566G>A
c.6951G>A (p.Lys2317=)
c.6921G>A (p.Lys2307=)
c.6858G>A (p.Lys2286=)
c.5856G>A (p.Lys1952=)
c.304G>A
c.7057G>A (n.7057G>A)
c.64+925G>A
n.335G>A
c.6912G>A (p.Lys2304=)
c.6888G>A (p.Lys2296=)
c.6948G>A (p.Lys2316=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31338805G>CCA399014457NF1c.6903G>C (p.Lys2301Asn)
c.1485G>C (p.Lys495Asn)
n.2743G>C
c.1077G>C (p.Lys359Asn)
n.3566G>C
c.6951G>C (p.Lys2317Asn)
c.6921G>C (p.Lys2307Asn)
c.6858G>C (p.Lys2286Asn)
c.5856G>C (p.Lys1952Asn)
c.304G>C
c.7057G>C (n.7057G>C)
c.64+925G>C
n.335G>C
c.6912G>C (p.Lys2304Asn)
c.6888G>C (p.Lys2296Asn)
c.6948G>C (p.Lys2316Asn)
 ClinVar dbSNP gnomAD v4
17g.31338805G=CA2255603172NF1c.6903G= (p.Lys2301=)
c.1485G= (p.Lys495=)
n.2743G=
c.1077G= (p.Lys359=)
n.3566G=
c.6951G= (p.Lys2317=)
c.6921G= (p.Lys2307=)
c.6858G= (p.Lys2286=)
c.5856G= (p.Lys1952=)
c.304G=
c.7057G= (n.7057G=)
c.64+925G=
n.335G=
c.6912G= (p.Lys2304=)
c.6888G= (p.Lys2296=)
c.6948G= (p.Lys2316=)
17g.31338805G>TCA16607563NF1c.6903G>T (p.Lys2301Asn)
c.1485G>T (p.Lys495Asn)
n.2743G>T
c.1077G>T (p.Lys359Asn)
n.3566G>T
c.6951G>T (p.Lys2317Asn)
c.6921G>T (p.Lys2307Asn)
c.6858G>T (p.Lys2286Asn)
c.5856G>T (p.Lys1952Asn)
c.304G>T
c.7057G>T (n.7057G>T)
c.64+925G>T
n.335G>T
c.6912G>T (p.Lys2304Asn)
c.6888G>T (p.Lys2296Asn)
c.6948G>T (p.Lys2316Asn)
 ClinVar dbSNP
17g.31338806G>ACA16615312NF1c.6903+1G>A (n.6903+1G>A)
c.1485+1G>A (n.1485+1G>A)
n.2744G>A
c.1077+1G>A (n.1077+1G>A)
n.3566+1G>A
c.6951+1G>A (n.6951+1G>A)
c.6921+1G>A (n.6921+1G>A)
c.6858+1G>A (n.6858+1G>A)
c.5856+1G>A (n.5856+1G>A)
c.304+1G>A
c.7057+1G>A (n.7057+1G>A)
c.64+926G>A
n.335+1G>A
c.6912+1G>A (n.6912+1G>A)
c.6888+1G>A (n.6888+1G>A)
c.6948+1G>A (n.6948+1G>A)
 ClinVar dbSNP gnomAD v4
17g.31338806G>CCA399014458NF1c.6903+1G>C (n.6903+1G>C)
c.1485+1G>C (n.1485+1G>C)
n.2744G>C
c.1077+1G>C (n.1077+1G>C)
n.3566+1G>C
c.6951+1G>C (n.6951+1G>C)
c.6921+1G>C (n.6921+1G>C)
c.6858+1G>C (n.6858+1G>C)
c.5856+1G>C (n.5856+1G>C)
c.304+1G>C
c.7057+1G>C (n.7057+1G>C)
c.64+926G>C
n.335+1G>C
c.6912+1G>C (n.6912+1G>C)
c.6888+1G>C (n.6888+1G>C)
c.6948+1G>C (n.6948+1G>C)
 ClinVar dbSNP
17g.31338806G=CA2255603173NF1c.6903+1G= (n.6903+1G=)
c.1485+1G= (n.1485+1G=)
n.2744G=
c.1077+1G= (n.1077+1G=)
n.3566+1G=
c.6951+1G= (n.6951+1G=)
c.6921+1G= (n.6921+1G=)
c.6858+1G= (n.6858+1G=)
c.5856+1G= (n.5856+1G=)
c.304+1G=
c.7057+1G= (n.7057+1G=)
c.64+926G=
n.335+1G=
c.6912+1G= (n.6912+1G=)
c.6888+1G= (n.6888+1G=)
c.6948+1G= (n.6948+1G=)
17g.31338806G>TCA399014459NF1c.6903+1G>T (n.6903+1G>T)
c.1485+1G>T (n.1485+1G>T)
n.2744G>T
c.1077+1G>T (n.1077+1G>T)
n.3566+1G>T
c.6951+1G>T (n.6951+1G>T)
c.6921+1G>T (n.6921+1G>T)
c.6858+1G>T (n.6858+1G>T)
c.5856+1G>T (n.5856+1G>T)
c.304+1G>T
c.7057+1G>T (n.7057+1G>T)
c.64+926G>T
n.335+1G>T
c.6912+1G>T (n.6912+1G>T)
c.6888+1G>T (n.6888+1G>T)
c.6948+1G>T (n.6948+1G>T)
 ClinVar dbSNP
17g.31338807delCA2831039599NF1c.6903+2del (n.6903+2del)
c.1485+2del (n.1485+2del)
n.2745del
c.1077+2del (n.1077+2del)
n.3566+2del
c.6951+2del (n.6951+2del)
c.6921+2del (n.6921+2del)
c.6858+2del (n.6858+2del)
c.5856+2del (n.5856+2del)
c.304+2del
c.7057+2del (n.7057+2del)
c.64+927del
n.335+2del
c.6912+2del (n.6912+2del)
c.6888+2del (n.6888+2del)
c.6948+2del (n.6948+2del)
17g.31338807T>ACA399014460NF1c.6903+2T>A (n.6903+2T>A)
c.1485+2T>A (n.1485+2T>A)
n.2745T>A
c.1077+2T>A (n.1077+2T>A)
n.3566+2T>A
c.6951+2T>A (n.6951+2T>A)
c.6921+2T>A (n.6921+2T>A)
c.6858+2T>A (n.6858+2T>A)
c.5856+2T>A (n.5856+2T>A)
c.304+2T>A
c.7057+2T>A (n.7057+2T>A)
c.64+927T>A
n.335+2T>A
c.6912+2T>A (n.6912+2T>A)
c.6888+2T>A (n.6888+2T>A)
c.6948+2T>A (n.6948+2T>A)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31338807T>CCA399014461NF1c.6903+2T>C (n.6903+2T>C)
c.1485+2T>C (n.1485+2T>C)
n.2745T>C
c.1077+2T>C (n.1077+2T>C)
n.3566+2T>C
c.6951+2T>C (n.6951+2T>C)
c.6921+2T>C (n.6921+2T>C)
c.6858+2T>C (n.6858+2T>C)
c.5856+2T>C (n.5856+2T>C)
c.304+2T>C
c.7057+2T>C (n.7057+2T>C)
c.64+927T>C
n.335+2T>C
c.6912+2T>C (n.6912+2T>C)
c.6888+2T>C (n.6888+2T>C)
c.6948+2T>C (n.6948+2T>C)
 ClinVar dbSNP
17g.31338807T>GCA399014462NF1c.6903+2T>G (n.6903+2T>G)
c.1485+2T>G (n.1485+2T>G)
n.2745T>G
c.1077+2T>G (n.1077+2T>G)
n.3566+2T>G
c.6951+2T>G (n.6951+2T>G)
c.6921+2T>G (n.6921+2T>G)
c.6858+2T>G (n.6858+2T>G)
c.5856+2T>G (n.5856+2T>G)
c.304+2T>G
c.7057+2T>G (n.7057+2T>G)
c.64+927T>G
n.335+2T>G
c.6912+2T>G (n.6912+2T>G)
c.6888+2T>G (n.6888+2T>G)
c.6948+2T>G (n.6948+2T>G)
17g.31338807T=CA2255603174NF1c.6903+2T= (n.6903+2T=)
c.1485+2T= (n.1485+2T=)
n.2745T=
c.1077+2T= (n.1077+2T=)
n.3566+2T=
c.6951+2T= (n.6951+2T=)
c.6921+2T= (n.6921+2T=)
c.6858+2T= (n.6858+2T=)
