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.31338033delCA2695225163NF1c.6695del (p.Phe2232SerfsTer27)
c.1277del (p.Phe426SerfsTer27)
n.1971del
c.869del (p.Phe290SerfsTer27)
n.3358del
c.6743del (p.Phe2248SerfsTer27)
c.6713del (p.Phe2238SerfsTer27)
c.6650del (p.Phe2217SerfsTer27)
c.5648del (p.Phe1883SerfsTer27)
c.96del
c.6849del (n.6849del)
c.64+153del
n.127del
c.6704del (p.Phe2235SerfsTer27)
c.6680del (p.Phe2227SerfsTer27)
c.6740del (p.Phe2247SerfsTer27)
 ClinVar
17g.31338032_31338035delinsTTCCCA2255602823NF1c.6694_6697delinsTTCC (p.Phe2232=)
c.1276_1279delinsTTCC (p.Phe426=)
n.1970_1973delinsTTCC
c.868_871delinsTTCC (p.Phe290=)
n.3357_3360delinsTTCC
c.6742_6745delinsTTCC (p.Phe2248=)
c.6712_6715delinsTTCC (p.Phe2238=)
c.6649_6652delinsTTCC (p.Phe2217=)
c.5647_5650delinsTTCC (p.Phe1883=)
c.95_98delinsTTCC
c.6848_6851delinsTTCC (n.6848_6851delinsTTCC)
c.64+152_64+155delinsTTCC
n.126_129delinsTTCC
c.6703_6706delinsTTCC (p.Phe2235=)
c.6679_6682delinsTTCC (p.Phe2227=)
c.6739_6742delinsTTCC (p.Phe2247=)
17g.31338033T>ACA399013995NF1c.6695T>A (p.Phe2232Tyr)
c.1277T>A (p.Phe426Tyr)
n.1971T>A
c.869T>A (p.Phe290Tyr)
n.3358T>A
c.6743T>A (p.Phe2248Tyr)
c.6713T>A (p.Phe2238Tyr)
c.6650T>A (p.Phe2217Tyr)
c.5648T>A (p.Phe1883Tyr)
c.96T>A
c.6849T>A (n.6849T>A)
c.64+153T>A
n.127T>A
c.6704T>A (p.Phe2235Tyr)
c.6680T>A (p.Phe2227Tyr)
c.6740T>A (p.Phe2247Tyr)
17g.31338033T>CCA399013993NF1c.6695T>C (p.Phe2232Ser)
c.1277T>C (p.Phe426Ser)
n.1971T>C
c.869T>C (p.Phe290Ser)
n.3358T>C
c.6743T>C (p.Phe2248Ser)
c.6713T>C (p.Phe2238Ser)
c.6650T>C (p.Phe2217Ser)
c.5648T>C (p.Phe1883Ser)
c.96T>C
c.6849T>C (n.6849T>C)
c.64+153T>C
n.127T>C
c.6704T>C (p.Phe2235Ser)
c.6680T>C (p.Phe2227Ser)
c.6740T>C (p.Phe2247Ser)
 ClinVar dbSNP
17g.31338033T>GCA399013994NF1c.6695T>G (p.Phe2232Cys)
c.1277T>G (p.Phe426Cys)
n.1971T>G
c.869T>G (p.Phe290Cys)
n.3358T>G
c.6743T>G (p.Phe2248Cys)
c.6713T>G (p.Phe2238Cys)
c.6650T>G (p.Phe2217Cys)
c.5648T>G (p.Phe1883Cys)
c.96T>G
c.6849T>G (n.6849T>G)
c.64+153T>G
n.127T>G
c.6704T>G (p.Phe2235Cys)
c.6680T>G (p.Phe2227Cys)
c.6740T>G (p.Phe2247Cys)
17g.31338033T=CA2255602824NF1c.6695T= (p.Phe2232=)
c.1277T= (p.Phe426=)
n.1971T=
c.869T= (p.Phe290=)
n.3358T=
c.6743T= (p.Phe2248=)
c.6713T= (p.Phe2238=)
c.6650T= (p.Phe2217=)
c.5648T= (p.Phe1883=)
c.96T=
c.6849T= (n.6849T=)
c.64+153T=
n.127T=
c.6704T= (p.Phe2235=)
c.6680T= (p.Phe2227=)
c.6740T= (p.Phe2247=)
17g.31338033_31338035delCA658658589NF1c.6695_6697del (p.Phe2232Ter)
c.1277_1279del (p.Phe426Ter)
n.1971_1973del
c.869_871del (p.Phe290Ter)
n.3358_3360del
c.6743_6745del (p.Phe2248Ter)
c.6713_6715del (p.Phe2238Ter)
c.6650_6652del (p.Phe2217Ter)
c.5648_5650del (p.Phe1883Ter)
c.96_98del
c.6849_6851del (n.6849_6851del)
c.64+153_64+155del
n.127_129del
c.6704_6706del (p.Phe2235Ter)
c.6680_6682del (p.Phe2227Ter)
c.6740_6742del (p.Phe2247Ter)
 ClinVar dbSNP
17g.31338036_31338049delCA2580093135NF1c.6698_6711del (p.Gln2233ProfsTer13)
c.1280_1293del (p.Gln427ProfsTer13)
n.1974_1987del
c.872_885del (p.Gln291ProfsTer13)
n.3361_3374del
c.6746_6759del (p.Gln2249ProfsTer13)
c.6716_6729del (p.Gln2239ProfsTer13)
c.6653_6666del (p.Gln2218ProfsTer13)
c.5651_5664del (p.Gln1884ProfsTer13)
c.99_112del
c.6852_6865del (n.6852_6865del)
c.64+156_64+169del
n.130_143del
c.6707_6720del (p.Gln2236ProfsTer13)
c.6683_6696del (p.Gln2228ProfsTer13)
c.6743_6756del (p.Gln2248ProfsTer13)
 ClinVar
17g.31338034C>ACA399013996NF1c.6696C>A (p.Phe2232Leu)
c.1278C>A (p.Phe426Leu)
n.1972C>A
c.870C>A (p.Phe290Leu)
n.3359C>A
c.6744C>A (p.Phe2248Leu)
c.6714C>A (p.Phe2238Leu)
c.6651C>A (p.Phe2217Leu)
c.5649C>A (p.Phe1883Leu)
c.97C>A
c.6850C>A (n.6850C>A)
c.64+154C>A
n.128C>A
c.6705C>A (p.Phe2235Leu)
c.6681C>A (p.Phe2227Leu)
c.6741C>A (p.Phe2247Leu)
 ClinVar dbSNP
17g.31338034C=CA2255602825NF1c.6696C= (p.Phe2232=)
c.1278C= (p.Phe426=)
n.1972C=
c.870C= (p.Phe290=)
n.3359C=
c.6744C= (p.Phe2248=)
c.6714C= (p.Phe2238=)
c.6651C= (p.Phe2217=)
c.5649C= (p.Phe1883=)
c.97C=
c.6850C= (n.6850C=)
c.64+154C=
n.128C=
c.6705C= (p.Phe2235=)
c.6681C= (p.Phe2227=)
c.6741C= (p.Phe2247=)
17g.31338034C>GCA399013997NF1c.6696C>G (p.Phe2232Leu)
c.1278C>G (p.Phe426Leu)
n.1972C>G
c.870C>G (p.Phe290Leu)
n.3359C>G
c.6744C>G (p.Phe2248Leu)
c.6714C>G (p.Phe2238Leu)
c.6651C>G (p.Phe2217Leu)
c.5649C>G (p.Phe1883Leu)
c.97C>G
c.6850C>G (n.6850C>G)
c.64+154C>G
n.128C>G
c.6705C>G (p.Phe2235Leu)
c.6681C>G (p.Phe2227Leu)
c.6741C>G (p.Phe2247Leu)
17g.31338034C>TCA499234250NF1c.6696C>T (p.Phe2232=)
c.1278C>T (p.Phe426=)
n.1972C>T
c.870C>T (p.Phe290=)
n.3359C>T
c.6744C>T (p.Phe2248=)
c.6714C>T (p.Phe2238=)
c.6651C>T (p.Phe2217=)
c.5649C>T (p.Phe1883=)
c.97C>T
c.6850C>T (n.6850C>T)
c.64+154C>T
n.128C>T
c.6705C>T (p.Phe2235=)
c.6681C>T (p.Phe2227=)
c.6741C>T (p.Phe2247=)
 ClinVar dbSNP
17g.31338035delCA2637077789NF1c.6697del (p.Gln2233AsnfsTer26)
c.1279del (p.Gln427AsnfsTer26)
n.1973del
c.871del (p.Gln291AsnfsTer26)
n.3360del
c.6745del (p.Gln2249AsnfsTer26)
c.6715del (p.Gln2239AsnfsTer26)
c.6652del (p.Gln2218AsnfsTer26)
c.5650del (p.Gln1884AsnfsTer26)
c.98del
c.6851del (n.6851del)
c.64+155del
n.129del
c.6706del (p.Gln2236AsnfsTer26)
c.6682del (p.Gln2228AsnfsTer26)
c.6742del (p.Gln2248AsnfsTer26)
 gnomAD v4
17g.31338035C>ACA399013998NF1c.6697C>A (p.Gln2233Lys)
c.1279C>A (p.Gln427Lys)
n.1973C>A
c.871C>A (p.Gln291Lys)
n.3360C>A
c.6745C>A (p.Gln2249Lys)
c.6715C>A (p.Gln2239Lys)
c.6652C>A (p.Gln2218Lys)
c.5650C>A (p.Gln1884Lys)
c.98C>A
c.6851C>A (n.6851C>A)
c.64+155C>A
n.129C>A
c.6706C>A (p.Gln2236Lys)
c.6682C>A (p.Gln2228Lys)
c.6742C>A (p.Gln2248Lys)
 dbSNP
17g.31338035C=CA2255602827NF1c.6697C= (p.Gln2233=)
c.1279C= (p.Gln427=)
n.1973C=
c.871C= (p.Gln291=)
n.3360C=
c.6745C= (p.Gln2249=)
c.6715C= (p.Gln2239=)
c.6652C= (p.Gln2218=)
c.5650C= (p.Gln1884=)
c.98C=
c.6851C= (n.6851C=)
c.64+155C=
n.129C=
c.6706C= (p.Gln2236=)
c.6682C= (p.Gln2228=)
c.6742C= (p.Gln2248=)
17g.31338035C>GCA399013999NF1c.6697C>G (p.Gln2233Glu)
c.1279C>G (p.Gln427Glu)
n.1973C>G
c.871C>G (p.Gln291Glu)
n.3360C>G
c.6745C>G (p.Gln2249Glu)
c.6715C>G (p.Gln2239Glu)
c.6652C>G (p.Gln2218Glu)
c.5650C>G (p.Gln1884Glu)
c.98C>G
c.6851C>G (n.6851C>G)
c.64+155C>G
n.129C>G
c.6706C>G (p.Gln2236Glu)
c.6682C>G (p.Gln2228Glu)
c.6742C>G (p.Gln2248Glu)
17g.31338035C>TCA399014000NF1c.6697C>T (p.Gln2233Ter)
c.1279C>T (p.Gln427Ter)
n.1973C>T
c.871C>T (p.Gln291Ter)
n.3360C>T
c.6745C>T (p.Gln2249Ter)
c.6715C>T (p.Gln2239Ter)
c.6652C>T (p.Gln2218Ter)
c.5650C>T (p.Gln1884Ter)
c.98C>T
c.6851C>T (n.6851C>T)
c.64+155C>T
n.129C>T
c.6706C>T (p.Gln2236Ter)
c.6682C>T (p.Gln2228Ter)
c.6742C>T (p.Gln2248Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31338035_31338040delinsCAATATCA2255602826NF1c.6697_6702delinsCAATAT (p.Gln2233=)
c.1279_1284delinsCAATAT (p.Gln427=)
n.1973_1978delinsCAATAT
c.871_876delinsCAATAT (p.Gln291=)
n.3360_3365delinsCAATAT
c.6745_6750delinsCAATAT (p.Gln2249=)
c.6715_6720delinsCAATAT (p.Gln2239=)
c.6652_6657delinsCAATAT (p.Gln2218=)
c.5650_5655delinsCAATAT (p.Gln1884=)
c.98_103delinsCAATAT
c.6851_6856delinsCAATAT (n.6851_6856delinsCAATAT)
c.64+155_64+160delinsCAATAT
n.129_134delinsCAATAT
c.6706_6711delinsCAATAT (p.Gln2236=)
c.6682_6687delinsCAATAT (p.Gln2228=)
c.6742_6747delinsCAATAT (p.Gln2248=)
17g.31338036A=CA2255602828NF1c.6698A= (p.Gln2233=)
c.1280A= (p.Gln427=)
n.1974A=
c.872A= (p.Gln291=)
n.3361A=
c.6746A= (p.Gln2249=)
c.6716A= (p.Gln2239=)
c.6653A= (p.Gln2218=)
c.5651A= (p.Gln1884=)
c.99A=
c.6852A= (n.6852A=)
c.64+156A=
n.130A=
c.6707A= (p.Gln2236=)
c.6683A= (p.Gln2228=)
c.6743A= (p.Gln2248=)
17g.31338036A>CCA399014001NF1c.6698A>C (p.Gln2233Pro)
c.1280A>C (p.Gln427Pro)
n.1974A>C
c.872A>C (p.Gln291Pro)
n.3361A>C
c.6746A>C (p.Gln2249Pro)
c.6716A>C (p.Gln2239Pro)
c.6653A>C (p.Gln2218Pro)
c.5651A>C (p.Gln1884Pro)
c.99A>C
c.6852A>C (n.6852A>C)
c.64+156A>C
n.130A>C
c.6707A>C (p.Gln2236Pro)
c.6683A>C (p.Gln2228Pro)
c.6743A>C (p.Gln2248Pro)
17g.31338036A>GCA399014003NF1c.6698A>G (p.Gln2233Arg)
c.1280A>G (p.Gln427Arg)
n.1974A>G
c.872A>G (p.Gln291Arg)
n.3361A>G
c.6746A>G (p.Gln2249Arg)
c.6716A>G (p.Gln2239Arg)
c.6653A>G (p.Gln2218Arg)
c.5651A>G (p.Gln1884Arg)
c.99A>G
c.6852A>G (n.6852A>G)
c.64+156A>G
n.130A>G
c.6707A>G (p.Gln2236Arg)
c.6683A>G (p.Gln2228Arg)
c.6743A>G (p.Gln2248Arg)
17g.31338036A>TCA399014002NF1c.6698A>T (p.Gln2233Leu)