c.5856+2T= (n.5856+2T=)
c.304+2T=
c.7057+2T= (n.7057+2T=)
c.64+927T=
n.335+2T=
c.6912+2T= (n.6912+2T=)
c.6888+2T= (n.6888+2T=)
c.6948+2T= (n.6948+2T=)
17g.31338807_31338808dupCA2697559636NF1c.6903+2_6903+3dup (n.6903+2_6903+3dup)
c.1485+2_1485+3dup (n.1485+2_1485+3dup)
n.2745_2746dup
c.1077+2_1077+3dup (n.1077+2_1077+3dup)
n.3566+2_3566+3dup
c.6951+2_6951+3dup (n.6951+2_6951+3dup)
c.6921+2_6921+3dup (n.6921+2_6921+3dup)
c.6858+2_6858+3dup (n.6858+2_6858+3dup)
c.5856+2_5856+3dup (n.5856+2_5856+3dup)
c.304+2_304+3dup
c.7057+2_7057+3dup (n.7057+2_7057+3dup)
c.64+927_64+928dup
n.335+2_335+3dup
c.6912+2_6912+3dup (n.6912+2_6912+3dup)
c.6888+2_6888+3dup (n.6888+2_6888+3dup)
c.6948+2_6948+3dup (n.6948+2_6948+3dup)
 ClinVar
17g.31338808_31338869dupCA2573153881NF1c.6903+3_6903+64dup (n.6903+3_6903+64dup)
c.1485+3_1485+64dup (n.1485+3_1485+64dup)
n.2746_2807dup
c.1077+3_1077+64dup (n.1077+3_1077+64dup)
n.3566+3_3566+64dup
c.6951+3_6951+64dup (n.6951+3_6951+64dup)
c.6921+3_6921+64dup (n.6921+3_6921+64dup)
c.6858+3_6858+64dup (n.6858+3_6858+64dup)
c.5856+3_5856+64dup (n.5856+3_5856+64dup)
c.304+3_304+64dup
c.7057+3_7057+64dup (n.7057+3_7057+64dup)
c.64+928_64+989dup
n.335+3_335+64dup
c.6912+3_6912+64dup (n.6912+3_6912+64dup)
c.6888+3_6888+64dup (n.6888+3_6888+64dup)
c.6948+3_6948+64dup (n.6948+3_6948+64dup)
 ClinVar dbSNP
17g.31338808A=CA2255603175NF1c.6903+3A= (n.6903+3A=)
c.1485+3A= (n.1485+3A=)
n.2746A=
c.1077+3A= (n.1077+3A=)
n.3566+3A=
c.6951+3A= (n.6951+3A=)
c.6921+3A= (n.6921+3A=)
c.6858+3A= (n.6858+3A=)
c.5856+3A= (n.5856+3A=)
c.304+3A=
c.7057+3A= (n.7057+3A=)
c.64+928A=
n.335+3A=
c.6912+3A= (n.6912+3A=)
c.6888+3A= (n.6888+3A=)
c.6948+3A= (n.6948+3A=)
17g.31338808A>CCA2573153882NF1c.6903+3A>C (n.6903+3A>C)
c.1485+3A>C (n.1485+3A>C)
n.2746A>C
c.1077+3A>C (n.1077+3A>C)
n.3566+3A>C
c.6951+3A>C (n.6951+3A>C)
c.6921+3A>C (n.6921+3A>C)
c.6858+3A>C (n.6858+3A>C)
c.5856+3A>C (n.5856+3A>C)
c.304+3A>C
c.7057+3A>C (n.7057+3A>C)
c.64+928A>C
n.335+3A>C
c.6912+3A>C (n.6912+3A>C)
c.6888+3A>C (n.6888+3A>C)
c.6948+3A>C (n.6948+3A>C)
 ClinVar dbSNP
17g.31338808A>GCA645293901NF1c.6903+3A>G (n.6903+3A>G)
c.1485+3A>G (n.1485+3A>G)
n.2746A>G
c.1077+3A>G (n.1077+3A>G)
n.3566+3A>G
c.6951+3A>G (n.6951+3A>G)
c.6921+3A>G (n.6921+3A>G)
c.6858+3A>G (n.6858+3A>G)
c.5856+3A>G (n.5856+3A>G)
c.304+3A>G
c.7057+3A>G (n.7057+3A>G)
c.64+928A>G
n.335+3A>G
c.6912+3A>G (n.6912+3A>G)
c.6888+3A>G (n.6888+3A>G)
c.6948+3A>G (n.6948+3A>G)
 ClinVar dbSNP gnomAD v4
17g.31338808A>TCA2695225192NF1c.6903+3A>T (n.6903+3A>T)
c.1485+3A>T (n.1485+3A>T)
n.2746A>T
c.1077+3A>T (n.1077+3A>T)
n.3566+3A>T
c.6951+3A>T (n.6951+3A>T)
c.6921+3A>T (n.6921+3A>T)
c.6858+3A>T (n.6858+3A>T)
c.5856+3A>T (n.5856+3A>T)
c.304+3A>T
c.7057+3A>T (n.7057+3A>T)
c.64+928A>T
n.335+3A>T
c.6912+3A>T (n.6912+3A>T)
c.6888+3A>T (n.6888+3A>T)
c.6948+3A>T (n.6948+3A>T)
 ClinVar
17g.31338808_31338827dupCA2637078984NF1c.6903+3_6903+22dup (n.6903+3_6903+22dup)
c.1485+3_1485+22dup (n.1485+3_1485+22dup)
n.2746_2765dup
c.1077+3_1077+22dup (n.1077+3_1077+22dup)
n.3566+3_3566+22dup
c.6951+3_6951+22dup (n.6951+3_6951+22dup)
c.6921+3_6921+22dup (n.6921+3_6921+22dup)
c.6858+3_6858+22dup (n.6858+3_6858+22dup)
c.5856+3_5856+22dup (n.5856+3_5856+22dup)
c.304+3_304+22dup
c.7057+3_7057+22dup (n.7057+3_7057+22dup)
c.64+928_64+947dup
n.335+3_335+22dup
c.6912+3_6912+22dup (n.6912+3_6912+22dup)
c.6888+3_6888+22dup (n.6888+3_6888+22dup)
c.6948+3_6948+22dup (n.6948+3_6948+22dup)
 gnomAD v4
17g.31338809A=CA2255603176NF1c.6903+4A= (n.6903+4A=)
c.1485+4A= (n.1485+4A=)
n.2747A=
c.1077+4A= (n.1077+4A=)
n.3566+4A=
c.6951+4A= (n.6951+4A=)
c.6921+4A= (n.6921+4A=)
c.6858+4A= (n.6858+4A=)
c.5856+4A= (n.5856+4A=)
c.304+4A=
c.7057+4A= (n.7057+4A=)
c.64+929A=
n.335+4A=
c.6912+4A= (n.6912+4A=)
c.6888+4A= (n.6888+4A=)
c.6948+4A= (n.6948+4A=)
17g.31338809A>GCA8487449NF1c.6903+4A>G (n.6903+4A>G)
c.1485+4A>G (n.1485+4A>G)
n.2747A>G
c.1077+4A>G (n.1077+4A>G)
n.3566+4A>G
c.6951+4A>G (n.6951+4A>G)
c.6921+4A>G (n.6921+4A>G)
c.6858+4A>G (n.6858+4A>G)
c.5856+4A>G (n.5856+4A>G)
c.304+4A>G
c.7057+4A>G (n.7057+4A>G)
c.64+929A>G
n.335+4A>G
c.6912+4A>G (n.6912+4A>G)
c.6888+4A>G (n.6888+4A>G)
c.6948+4A>G (n.6948+4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338810T>ACA2733206705NF1c.6903+5T>A (n.6903+5T>A)
c.1485+5T>A (n.1485+5T>A)
n.2748T>A
c.1077+5T>A (n.1077+5T>A)
n.3566+5T>A
c.6951+5T>A (n.6951+5T>A)
c.6921+5T>A (n.6921+5T>A)
c.6858+5T>A (n.6858+5T>A)
c.5856+5T>A (n.5856+5T>A)
c.304+5T>A
c.7057+5T>A (n.7057+5T>A)
c.64+930T>A
n.335+5T>A
c.6912+5T>A (n.6912+5T>A)
c.6888+5T>A (n.6888+5T>A)
c.6948+5T>A (n.6948+5T>A)