c.1280A>T (p.Gln427Leu)
n.1974A>T
c.872A>T (p.Gln291Leu)
n.3361A>T
c.6746A>T (p.Gln2249Leu)
c.6716A>T (p.Gln2239Leu)
c.6653A>T (p.Gln2218Leu)
c.5651A>T (p.Gln1884Leu)
c.99A>T
c.6852A>T (n.6852A>T)
c.64+156A>T
n.130A>T
c.6707A>T (p.Gln2236Leu)
c.6683A>T (p.Gln2228Leu)
c.6743A>T (p.Gln2248Leu)
 ClinVar dbSNP
17g.31338039_31338043delCA1139665456NF1c.6701_6705del (p.Tyr2234SerfsTer15)
c.1283_1287del (p.Tyr428SerfsTer15)
n.1977_1981del
c.875_879del (p.Tyr292SerfsTer15)
n.3364_3368del
c.6749_6753del (p.Tyr2250SerfsTer15)
c.6719_6723del (p.Tyr2240SerfsTer15)
c.6656_6660del (p.Tyr2219SerfsTer15)
c.5654_5658del (p.Tyr1885SerfsTer15)
c.102_106del
c.6855_6859del (n.6855_6859del)
c.64+159_64+163del
n.133_137del
c.6710_6714del (p.Tyr2237SerfsTer15)
c.6686_6690del (p.Tyr2229SerfsTer15)
c.6746_6750del (p.Tyr2249SerfsTer15)
 ClinVar dbSNP
17g.31338037A=CA2255602829NF1c.6699A= (p.Gln2233=)
c.1281A= (p.Gln427=)
n.1975A=
c.873A= (p.Gln291=)
n.3362A=
c.6747A= (p.Gln2249=)
c.6717A= (p.Gln2239=)
c.6654A= (p.Gln2218=)
c.5652A= (p.Gln1884=)
c.100A=
c.6853A= (n.6853A=)
c.64+157A=
n.131A=
c.6708A= (p.Gln2236=)
c.6684A= (p.Gln2228=)
c.6744A= (p.Gln2248=)
17g.31338037A>CCA399014004NF1c.6699A>C (p.Gln2233His)
c.1281A>C (p.Gln427His)
n.1975A>C
c.873A>C (p.Gln291His)
n.3362A>C
c.6747A>C (p.Gln2249His)
c.6717A>C (p.Gln2239His)
c.6654A>C (p.Gln2218His)
c.5652A>C (p.Gln1884His)
c.100A>C
c.6853A>C (n.6853A>C)
c.64+157A>C
n.131A>C
c.6708A>C (p.Gln2236His)
c.6684A>C (p.Gln2228His)
c.6744A>C (p.Gln2248His)
17g.31338037A>GCA499234251NF1c.6699A>G (p.Gln2233=)
c.1281A>G (p.Gln427=)
n.1975A>G
c.873A>G (p.Gln291=)
n.3362A>G
c.6747A>G (p.Gln2249=)
c.6717A>G (p.Gln2239=)
c.6654A>G (p.Gln2218=)
c.5652A>G (p.Gln1884=)
c.100A>G
c.6853A>G (n.6853A>G)
c.64+157A>G
n.131A>G
c.6708A>G (p.Gln2236=)
c.6684A>G (p.Gln2228=)
c.6744A>G (p.Gln2248=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338037A>TCA399014005NF1c.6699A>T (p.Gln2233His)
c.1281A>T (p.Gln427His)
n.1975A>T
c.873A>T (p.Gln291His)
n.3362A>T
c.6747A>T (p.Gln2249His)
c.6717A>T (p.Gln2239His)
c.6654A>T (p.Gln2218His)
c.5652A>T (p.Gln1884His)
c.100A>T
c.6853A>T (n.6853A>T)
c.64+157A>T
n.131A>T
c.6708A>T (p.Gln2236His)
c.6684A>T (p.Gln2228His)
c.6744A>T (p.Gln2248His)
17g.31338040_31338041dupCA2580614068NF1c.6702_6703dup (p.Asn2235IlefsTer25)
c.1284_1285dup (p.Asn429IlefsTer25)
n.1978_1979dup
c.876_877dup (p.Asn293IlefsTer25)
n.3365_3366dup
c.6750_6751dup (p.Asn2251IlefsTer25)
c.6720_6721dup (p.Asn2241IlefsTer25)
c.6657_6658dup (p.Asn2220IlefsTer25)
c.5655_5656dup (p.Asn1886IlefsTer25)
c.103_104dup
c.6856_6857dup (n.6856_6857dup)
c.64+160_64+161dup
n.134_135dup
c.6711_6712dup (p.Asn2238IlefsTer25)
c.6687_6688dup (p.Asn2230IlefsTer25)
c.6747_6748dup (p.Asn2250IlefsTer25)
 ClinVar dbSNP
17g.31338038_31338041dupCA2695225164NF1c.6700_6703dup (p.Asn2235IlefsTer2)
c.1282_1285dup (p.Asn429IlefsTer2)
n.1976_1979dup
c.874_877dup (p.Asn293IlefsTer2)
n.3363_3366dup
c.6748_6751dup (p.Asn2251IlefsTer2)
c.6718_6721dup (p.Asn2241IlefsTer2)
c.6655_6658dup (p.Asn2220IlefsTer2)
c.5653_5656dup (p.Asn1886IlefsTer2)
c.101_104dup
c.6854_6857dup (n.6854_6857dup)
c.64+158_64+161dup
n.132_135dup
c.6709_6712dup (p.Asn2238IlefsTer2)
c.6685_6688dup (p.Asn2230IlefsTer2)
c.6745_6748dup (p.Asn2250IlefsTer2)
17g.31338038T>ACA399014006NF1c.6700T>A (p.Tyr2234Asn)
c.1282T>A (p.Tyr428Asn)
n.1976T>A
c.874T>A (p.Tyr292Asn)
n.3363T>A
c.6748T>A (p.Tyr2250Asn)
c.6718T>A (p.Tyr2240Asn)
c.6655T>A (p.Tyr2219Asn)
c.5653T>A (p.Tyr1885Asn)
c.101T>A
c.6854T>A (n.6854T>A)
c.64+158T>A
n.132T>A
c.6709T>A (p.Tyr2237Asn)
c.6685T>A (p.Tyr2229Asn)
c.6745T>A (p.Tyr2249Asn)
17g.31338038T>CCA399014007NF1c.6700T>C (p.Tyr2234His)
c.1282T>C (p.Tyr428His)
n.1976T>C
c.874T>C (p.Tyr292His)
n.3363T>C
c.6748T>C (p.Tyr2250His)
c.6718T>C (p.Tyr2240His)
c.6655T>C (p.Tyr2219His)
c.5653T>C (p.Tyr1885His)
c.101T>C
c.6854T>C (n.6854T>C)
c.64+158T>C
n.132T>C
c.6709T>C (p.Tyr2237His)
c.6685T>C (p.Tyr2229His)
c.6745T>C (p.Tyr2249His)
17g.31338038T>GCA399014008NF1c.6700T>G (p.Tyr2234Asp)
c.1282T>G (p.Tyr428Asp)
n.1976T>G
c.874T>G (p.Tyr292Asp)
n.3363T>G
c.6748T>G (p.Tyr2250Asp)
c.6718T>G (p.Tyr2240Asp)
c.6655T>G (p.Tyr2219Asp)
c.5653T>G (p.Tyr1885Asp)
c.101T>G
c.6854T>G (n.6854T>G)
c.64+158T>G
n.132T>G
c.6709T>G (p.Tyr2237Asp)
c.6685T>G (p.Tyr2229Asp)
c.6745T>G (p.Tyr2249Asp)
17g.31338039A>CCA399014009NF1c.6701A>C (p.Tyr2234Ser)
c.1283A>C (p.Tyr428Ser)
n.1977A>C
c.875A>C (p.Tyr292Ser)
n.3364A>C
c.6749A>C (p.Tyr2250Ser)
c.6719A>C (p.Tyr2240Ser)
c.6656A>C (p.Tyr2219Ser)
c.5654A>C (p.Tyr1885Ser)
c.102A>C
c.6855A>C (n.6855A>C)
c.64+159A>C
n.133A>C
c.6710A>C (p.Tyr2237Ser)
c.6686A>C (p.Tyr2229Ser)
c.6746A>C (p.Tyr2249Ser)
17g.31338039A>GCA399014010NF1c.6701A>G (p.Tyr2234Cys)
c.1283A>G (p.Tyr428Cys)
n.1977A>G
c.875A>G (p.Tyr292Cys)
n.3364A>G
c.6749A>G (p.Tyr2250Cys)
c.6719A>G (p.Tyr2240Cys)
c.6656A>G (p.Tyr2219Cys)
c.5654A>G (p.Tyr1885Cys)
c.102A>G
c.6855A>G (n.6855A>G)
c.64+159A>G
n.133A>G
c.6710A>G (p.Tyr2237Cys)
c.6686A>G (p.Tyr2229Cys)
c.6746A>G (p.Tyr2249Cys)
17g.31338039A>TCA399014011NF1c.6701A>T (p.Tyr2234Phe)
c.1283A>T (p.Tyr428Phe)
n.1977A>T
c.875A>T (p.Tyr292Phe)
n.3364A>T
c.6749A>T (p.Tyr2250Phe)
c.6719A>T (p.Tyr2240Phe)
c.6656A>T (p.Tyr2219Phe)
c.5654A>T (p.Tyr1885Phe)
c.102A>T
c.6855A>T (n.6855A>T)
c.64+159A>T
n.133A>T
c.6710A>T (p.Tyr2237Phe)
c.6686A>T (p.Tyr2229Phe)
c.6746A>T (p.Tyr2249Phe)
17g.31338040T>ACA399014012NF1c.6702T>A (p.Tyr2234Ter)
c.1284T>A (p.Tyr428Ter)
n.1978T>A
c.876T>A (p.Tyr292Ter)
n.3365T>A
c.6750T>A (p.Tyr2250Ter)
c.6720T>A (p.Tyr2240Ter)
c.6657T>A (p.Tyr2219Ter)
c.5655T>A (p.Tyr1885Ter)
c.103T>A
c.6856T>A (n.6856T>A)
c.64+160T>A
n.134T>A
c.6711T>A (p.Tyr2237Ter)
c.6687T>A (p.Tyr2229Ter)
c.6747T>A (p.Tyr2249Ter)
17g.31338040T>CCA499234252NF1c.6702T>C (p.Tyr2234=)
c.1284T>C (p.Tyr428=)
n.1978T>C
c.876T>C (p.Tyr292=)
n.3365T>C
c.6750T>C (p.Tyr2250=)
c.6720T>C (p.Tyr2240=)
c.6657T>C (p.Tyr2219=)
c.5655T>C (p.Tyr1885=)
c.103T>C
c.6856T>C (n.6856T>C)
c.64+160T>C
n.134T>C
c.6711T>C (p.Tyr2237=)
c.6687T>C (p.Tyr2229=)
c.6747T>C (p.Tyr2249=)
 ClinVar dbSNP
17g.31338040T>GCA399014013NF1c.6702T>G (p.Tyr2234Ter)
c.1284T>G (p.Tyr428Ter)
n.1978T>G
c.876T>G (p.Tyr292Ter)
n.3365T>G
c.6750T>G (p.Tyr2250Ter)
c.6720T>G (p.Tyr2240Ter)
c.6657T>G (p.Tyr2219Ter)
c.5655T>G (p.Tyr1885Ter)
c.103T>G
c.6856T>G (n.6856T>G)
c.64+160T>G
n.134T>G
c.6711T>G (p.Tyr2237Ter)
c.6687T>G (p.Tyr2229Ter)
c.6747T>G (p.Tyr2249Ter)
 ClinVar dbSNP
17g.31338040T=CA2255602830NF1c.6702T= (p.Tyr2234=)
c.1284T= (p.Tyr428=)
n.1978T=
c.876T= (p.Tyr292=)
n.3365T=
c.6750T= (p.Tyr2250=)
c.6720T= (p.Tyr2240=)
c.6657T= (p.Tyr2219=)
c.5655T= (p.Tyr1885=)
c.103T=
c.6856T= (n.6856T=)
c.64+160T=
n.134T=
c.6711T= (p.Tyr2237=)
c.6687T= (p.Tyr2229=)
c.6747T= (p.Tyr2249=)
17g.31338040_31338042delinsTAACA2255602831NF1c.6702_6704delinsTAA (p.Tyr2234=)
c.1284_1286delinsTAA (p.Tyr428=)
n.1978_1980delinsTAA
c.876_878delinsTAA (p.Tyr292=)
n.3365_3367delinsTAA
c.6750_6752delinsTAA (p.Tyr2250=)
c.6720_6722delinsTAA (p.Tyr2240=)
c.6657_6659delinsTAA (p.Tyr2219=)
c.5655_5657delinsTAA (p.Tyr1885=)
c.103_105delinsTAA
c.6856_6858delinsTAA (n.6856_6858delinsTAA)
c.64+160_64+162delinsTAA
n.134_136delinsTAA
c.6711_6713delinsTAA (p.Tyr2237=)
c.6687_6689delinsTAA (p.Tyr2229=)
c.6747_6749delinsTAA (p.Tyr2249=)
17g.31338041A>CCA399014016NF1c.6703A>C (p.Asn2235His)
c.1285A>C (p.Asn429His)
n.1979A>C
c.877A>C (p.Asn293His)
n.3366A>C
c.6751A>C (p.Asn2251His)
c.6721A>C (p.Asn2241His)
c.6658A>C (p.Asn2220His)
c.5656A>C (p.Asn1886His)
c.104A>C
c.6857A>C (n.6857A>C)
c.64+161A>C
n.135A>C
c.6712A>C (p.Asn2238His)
c.6688A>C (p.Asn2230His)
c.6748A>C (p.Asn2250His)
17g.31338041A>GCA399014015NF1c.6703A>G (p.Asn2235Asp)
c.1285A>G (p.Asn429Asp)
n.1979A>G
c.877A>G (p.Asn293Asp)
n.3366A>G
c.6751A>G (p.Asn2251Asp)
c.6721A>G (p.Asn2241Asp)
c.6658A>G (p.Asn2220Asp)
c.5656A>G (p.Asn1886Asp)
c.104A>G
c.6857A>G (n.6857A>G)
c.64+161A>G
n.135A>G
c.6712A>G (p.Asn2238Asp)
c.6688A>G (p.Asn2230Asp)
c.6748A>G (p.Asn2250Asp)
17g.31338041A>TCA399014014NF1c.6703A>T (p.Asn2235Tyr)
c.1285A>T (p.Asn429Tyr)
n.1979A>T
c.877A>T (p.Asn293Tyr)
n.3366A>T
c.6751A>T (p.Asn2251Tyr)
c.6721A>T (p.Asn2241Tyr)
c.6658A>T (p.Asn2220Tyr)
c.5656A>T (p.Asn1886Tyr)
c.104A>T
c.6857A>T (n.6857A>T)