 dbSNP
17g.31338810T>CCA8487450NF1c.6903+5T>C (n.6903+5T>C)
c.1485+5T>C (n.1485+5T>C)
n.2748T>C
c.1077+5T>C (n.1077+5T>C)
n.3566+5T>C
c.6951+5T>C (n.6951+5T>C)
c.6921+5T>C (n.6921+5T>C)
c.6858+5T>C (n.6858+5T>C)
c.5856+5T>C (n.5856+5T>C)
c.304+5T>C
c.7057+5T>C (n.7057+5T>C)
c.64+930T>C
n.335+5T>C
c.6912+5T>C (n.6912+5T>C)
c.6888+5T>C (n.6888+5T>C)
c.6948+5T>C (n.6948+5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338810T=CA2255603177NF1c.6903+5T= (n.6903+5T=)
c.1485+5T= (n.1485+5T=)
n.2748T=
c.1077+5T= (n.1077+5T=)
n.3566+5T=
c.6951+5T= (n.6951+5T=)
c.6921+5T= (n.6921+5T=)
c.6858+5T= (n.6858+5T=)
c.5856+5T= (n.5856+5T=)
c.304+5T=
c.7057+5T= (n.7057+5T=)
c.64+930T=
n.335+5T=
c.6912+5T= (n.6912+5T=)
c.6888+5T= (n.6888+5T=)
c.6948+5T= (n.6948+5T=)
17g.31338811T>CCA289388515NF1c.6903+6T>C (n.6903+6T>C)
c.1485+6T>C (n.1485+6T>C)
n.2749T>C
c.1077+6T>C (n.1077+6T>C)
n.3566+6T>C
c.6951+6T>C (n.6951+6T>C)
c.6921+6T>C (n.6921+6T>C)
c.6858+6T>C (n.6858+6T>C)
c.5856+6T>C (n.5856+6T>C)
c.304+6T>C
c.7057+6T>C (n.7057+6T>C)
c.64+931T>C
n.335+6T>C
c.6912+6T>C (n.6912+6T>C)
c.6888+6T>C (n.6888+6T>C)
c.6948+6T>C (n.6948+6T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338811T>GCA2573153883NF1c.6903+6T>G (n.6903+6T>G)
c.1485+6T>G (n.1485+6T>G)
n.2749T>G
c.1077+6T>G (n.1077+6T>G)
n.3566+6T>G
c.6951+6T>G (n.6951+6T>G)
c.6921+6T>G (n.6921+6T>G)
c.6858+6T>G (n.6858+6T>G)
c.5856+6T>G (n.5856+6T>G)
c.304+6T>G
c.7057+6T>G (n.7057+6T>G)
c.64+931T>G
n.335+6T>G
c.6912+6T>G (n.6912+6T>G)
c.6888+6T>G (n.6888+6T>G)
c.6948+6T>G (n.6948+6T>G)
 ClinVar dbSNP gnomAD v4
17g.31338811T=CA2255603178NF1c.6903+6T= (n.6903+6T=)
c.1485+6T= (n.1485+6T=)
n.2749T=
c.1077+6T= (n.1077+6T=)
n.3566+6T=
c.6951+6T= (n.6951+6T=)
c.6921+6T= (n.6921+6T=)
c.6858+6T= (n.6858+6T=)
c.5856+6T= (n.5856+6T=)
c.304+6T=
c.7057+6T= (n.7057+6T=)
c.64+931T=
n.335+6T=
c.6912+6T= (n.6912+6T=)
c.6888+6T= (n.6888+6T=)
c.6948+6T= (n.6948+6T=)
17g.31338812A>CCA2580093175NF1c.6903+7A>C (n.6903+7A>C)
c.1485+7A>C (n.1485+7A>C)
n.2750A>C
c.1077+7A>C (n.1077+7A>C)
n.3566+7A>C
c.6951+7A>C (n.6951+7A>C)
c.6921+7A>C (n.6921+7A>C)
c.6858+7A>C (n.6858+7A>C)
c.5856+7A>C (n.5856+7A>C)
c.304+7A>C
c.7057+7A>C (n.7057+7A>C)
c.64+932A>C
n.335+7A>C
c.6912+7A>C (n.6912+7A>C)
c.6888+7A>C (n.6888+7A>C)
c.6948+7A>C (n.6948+7A>C)
 ClinVar
17g.31338812A>GCA2637079005NF1c.6903+7A>G (n.6903+7A>G)
c.1485+7A>G (n.1485+7A>G)
n.2750A>G
c.1077+7A>G (n.1077+7A>G)
n.3566+7A>G
c.6951+7A>G (n.6951+7A>G)
c.6921+7A>G (n.6921+7A>G)
c.6858+7A>G (n.6858+7A>G)
c.5856+7A>G (n.5856+7A>G)
c.304+7A>G
c.7057+7A>G (n.7057+7A>G)
c.64+932A>G
n.335+7A>G
c.6912+7A>G (n.6912+7A>G)
c.6888+7A>G (n.6888+7A>G)
c.6948+7A>G (n.6948+7A>G)
 gnomAD v4
17g.31338813C>ACA2637079007NF1c.6903+8C>A (n.6903+8C>A)
c.1485+8C>A (n.1485+8C>A)
n.2751C>A
c.1077+8C>A (n.1077+8C>A)
n.3566+8C>A
c.6951+8C>A (n.6951+8C>A)
c.6921+8C>A (n.6921+8C>A)
c.6858+8C>A (n.6858+8C>A)
c.5856+8C>A (n.5856+8C>A)
c.304+8C>A
c.7057+8C>A (n.7057+8C>A)
c.64+933C>A
n.335+8C>A
c.6912+8C>A (n.6912+8C>A)
c.6888+8C>A (n.6888+8C>A)
c.6948+8C>A (n.6948+8C>A)
 gnomAD v4
17g.31338813C>GCA2733616695NF1c.6903+8C>G (n.6903+8C>G)
c.1485+8C>G (n.1485+8C>G)
n.2751C>G
c.1077+8C>G (n.1077+8C>G)
n.3566+8C>G
c.6951+8C>G (n.6951+8C>G)
c.6921+8C>G (n.6921+8C>G)
c.6858+8C>G (n.6858+8C>G)
c.5856+8C>G (n.5856+8C>G)
c.304+8C>G
c.7057+8C>G (n.7057+8C>G)
c.64+933C>G
n.335+8C>G
c.6912+8C>G (n.6912+8C>G)
c.6888+8C>G (n.6888+8C>G)
c.6948+8C>G (n.6948+8C>G)
 dbSNP
17g.31338813C>TCA2733616698NF1c.6903+8C>T (n.6903+8C>T)
c.1485+8C>T (n.1485+8C>T)
n.2751C>T
c.1077+8C>T (n.1077+8C>T)
n.3566+8C>T
c.6951+8C>T (n.6951+8C>T)
c.6921+8C>T (n.6921+8C>T)
c.6858+8C>T (n.6858+8C>T)
c.5856+8C>T (n.5856+8C>T)
c.304+8C>T
c.7057+8C>T (n.7057+8C>T)
c.64+933C>T
n.335+8C>T
c.6912+8C>T (n.6912+8C>T)
c.6888+8C>T (n.6888+8C>T)
c.6948+8C>T (n.6948+8C>T)
 dbSNP
17g.31338814delCA2697559637NF1c.6903+9del (n.6903+9del)
c.1485+9del (n.1485+9del)
n.2752del
c.1077+9del (n.1077+9del)
n.3566+9del
c.6951+9del (n.6951+9del)
c.6921+9del (n.6921+9del)
c.6858+9del (n.6858+9del)
c.5856+9del (n.5856+9del)
c.304+9del
c.7057+9del (n.7057+9del)
c.64+934del
n.335+9del
c.6912+9del (n.6912+9del)
c.6888+9del (n.6888+9del)
c.6948+9del (n.6948+9del)
 ClinVar
17g.31338814T>ACA2255603179NF1c.6903+9T>A (n.6903+9T>A)
c.1485+9T>A (n.1485+9T>A)
n.2752T>A
c.1077+9T>A (n.1077+9T>A)
n.3566+9T>A
c.6951+9T>A (n.6951+9T>A)
c.6921+9T>A (n.6921+9T>A)
c.6858+9T>A (n.6858+9T>A)
c.5856+9T>A (n.5856+9T>A)
c.304+9T>A
c.7057+9T>A (n.7057+9T>A)
c.64+934T>A
n.335+9T>A
c.6912+9T>A (n.6912+9T>A)
c.6888+9T>A (n.6888+9T>A)
c.6948+9T>A (n.6948+9T>A)