c.64+161A>T
n.135A>T
c.6712A>T (p.Asn2238Tyr)
c.6688A>T (p.Asn2230Tyr)
c.6748A>T (p.Asn2250Tyr)
17g.31338041_31338042delCA2255602832NF1c.6703_6704del (p.Asn2235SerfsTer15)
c.1285_1286del (p.Asn429SerfsTer15)
n.1979_1980del
c.877_878del (p.Asn293SerfsTer15)
n.3366_3367del
c.6751_6752del (p.Asn2251SerfsTer15)
c.6721_6722del (p.Asn2241SerfsTer15)
c.6658_6659del (p.Asn2220SerfsTer15)
c.5656_5657del (p.Asn1886SerfsTer15)
c.104_105del
c.6857_6858del (n.6857_6858del)
c.64+161_64+162del
n.135_136del
c.6712_6713del (p.Asn2238SerfsTer15)
c.6688_6689del (p.Asn2230SerfsTer15)
c.6748_6749del (p.Asn2250SerfsTer15)
 ClinVar dbSNP
17g.31338042dupCA891844406NF1c.6704dup (p.Asn2235LysfsTer16)
c.1286dup (p.Asn429LysfsTer16)
n.1980dup
c.878dup (p.Asn293LysfsTer16)
n.3367dup
c.6752dup (p.Asn2251LysfsTer16)
c.6722dup (p.Asn2241LysfsTer16)
c.6659dup (p.Asn2220LysfsTer16)
c.5657dup (p.Asn1886LysfsTer16)
c.105dup
c.6858dup (n.6858dup)
c.64+162dup
n.136dup
c.6713dup (p.Asn2238LysfsTer16)
c.6689dup (p.Asn2230LysfsTer16)
c.6749dup (p.Asn2250LysfsTer16)
 ClinVar dbSNP
17g.31338042A>CCA399014017NF1c.6704A>C (p.Asn2235Thr)
c.1286A>C (p.Asn429Thr)
n.1980A>C
c.878A>C (p.Asn293Thr)
n.3367A>C
c.6752A>C (p.Asn2251Thr)
c.6722A>C (p.Asn2241Thr)
c.6659A>C (p.Asn2220Thr)
c.5657A>C (p.Asn1886Thr)
c.105A>C
c.6858A>C (n.6858A>C)
c.64+162A>C
n.136A>C
c.6713A>C (p.Asn2238Thr)
c.6689A>C (p.Asn2230Thr)
c.6749A>C (p.Asn2250Thr)
 dbSNP
17g.31338042A>GCA399014019NF1c.6704A>G (p.Asn2235Ser)
c.1286A>G (p.Asn429Ser)
n.1980A>G
c.878A>G (p.Asn293Ser)
n.3367A>G
c.6752A>G (p.Asn2251Ser)
c.6722A>G (p.Asn2241Ser)
c.6659A>G (p.Asn2220Ser)
c.5657A>G (p.Asn1886Ser)
c.105A>G
c.6858A>G (n.6858A>G)
c.64+162A>G
n.136A>G
c.6713A>G (p.Asn2238Ser)
c.6689A>G (p.Asn2230Ser)
c.6749A>G (p.Asn2250Ser)
17g.31338042A>TCA399014018NF1c.6704A>T (p.Asn2235Ile)
c.1286A>T (p.Asn429Ile)
n.1980A>T
c.878A>T (p.Asn293Ile)
n.3367A>T
c.6752A>T (p.Asn2251Ile)
c.6722A>T (p.Asn2241Ile)
c.6659A>T (p.Asn2220Ile)
c.5657A>T (p.Asn1886Ile)
c.105A>T
c.6858A>T (n.6858A>T)
c.64+162A>T
n.136A>T
c.6713A>T (p.Asn2238Ile)
c.6689A>T (p.Asn2230Ile)
c.6749A>T (p.Asn2250Ile)
 dbSNP
17g.31338043T>ACA399014020NF1c.6705T>A (p.Asn2235Lys)
c.1287T>A (p.Asn429Lys)
n.1981T>A
c.879T>A (p.Asn293Lys)
n.3368T>A
c.6753T>A (p.Asn2251Lys)
c.6723T>A (p.Asn2241Lys)
c.6660T>A (p.Asn2220Lys)
c.5658T>A (p.Asn1886Lys)
c.106T>A
c.6859T>A (n.6859T>A)
c.64+163T>A
n.137T>A
c.6714T>A (p.Asn2238Lys)
c.6690T>A (p.Asn2230Lys)
c.6750T>A (p.Asn2250Lys)
17g.31338043T>CCA499234253NF1c.6705T>C (p.Asn2235=)
c.1287T>C (p.Asn429=)
n.1981T>C
c.879T>C (p.Asn293=)
n.3368T>C
c.6753T>C (p.Asn2251=)
c.6723T>C (p.Asn2241=)
c.6660T>C (p.Asn2220=)
c.5658T>C (p.Asn1886=)
c.106T>C
c.6859T>C (n.6859T>C)
c.64+163T>C
n.137T>C
c.6714T>C (p.Asn2238=)
c.6690T>C (p.Asn2230=)
c.6750T>C (p.Asn2250=)
17g.31338043T>GCA399014021NF1c.6705T>G (p.Asn2235Lys)
c.1287T>G (p.Asn429Lys)
n.1981T>G
c.879T>G (p.Asn293Lys)
n.3368T>G
c.6753T>G (p.Asn2251Lys)
c.6723T>G (p.Asn2241Lys)
c.6660T>G (p.Asn2220Lys)
c.5658T>G (p.Asn1886Lys)
c.106T>G
c.6859T>G (n.6859T>G)
c.64+163T>G
n.137T>G
c.6714T>G (p.Asn2238Lys)
c.6690T>G (p.Asn2230Lys)
c.6750T>G (p.Asn2250Lys)
17g.31338044C>ACA399014022NF1c.6706C>A (p.Pro2236Thr)
c.1288C>A (p.Pro430Thr)
n.1982C>A
c.880C>A (p.Pro294Thr)
n.3369C>A
c.6754C>A (p.Pro2252Thr)
c.6724C>A (p.Pro2242Thr)
c.6661C>A (p.Pro2221Thr)
c.5659C>A (p.Pro1887Thr)
c.107C>A
c.6860C>A (n.6860C>A)
c.64+164C>A
n.138C>A
c.6715C>A (p.Pro2239Thr)
c.6691C>A (p.Pro2231Thr)
c.6751C>A (p.Pro2251Thr)
 dbSNP
17g.31338044C>GCA399014023NF1c.6706C>G (p.Pro2236Ala)
c.1288C>G (p.Pro430Ala)
n.1982C>G
c.880C>G (p.Pro294Ala)
n.3369C>G
c.6754C>G (p.Pro2252Ala)
c.6724C>G (p.Pro2242Ala)
c.6661C>G (p.Pro2221Ala)
c.5659C>G (p.Pro1887Ala)
c.107C>G
c.6860C>G (n.6860C>G)
c.64+164C>G
n.138C>G
c.6715C>G (p.Pro2239Ala)
c.6691C>G (p.Pro2231Ala)
c.6751C>G (p.Pro2251Ala)
 dbSNP
17g.31338044C>TCA399014024NF1c.6706C>T (p.Pro2236Ser)
c.1288C>T (p.Pro430Ser)
n.1982C>T
c.880C>T (p.Pro294Ser)
n.3369C>T
c.6754C>T (p.Pro2252Ser)
c.6724C>T (p.Pro2242Ser)
c.6661C>T (p.Pro2221Ser)
c.5659C>T (p.Pro1887Ser)
c.107C>T
c.6860C>T (n.6860C>T)
c.64+164C>T
n.138C>T
c.6715C>T (p.Pro2239Ser)
c.6691C>T (p.Pro2231Ser)
c.6751C>T (p.Pro2251Ser)
 dbSNP
17g.31338045C>ACA399014025NF1c.6707C>A (p.Pro2236Gln)
c.1289C>A (p.Pro430Gln)
n.1983C>A
c.881C>A (p.Pro294Gln)
n.3370C>A
c.6755C>A (p.Pro2252Gln)
c.6725C>A (p.Pro2242Gln)
c.6662C>A (p.Pro2221Gln)
c.5660C>A (p.Pro1887Gln)
c.108C>A
c.6861C>A (n.6861C>A)
c.64+165C>A
n.139C>A
c.6716C>A (p.Pro2239Gln)
c.6692C>A (p.Pro2231Gln)
c.6752C>A (p.Pro2251Gln)
 dbSNP
17g.31338045C=CA2255602833NF1c.6707C= (p.Pro2236=)
c.1289C= (p.Pro430=)
n.1983C=
c.881C= (p.Pro294=)
n.3370C=
c.6755C= (p.Pro2252=)
c.6725C= (p.Pro2242=)
c.6662C= (p.Pro2221=)
c.5660C= (p.Pro1887=)
c.108C=
c.6861C= (n.6861C=)
c.64+165C=
n.139C=
c.6716C= (p.Pro2239=)
c.6692C= (p.Pro2231=)
c.6752C= (p.Pro2251=)
17g.31338045C>GCA399014026NF1c.6707C>G (p.Pro2236Arg)
c.1289C>G (p.Pro430Arg)
n.1983C>G
c.881C>G (p.Pro294Arg)
n.3370C>G
c.6755C>G (p.Pro2252Arg)
c.6725C>G (p.Pro2242Arg)
c.6662C>G (p.Pro2221Arg)
c.5660C>G (p.Pro1887Arg)
c.108C>G
c.6861C>G (n.6861C>G)
c.64+165C>G
n.139C>G
c.6716C>G (p.Pro2239Arg)
c.6692C>G (p.Pro2231Arg)
c.6752C>G (p.Pro2251Arg)
 dbSNP
17g.31338045C>TCA399014027NF1c.6707C>T (p.Pro2236Leu)
c.1289C>T (p.Pro430Leu)
n.1983C>T
c.881C>T (p.Pro294Leu)
n.3370C>T
c.6755C>T (p.Pro2252Leu)
c.6725C>T (p.Pro2242Leu)
c.6662C>T (p.Pro2221Leu)
c.5660C>T (p.Pro1887Leu)
c.108C>T
c.6861C>T (n.6861C>T)
c.64+165C>T
n.139C>T
c.6716C>T (p.Pro2239Leu)
c.6692C>T (p.Pro2231Leu)
c.6752C>T (p.Pro2251Leu)
 ClinVar dbSNP gnomAD v4
17g.31338046A>CCA499234256NF1c.6708A>C (p.Pro2236=)
c.1290A>C (p.Pro430=)
n.1984A>C
c.882A>C (p.Pro294=)
n.3371A>C
c.6756A>C (p.Pro2252=)
c.6726A>C (p.Pro2242=)
c.6663A>C (p.Pro2221=)
c.5661A>C (p.Pro1887=)
c.109A>C
c.6862A>C (n.6862A>C)
c.64+166A>C
n.140A>C
c.6717A>C (p.Pro2239=)
c.6693A>C (p.Pro2231=)
c.6753A>C (p.Pro2251=)
 ClinVar dbSNP
17g.31338046A>GCA499234255NF1c.6708A>G (p.Pro2236=)
c.1290A>G (p.Pro430=)
n.1984A>G
c.882A>G (p.Pro294=)
n.3371A>G
c.6756A>G (p.Pro2252=)
c.6726A>G (p.Pro2242=)
c.6663A>G (p.Pro2221=)
c.5661A>G (p.Pro1887=)
c.109A>G
c.6862A>G (n.6862A>G)
c.64+166A>G
n.140A>G
c.6717A>G (p.Pro2239=)
c.6693A>G (p.Pro2231=)
c.6753A>G (p.Pro2251=)
17g.31338046A>TCA499234254NF1c.6708A>T (p.Pro2236=)
c.1290A>T (p.Pro430=)
n.1984A>T
c.882A>T (p.Pro294=)
n.3371A>T
c.6756A>T (p.Pro2252=)
c.6726A>T (p.Pro2242=)
c.6663A>T (p.Pro2221=)
c.5661A>T (p.Pro1887=)
c.109A>T
c.6862A>T (n.6862A>T)
c.64+166A>T
n.140A>T
c.6717A>T (p.Pro2239=)
c.6693A>T (p.Pro2231=)
c.6753A>T (p.Pro2251=)
17g.31338046_31338047insGGAAACA658798759NF1c.6708_6709insGGAAA (p.Ser2237GlyfsTer24)
c.1290_1291insGGAAA (p.Ser431GlyfsTer24)
n.1984_1985insGGAAA
c.882_883insGGAAA (p.Ser295GlyfsTer24)
n.3371_3372insGGAAA
c.6756_6757insGGAAA (p.Ser2253GlyfsTer24)
c.6726_6727insGGAAA (p.Ser2243GlyfsTer24)
c.6663_6664insGGAAA (p.Ser2222GlyfsTer24)
c.5661_5662insGGAAA (p.Ser1888GlyfsTer24)
c.109_110insGGAAA
c.6862_6863insGGAAA (n.6862_6863insGGAAA)
c.64+166_64+167insGGAAA
n.140_141insGGAAA
c.6717_6718insGGAAA (p.Ser2240GlyfsTer24)
c.6693_6694insGGAAA (p.Ser2232GlyfsTer24)
c.6753_6754insGGAAA (p.Ser2252GlyfsTer24)
 ClinVar dbSNP
17g.31338047delCA2695225165NF1c.6709del (p.Ser2237ProfsTer22)
c.1291del (p.Ser431ProfsTer22)
n.1985del
c.883del (p.Ser295ProfsTer22)
n.3372del
c.6757del (p.Ser2253ProfsTer22)
c.6727del (p.Ser2243ProfsTer22)
c.6664del (p.Ser2222ProfsTer22)
c.5662del (p.Ser1888ProfsTer22)
c.110del
c.6863del (n.6863del)
c.64+167del
n.141del
c.6718del (p.Ser2240ProfsTer22)
c.6694del (p.Ser2232ProfsTer22)
c.6754del (p.Ser2252ProfsTer22)
17g.31338047T>ACA399014028NF1c.6709T>A (p.Ser2237Thr)
c.1291T>A (p.Ser431Thr)
n.1985T>A
c.883T>A (p.Ser295Thr)
n.3372T>A
c.6757T>A (p.Ser2253Thr)
c.6727T>A (p.Ser2243Thr)
c.6664T>A (p.Ser2222Thr)
c.5662T>A (p.Ser1888Thr)
c.110T>A
c.6863T>A (n.6863T>A)
c.64+167T>A
n.141T>A
c.6718T>A (p.Ser2240Thr)
c.6694T>A (p.Ser2232Thr)
c.6754T>A (p.Ser2252Thr)
17g.31338047T>CCA399014029NF1c.6709T>C (p.Ser2237Pro)
c.1291T>C (p.Ser431Pro)
n.1985T>C
c.883T>C (p.Ser295Pro)
n.3372T>C
c.6757T>C (p.Ser2253Pro)
c.6727T>C (p.Ser2243Pro)
c.6664T>C (p.Ser2222Pro)