 dbSNP
17g.31338814T>CCA658658594NF1c.6903+9T>C (n.6903+9T>C)
c.1485+9T>C (n.1485+9T>C)
n.2752T>C
c.1077+9T>C (n.1077+9T>C)
n.3566+9T>C
c.6951+9T>C (n.6951+9T>C)
c.6921+9T>C (n.6921+9T>C)
c.6858+9T>C (n.6858+9T>C)
c.5856+9T>C (n.5856+9T>C)
c.304+9T>C
c.7057+9T>C (n.7057+9T>C)
c.64+934T>C
n.335+9T>C
c.6912+9T>C (n.6912+9T>C)
c.6888+9T>C (n.6888+9T>C)
c.6948+9T>C (n.6948+9T>C)
 ClinVar dbSNP gnomAD v4
17g.31338814T=CA2255603180NF1c.6903+9T= (n.6903+9T=)
c.1485+9T= (n.1485+9T=)
n.2752T=
c.1077+9T= (n.1077+9T=)
n.3566+9T=
c.6951+9T= (n.6951+9T=)
c.6921+9T= (n.6921+9T=)
c.6858+9T= (n.6858+9T=)
c.5856+9T= (n.5856+9T=)
c.304+9T=
c.7057+9T= (n.7057+9T=)
c.64+934T=
n.335+9T=
c.6912+9T= (n.6912+9T=)
c.6888+9T= (n.6888+9T=)
c.6948+9T= (n.6948+9T=)
17g.31338815_31338816delCA2499224203NF1c.6903+10_6903+11del (n.6903+10_6903+11del)
c.1485+10_1485+11del (n.1485+10_1485+11del)
n.2753_2754del
c.1077+10_1077+11del (n.1077+10_1077+11del)
n.3566+10_3566+11del
c.6951+10_6951+11del (n.6951+10_6951+11del)
c.6921+10_6921+11del (n.6921+10_6921+11del)
c.6858+10_6858+11del (n.6858+10_6858+11del)
c.5856+10_5856+11del (n.5856+10_5856+11del)
c.304+10_304+11del
c.7057+10_7057+11del (n.7057+10_7057+11del)
c.64+935_64+936del
n.335+10_335+11del
c.6912+10_6912+11del (n.6912+10_6912+11del)
c.6888+10_6888+11del (n.6888+10_6888+11del)
c.6948+10_6948+11del (n.6948+10_6948+11del)
 ClinVar dbSNP
17g.31338815G>ACA338206NF1c.6903+10G>A (n.6903+10G>A)
c.1485+10G>A (n.1485+10G>A)
n.2753G>A
c.1077+10G>A (n.1077+10G>A)
n.3566+10G>A
c.6951+10G>A (n.6951+10G>A)
c.6921+10G>A (n.6921+10G>A)
c.6858+10G>A (n.6858+10G>A)
c.5856+10G>A (n.5856+10G>A)
c.304+10G>A
c.7057+10G>A (n.7057+10G>A)
c.64+935G>A
n.335+10G>A
c.6912+10G>A (n.6912+10G>A)
c.6888+10G>A (n.6888+10G>A)
c.6948+10G>A (n.6948+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338815G>CCA2733211581NF1c.6903+10G>C (n.6903+10G>C)
c.1485+10G>C (n.1485+10G>C)
n.2753G>C
c.1077+10G>C (n.1077+10G>C)
n.3566+10G>C
c.6951+10G>C (n.6951+10G>C)
c.6921+10G>C (n.6921+10G>C)
c.6858+10G>C (n.6858+10G>C)
c.5856+10G>C (n.5856+10G>C)
c.304+10G>C
c.7057+10G>C (n.7057+10G>C)
c.64+935G>C
n.335+10G>C
c.6912+10G>C (n.6912+10G>C)
c.6888+10G>C (n.6888+10G>C)
c.6948+10G>C (n.6948+10G>C)
 dbSNP
17g.31338815G=CA2255603181NF1c.6903+10G= (n.6903+10G=)
c.1485+10G= (n.1485+10G=)
n.2753G=
c.1077+10G= (n.1077+10G=)
n.3566+10G=
c.6951+10G= (n.6951+10G=)
c.6921+10G= (n.6921+10G=)
c.6858+10G= (n.6858+10G=)
c.5856+10G= (n.5856+10G=)
c.304+10G=
c.7057+10G= (n.7057+10G=)
c.64+935G=
n.335+10G=
c.6912+10G= (n.6912+10G=)
c.6888+10G= (n.6888+10G=)
c.6948+10G= (n.6948+10G=)
17g.31338815G>TCA8487451NF1c.6903+10G>T (n.6903+10G>T)
c.1485+10G>T (n.1485+10G>T)
n.2753G>T
c.1077+10G>T (n.1077+10G>T)
n.3566+10G>T
c.6951+10G>T (n.6951+10G>T)
c.6921+10G>T (n.6921+10G>T)
c.6858+10G>T (n.6858+10G>T)
c.5856+10G>T (n.5856+10G>T)
c.304+10G>T
c.7057+10G>T (n.7057+10G>T)
c.64+935G>T
n.335+10G>T
c.6912+10G>T (n.6912+10G>T)
c.6888+10G>T (n.6888+10G>T)
c.6948+10G>T (n.6948+10G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338816T>ACA2580093176NF1c.6903+11T>A (n.6903+11T>A)
c.1485+11T>A (n.1485+11T>A)
n.2754T>A
c.1077+11T>A (n.1077+11T>A)
n.3566+11T>A
c.6951+11T>A (n.6951+11T>A)
c.6921+11T>A (n.6921+11T>A)
c.6858+11T>A (n.6858+11T>A)
c.5856+11T>A (n.5856+11T>A)
c.304+11T>A
c.7057+11T>A (n.7057+11T>A)
c.64+936T>A
n.335+11T>A
c.6912+11T>A (n.6912+11T>A)
c.6888+11T>A (n.6888+11T>A)
c.6948+11T>A (n.6948+11T>A)
 ClinVar dbSNP
17g.31338816T>CCA2573153884NF1c.6903+11T>C (n.6903+11T>C)
c.1485+11T>C (n.1485+11T>C)
n.2754T>C
c.1077+11T>C (n.1077+11T>C)
n.3566+11T>C
c.6951+11T>C (n.6951+11T>C)
c.6921+11T>C (n.6921+11T>C)
c.6858+11T>C (n.6858+11T>C)
c.5856+11T>C (n.5856+11T>C)
c.304+11T>C
c.7057+11T>C (n.7057+11T>C)
c.64+936T>C
n.335+11T>C
c.6912+11T>C (n.6912+11T>C)
c.6888+11T>C (n.6888+11T>C)
c.6948+11T>C (n.6948+11T>C)
 ClinVar dbSNP gnomAD v4
17g.31338817A=CA2255603182NF1c.6903+12A= (n.6903+12A=)
c.1485+12A= (n.1485+12A=)
n.2755A=
c.1077+12A= (n.1077+12A=)
n.3566+12A=
c.6951+12A= (n.6951+12A=)
c.6921+12A= (n.6921+12A=)
c.6858+12A= (n.6858+12A=)
c.5856+12A= (n.5856+12A=)
c.304+12A=
c.7057+12A= (n.7057+12A=)
c.64+937A=
n.335+12A=
c.6912+12A= (n.6912+12A=)
c.6888+12A= (n.6888+12A=)
c.6948+12A= (n.6948+12A=)
17g.31338817A>GCA625472000NF1c.6903+12A>G (n.6903+12A>G)
c.1485+12A>G (n.1485+12A>G)
n.2755A>G
c.1077+12A>G (n.1077+12A>G)
n.3566+12A>G
c.6951+12A>G (n.6951+12A>G)
c.6921+12A>G (n.6921+12A>G)
c.6858+12A>G (n.6858+12A>G)
c.5856+12A>G (n.5856+12A>G)
c.304+12A>G
c.7057+12A>G (n.7057+12A>G)
c.64+937A>G
n.335+12A>G
c.6912+12A>G (n.6912+12A>G)