c.5662T>C (p.Ser1888Pro)
c.110T>C
c.6863T>C (n.6863T>C)
c.64+167T>C
n.141T>C
c.6718T>C (p.Ser2240Pro)
c.6694T>C (p.Ser2232Pro)
c.6754T>C (p.Ser2252Pro)
17g.31338047T>GCA399014030NF1c.6709T>G (p.Ser2237Ala)
c.1291T>G (p.Ser431Ala)
n.1985T>G
c.883T>G (p.Ser295Ala)
n.3372T>G
c.6757T>G (p.Ser2253Ala)
c.6727T>G (p.Ser2243Ala)
c.6664T>G (p.Ser2222Ala)
c.5662T>G (p.Ser1888Ala)
c.110T>G
c.6863T>G (n.6863T>G)
c.64+167T>G
n.141T>G
c.6718T>G (p.Ser2240Ala)
c.6694T>G (p.Ser2232Ala)
c.6754T>G (p.Ser2252Ala)
17g.31338048C>ACA399014031NF1c.6710C>A (p.Ser2237Tyr)
c.1292C>A (p.Ser431Tyr)
n.1986C>A
c.884C>A (p.Ser295Tyr)
n.3373C>A
c.6758C>A (p.Ser2253Tyr)
c.6728C>A (p.Ser2243Tyr)
c.6665C>A (p.Ser2222Tyr)
c.5663C>A (p.Ser1888Tyr)
c.111C>A
c.6864C>A (n.6864C>A)
c.64+168C>A
n.142C>A
c.6719C>A (p.Ser2240Tyr)
c.6695C>A (p.Ser2232Tyr)
c.6755C>A (p.Ser2252Tyr)
 dbSNP
17g.31338048C>GCA399014032NF1c.6710C>G (p.Ser2237Cys)
c.1292C>G (p.Ser431Cys)
n.1986C>G
c.884C>G (p.Ser295Cys)
n.3373C>G
c.6758C>G (p.Ser2253Cys)
c.6728C>G (p.Ser2243Cys)
c.6665C>G (p.Ser2222Cys)
c.5663C>G (p.Ser1888Cys)
c.111C>G
c.6864C>G (n.6864C>G)
c.64+168C>G
n.142C>G
c.6719C>G (p.Ser2240Cys)
c.6695C>G (p.Ser2232Cys)
c.6755C>G (p.Ser2252Cys)
 ClinVar dbSNP
17g.31338048C>TCA399014033NF1c.6710C>T (p.Ser2237Phe)
c.1292C>T (p.Ser431Phe)
n.1986C>T
c.884C>T (p.Ser295Phe)
n.3373C>T
c.6758C>T (p.Ser2253Phe)
c.6728C>T (p.Ser2243Phe)
c.6665C>T (p.Ser2222Phe)
c.5663C>T (p.Ser1888Phe)
c.111C>T
c.6864C>T (n.6864C>T)
c.64+168C>T
n.142C>T
c.6719C>T (p.Ser2240Phe)
c.6695C>T (p.Ser2232Phe)
c.6755C>T (p.Ser2252Phe)
 dbSNP
17g.31338050delCA2576223673NF1c.6712del (p.Leu2238CysfsTer21)
c.1294del (p.Leu432CysfsTer21)
n.1988del
c.886del (p.Leu296CysfsTer21)
n.3375del
c.6760del (p.Leu2254CysfsTer21)
c.6730del (p.Leu2244CysfsTer21)
c.6667del (p.Leu2223CysfsTer21)
c.5665del (p.Leu1889CysfsTer21)
c.113del
c.6866del (n.6866del)
c.64+170del
n.144del
c.6721del (p.Leu2241CysfsTer21)
c.6697del (p.Leu2233CysfsTer21)
c.6757del (p.Leu2253CysfsTer21)
17g.31338049C>ACA499234257NF1c.6711C>A (p.Ser2237=)
c.1293C>A (p.Ser431=)
n.1987C>A
c.885C>A (p.Ser295=)
n.3374C>A
c.6759C>A (p.Ser2253=)
c.6729C>A (p.Ser2243=)
c.6666C>A (p.Ser2222=)
c.5664C>A (p.Ser1888=)
c.112C>A
c.6865C>A (n.6865C>A)
c.64+169C>A
n.143C>A
c.6720C>A (p.Ser2240=)
c.6696C>A (p.Ser2232=)
c.6756C>A (p.Ser2252=)
 dbSNP
17g.31338049C=CA2255602834NF1c.6711C= (p.Ser2237=)
c.1293C= (p.Ser431=)
n.1987C=
c.885C= (p.Ser295=)
n.3374C=
c.6759C= (p.Ser2253=)
c.6729C= (p.Ser2243=)
c.6666C= (p.Ser2222=)
c.5664C= (p.Ser1888=)
c.112C=
c.6865C= (n.6865C=)
c.64+169C=
n.143C=
c.6720C= (p.Ser2240=)
c.6696C= (p.Ser2232=)
c.6756C= (p.Ser2252=)
17g.31338049C>GCA499234258NF1c.6711C>G (p.Ser2237=)
c.1293C>G (p.Ser431=)
n.1987C>G
c.885C>G (p.Ser295=)
n.3374C>G
c.6759C>G (p.Ser2253=)
c.6729C>G (p.Ser2243=)
c.6666C>G (p.Ser2222=)
c.5664C>G (p.Ser1888=)
c.112C>G
c.6865C>G (n.6865C>G)
c.64+169C>G
n.143C>G
c.6720C>G (p.Ser2240=)
c.6696C>G (p.Ser2232=)
c.6756C>G (p.Ser2252=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31338049C>TCA499234259NF1c.6711C>T (p.Ser2237=)
c.1293C>T (p.Ser431=)
n.1987C>T
c.885C>T (p.Ser295=)
n.3374C>T
c.6759C>T (p.Ser2253=)
c.6729C>T (p.Ser2243=)
c.6666C>T (p.Ser2222=)
c.5664C>T (p.Ser1888=)
c.112C>T
c.6865C>T (n.6865C>T)
c.64+169C>T
n.143C>T
c.6720C>T (p.Ser2240=)
c.6696C>T (p.Ser2232=)
c.6756C>T (p.Ser2252=)
 ClinVar dbSNP
17g.31338050C>ACA399014035NF1c.6712C>A (p.Leu2238Met)
c.1294C>A (p.Leu432Met)
n.1988C>A
c.886C>A (p.Leu296Met)
n.3375C>A
c.6760C>A (p.Leu2254Met)
c.6730C>A (p.Leu2244Met)
c.6667C>A (p.Leu2223Met)
c.5665C>A (p.Leu1889Met)
c.113C>A
c.6866C>A (n.6866C>A)
c.64+170C>A
n.144C>A
c.6721C>A (p.Leu2241Met)
c.6697C>A (p.Leu2233Met)
c.6757C>A (p.Leu2253Met)
17g.31338050C=CA2255602835NF1c.6712C= (p.Leu2238=)
c.1294C= (p.Leu432=)
n.1988C=
c.886C= (p.Leu296=)
n.3375C=
c.6760C= (p.Leu2254=)
c.6730C= (p.Leu2244=)
c.6667C= (p.Leu2223=)
c.5665C= (p.Leu1889=)
c.113C=
c.6866C= (n.6866C=)
c.64+170C=
n.144C=
c.6721C= (p.Leu2241=)
c.6697C= (p.Leu2233=)
c.6757C= (p.Leu2253=)
17g.31338050C>GCA399014034NF1c.6712C>G (p.Leu2238Val)
c.1294C>G (p.Leu432Val)
n.1988C>G
c.886C>G (p.Leu296Val)
n.3375C>G
c.6760C>G (p.Leu2254Val)
c.6730C>G (p.Leu2244Val)
c.6667C>G (p.Leu2223Val)
c.5665C>G (p.Leu1889Val)
c.113C>G
c.6866C>G (n.6866C>G)
c.64+170C>G
n.144C>G
c.6721C>G (p.Leu2241Val)
c.6697C>G (p.Leu2233Val)
c.6757C>G (p.Leu2253Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338050C>TCA499234261NF1c.6712C>T (p.Leu2238=)
c.1294C>T (p.Leu432=)
n.1988C>T
c.886C>T (p.Leu296=)
n.3375C>T
c.6760C>T (p.Leu2254=)
c.6730C>T (p.Leu2244=)
c.6667C>T (p.Leu2223=)
c.5665C>T (p.Leu1889=)
c.113C>T
c.6866C>T (n.6866C>T)
c.64+170C>T
n.144C>T
c.6721C>T (p.Leu2241=)
c.6697C>T (p.Leu2233=)
c.6757C>T (p.Leu2253=)
 ClinVar dbSNP
17g.31338051T>ACA399014036NF1c.6713T>A (p.Leu2238Gln)
c.1295T>A (p.Leu432Gln)
n.1989T>A
c.887T>A (p.Leu296Gln)
n.3376T>A
c.6761T>A (p.Leu2254Gln)
c.6731T>A (p.Leu2244Gln)
c.6668T>A (p.Leu2223Gln)
c.5666T>A (p.Leu1889Gln)
c.114T>A
c.6867T>A (n.6867T>A)
c.64+171T>A
n.145T>A
c.6722T>A (p.Leu2241Gln)
c.6698T>A (p.Leu2233Gln)
c.6758T>A (p.Leu2253Gln)
 dbSNP
17g.31338051T>CCA399014037NF1c.6713T>C (p.Leu2238Pro)
c.1295T>C (p.Leu432Pro)
n.1989T>C
c.887T>C (p.Leu296Pro)
n.3376T>C
c.6761T>C (p.Leu2254Pro)
c.6731T>C (p.Leu2244Pro)
c.6668T>C (p.Leu2223Pro)
c.5666T>C (p.Leu1889Pro)
c.114T>C
c.6867T>C (n.6867T>C)
c.64+171T>C
n.145T>C
c.6722T>C (p.Leu2241Pro)
c.6698T>C (p.Leu2233Pro)
c.6758T>C (p.Leu2253Pro)
 dbSNP
17g.31338051T>GCA399014038NF1c.6713T>G (p.Leu2238Arg)
c.1295T>G (p.Leu432Arg)
n.1989T>G
c.887T>G (p.Leu296Arg)
n.3376T>G
c.6761T>G (p.Leu2254Arg)
c.6731T>G (p.Leu2244Arg)
c.6668T>G (p.Leu2223Arg)
c.5666T>G (p.Leu1889Arg)
c.114T>G
c.6867T>G (n.6867T>G)
c.64+171T>G
n.145T>G
c.6722T>G (p.Leu2241Arg)
c.6698T>G (p.Leu2233Arg)
c.6758T>G (p.Leu2253Arg)
17g.31338052delCA2499224200NF1c.6714del (p.Gln2239AsnfsTer20)
c.1296del (p.Gln433AsnfsTer20)
n.1990del
c.888del (p.Gln297AsnfsTer20)
n.3377del
c.6762del (p.Gln2255AsnfsTer20)
c.6732del (p.Gln2245AsnfsTer20)
c.6669del (p.Gln2224AsnfsTer20)
c.5667del (p.Gln1890AsnfsTer20)
c.115del
c.6868del (n.6868del)
c.64+172del
n.146del
c.6723del (p.Gln2242AsnfsTer20)
c.6699del (p.Gln2234AsnfsTer20)
c.6759del (p.Gln2254AsnfsTer20)
 ClinVar dbSNP
17g.31338052G>ACA10577037NF1c.6714G>A (p.Leu2238=)
c.1296G>A (p.Leu432=)
n.1990G>A
c.888G>A (p.Leu296=)
n.3377G>A
c.6762G>A (p.Leu2254=)
c.6732G>A (p.Leu2244=)
c.6669G>A (p.Leu2223=)
c.5667G>A (p.Leu1889=)
c.115G>A
c.6868G>A (n.6868G>A)
c.64+172G>A
n.146G>A
c.6723G>A (p.Leu2241=)
c.6699G>A (p.Leu2233=)
c.6759G>A (p.Leu2253=)
 ClinVar dbSNP
17g.31338052G>CCA499234262NF1c.6714G>C (p.Leu2238=)
c.1296G>C (p.Leu432=)
n.1990G>C
c.888G>C (p.Leu296=)
n.3377G>C
c.6762G>C (p.Leu2254=)
c.6732G>C (p.Leu2244=)
c.6669G>C (p.Leu2223=)
c.5667G>C (p.Leu1889=)
c.115G>C
c.6868G>C (n.6868G>C)
c.64+172G>C
n.146G>C
c.6723G>C (p.Leu2241=)
c.6699G>C (p.Leu2233=)
c.6759G>C (p.Leu2253=)
17g.31338052G=CA2255602836NF1c.6714G= (p.Leu2238=)
c.1296G= (p.Leu432=)
n.1990G=
c.888G= (p.Leu296=)
n.3377G=
c.6762G= (p.Leu2254=)
c.6732G= (p.Leu2244=)
c.6669G= (p.Leu2223=)
c.5667G= (p.Leu1889=)
c.115G=
c.6868G= (n.6868G=)
c.64+172G=
n.146G=
c.6723G= (p.Leu2241=)
c.6699G= (p.Leu2233=)
c.6759G= (p.Leu2253=)
17g.31338052G>TCA499234263NF1c.6714G>T (p.Leu2238=)
c.1296G>T (p.Leu432=)
n.1990G>T
c.888G>T (p.Leu296=)
n.3377G>T
c.6762G>T (p.Leu2254=)
c.6732G>T (p.Leu2244=)
c.6669G>T (p.Leu2223=)
c.5667G>T (p.Leu1889=)
c.115G>T
c.6868G>T (n.6868G>T)
c.64+172G>T
n.146G>T
c.6723G>T (p.Leu2241=)
c.6699G>T (p.Leu2233=)
c.6759G>T (p.Leu2253=)
17g.31338053delCA2503378453NF1c.6715del (p.Gln2239AsnfsTer20)
c.1297del (p.Gln433AsnfsTer20)
n.1991del
c.889del (p.Gln297AsnfsTer20)
n.3378del
c.6763del (p.Gln2255AsnfsTer20)
c.6733del (p.Gln2245AsnfsTer20)
c.6670del (p.Gln2224AsnfsTer20)
c.5668del (p.Gln1890AsnfsTer20)
c.116del
c.6869del (n.6869del)
c.64+173del
n.147del
c.6724del (p.Gln2242AsnfsTer20)
c.6700del (p.Gln2234AsnfsTer20)
c.6760del (p.Gln2254AsnfsTer20)
17g.31338053C>ACA399014039NF1c.6715C>A (p.Gln2239Lys)
c.1297C>A (p.Gln433Lys)
n.1991C>A
c.889C>A (p.Gln297Lys)
n.3378C>A
c.6763C>A (p.Gln2255Lys)
c.6733C>A (p.Gln2245Lys)
c.6670C>A (p.Gln2224Lys)
c.5668C>A (p.Gln1890Lys)