c.6888+12A>G (n.6888+12A>G)
c.6948+12A>G (n.6948+12A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338817A>TCA625472001NF1c.6903+12A>T (n.6903+12A>T)
c.1485+12A>T (n.1485+12A>T)
n.2755A>T
c.1077+12A>T (n.1077+12A>T)
n.3566+12A>T
c.6951+12A>T (n.6951+12A>T)
c.6921+12A>T (n.6921+12A>T)
c.6858+12A>T (n.6858+12A>T)
c.5856+12A>T (n.5856+12A>T)
c.304+12A>T
c.7057+12A>T (n.7057+12A>T)
c.64+937A>T
n.335+12A>T
c.6912+12A>T (n.6912+12A>T)
c.6888+12A>T (n.6888+12A>T)
c.6948+12A>T (n.6948+12A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338818T>CCA2580093177NF1c.6903+13T>C (n.6903+13T>C)
c.1485+13T>C (n.1485+13T>C)
n.2756T>C
c.1077+13T>C (n.1077+13T>C)
n.3566+13T>C
c.6951+13T>C (n.6951+13T>C)
c.6921+13T>C (n.6921+13T>C)
c.6858+13T>C (n.6858+13T>C)
c.5856+13T>C (n.5856+13T>C)
c.304+13T>C
c.7057+13T>C (n.7057+13T>C)
c.64+938T>C
n.335+13T>C
c.6912+13T>C (n.6912+13T>C)
c.6888+13T>C (n.6888+13T>C)
c.6948+13T>C (n.6948+13T>C)
 ClinVar
17g.31338819A>GCA2580093178NF1c.6903+14A>G (n.6903+14A>G)
c.1485+14A>G (n.1485+14A>G)
n.2757A>G
c.1077+14A>G (n.1077+14A>G)
n.3566+14A>G
c.6951+14A>G (n.6951+14A>G)
c.6921+14A>G (n.6921+14A>G)
c.6858+14A>G (n.6858+14A>G)
c.5856+14A>G (n.5856+14A>G)
c.304+14A>G
c.7057+14A>G (n.7057+14A>G)
c.64+939A>G
n.335+14A>G
c.6912+14A>G (n.6912+14A>G)
c.6888+14A>G (n.6888+14A>G)
c.6948+14A>G (n.6948+14A>G)
 ClinVar
17g.31338820G>ACA289388554NF1c.6903+15G>A (n.6903+15G>A)
c.1485+15G>A (n.1485+15G>A)
n.2758G>A
c.1077+15G>A (n.1077+15G>A)
n.3566+15G>A
c.6951+15G>A (n.6951+15G>A)
c.6921+15G>A (n.6921+15G>A)
c.6858+15G>A (n.6858+15G>A)
c.5856+15G>A (n.5856+15G>A)
c.304+15G>A
c.7057+15G>A (n.7057+15G>A)
c.64+940G>A
n.335+15G>A
c.6912+15G>A (n.6912+15G>A)
c.6888+15G>A (n.6888+15G>A)
c.6948+15G>A (n.6948+15G>A)
 dbSNP gnomAD v4
17g.31338820G=CA2255603183NF1c.6903+15G= (n.6903+15G=)
c.1485+15G= (n.1485+15G=)
n.2758G=
c.1077+15G= (n.1077+15G=)
n.3566+15G=
c.6951+15G= (n.6951+15G=)
c.6921+15G= (n.6921+15G=)
c.6858+15G= (n.6858+15G=)
c.5856+15G= (n.5856+15G=)
c.304+15G=
c.7057+15G= (n.7057+15G=)
c.64+940G=
n.335+15G=
c.6912+15G= (n.6912+15G=)
c.6888+15G= (n.6888+15G=)
c.6948+15G= (n.6948+15G=)
17g.31338820G>TCA2697559638NF1c.6903+15G>T (n.6903+15G>T)
c.1485+15G>T (n.1485+15G>T)
n.2758G>T
c.1077+15G>T (n.1077+15G>T)
n.3566+15G>T
c.6951+15G>T (n.6951+15G>T)
c.6921+15G>T (n.6921+15G>T)
c.6858+15G>T (n.6858+15G>T)
c.5856+15G>T (n.5856+15G>T)
c.304+15G>T
c.7057+15G>T (n.7057+15G>T)
c.64+940G>T
n.335+15G>T
c.6912+15G>T (n.6912+15G>T)
c.6888+15G>T (n.6888+15G>T)
c.6948+15G>T (n.6948+15G>T)
 ClinVar
17g.31338822A>GCA2576223765NF1c.6903+17A>G (n.6903+17A>G)
c.1485+17A>G (n.1485+17A>G)
n.2760A>G
c.1077+17A>G (n.1077+17A>G)
n.3566+17A>G
c.6951+17A>G (n.6951+17A>G)
c.6921+17A>G (n.6921+17A>G)
c.6858+17A>G (n.6858+17A>G)
c.5856+17A>G (n.5856+17A>G)
c.304+17A>G
c.7057+17A>G (n.7057+17A>G)
c.64+942A>G
n.335+17A>G
c.6912+17A>G (n.6912+17A>G)
c.6888+17A>G (n.6888+17A>G)
c.6948+17A>G (n.6948+17A>G)
 dbSNP
17g.31338823A=CA2255603184NF1c.6903+18A= (n.6903+18A=)
c.1485+18A= (n.1485+18A=)
n.2761A=
c.1077+18A= (n.1077+18A=)
n.3566+18A=
c.6951+18A= (n.6951+18A=)
c.6921+18A= (n.6921+18A=)
c.6858+18A= (n.6858+18A=)
c.5856+18A= (n.5856+18A=)
c.304+18A=
c.7057+18A= (n.7057+18A=)
c.64+943A=
n.335+18A=
c.6912+18A= (n.6912+18A=)
c.6888+18A= (n.6888+18A=)
c.6948+18A= (n.6948+18A=)
17g.31338823A>CCA625472002NF1c.6903+18A>C (n.6903+18A>C)
c.1485+18A>C (n.1485+18A>C)
n.2761A>C
c.1077+18A>C (n.1077+18A>C)
n.3566+18A>C
c.6951+18A>C (n.6951+18A>C)
c.6921+18A>C (n.6921+18A>C)
c.6858+18A>C (n.6858+18A>C)
c.5856+18A>C (n.5856+18A>C)
c.304+18A>C
c.7057+18A>C (n.7057+18A>C)
c.64+943A>C
n.335+18A>C
c.6912+18A>C (n.6912+18A>C)
c.6888+18A>C (n.6888+18A>C)
c.6948+18A>C (n.6948+18A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.31338823A>GCA2580093179NF1c.6903+18A>G (n.6903+18A>G)
c.1485+18A>G (n.1485+18A>G)
n.2761A>G
c.1077+18A>G (n.1077+18A>G)
n.3566+18A>G
c.6951+18A>G (n.6951+18A>G)
c.6921+18A>G (n.6921+18A>G)
c.6858+18A>G (n.6858+18A>G)
c.5856+18A>G (n.5856+18A>G)
c.304+18A>G
c.7057+18A>G (n.7057+18A>G)
c.64+943A>G
n.335+18A>G
c.6912+18A>G (n.6912+18A>G)
c.6888+18A>G (n.6888+18A>G)
c.6948+18A>G (n.6948+18A>G)
 ClinVar
17g.31338824A=CA2255603185NF1c.6903+19A= (n.6903+19A=)
c.1485+19A= (n.1485+19A=)
n.2762A=
c.1077+19A= (n.1077+19A=)
n.3566+19A=
c.6951+19A= (n.6951+19A=)
c.6921+19A= (n.6921+19A=)
c.6858+19A= (n.6858+19A=)
c.5856+19A= (n.5856+19A=)
c.304+19A=
c.7057+19A= (n.7057+19A=)
c.64+944A=
n.335+19A=
c.6912+19A= (n.6912+19A=)
c.6888+19A= (n.6888+19A=)
c.6948+19A= (n.6948+19A=)
17g.31338824A>GCA625472003NF1c.6903+19A>G (n.6903+19A>G)
c.1485+19A>G (n.1485+19A>G)
n.2762A>G
c.1077+19A>G (n.1077+19A>G)
n.3566+19A>G
c.6951+19A>G (n.6951+19A>G)
c.6921+19A>G (n.6921+19A>G)
c.6858+19A>G (n.6858+19A>G)
c.5856+19A>G (n.5856+19A>G)
c.304+19A>G
c.7057+19A>G (n.7057+19A>G)
c.64+944A>G
n.335+19A>G
c.6912+19A>G (n.6912+19A>G)
c.6888+19A>G (n.6888+19A>G)
c.6948+19A>G (n.6948+19A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31338825dupCA2697559640NF1c.6903+20dup (n.6903+20dup)
c.1485+20dup (n.1485+20dup)
n.2763dup
c.1077+20dup (n.1077+20dup)
n.3566+20dup
c.6951+20dup (n.6951+20dup)
c.6921+20dup (n.6921+20dup)
c.6858+20dup (n.6858+20dup)
c.5856+20dup (n.5856+20dup)
c.304+20dup
c.7057+20dup (n.7057+20dup)
c.64+945dup
n.335+20dup
c.6912+20dup (n.6912+20dup)
c.6888+20dup (n.6888+20dup)
c.6948+20dup (n.6948+20dup)
 ClinVar
17g.31338826G>ACA2733237278NF1c.6903+21G>A (n.6903+21G>A)
c.1485+21G>A (n.1485+21G>A)
n.2764G>A
c.1077+21G>A (n.1077+21G>A)
n.3566+21G>A
c.6951+21G>A (n.6951+21G>A)
c.6921+21G>A (n.6921+21G>A)
c.6858+21G>A (n.6858+21G>A)
c.5856+21G>A (n.5856+21G>A)
c.304+21G>A
c.7057+21G>A (n.7057+21G>A)
c.64+946G>A
n.335+21G>A
c.6912+21G>A (n.6912+21G>A)
c.6888+21G>A (n.6888+21G>A)
c.6948+21G>A (n.6948+21G>A)
 dbSNP
17g.31338826G>CCA2733237276NF1c.6903+21G>C (n.6903+21G>C)
c.1485+21G>C (n.1485+21G>C)
n.2764G>C
c.1077+21G>C (n.1077+21G>C)
n.3566+21G>C
c.6951+21G>C (n.6951+21G>C)
c.6921+21G>C (n.6921+21G>C)
c.6858+21G>C (n.6858+21G>C)
c.5856+21G>C (n.5856+21G>C)
c.304+21G>C
c.7057+21G>C (n.7057+21G>C)
c.64+946G>C
n.335+21G>C
c.6912+21G>C (n.6912+21G>C)
c.6888+21G>C (n.6888+21G>C)
c.6948+21G>C (n.6948+21G>C)
 dbSNP
17g.31338826G=CA2255603186NF1c.6903+21G= (n.6903+21G=)
c.1485+21G= (n.1485+21G=)
n.2764G=
c.1077+21G= (n.1077+21G=)
n.3566+21G=
c.6951+21G= (n.6951+21G=)
c.6921+21G= (n.6921+21G=)
c.6858+21G= (n.6858+21G=)
c.5856+21G= (n.5856+21G=)
c.304+21G=
c.7057+21G= (n.7057+21G=)
c.64+946G=
n.335+21G=
c.6912+21G= (n.6912+21G=)
c.6888+21G= (n.6888+21G=)
c.6948+21G= (n.6948+21G=)
17g.31338826G>TCA625472004NF1c.6903+21G>T (n.6903+21G>T)
c.1485+21G>T (n.1485+21G>T)
n.2764G>T
c.1077+21G>T (n.1077+21G>T)
n.3566+21G>T
c.6951+21G>T (n.6951+21G>T)
c.6921+21G>T (n.6921+21G>T)
c.6858+21G>T (n.6858+21G>T)
c.5856+21G>T (n.5856+21G>T)
c.304+21G>T
c.7057+21G>T (n.7057+21G>T)
c.64+946G>T
n.335+21G>T
c.6912+21G>T (n.6912+21G>T)
c.6888+21G>T (n.6888+21G>T)
c.6948+21G>T (n.6948+21G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.31338827A=CA2255603187NF1c.6903+22A= (n.6903+22A=)
c.1485+22A= (n.1485+22A=)
n.2765A=
c.1077+22A= (n.1077+22A=)
n.3566+22A=
c.6951+22A= (n.6951+22A=)
c.6921+22A= (n.6921+22A=)
c.6858+22A= (n.6858+22A=)
c.5856+22A= (n.5856+22A=)
c.304+22A=
c.7057+22A= (n.7057+22A=)
c.64+947A=
n.335+22A=
c.6912+22A= (n.6912+22A=)
c.6888+22A= (n.6888+22A=)
c.6948+22A= (n.6948+22A=)
17g.31338827A>GCA8487452NF1c.6903+22A>G (n.6903+22A>G)
c.1485+22A>G (n.1485+22A>G)
n.2765A>G
c.1077+22A>G (n.1077+22A>G)
n.3566+22A>G
c.6951+22A>G (n.6951+22A>G)
c.6921+22A>G (n.6921+22A>G)
c.6858+22A>G (n.6858+22A>G)
c.5856+22A>G (n.5856+22A>G)
c.304+22A>G
c.7057+22A>G (n.7057+22A>G)
c.64+947A>G
n.335+22A>G
c.6912+22A>G (n.6912+22A>G)
c.6888+22A>G (n.6888+22A>G)
c.6948+22A>G (n.6948+22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338828G>ACA2576223767NF1c.6903+23G>A (n.6903+23G>A)
c.1485+23G>A (n.1485+23G>A)
n.2766G>A
c.1077+23G>A (n.1077+23G>A)
n.3566+23G>A
c.6951+23G>A (n.6951+23G>A)
c.6921+23G>A (n.6921+23G>A)
c.6858+23G>A (n.6858+23G>A)
c.5856+23G>A (n.5856+23G>A)
c.304+23G>A
c.7057+23G>A (n.7057+23G>A)
c.64+948G>A
n.335+23G>A
c.6912+23G>A (n.6912+23G>A)
c.6888+23G>A (n.6888+23G>A)
c.6948+23G>A (n.6948+23G>A)
 dbSNP gnomAD v4
17g.31338828G>CCA2733616708NF1c.6903+23G>C (n.6903+23G>C)
c.1485+23G>C (n.1485+23G>C)
n.2766G>C
c.1077+23G>C (n.1077+23G>C)
n.3566+23G>C
c.6951+23G>C (n.6951+23G>C)
c.6921+23G>C (n.6921+23G>C)
c.6858+23G>C (n.6858+23G>C)
c.5856+23G>C (n.5856+23G>C)
c.304+23G>C
c.7057+23G>C (n.7057+23G>C)
c.64+948G>C
n.335+23G>C
c.6912+23G>C (n.6912+23G>C)
c.6888+23G>C (n.6888+23G>C)
c.6948+23G>C (n.6948+23G>C)
 dbSNP
17g.31338828G>TCA2576223768NF1c.6903+23G>T (n.6903+23G>T)
c.1485+23G>T (n.1485+23G>T)
n.2766G>T
c.1077+23G>T (n.1077+23G>T)
n.3566+23G>T
c.6951+23G>T (n.6951+23G>T)
c.6921+23G>T (n.6921+23G>T)
c.6858+23G>T (n.6858+23G>T)
c.5856+23G>T (n.5856+23G>T)
c.304+23G>T
c.7057+23G>T (n.7057+23G>T)
c.64+948G>T
n.335+23G>T
c.6912+23G>T (n.6912+23G>T)
c.6888+23G>T (n.6888+23G>T)
c.6948+23G>T (n.6948+23G>T)
 gnomAD v4
17g.31338829T>ACA625472005NF1c.6903+24T>A (n.6903+24T>A)
c.1485+24T>A (n.1485+24T>A)
n.2767T>A
c.1077+24T>A (n.1077+24T>A)