c.116C>A
c.6869C>A (n.6869C>A)
c.64+173C>A
n.147C>A
c.6724C>A (p.Gln2242Lys)
c.6700C>A (p.Gln2234Lys)
c.6760C>A (p.Gln2254Lys)
17g.31338053C=CA2255602837NF1c.6715C= (p.Gln2239=)
c.1297C= (p.Gln433=)
n.1991C=
c.889C= (p.Gln297=)
n.3378C=
c.6763C= (p.Gln2255=)
c.6733C= (p.Gln2245=)
c.6670C= (p.Gln2224=)
c.5668C= (p.Gln1890=)
c.116C=
c.6869C= (n.6869C=)
c.64+173C=
n.147C=
c.6724C= (p.Gln2242=)
c.6700C= (p.Gln2234=)
c.6760C= (p.Gln2254=)
17g.31338053C>GCA399014040NF1c.6715C>G (p.Gln2239Glu)
c.1297C>G (p.Gln433Glu)
n.1991C>G
c.889C>G (p.Gln297Glu)
n.3378C>G
c.6763C>G (p.Gln2255Glu)
c.6733C>G (p.Gln2245Glu)
c.6670C>G (p.Gln2224Glu)
c.5668C>G (p.Gln1890Glu)
c.116C>G
c.6869C>G (n.6869C>G)
c.64+173C>G
n.147C>G
c.6724C>G (p.Gln2242Glu)
c.6700C>G (p.Gln2234Glu)
c.6760C>G (p.Gln2254Glu)
17g.31338053C>TCA399014041NF1c.6715C>T (p.Gln2239Ter)
c.1297C>T (p.Gln433Ter)
n.1991C>T
c.889C>T (p.Gln297Ter)
n.3378C>T
c.6763C>T (p.Gln2255Ter)
c.6733C>T (p.Gln2245Ter)
c.6670C>T (p.Gln2224Ter)
c.5668C>T (p.Gln1890Ter)
c.116C>T
c.6869C>T (n.6869C>T)
c.64+173C>T
n.147C>T
c.6724C>T (p.Gln2242Ter)
c.6700C>T (p.Gln2234Ter)
c.6760C>T (p.Gln2254Ter)
 ClinVar dbSNP
17g.31338054A>CCA399014042NF1c.6716A>C (p.Gln2239Pro)
c.1298A>C (p.Gln433Pro)
n.1992A>C
c.890A>C (p.Gln297Pro)
n.3379A>C
c.6764A>C (p.Gln2255Pro)
c.6734A>C (p.Gln2245Pro)
c.6671A>C (p.Gln2224Pro)
c.5669A>C (p.Gln1890Pro)
c.117A>C
c.6870A>C (n.6870A>C)
c.64+174A>C
n.148A>C
c.6725A>C (p.Gln2242Pro)
c.6701A>C (p.Gln2234Pro)
c.6761A>C (p.Gln2254Pro)
17g.31338054A>GCA399014043NF1c.6716A>G (p.Gln2239Arg)
c.1298A>G (p.Gln433Arg)
n.1992A>G
c.890A>G (p.Gln297Arg)
n.3379A>G
c.6764A>G (p.Gln2255Arg)
c.6734A>G (p.Gln2245Arg)
c.6671A>G (p.Gln2224Arg)
c.5669A>G (p.Gln1890Arg)
c.117A>G
c.6870A>G (n.6870A>G)
c.64+174A>G
n.148A>G
c.6725A>G (p.Gln2242Arg)
c.6701A>G (p.Gln2234Arg)
c.6761A>G (p.Gln2254Arg)
17g.31338054A>TCA399014044NF1c.6716A>T (p.Gln2239Leu)
c.1298A>T (p.Gln433Leu)
n.1992A>T
c.890A>T (p.Gln297Leu)
n.3379A>T
c.6764A>T (p.Gln2255Leu)
c.6734A>T (p.Gln2245Leu)
c.6671A>T (p.Gln2224Leu)
c.5669A>T (p.Gln1890Leu)
c.117A>T
c.6870A>T (n.6870A>T)
c.64+174A>T
n.148A>T
c.6725A>T (p.Gln2242Leu)
c.6701A>T (p.Gln2234Leu)
c.6761A>T (p.Gln2254Leu)
 dbSNP
17g.31338055delCA2637077810NF1c.6717del (p.Gln2239HisfsTer20)
c.1299del (p.Gln433HisfsTer20)
n.1993del
c.891del (p.Gln297HisfsTer20)
n.3380del
c.6765del (p.Gln2255HisfsTer20)
c.6735del (p.Gln2245HisfsTer20)
c.6672del (p.Gln2224HisfsTer20)
c.5670del (p.Gln1890HisfsTer20)
c.118del
c.6871del (n.6871del)
c.64+175del
n.149del
c.6726del (p.Gln2242HisfsTer20)
c.6702del (p.Gln2234HisfsTer20)
c.6762del (p.Gln2254HisfsTer20)
 gnomAD v4
17g.31338055A=CA2255602838NF1c.6717A= (p.Gln2239=)
c.1299A= (p.Gln433=)
n.1993A=
c.891A= (p.Gln297=)
n.3380A=
c.6765A= (p.Gln2255=)
c.6735A= (p.Gln2245=)
c.6672A= (p.Gln2224=)
c.5670A= (p.Gln1890=)
c.118A=
c.6871A= (n.6871A=)
c.64+175A=
n.149A=
c.6726A= (p.Gln2242=)
c.6702A= (p.Gln2234=)
c.6762A= (p.Gln2254=)
17g.31338055A>CCA399014045NF1c.6717A>C (p.Gln2239His)
c.1299A>C (p.Gln433His)
n.1993A>C
c.891A>C (p.Gln297His)
n.3380A>C
c.6765A>C (p.Gln2255His)
c.6735A>C (p.Gln2245His)
c.6672A>C (p.Gln2224His)
c.5670A>C (p.Gln1890His)
c.118A>C
c.6871A>C (n.6871A>C)
c.64+175A>C
n.149A>C
c.6726A>C (p.Gln2242His)
c.6702A>C (p.Gln2234His)
c.6762A>C (p.Gln2254His)
17g.31338055A>GCA499234264NF1c.6717A>G (p.Gln2239=)
c.1299A>G (p.Gln433=)
n.1993A>G
c.891A>G (p.Gln297=)
n.3380A>G
c.6765A>G (p.Gln2255=)
c.6735A>G (p.Gln2245=)
c.6672A>G (p.Gln2224=)
c.5670A>G (p.Gln1890=)
c.118A>G
c.6871A>G (n.6871A>G)
c.64+175A>G
n.149A>G
c.6726A>G (p.Gln2242=)
c.6702A>G (p.Gln2234=)
c.6762A>G (p.Gln2254=)
 dbSNP gnomAD v2
17g.31338055A>TCA399014046NF1c.6717A>T (p.Gln2239His)
c.1299A>T (p.Gln433His)
n.1993A>T
c.891A>T (p.Gln297His)
n.3380A>T
c.6765A>T (p.Gln2255His)
c.6735A>T (p.Gln2245His)
c.6672A>T (p.Gln2224His)
c.5670A>T (p.Gln1890His)
c.118A>T
c.6871A>T (n.6871A>T)
c.64+175A>T
n.149A>T
c.6726A>T (p.Gln2242His)
c.6702A>T (p.Gln2234His)
c.6762A>T (p.Gln2254His)
17g.31338056C>ACA399014049NF1c.6718C>A (p.Pro2240Thr)
c.1300C>A (p.Pro434Thr)
n.1994C>A
c.892C>A (p.Pro298Thr)
n.3381C>A
c.6766C>A (p.Pro2256Thr)
c.6736C>A (p.Pro2246Thr)
c.6673C>A (p.Pro2225Thr)
c.5671C>A (p.Pro1891Thr)
c.119C>A
c.6872C>A (n.6872C>A)
c.64+176C>A
n.150C>A
c.6727C>A (p.Pro2243Thr)
c.6703C>A (p.Pro2235Thr)
c.6763C>A (p.Pro2255Thr)
 ClinVar dbSNP
17g.31338056C>GCA399014048NF1c.6718C>G (p.Pro2240Ala)
c.1300C>G (p.Pro434Ala)
n.1994C>G
c.892C>G (p.Pro298Ala)
n.3381C>G
c.6766C>G (p.Pro2256Ala)
c.6736C>G (p.Pro2246Ala)
c.6673C>G (p.Pro2225Ala)
c.5671C>G (p.Pro1891Ala)
c.119C>G
c.6872C>G (n.6872C>G)
c.64+176C>G
n.150C>G
c.6727C>G (p.Pro2243Ala)
c.6703C>G (p.Pro2235Ala)
c.6763C>G (p.Pro2255Ala)
 dbSNP
17g.31338056C>TCA399014047NF1c.6718C>T (p.Pro2240Ser)
c.1300C>T (p.Pro434Ser)
n.1994C>T
c.892C>T (p.Pro298Ser)
n.3381C>T
c.6766C>T (p.Pro2256Ser)
c.6736C>T (p.Pro2246Ser)
c.6673C>T (p.Pro2225Ser)
c.5671C>T (p.Pro1891Ser)
c.119C>T
c.6872C>T (n.6872C>T)
c.64+176C>T
n.150C>T
c.6727C>T (p.Pro2243Ser)
c.6703C>T (p.Pro2235Ser)
c.6763C>T (p.Pro2255Ser)
 dbSNP
17g.31338056_31338057delCA2697559606NF1c.6718_6719del (p.Pro2240LysfsTer10)
c.1300_1301del (p.Pro434LysfsTer10)
n.1994_1995del
c.892_893del (p.Pro298LysfsTer10)
n.3381_3382del
c.6766_6767del (p.Pro2256LysfsTer10)
c.6736_6737del (p.Pro2246LysfsTer10)
c.6673_6674del (p.Pro2225LysfsTer10)
c.5671_5672del (p.Pro1891LysfsTer10)
c.119_120del
c.6872_6873del (n.6872_6873del)
c.64+176_64+177del
n.150_151del
c.6727_6728del (p.Pro2243LysfsTer10)
c.6703_6704del (p.Pro2235LysfsTer10)
c.6763_6764del (p.Pro2255LysfsTer10)
 ClinVar
17g.31338057delCA2573153864NF1c.6719del (p.Pro2240GlnfsTer19)
c.1301del (p.Pro434GlnfsTer19)
n.1995del
c.893del (p.Pro298GlnfsTer19)
n.3382del
c.6767del (p.Pro2256GlnfsTer19)
c.6737del (p.Pro2246GlnfsTer19)
c.6674del (p.Pro2225GlnfsTer19)
c.5672del (p.Pro1891GlnfsTer19)
c.120del
c.6873del (n.6873del)
c.64+177del
n.151del
c.6728del (p.Pro2243GlnfsTer19)
c.6704del (p.Pro2235GlnfsTer19)
c.6764del (p.Pro2255GlnfsTer19)
 ClinVar dbSNP
17g.31338057C>ACA399014050NF1c.6719C>A (p.Pro2240Gln)
c.1301C>A (p.Pro434Gln)
n.1995C>A
c.893C>A (p.Pro298Gln)
n.3382C>A
c.6767C>A (p.Pro2256Gln)
c.6737C>A (p.Pro2246Gln)
c.6674C>A (p.Pro2225Gln)
c.5672C>A (p.Pro1891Gln)
c.120C>A
c.6873C>A (n.6873C>A)
c.64+177C>A
n.151C>A
c.6728C>A (p.Pro2243Gln)
c.6704C>A (p.Pro2235Gln)
c.6764C>A (p.Pro2255Gln)
 dbSNP
17g.31338057C>GCA399014051NF1c.6719C>G (p.Pro2240Arg)
c.1301C>G (p.Pro434Arg)
n.1995C>G
c.893C>G (p.Pro298Arg)
n.3382C>G
c.6767C>G (p.Pro2256Arg)
c.6737C>G (p.Pro2246Arg)
c.6674C>G (p.Pro2225Arg)
c.5672C>G (p.Pro1891Arg)
c.120C>G
c.6873C>G (n.6873C>G)
c.64+177C>G
n.151C>G
c.6728C>G (p.Pro2243Arg)
c.6704C>G (p.Pro2235Arg)
c.6764C>G (p.Pro2255Arg)
 dbSNP
17g.31338057C>TCA399014052NF1c.6719C>T (p.Pro2240Leu)
c.1301C>T (p.Pro434Leu)
n.1995C>T
c.893C>T (p.Pro298Leu)
n.3382C>T
c.6767C>T (p.Pro2256Leu)
c.6737C>T (p.Pro2246Leu)
c.6674C>T (p.Pro2225Leu)
c.5672C>T (p.Pro1891Leu)
c.120C>T
c.6873C>T (n.6873C>T)
c.64+177C>T
n.151C>T
c.6728C>T (p.Pro2243Leu)
c.6704C>T (p.Pro2235Leu)
c.6764C>T (p.Pro2255Leu)
 dbSNP
17g.31338058A>CCA499234265NF1c.6720A>C (p.Pro2240=)
c.1302A>C (p.Pro434=)
n.1996A>C
c.894A>C (p.Pro298=)
n.3383A>C
c.6768A>C (p.Pro2256=)
c.6738A>C (p.Pro2246=)
c.6675A>C (p.Pro2225=)
c.5673A>C (p.Pro1891=)
c.121A>C
c.6874A>C (n.6874A>C)
c.64+178A>C
n.152A>C
c.6729A>C (p.Pro2243=)
c.6705A>C (p.Pro2235=)
c.6765A>C (p.Pro2255=)
17g.31338058A>GCA499234266NF1c.6720A>G (p.Pro2240=)
c.1302A>G (p.Pro434=)
n.1996A>G
c.894A>G (p.Pro298=)
n.3383A>G
c.6768A>G (p.Pro2256=)
c.6738A>G (p.Pro2246=)
c.6675A>G (p.Pro2225=)
c.5673A>G (p.Pro1891=)
c.121A>G
c.6874A>G (n.6874A>G)
c.64+178A>G
n.152A>G
c.6729A>G (p.Pro2243=)
c.6705A>G (p.Pro2235=)
c.6765A>G (p.Pro2255=)
 ClinVar dbSNP
17g.31338058A>TCA499234267NF1c.6720A>T (p.Pro2240=)
c.1302A>T (p.Pro434=)
n.1996A>T
c.894A>T (p.Pro298=)
n.3383A>T
c.6768A>T (p.Pro2256=)
c.6738A>T (p.Pro2246=)
c.6675A>T (p.Pro2225=)
c.5673A>T (p.Pro1891=)
c.121A>T
c.6874A>T (n.6874A>T)
c.64+178A>T
n.152A>T
c.6729A>T (p.Pro2243=)
c.6705A>T (p.Pro2235=)
c.6765A>T (p.Pro2255=)
17g.31338059A=CA2255602839NF1c.6721A= (p.Arg2241=)
c.1303A= (p.Arg435=)
n.1997A=
c.895A= (p.Arg299=)
n.3384A=
c.6769A= (p.Arg2257=)
c.6739A= (p.Arg2247=)
c.6676A= (p.Arg2226=)
c.5674A= (p.Arg1892=)
c.122A=
c.6875A= (n.6875A=)
c.64+179A=
n.153A=
c.6730A= (p.Arg2244=)
c.6706A= (p.Arg2236=)
c.6766A= (p.Arg2256=)
17g.31338059A>CCA499234268NF1c.6721A>C (p.Arg2241=)
c.1303A>C (p.Arg435=)
n.1997A>C
c.895A>C (p.Arg299=)
n.3384A>C
c.6769A>C (p.Arg2257=)
c.6739A>C (p.Arg2247=)
c.6676A>C (p.Arg2226=)
c.5674A>C (p.Arg1892=)
c.122A>C
c.6875A>C (n.6875A>C)
c.64+179A>C
n.153A>C
c.6730A>C (p.Arg2244=)
c.6706A>C (p.Arg2236=)
c.6766A>C (p.Arg2256=)
 ClinVar dbSNP
17g.31338059A>GCA399014053NF1c.6721A>G (p.Arg2241Gly)
c.1303A>G (p.Arg435Gly)
n.1997A>G
c.895A>G (p.Arg299Gly)
n.3384A>G
c.6769A>G (p.Arg2257Gly)
c.6739A>G (p.Arg2247Gly)
c.6676A>G (p.Arg2226Gly)
c.5674A>G (p.Arg1892Gly)
c.122A>G
c.6875A>G (n.6875A>G)
c.64+179A>G
n.153A>G
c.6730A>G (p.Arg2244Gly)
c.6706A>G (p.Arg2236Gly)
c.6766A>G (p.Arg2256Gly)
 dbSNP
17g.31338059A>TCA399014054NF1c.6721A>T (p.Arg2241Ter)
c.1303A>T (p.Arg435Ter)
n.1997A>T
c.895A>T (p.Arg299Ter)
n.3384A>T
c.6769A>T (p.Arg2257Ter)
c.6739A>T (p.Arg2247Ter)
c.6676A>T (p.Arg2226Ter)
c.5674A>T (p.Arg1892Ter)
c.122A>T
c.6875A>T (n.6875A>T)
c.64+179A>T
n.153A>T
c.6730A>T (p.Arg2244Ter)
c.6706A>T (p.Arg2236Ter)
c.6766A>T (p.Arg2256Ter)
 dbSNP
17g.31338060G>ACA399014055NF1c.6722G>A (p.Arg2241Lys)
c.1304G>A (p.Arg435Lys)
n.1998G>A
c.896G>A (p.Arg299Lys)
n.3385G>A
c.6770G>A (p.Arg2257Lys)
c.6740G>A (p.Arg2247Lys)
c.6677G>A (p.Arg2226Lys)
c.5675G>A (p.Arg1892Lys)
c.123G>A
c.6876G>A (n.6876G>A)
c.64+180G>A
n.154G>A
c.6731G>A (p.Arg2244Lys)
c.6707G>A (p.Arg2236Lys)
c.6767G>A (p.Arg2256Lys)
 dbSNP
17g.31338060G>CCA399014056NF1c.6722G>C (p.Arg2241Thr)
c.1304G>C (p.Arg435Thr)
n.1998G>C
c.896G>C (p.Arg299Thr)
n.3385G>C
c.6770G>C (p.Arg2257Thr)
c.6740G>C (p.Arg2247Thr)
c.6677G>C (p.Arg2226Thr)
c.5675G>C (p.Arg1892Thr)
c.123G>C
c.6876G>C (n.6876G>C)
c.64+180G>C
n.154G>C
c.6731G>C (p.Arg2244Thr)
c.6707G>C (p.Arg2236Thr)
c.6767G>C (p.Arg2256Thr)
 dbSNP
17g.31338060G>TCA399014057NF1c.6722G>T (p.Arg2241Ile)
c.1304G>T (p.Arg435Ile)
n.1998G>T
c.896G>T (p.Arg299Ile)
n.3385G>T
c.6770G>T (p.Arg2257Ile)
c.6740G>T (p.Arg2247Ile)
c.6677G>T (p.Arg2226Ile)
c.5675G>T (p.Arg1892Ile)
c.123G>T
c.6876G>T (n.6876G>T)
c.64+180G>T
n.154G>T
c.6731G>T (p.Arg2244Ile)
c.6707G>T (p.Arg2236Ile)
c.6767G>T (p.Arg2256Ile)
17g.31338061delCA2580093137NF1c.6723del (p.Ala2242LeufsTer17)
c.1305del (p.Ala436LeufsTer17)
n.1999del
c.897del (p.Ala300LeufsTer17)
n.3386del
c.6771del (p.Ala2258LeufsTer17)
c.6741del (p.Ala2248LeufsTer17)
c.6678del (p.Ala2227LeufsTer17)
c.5676del (p.Ala1893LeufsTer17)
c.124del
c.6877del (n.6877del)
c.64+181del
n.155del
c.6732del (p.Ala2245LeufsTer17)
c.6708del (p.Ala2237LeufsTer17)
c.6768del (p.Ala2257LeufsTer17)
 ClinVar
17g.31338061A>CCA399014058NF1c.6723A>C (p.Arg2241Ser)
c.1305A>C (p.Arg435Ser)
n.1999A>C
c.897A>C (p.Arg299Ser)
n.3386A>C
c.6771A>C (p.Arg2257Ser)
c.6741A>C (p.Arg2247Ser)
c.6678A>C (p.Arg2226Ser)
c.5676A>C (p.Arg1892Ser)
c.124A>C
c.6877A>C (n.6877A>C)
c.64+181A>C
n.155A>C
c.6732A>C (p.Arg2244Ser)
c.6708A>C (p.Arg2236Ser)
c.6768A>C (p.Arg2256Ser)
17g.31338061A>GCA499234269NF1c.6723A>G (p.Arg2241=)
c.1305A>G (p.Arg435=)
n.1999A>G
c.897A>G (p.Arg299=)
n.3386A>G
c.6771A>G (p.Arg2257=)
c.6741A>G (p.Arg2247=)
c.6678A>G (p.Arg2226=)
c.5676A>G (p.Arg1892=)
c.124A>G
c.6877A>G (n.6877A>G)
c.64+181A>G
n.155A>G
c.6732A>G (p.Arg2244=)
c.6708A>G (p.Arg2236=)
c.6768A>G (p.Arg2256=)
 dbSNP gnomAD v4
17g.31338061A>TCA399014059NF1c.6723A>T (p.Arg2241Ser)
c.1305A>T (p.Arg435Ser)
n.1999A>T
c.897A>T (p.Arg299Ser)
n.3386A>T
c.6771A>T (p.Arg2257Ser)
c.6741A>T (p.Arg2247Ser)
c.6678A>T (p.Arg2226Ser)
c.5676A>T (p.Arg1892Ser)
c.124A>T
c.6877A>T (n.6877A>T)
c.64+181A>T
n.155A>T
c.6732A>T (p.Arg2244Ser)
c.6708A>T (p.Arg2236Ser)
c.6768A>T (p.Arg2256Ser)
 dbSNP
17g.31338062G>ACA399014060NF1c.6724G>A (p.Ala2242Thr)
c.1306G>A (p.Ala436Thr)
n.2000G>A
c.898G>A (p.Ala300Thr)
n.3387G>A
c.6772G>A (p.Ala2258Thr)
c.6742G>A (p.Ala2248Thr)
c.6679G>A (p.Ala2227Thr)
c.5677G>A (p.Ala1893Thr)
c.125G>A
c.6878G>A (n.6878G>A)
c.64+182G>A
n.156G>A
c.6733G>A (p.Ala2245Thr)
c.6709G>A (p.Ala2237Thr)
c.6769G>A (p.Ala2257Thr)
 dbSNP
17g.31338062G>CCA399014061NF1c.6724G>C (p.Ala2242Pro)
c.1306G>C (p.Ala436Pro)
n.2000G>C
c.898G>C (p.Ala300Pro)
n.3387G>C
c.6772G>C (p.Ala2258Pro)
c.6742G>C (p.Ala2248Pro)
c.6679G>C (p.Ala2227Pro)
c.5677G>C (p.Ala1893Pro)
c.125G>C
c.6878G>C (n.6878G>C)
c.64+182G>C
n.156G>C
c.6733G>C (p.Ala2245Pro)
c.6709G>C (p.Ala2237Pro)
c.6769G>C (p.Ala2257Pro)
 dbSNP
17g.31338062G>TCA399014062NF1c.6724G>T (p.Ala2242Ser)
c.1306G>T (p.Ala436Ser)
n.2000G>T
c.898G>T (p.Ala300Ser)
n.3387G>T
c.6772G>T (p.Ala2258Ser)
c.6742G>T (p.Ala2248Ser)
c.6679G>T (p.Ala2227Ser)
c.5677G>T (p.Ala1893Ser)
c.125G>T
c.6878G>T (n.6878G>T)
c.64+182G>T
n.156G>T
c.6733G>T (p.Ala2245Ser)
c.6709G>T (p.Ala2237Ser)
c.6769G>T (p.Ala2257Ser)
17g.31338063C>ACA399014063NF1c.6725C>A (p.Ala2242Asp)
c.1307C>A (p.Ala436Asp)
n.2001C>A
c.899C>A (p.Ala300Asp)
n.3388C>A
c.6773C>A (p.Ala2258Asp)
c.6743C>A (p.Ala2248Asp)
c.6680C>A (p.Ala2227Asp)
c.5678C>A (p.Ala1893Asp)
c.126C>A
c.6879C>A (n.6879C>A)
c.64+183C>A
n.157C>A
c.6734C>A (p.Ala2245Asp)
c.6710C>A (p.Ala2237Asp)
c.6770C>A (p.Ala2257Asp)
 dbSNP
17g.31338063C>GCA399014065NF1c.6725C>G (p.Ala2242Gly)
c.1307C>G (p.Ala436Gly)
n.2001C>G
c.899C>G (p.Ala300Gly)
n.3388C>G
c.6773C>G (p.Ala2258Gly)
c.6743C>G (p.Ala2248Gly)
c.6680C>G (p.Ala2227Gly)
c.5678C>G (p.Ala1893Gly)
c.126C>G
c.6879C>G (n.6879C>G)
c.64+183C>G
n.157C>G
c.6734C>G (p.Ala2245Gly)
c.6710C>G (p.Ala2237Gly)
c.6770C>G (p.Ala2257Gly)
 dbSNP
17g.31338063C>TCA399014064NF1c.6725C>T (p.Ala2242Val)
c.1307C>T (p.Ala436Val)
n.2001C>T
c.899C>T (p.Ala300Val)
n.3388C>T
c.6773C>T (p.Ala2258Val)
c.6743C>T (p.Ala2248Val)
c.6680C>T (p.Ala2227Val)
c.5678C>T (p.Ala1893Val)
c.126C>T
c.6879C>T (n.6879C>T)
c.64+183C>T
n.157C>T
c.6734C>T (p.Ala2245Val)
c.6710C>T (p.Ala2237Val)
c.6770C>T (p.Ala2257Val)
17g.31338063_31338071delinsCTCTTGTTGCA2255602840NF1c.6725_6733delinsCTCTTGTTG (p.Ala2242=)
c.1307_1315delinsCTCTTGTTG (p.Ala436=)
n.2001_2009delinsCTCTTGTTG
c.899_907delinsCTCTTGTTG (p.Ala300=)
n.3388_3396delinsCTCTTGTTG
c.6773_6781delinsCTCTTGTTG (p.Ala2258=)
c.6743_6751delinsCTCTTGTTG (p.Ala2248=)
c.6680_6688delinsCTCTTGTTG (p.Ala2227=)
c.5678_5686delinsCTCTTGTTG (p.Ala1893=)
c.126_134delinsCTCTTGTTG
c.6879_6887delinsCTCTTGTTG (n.6879_6887delinsCTCTTGTTG)
c.64+183_64+191delinsCTCTTGTTG
n.157_165delinsCTCTTGTTG
c.6734_6742delinsCTCTTGTTG (p.Ala2245=)
c.6710_6718delinsCTCTTGTTG (p.Ala2237=)
c.6770_6778delinsCTCTTGTTG (p.Ala2257=)
17g.31338064T>ACA10583519NF1c.6726T>A (p.Ala2242=)
c.1308T>A (p.Ala436=)
n.2002T>A
c.900T>A (p.Ala300=)
n.3389T>A
c.6774T>A (p.Ala2258=)
c.6744T>A (p.Ala2248=)
c.6681T>A (p.Ala2227=)
c.5679T>A (p.Ala1893=)
c.127T>A
c.6880T>A (n.6880T>A)
c.64+184T>A
n.158T>A
c.6735T>A (p.Ala2245=)
c.6711T>A (p.Ala2237=)
c.6771T>A (p.Ala2257=)
 ClinVar dbSNP
17g.31338064T>CCA499234270NF1c.6726T>C (p.Ala2242=)
c.1308T>C (p.Ala436=)
n.2002T>C
c.900T>C (p.Ala300=)
n.3389T>C
c.6774T>C (p.Ala2258=)
c.6744T>C (p.Ala2248=)
c.6681T>C (p.Ala2227=)
c.5679T>C (p.Ala1893=)
c.127T>C
c.6880T>C (n.6880T>C)
c.64+184T>C
n.158T>C
c.6735T>C (p.Ala2245=)
c.6711T>C (p.Ala2237=)
c.6771T>C (p.Ala2257=)
17g.31338064T>GCA499234271NF1c.6726T>G (p.Ala2242=)
c.1308T>G (p.Ala436=)
n.2002T>G
c.900T>G (p.Ala300=)
n.3389T>G
c.6774T>G (p.Ala2258=)
c.6744T>G (p.Ala2248=)
c.6681T>G (p.Ala2227=)
c.5679T>G (p.Ala1893=)
c.127T>G
c.6880T>G (n.6880T>G)
c.64+184T>G
n.158T>G
c.6735T>G (p.Ala2245=)
c.6711T>G (p.Ala2237=)
c.6771T>G (p.Ala2257=)
 ClinVar dbSNP
17g.31338064T=CA2255602841NF1c.6726T= (p.Ala2242=)
c.1308T= (p.Ala436=)
n.2002T=
c.900T= (p.Ala300=)
n.3389T=
c.6774T= (p.Ala2258=)
c.6744T= (p.Ala2248=)
c.6681T= (p.Ala2227=)
c.5679T= (p.Ala1893=)
c.127T=
c.6880T= (n.6880T=)
c.64+184T=
n.158T=
c.6735T= (p.Ala2245=)
c.6711T= (p.Ala2237=)
c.6771T= (p.Ala2257=)
17g.31338068_31338075delCA982981222NF1c.6730_6737del (p.Val2244TrpfsTer4)
c.1312_1319del (p.Val438TrpfsTer4)
n.2006_2013del
c.904_911del (p.Val302TrpfsTer4)
n.3393_3400del
c.6778_6785del (p.Val2260TrpfsTer4)
c.6748_6755del (p.Val2250TrpfsTer4)
c.6685_6692del (p.Val2229TrpfsTer4)
c.5683_5690del (p.Val1895TrpfsTer4)