n.3566+24T>A
c.6951+24T>A (n.6951+24T>A)
c.6921+24T>A (n.6921+24T>A)
c.6858+24T>A (n.6858+24T>A)
c.5856+24T>A (n.5856+24T>A)
c.304+24T>A
c.7057+24T>A (n.7057+24T>A)
c.64+949T>A
n.335+24T>A
c.6912+24T>A (n.6912+24T>A)
c.6888+24T>A (n.6888+24T>A)
c.6948+24T>A (n.6948+24T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31338829T>CCA2733228676NF1c.6903+24T>C (n.6903+24T>C)
c.1485+24T>C (n.1485+24T>C)
n.2767T>C
c.1077+24T>C (n.1077+24T>C)
n.3566+24T>C
c.6951+24T>C (n.6951+24T>C)
c.6921+24T>C (n.6921+24T>C)
c.6858+24T>C (n.6858+24T>C)
c.5856+24T>C (n.5856+24T>C)
c.304+24T>C
c.7057+24T>C (n.7057+24T>C)
c.64+949T>C
n.335+24T>C
c.6912+24T>C (n.6912+24T>C)
c.6888+24T>C (n.6888+24T>C)
c.6948+24T>C (n.6948+24T>C)
 dbSNP
17g.31338829T>GCA2733228677NF1c.6903+24T>G (n.6903+24T>G)
c.1485+24T>G (n.1485+24T>G)
n.2767T>G
c.1077+24T>G (n.1077+24T>G)
n.3566+24T>G
c.6951+24T>G (n.6951+24T>G)
c.6921+24T>G (n.6921+24T>G)
c.6858+24T>G (n.6858+24T>G)
c.5856+24T>G (n.5856+24T>G)
c.304+24T>G
c.7057+24T>G (n.7057+24T>G)
c.64+949T>G
n.335+24T>G
c.6912+24T>G (n.6912+24T>G)
c.6888+24T>G (n.6888+24T>G)
c.6948+24T>G (n.6948+24T>G)
 dbSNP
17g.31338829T=CA2255603188NF1c.6903+24T= (n.6903+24T=)
c.1485+24T= (n.1485+24T=)
n.2767T=
c.1077+24T= (n.1077+24T=)
n.3566+24T=
c.6951+24T= (n.6951+24T=)
c.6921+24T= (n.6921+24T=)
c.6858+24T= (n.6858+24T=)
c.5856+24T= (n.5856+24T=)
c.304+24T=
c.7057+24T= (n.7057+24T=)
c.64+949T=
n.335+24T=
c.6912+24T= (n.6912+24T=)
c.6888+24T= (n.6888+24T=)
c.6948+24T= (n.6948+24T=)
17g.31338830G>TCA2637079084NF1c.6903+25G>T (n.6903+25G>T)
c.1485+25G>T (n.1485+25G>T)
n.2768G>T
c.1077+25G>T (n.1077+25G>T)
n.3566+25G>T
c.6951+25G>T (n.6951+25G>T)
c.6921+25G>T (n.6921+25G>T)
c.6858+25G>T (n.6858+25G>T)
c.5856+25G>T (n.5856+25G>T)
c.304+25G>T
c.7057+25G>T (n.7057+25G>T)
c.64+950G>T
n.335+25G>T
c.6912+25G>T (n.6912+25G>T)
c.6888+25G>T (n.6888+25G>T)
c.6948+25G>T (n.6948+25G>T)
 gnomAD v4
17g.31338831C>ACA2637079085NF1c.6903+26C>A (n.6903+26C>A)
c.1485+26C>A (n.1485+26C>A)
n.2769C>A
c.1077+26C>A (n.1077+26C>A)
n.3566+26C>A
c.6951+26C>A (n.6951+26C>A)
c.6921+26C>A (n.6921+26C>A)
c.6858+26C>A (n.6858+26C>A)
c.5856+26C>A (n.5856+26C>A)
c.304+26C>A
c.7057+26C>A (n.7057+26C>A)
c.64+951C>A
n.335+26C>A
c.6912+26C>A (n.6912+26C>A)
c.6888+26C>A (n.6888+26C>A)
c.6948+26C>A (n.6948+26C>A)
 gnomAD v4
17g.31338831C>GCA2733616713NF1c.6903+26C>G (n.6903+26C>G)
c.1485+26C>G (n.1485+26C>G)
n.2769C>G
c.1077+26C>G (n.1077+26C>G)
n.3566+26C>G
c.6951+26C>G (n.6951+26C>G)
c.6921+26C>G (n.6921+26C>G)
c.6858+26C>G (n.6858+26C>G)
c.5856+26C>G (n.5856+26C>G)
c.304+26C>G
c.7057+26C>G (n.7057+26C>G)
c.64+951C>G
n.335+26C>G
c.6912+26C>G (n.6912+26C>G)
c.6888+26C>G (n.6888+26C>G)
c.6948+26C>G (n.6948+26C>G)
 dbSNP
17g.31338831C>TCA2733616711NF1c.6903+26C>T (n.6903+26C>T)
c.1485+26C>T (n.1485+26C>T)
n.2769C>T
c.1077+26C>T (n.1077+26C>T)
n.3566+26C>T
c.6951+26C>T (n.6951+26C>T)
c.6921+26C>T (n.6921+26C>T)
c.6858+26C>T (n.6858+26C>T)
c.5856+26C>T (n.5856+26C>T)
c.304+26C>T
c.7057+26C>T (n.7057+26C>T)
c.64+951C>T
n.335+26C>T
c.6912+26C>T (n.6912+26C>T)
c.6888+26C>T (n.6888+26C>T)
c.6948+26C>T (n.6948+26C>T)
 dbSNP
17g.31338832A=CA2255603189NF1c.6903+27A= (n.6903+27A=)
c.1485+27A= (n.1485+27A=)
n.2770A=
c.1077+27A= (n.1077+27A=)
n.3566+27A=
c.6951+27A= (n.6951+27A=)
c.6921+27A= (n.6921+27A=)
c.6858+27A= (n.6858+27A=)
c.5856+27A= (n.5856+27A=)
c.304+27A=
c.7057+27A= (n.7057+27A=)
c.64+952A=
n.335+27A=
c.6912+27A= (n.6912+27A=)
c.6888+27A= (n.6888+27A=)
c.6948+27A= (n.6948+27A=)
17g.31338832A>GCA8487453NF1c.6903+27A>G (n.6903+27A>G)
c.1485+27A>G (n.1485+27A>G)
n.2770A>G
c.1077+27A>G (n.1077+27A>G)
n.3566+27A>G
c.6951+27A>G (n.6951+27A>G)
c.6921+27A>G (n.6921+27A>G)
c.6858+27A>G (n.6858+27A>G)
c.5856+27A>G (n.5856+27A>G)
c.304+27A>G
c.7057+27A>G (n.7057+27A>G)
c.64+952A>G
n.335+27A>G
c.6912+27A>G (n.6912+27A>G)
c.6888+27A>G (n.6888+27A>G)
c.6948+27A>G (n.6948+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338833T>CCA2576223771NF1c.6903+28T>C (n.6903+28T>C)
c.1485+28T>C (n.1485+28T>C)
n.2771T>C
c.1077+28T>C (n.1077+28T>C)
n.3566+28T>C
c.6951+28T>C (n.6951+28T>C)
c.6921+28T>C (n.6921+28T>C)
c.6858+28T>C (n.6858+28T>C)
c.5856+28T>C (n.5856+28T>C)
c.304+28T>C
c.7057+28T>C (n.7057+28T>C)
c.64+953T>C
n.335+28T>C
c.6912+28T>C (n.6912+28T>C)
c.6888+28T>C (n.6888+28T>C)
c.6948+28T>C (n.6948+28T>C)
 gnomAD v4
17g.31338834T>CCA289388591NF1c.6903+29T>C (n.6903+29T>C)
c.1485+29T>C (n.1485+29T>C)
n.2772T>C
c.1077+29T>C (n.1077+29T>C)
n.3566+29T>C
c.6951+29T>C (n.6951+29T>C)
c.6921+29T>C (n.6921+29T>C)
c.6858+29T>C (n.6858+29T>C)
c.5856+29T>C (n.5856+29T>C)
c.304+29T>C
c.7057+29T>C (n.7057+29T>C)
c.64+954T>C
n.335+29T>C
c.6912+29T>C (n.6912+29T>C)
c.6888+29T>C (n.6888+29T>C)
c.6948+29T>C (n.6948+29T>C)
 dbSNP
17g.31338834T=CA2255603190NF1c.6903+29T= (n.6903+29T=)
c.1485+29T= (n.1485+29T=)
n.2772T=
c.1077+29T= (n.1077+29T=)
n.3566+29T=
c.6951+29T= (n.6951+29T=)
c.6921+29T= (n.6921+29T=)
c.6858+29T= (n.6858+29T=)
c.5856+29T= (n.5856+29T=)
c.304+29T=
c.7057+29T= (n.7057+29T=)
c.64+954T=
n.335+29T=
c.6912+29T= (n.6912+29T=)
c.6888+29T= (n.6888+29T=)
c.6948+29T= (n.6948+29T=)
17g.31338835delCA2637079094NF1c.6903+30del (n.6903+30del)
c.1485+30del (n.1485+30del)
n.2773del
c.1077+30del (n.1077+30del)
n.3566+30del
c.6951+30del (n.6951+30del)
c.6921+30del (n.6921+30del)
c.6858+30del (n.6858+30del)
c.5856+30del (n.5856+30del)
c.304+30del
c.7057+30del (n.7057+30del)
c.64+955del
n.335+30del
c.6912+30del (n.6912+30del)
c.6888+30del (n.6888+30del)
c.6948+30del (n.6948+30del)
 gnomAD v4
17g.31338835C>ACA2637079097NF1c.6903+30C>A (n.6903+30C>A)
c.1485+30C>A (n.1485+30C>A)
n.2773C>A
c.1077+30C>A (n.1077+30C>A)
n.3566+30C>A
c.6951+30C>A (n.6951+30C>A)
c.6921+30C>A (n.6921+30C>A)
c.6858+30C>A (n.6858+30C>A)
c.5856+30C>A (n.5856+30C>A)
c.304+30C>A
c.7057+30C>A (n.7057+30C>A)
c.64+955C>A
n.335+30C>A
c.6912+30C>A (n.6912+30C>A)
c.6888+30C>A (n.6888+30C>A)
c.6948+30C>A (n.6948+30C>A)
 gnomAD v4
17g.31338835C=CA2255603191NF1c.6903+30C= (n.6903+30C=)
c.1485+30C= (n.1485+30C=)
n.2773C=
c.1077+30C= (n.1077+30C=)
n.3566+30C=
c.6951+30C= (n.6951+30C=)
c.6921+30C= (n.6921+30C=)
c.6858+30C= (n.6858+30C=)
c.5856+30C= (n.5856+30C=)
c.304+30C=
c.7057+30C= (n.7057+30C=)
c.64+955C=
n.335+30C=
c.6912+30C= (n.6912+30C=)
c.6888+30C= (n.6888+30C=)
c.6948+30C= (n.6948+30C=)
17g.31338835C>GCA2733210540NF1c.6903+30C>G (n.6903+30C>G)
c.1485+30C>G (n.1485+30C>G)
n.2773C>G
c.1077+30C>G (n.1077+30C>G)
n.3566+30C>G
c.6951+30C>G (n.6951+30C>G)
c.6921+30C>G (n.6921+30C>G)
c.6858+30C>G (n.6858+30C>G)
c.5856+30C>G (n.5856+30C>G)
c.304+30C>G
c.7057+30C>G (n.7057+30C>G)
c.64+955C>G
n.335+30C>G
c.6912+30C>G (n.6912+30C>G)
c.6888+30C>G (n.6888+30C>G)
c.6948+30C>G (n.6948+30C>G)
 dbSNP
17g.31338835C>TCA8487454NF1c.6903+30C>T (n.6903+30C>T)
c.1485+30C>T (n.1485+30C>T)
n.2773C>T
c.1077+30C>T (n.1077+30C>T)
n.3566+30C>T
c.6951+30C>T (n.6951+30C>T)
c.6921+30C>T (n.6921+30C>T)
c.6858+30C>T (n.6858+30C>T)
c.5856+30C>T (n.5856+30C>T)
c.304+30C>T
c.7057+30C>T (n.7057+30C>T)
c.64+955C>T
n.335+30C>T
c.6912+30C>T (n.6912+30C>T)
c.6888+30C>T (n.6888+30C>T)
c.6948+30C>T (n.6948+30C>T)
 dbSNP ExAC gnomAD v2
17g.31338837T>ACA2637079122NF1c.6903+32T>A (n.6903+32T>A)
c.1485+32T>A (n.1485+32T>A)
n.2775T>A
c.1077+32T>A (n.1077+32T>A)
n.3566+32T>A
c.6951+32T>A (n.6951+32T>A)
c.6921+32T>A (n.6921+32T>A)
c.6858+32T>A (n.6858+32T>A)
c.5856+32T>A (n.5856+32T>A)
c.304+32T>A
c.7057+32T>A (n.7057+32T>A)
c.64+957T>A
n.335+32T>A
c.6912+32T>A (n.6912+32T>A)
c.6888+32T>A (n.6888+32T>A)
c.6948+32T>A (n.6948+32T>A)
 gnomAD v4
17g.31338838T>ACA2637079123NF1c.6903+33T>A (n.6903+33T>A)
c.1485+33T>A (n.1485+33T>A)
n.2776T>A
c.1077+33T>A (n.1077+33T>A)
n.3566+33T>A
c.6951+33T>A (n.6951+33T>A)
c.6921+33T>A (n.6921+33T>A)
c.6858+33T>A (n.6858+33T>A)
c.5856+33T>A (n.5856+33T>A)
c.304+33T>A
c.7057+33T>A (n.7057+33T>A)
c.64+958T>A
n.335+33T>A
c.6912+33T>A (n.6912+33T>A)
c.6888+33T>A (n.6888+33T>A)
c.6948+33T>A (n.6948+33T>A)
 gnomAD v4
17g.31338839T>ACA2733360677NF1c.6903+34T>A (n.6903+34T>A)
c.1485+34T>A (n.1485+34T>A)
n.2777T>A
c.1077+34T>A (n.1077+34T>A)
n.3566+34T>A
c.6951+34T>A (n.6951+34T>A)
c.6921+34T>A (n.6921+34T>A)
c.6858+34T>A (n.6858+34T>A)
c.5856+34T>A (n.5856+34T>A)
c.304+34T>A
c.7057+34T>A (n.7057+34T>A)
c.64+959T>A
n.335+34T>A
c.6912+34T>A (n.6912+34T>A)
c.6888+34T>A (n.6888+34T>A)
c.6948+34T>A (n.6948+34T>A)
 dbSNP
17g.31338839T>CCA2255603193NF1c.6903+34T>C (n.6903+34T>C)
c.1485+34T>C (n.1485+34T>C)
n.2777T>C
c.1077+34T>C (n.1077+34T>C)
n.3566+34T>C
c.6951+34T>C (n.6951+34T>C)
c.6921+34T>C (n.6921+34T>C)
c.6858+34T>C (n.6858+34T>C)
c.5856+34T>C (n.5856+34T>C)
c.304+34T>C
c.7057+34T>C (n.7057+34T>C)
c.64+959T>C
n.335+34T>C
c.6912+34T>C (n.6912+34T>C)
c.6888+34T>C (n.6888+34T>C)
c.6948+34T>C (n.6948+34T>C)
 dbSNP gnomAD v4
17g.31338839T=CA2255603192NF1c.6903+34T= (n.6903+34T=)
c.1485+34T= (n.1485+34T=)
n.2777T=
c.1077+34T= (n.1077+34T=)
n.3566+34T=
c.6951+34T= (n.6951+34T=)
c.6921+34T= (n.6921+34T=)
c.6858+34T= (n.6858+34T=)
c.5856+34T= (n.5856+34T=)
c.304+34T=
c.7057+34T= (n.7057+34T=)
c.64+959T=
n.335+34T=
c.6912+34T= (n.6912+34T=)
c.6888+34T= (n.6888+34T=)
c.6948+34T= (n.6948+34T=)

Number of alleles fetched