c.131_138del
c.6884_6891del (n.6884_6891del)
c.64+188_64+195del
n.162_169del
c.6739_6746del (p.Val2247TrpfsTer4)
c.6715_6722del (p.Val2239TrpfsTer4)
c.6775_6782del (p.Val2259TrpfsTer4)
 dbSNP gnomAD v3 gnomAD v4
17g.31338065C>ACA399014066NF1c.6727C>A (p.Leu2243Ile)
c.1309C>A (p.Leu437Ile)
n.2003C>A
c.901C>A (p.Leu301Ile)
n.3390C>A
c.6775C>A (p.Leu2259Ile)
c.6745C>A (p.Leu2249Ile)
c.6682C>A (p.Leu2228Ile)
c.5680C>A (p.Leu1894Ile)
c.128C>A
c.6881C>A (n.6881C>A)
c.64+185C>A
n.159C>A
c.6736C>A (p.Leu2246Ile)
c.6712C>A (p.Leu2238Ile)
c.6772C>A (p.Leu2258Ile)
 dbSNP
17g.31338065C>GCA399014067NF1c.6727C>G (p.Leu2243Val)
c.1309C>G (p.Leu437Val)
n.2003C>G
c.901C>G (p.Leu301Val)
n.3390C>G
c.6775C>G (p.Leu2259Val)
c.6745C>G (p.Leu2249Val)
c.6682C>G (p.Leu2228Val)
c.5680C>G (p.Leu1894Val)
c.128C>G
c.6881C>G (n.6881C>G)
c.64+185C>G
n.159C>G
c.6736C>G (p.Leu2246Val)
c.6712C>G (p.Leu2238Val)
c.6772C>G (p.Leu2258Val)
 dbSNP gnomAD v4
17g.31338065C>TCA399014068NF1c.6727C>T (p.Leu2243Phe)
c.1309C>T (p.Leu437Phe)
n.2003C>T
c.901C>T (p.Leu301Phe)
n.3390C>T
c.6775C>T (p.Leu2259Phe)
c.6745C>T (p.Leu2249Phe)
c.6682C>T (p.Leu2228Phe)
c.5680C>T (p.Leu1894Phe)
c.128C>T
c.6881C>T (n.6881C>T)
c.64+185C>T
n.159C>T
c.6736C>T (p.Leu2246Phe)
c.6712C>T (p.Leu2238Phe)
c.6772C>T (p.Leu2258Phe)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31338065_31338068delinsCTTGCA2255602842NF1c.6727_6730delinsCTTG (p.Leu2243=)
c.1309_1312delinsCTTG (p.Leu437=)
n.2003_2006delinsCTTG
c.901_904delinsCTTG (p.Leu301=)
n.3390_3393delinsCTTG
c.6775_6778delinsCTTG (p.Leu2259=)
c.6745_6748delinsCTTG (p.Leu2249=)
c.6682_6685delinsCTTG (p.Leu2228=)
c.5680_5683delinsCTTG (p.Leu1894=)
c.128_131delinsCTTG
c.6881_6884delinsCTTG (n.6881_6884delinsCTTG)
c.64+185_64+188delinsCTTG
n.159_162delinsCTTG
c.6736_6739delinsCTTG (p.Leu2246=)
c.6712_6715delinsCTTG (p.Leu2238=)
c.6772_6775delinsCTTG (p.Leu2258=)
17g.31338066T>ACA399014069NF1c.6728T>A (p.Leu2243His)
c.1310T>A (p.Leu437His)
n.2004T>A
c.902T>A (p.Leu301His)
n.3391T>A
c.6776T>A (p.Leu2259His)
c.6746T>A (p.Leu2249His)
c.6683T>A (p.Leu2228His)
c.5681T>A (p.Leu1894His)
c.129T>A
c.6882T>A (n.6882T>A)
c.64+186T>A
n.160T>A
c.6737T>A (p.Leu2246His)
c.6713T>A (p.Leu2238His)
c.6773T>A (p.Leu2258His)
 dbSNP
17g.31338066T>CCA399014070NF1c.6728T>C (p.Leu2243Pro)
c.1310T>C (p.Leu437Pro)
n.2004T>C
c.902T>C (p.Leu301Pro)
n.3391T>C
c.6776T>C (p.Leu2259Pro)
c.6746T>C (p.Leu2249Pro)
c.6683T>C (p.Leu2228Pro)
c.5681T>C (p.Leu1894Pro)
c.129T>C
c.6882T>C (n.6882T>C)
c.64+186T>C
n.160T>C
c.6737T>C (p.Leu2246Pro)
c.6713T>C (p.Leu2238Pro)
c.6773T>C (p.Leu2258Pro)
17g.31338066T>GCA399014071NF1c.6728T>G (p.Leu2243Arg)
c.1310T>G (p.Leu437Arg)
n.2004T>G
c.902T>G (p.Leu301Arg)
n.3391T>G
c.6776T>G (p.Leu2259Arg)
c.6746T>G (p.Leu2249Arg)
c.6683T>G (p.Leu2228Arg)
c.5681T>G (p.Leu1894Arg)
c.129T>G
c.6882T>G (n.6882T>G)
c.64+186T>G
n.160T>G
c.6737T>G (p.Leu2246Arg)
c.6713T>G (p.Leu2238Arg)
c.6773T>G (p.Leu2258Arg)
 ClinVar dbSNP
17g.31338067delCA2499224201NF1c.6729del (p.Val2244LeufsTer15)
c.1311del (p.Val438LeufsTer15)
n.2005del
c.903del (p.Val302LeufsTer15)
n.3392del
c.6777del (p.Val2260LeufsTer15)
c.6747del (p.Val2250LeufsTer15)
c.6684del (p.Val2229LeufsTer15)
c.5682del (p.Val1895LeufsTer15)
c.130del
c.6883del (n.6883del)
c.64+187del
n.161del
c.6738del (p.Val2247LeufsTer15)
c.6714del (p.Val2239LeufsTer15)
c.6774del (p.Val2259LeufsTer15)
 ClinVar dbSNP
17g.31338070_31338072delCA645572247NF1c.6732_6734del (p.Val2245del)
c.1314_1316del (p.Val439del)
n.2008_2010del
c.906_908del (p.Val303del)
n.3395_3397del
c.6780_6782del (p.Val2261del)
c.6750_6752del (p.Val2251del)
c.6687_6689del (p.Val2230del)
c.5685_5687del (p.Val1896del)
c.133_135del
c.6886_6888del (n.6886_6888del)
c.64+190_64+192del
n.164_166del
c.6741_6743del (p.Val2248del)
c.6717_6719del (p.Val2240del)
c.6777_6779del (p.Val2260del)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31338067T>ACA499234272NF1c.6729T>A (p.Leu2243=)
c.1311T>A (p.Leu437=)
n.2005T>A
c.903T>A (p.Leu301=)
n.3392T>A
c.6777T>A (p.Leu2259=)
c.6747T>A (p.Leu2249=)
c.6684T>A (p.Leu2228=)
c.5682T>A (p.Leu1894=)
c.130T>A
c.6883T>A (n.6883T>A)
c.64+187T>A
n.161T>A
c.6738T>A (p.Leu2246=)
c.6714T>A (p.Leu2238=)
c.6774T>A (p.Leu2258=)
 dbSNP gnomAD v4
17g.31338067T>CCA499234274NF1c.6729T>C (p.Leu2243=)
c.1311T>C (p.Leu437=)
n.2005T>C
c.903T>C (p.Leu301=)
n.3392T>C
c.6777T>C (p.Leu2259=)
c.6747T>C (p.Leu2249=)
c.6684T>C (p.Leu2228=)
c.5682T>C (p.Leu1894=)
c.130T>C
c.6883T>C (n.6883T>C)
c.64+187T>C
n.161T>C
c.6738T>C (p.Leu2246=)
c.6714T>C (p.Leu2238=)
c.6774T>C (p.Leu2258=)
 ClinVar
17g.31338067T>GCA499234273NF1c.6729T>G (p.Leu2243=)
c.1311T>G (p.Leu437=)
n.2005T>G
c.903T>G (p.Leu301=)
n.3392T>G
c.6777T>G (p.Leu2259=)
c.6747T>G (p.Leu2249=)
c.6684T>G (p.Leu2228=)
c.5682T>G (p.Leu1894=)
c.130T>G
c.6883T>G (n.6883T>G)
c.64+187T>G
n.161T>G
c.6738T>G (p.Leu2246=)
c.6714T>G (p.Leu2238=)
c.6774T>G (p.Leu2258=)
17g.31338068G>ACA399014072NF1c.6730G>A (p.Val2244Ile)
c.1312G>A (p.Val438Ile)
n.2006G>A
c.904G>A (p.Val302Ile)
n.3393G>A
c.6778G>A (p.Val2260Ile)
c.6748G>A (p.Val2250Ile)
c.6685G>A (p.Val2229Ile)
c.5683G>A (p.Val1895Ile)
c.131G>A
c.6884G>A (n.6884G>A)
c.64+188G>A
n.162G>A
c.6739G>A (p.Val2247Ile)
c.6715G>A (p.Val2239Ile)
c.6775G>A (p.Val2259Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338068G>CCA399014073NF1c.6730G>C (p.Val2244Leu)
c.1312G>C (p.Val438Leu)
n.2006G>C
c.904G>C (p.Val302Leu)
n.3393G>C
c.6778G>C (p.Val2260Leu)
c.6748G>C (p.Val2250Leu)
c.6685G>C (p.Val2229Leu)
c.5683G>C (p.Val1895Leu)
c.131G>C
c.6884G>C (n.6884G>C)
c.64+188G>C
n.162G>C
c.6739G>C (p.Val2247Leu)
c.6715G>C (p.Val2239Leu)
c.6775G>C (p.Val2259Leu)
 ClinVar dbSNP
17g.31338068G=CA2255602843NF1c.6730G= (p.Val2244=)
c.1312G= (p.Val438=)
n.2006G=
c.904G= (p.Val302=)
n.3393G=
c.6778G= (p.Val2260=)
c.6748G= (p.Val2250=)
c.6685G= (p.Val2229=)
c.5683G= (p.Val1895=)
c.131G=
c.6884G= (n.6884G=)
c.64+188G=
n.162G=
c.6739G= (p.Val2247=)
c.6715G= (p.Val2239=)
c.6775G= (p.Val2259=)
17g.31338068G>TCA399014074NF1c.6730G>T (p.Val2244Phe)
c.1312G>T (p.Val438Phe)
n.2006G>T
c.904G>T (p.Val302Phe)
n.3393G>T
c.6778G>T (p.Val2260Phe)
c.6748G>T (p.Val2250Phe)
c.6685G>T (p.Val2229Phe)
c.5683G>T (p.Val1895Phe)
c.131G>T
c.6884G>T (n.6884G>T)
c.64+188G>T
n.162G>T
c.6739G>T (p.Val2247Phe)
c.6715G>T (p.Val2239Phe)
c.6775G>T (p.Val2259Phe)
 ClinVar dbSNP
17g.31338069T>ACA399014077NF1c.6731T>A (p.Val2244Asp)
c.1313T>A (p.Val438Asp)
n.2007T>A
c.905T>A (p.Val302Asp)
n.3394T>A
c.6779T>A (p.Val2260Asp)
c.6749T>A (p.Val2250Asp)
c.6686T>A (p.Val2229Asp)
c.5684T>A (p.Val1895Asp)
c.132T>A
c.6885T>A (n.6885T>A)
c.64+189T>A
n.163T>A
c.6740T>A (p.Val2247Asp)
c.6716T>A (p.Val2239Asp)
c.6776T>A (p.Val2259Asp)
 dbSNP
17g.31338069T>CCA399014076NF1c.6731T>C (p.Val2244Ala)
c.1313T>C (p.Val438Ala)
n.2007T>C
c.905T>C (p.Val302Ala)
n.3394T>C
c.6779T>C (p.Val2260Ala)
c.6749T>C (p.Val2250Ala)
c.6686T>C (p.Val2229Ala)
c.5684T>C (p.Val1895Ala)
c.132T>C
c.6885T>C (n.6885T>C)
c.64+189T>C
n.163T>C
c.6740T>C (p.Val2247Ala)
c.6716T>C (p.Val2239Ala)
c.6776T>C (p.Val2259Ala)
 ClinVar dbSNP gnomAD v4
17g.31338069T>GCA399014075NF1c.6731T>G (p.Val2244Gly)
c.1313T>G (p.Val438Gly)
n.2007T>G
c.905T>G (p.Val302Gly)
n.3394T>G
c.6779T>G (p.Val2260Gly)
c.6749T>G (p.Val2250Gly)
c.6686T>G (p.Val2229Gly)
c.5684T>G (p.Val1895Gly)
c.132T>G
c.6885T>G (n.6885T>G)
c.64+189T>G
n.163T>G
c.6740T>G (p.Val2247Gly)
c.6716T>G (p.Val2239Gly)
c.6776T>G (p.Val2259Gly)
 dbSNP
17g.31338069T=CA2255602845NF1c.6731T= (p.Val2244=)
c.1313T= (p.Val438=)
n.2007T=
c.905T= (p.Val302=)
n.3394T=
c.6779T= (p.Val2260=)
c.6749T= (p.Val2250=)
c.6686T= (p.Val2229=)
c.5684T= (p.Val1895=)
c.132T=
c.6885T= (n.6885T=)
c.64+189T=
n.163T=
c.6740T= (p.Val2247=)
c.6716T= (p.Val2239=)
c.6776T= (p.Val2259=)
17g.31338070delCA2739267433NF1c.6732del (p.Val2245SerfsTer14)
c.1314del (p.Val439SerfsTer14)
n.2008del
c.906del (p.Val303SerfsTer14)
n.3395del
c.6780del (p.Val2261SerfsTer14)
c.6750del (p.Val2251SerfsTer14)
c.6687del (p.Val2230SerfsTer14)
c.5685del (p.Val1896SerfsTer14)
c.133del
c.6886del (n.6886del)
c.64+190del
n.164del
c.6741del (p.Val2248SerfsTer14)
c.6717del (p.Val2240SerfsTer14)
c.6777del (p.Val2260SerfsTer14)
 ClinVar
17g.31338069_31338073delinsTTGTCCA2255602844NF1c.6731_6735delinsTTGTC (p.Val2244=)
c.1313_1317delinsTTGTC (p.Val438=)
n.2007_2011delinsTTGTC
c.905_909delinsTTGTC (p.Val302=)
n.3394_3398delinsTTGTC
c.6779_6783delinsTTGTC (p.Val2260=)
c.6749_6753delinsTTGTC (p.Val2250=)
c.6686_6690delinsTTGTC (p.Val2229=)
c.5684_5688delinsTTGTC (p.Val1895=)
c.132_136delinsTTGTC
c.6885_6889delinsTTGTC (n.6885_6889delinsTTGTC)
c.64+189_64+193delinsTTGTC
n.163_167delinsTTGTC
c.6740_6744delinsTTGTC (p.Val2247=)
c.6716_6720delinsTTGTC (p.Val2239=)
c.6776_6780delinsTTGTC (p.Val2259=)
17g.31338071_31338075delCA2697559607NF1c.6733_6737del (p.Val2245TrpfsTer4)
c.1315_1319del (p.Val439TrpfsTer4)
n.2009_2013del
c.907_911del (p.Val303TrpfsTer4)
n.3396_3400del
c.6781_6785del (p.Val2261TrpfsTer4)
c.6751_6755del (p.Val2251TrpfsTer4)
c.6688_6692del (p.Val2230TrpfsTer4)
c.5686_5690del (p.Val1896TrpfsTer4)
c.134_138del
c.6887_6891del (n.6887_6891del)
c.64+191_64+195del
n.165_169del
c.6742_6746del (p.Val2248TrpfsTer4)
c.6718_6722del (p.Val2240TrpfsTer4)
c.6778_6782del (p.Val2260TrpfsTer4)
 ClinVar
17g.31338070T>ACA499234275NF1c.6732T>A (p.Val2244=)
c.1314T>A (p.Val438=)
n.2008T>A
c.906T>A (p.Val302=)
n.3395T>A
c.6780T>A (p.Val2260=)
c.6750T>A (p.Val2250=)
c.6687T>A (p.Val2229=)
c.5685T>A (p.Val1895=)
c.133T>A
c.6886T>A (n.6886T>A)
c.64+190T>A
n.164T>A
c.6741T>A (p.Val2247=)
c.6717T>A (p.Val2239=)
c.6777T>A (p.Val2259=)
 ClinVar dbSNP
17g.31338070T>CCA8487423NF1c.6732T>C (p.Val2244=)
c.1314T>C (p.Val438=)
n.2008T>C
c.906T>C (p.Val302=)
n.3395T>C
c.6780T>C (p.Val2260=)
c.6750T>C (p.Val2250=)
c.6687T>C (p.Val2229=)
c.5685T>C (p.Val1895=)
c.133T>C
c.6886T>C (n.6886T>C)
c.64+190T>C
n.164T>C
c.6741T>C (p.Val2247=)
c.6717T>C (p.Val2239=)
c.6777T>C (p.Val2259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338070T>GCA499234276NF1c.6732T>G (p.Val2244=)
c.1314T>G (p.Val438=)
n.2008T>G
c.906T>G (p.Val302=)
n.3395T>G
c.6780T>G (p.Val2260=)
c.6750T>G (p.Val2250=)
c.6687T>G (p.Val2229=)
c.5685T>G (p.Val1895=)
c.133T>G
c.6886T>G (n.6886T>G)
c.64+190T>G
n.164T>G
c.6741T>G (p.Val2247=)
c.6717T>G (p.Val2239=)
c.6777T>G (p.Val2259=)
17g.31338070T=CA2255602846NF1c.6732T= (p.Val2244=)
c.1314T= (p.Val438=)
n.2008T=
c.906T= (p.Val302=)
n.3395T=
c.6780T= (p.Val2260=)
c.6750T= (p.Val2250=)
c.6687T= (p.Val2229=)
c.5685T= (p.Val1895=)
c.133T=
c.6886T= (n.6886T=)
c.64+190T=
n.164T=
c.6741T= (p.Val2247=)
c.6717T= (p.Val2239=)
c.6777T= (p.Val2259=)
17g.31338071_31338074dupCA2831039591NF1c.6733_6736dup (p.Phe2246CysfsTer6)
c.1315_1318dup (p.Phe440CysfsTer6)
n.2009_2012dup
c.907_910dup (p.Phe304CysfsTer6)
n.3396_3399dup
c.6781_6784dup (p.Phe2262CysfsTer6)
c.6751_6754dup (p.Phe2252CysfsTer6)
c.6688_6691dup (p.Phe2231CysfsTer6)
c.5686_5689dup (p.Phe1897CysfsTer6)
c.134_137dup
c.6887_6890dup (n.6887_6890dup)
c.64+191_64+194dup
n.165_168dup
c.6742_6745dup (p.Phe2249CysfsTer6)
c.6718_6721dup (p.Phe2241CysfsTer6)
c.6778_6781dup (p.Phe2261CysfsTer6)
17g.31338071_31338074delCA658824586NF1c.6733_6736del (p.Val2245LeufsTer13)
c.1315_1318del (p.Val439LeufsTer13)
n.2009_2012del
c.907_910del (p.Val303LeufsTer13)
n.3396_3399del
c.6781_6784del (p.Val2261LeufsTer13)
c.6751_6754del (p.Val2251LeufsTer13)
c.6688_6691del (p.Val2230LeufsTer13)
c.5686_5689del (p.Val1896LeufsTer13)
c.134_137del
c.6887_6890del (n.6887_6890del)
c.64+191_64+194del
n.165_168del
c.6742_6745del (p.Val2248LeufsTer13)
c.6718_6721del (p.Val2240LeufsTer13)
c.6778_6781del (p.Val2260LeufsTer13)
 ClinVar dbSNP
17g.31338071delCA2695225166NF1c.6733del (p.Val2245SerfsTer14)
c.1315del (p.Val439SerfsTer14)
n.2009del
c.907del (p.Val303SerfsTer14)
n.3396del
c.6781del (p.Val2261SerfsTer14)
c.6751del (p.Val2251SerfsTer14)
c.6688del (p.Val2230SerfsTer14)
c.5686del (p.Val1896SerfsTer14)
c.134del
c.6887del (n.6887del)
c.64+191del
n.165del
c.6742del (p.Val2248SerfsTer14)
c.6718del (p.Val2240SerfsTer14)
c.6778del (p.Val2260SerfsTer14)
17g.31338071G>ACA399014080NF1c.6733G>A (p.Val2245Ile)
c.1315G>A (p.Val439Ile)
n.2009G>A
c.907G>A (p.Val303Ile)
n.3396G>A
c.6781G>A (p.Val2261Ile)
c.6751G>A (p.Val2251Ile)
c.6688G>A (p.Val2230Ile)
c.5686G>A (p.Val1896Ile)
c.134G>A
c.6887G>A (n.6887G>A)
c.64+191G>A
n.165G>A
c.6742G>A (p.Val2248Ile)
c.6718G>A (p.Val2240Ile)
c.6778G>A (p.Val2260Ile)
17g.31338071G>CCA399014078NF1c.6733G>C (p.Val2245Leu)
c.1315G>C (p.Val439Leu)
n.2009G>C
c.907G>C (p.Val303Leu)
n.3396G>C
c.6781G>C (p.Val2261Leu)
c.6751G>C (p.Val2251Leu)
c.6688G>C (p.Val2230Leu)
c.5686G>C (p.Val1896Leu)
c.134G>C
c.6887G>C (n.6887G>C)
c.64+191G>C
n.165G>C
c.6742G>C (p.Val2248Leu)
c.6718G>C (p.Val2240Leu)
c.6778G>C (p.Val2260Leu)
17g.31338071G>TCA399014079NF1c.6733G>T (p.Val2245Phe)
c.1315G>T (p.Val439Phe)
n.2009G>T
c.907G>T (p.Val303Phe)
n.3396G>T
c.6781G>T (p.Val2261Phe)
c.6751G>T (p.Val2251Phe)
c.6688G>T (p.Val2230Phe)
c.5686G>T (p.Val1896Phe)
c.134G>T
c.6887G>T (n.6887G>T)
c.64+191G>T
n.165G>T
c.6742G>T (p.Val2248Phe)
c.6718G>T (p.Val2240Phe)
c.6778G>T (p.Val2260Phe)
 ClinVar COSMIC COSMIC COSMIC
17g.31338072T>ACA399014081NF1c.6734T>A (p.Val2245Asp)
c.1316T>A (p.Val439Asp)
n.2010T>A
c.908T>A (p.Val303Asp)
n.3397T>A
c.6782T>A (p.Val2261Asp)
c.6752T>A (p.Val2251Asp)
c.6689T>A (p.Val2230Asp)
c.5687T>A (p.Val1896Asp)
c.135T>A
c.6888T>A (n.6888T>A)
c.64+192T>A
n.166T>A
c.6743T>A (p.Val2248Asp)
c.6719T>A (p.Val2240Asp)
c.6779T>A (p.Val2260Asp)
 dbSNP
17g.31338072T>CCA399014082NF1c.6734T>C (p.Val2245Ala)
c.1316T>C (p.Val439Ala)
n.2010T>C
c.908T>C (p.Val303Ala)
n.3397T>C
c.6782T>C (p.Val2261Ala)
c.6752T>C (p.Val2251Ala)
c.6689T>C (p.Val2230Ala)
c.5687T>C (p.Val1896Ala)
c.135T>C
c.6888T>C (n.6888T>C)
c.64+192T>C
n.166T>C
c.6743T>C (p.Val2248Ala)
c.6719T>C (p.Val2240Ala)
c.6779T>C (p.Val2260Ala)
 dbSNP
17g.31338072T>GCA399014083NF1c.6734T>G (p.Val2245Gly)
c.1316T>G (p.Val439Gly)
n.2010T>G
c.908T>G (p.Val303Gly)
n.3397T>G
c.6782T>G (p.Val2261Gly)
c.6752T>G (p.Val2251Gly)
c.6689T>G (p.Val2230Gly)
c.5687T>G (p.Val1896Gly)
c.135T>G
c.6888T>G (n.6888T>G)
c.64+192T>G
n.166T>G
c.6743T>G (p.Val2248Gly)
c.6719T>G (p.Val2240Gly)
c.6779T>G (p.Val2260Gly)
17g.31338073C>ACA499234277NF1c.6735C>A (p.Val2245=)
c.1317C>A (p.Val439=)
n.2011C>A
c.909C>A (p.Val303=)
n.3398C>A
c.6783C>A (p.Val2261=)
c.6753C>A (p.Val2251=)
c.6690C>A (p.Val2230=)
c.5688C>A (p.Val1896=)
c.136C>A
c.6889C>A (n.6889C>A)
c.64+193C>A
n.167C>A
c.6744C>A (p.Val2248=)
c.6720C>A (p.Val2240=)
c.6780C>A (p.Val2260=)
 ClinVar dbSNP
17g.31338073C=CA2255602847NF1c.6735C= (p.Val2245=)
c.1317C= (p.Val439=)
n.2011C=
c.909C= (p.Val303=)
n.3398C=
c.6783C= (p.Val2261=)
c.6753C= (p.Val2251=)
c.6690C= (p.Val2230=)
c.5688C= (p.Val1896=)
c.136C=
c.6889C= (n.6889C=)
c.64+193C=
n.167C=
c.6744C= (p.Val2248=)
c.6720C= (p.Val2240=)
c.6780C= (p.Val2260=)
17g.31338073C>GCA499234278NF1c.6735C>G (p.Val2245=)
c.1317C>G (p.Val439=)
n.2011C>G
c.909C>G (p.Val303=)
n.3398C>G
c.6783C>G (p.Val2261=)
c.6753C>G (p.Val2251=)
c.6690C>G (p.Val2230=)
c.5688C>G (p.Val1896=)
c.136C>G
c.6889C>G (n.6889C>G)
c.64+193C>G
n.167C>G
c.6744C>G (p.Val2248=)
c.6720C>G (p.Val2240=)
c.6780C>G (p.Val2260=)
 dbSNP
17g.31338073C>TCA499234279NF1c.6735C>T (p.Val2245=)
c.1317C>T (p.Val439=)
n.2011C>T
c.909C>T (p.Val303=)
n.3398C>T
c.6783C>T (p.Val2261=)
c.6753C>T (p.Val2251=)
c.6690C>T (p.Val2230=)
c.5688C>T (p.Val1896=)
c.136C>T
c.6889C>T (n.6889C>T)
c.64+193C>T
n.167C>T
c.6744C>T (p.Val2248=)
c.6720C>T (p.Val2240=)
c.6780C>T (p.Val2260=)
 dbSNP
17g.31338074T>ACA399014084NF1c.6736T>A (p.Phe2246Ile)
c.1318T>A (p.Phe440Ile)
n.2012T>A
c.910T>A (p.Phe304Ile)
n.3399T>A
c.6784T>A (p.Phe2262Ile)
c.6754T>A (p.Phe2252Ile)
c.6691T>A (p.Phe2231Ile)
c.5689T>A (p.Phe1897Ile)
c.137T>A
c.6890T>A (n.6890T>A)
c.64+194T>A
n.168T>A
c.6745T>A (p.Phe2249Ile)
c.6721T>A (p.Phe2241Ile)
c.6781T>A (p.Phe2261Ile)
 dbSNP
17g.31338074T>CCA399014085NF1c.6736T>C (p.Phe2246Leu)
c.1318T>C (p.Phe440Leu)
n.2012T>C
c.910T>C (p.Phe304Leu)
n.3399T>C
c.6784T>C (p.Phe2262Leu)
c.6754T>C (p.Phe2252Leu)
c.6691T>C (p.Phe2231Leu)
c.5689T>C (p.Phe1897Leu)
c.137T>C
c.6890T>C (n.6890T>C)
c.64+194T>C
n.168T>C
c.6745T>C (p.Phe2249Leu)
c.6721T>C (p.Phe2241Leu)
c.6781T>C (p.Phe2261Leu)
 dbSNP
17g.31338074T>GCA399014086NF1c.6736T>G (p.Phe2246Val)
c.1318T>G (p.Phe440Val)
n.2012T>G
c.910T>G (p.Phe304Val)
n.3399T>G
c.6784T>G (p.Phe2262Val)
c.6754T>G (p.Phe2252Val)
c.6691T>G (p.Phe2231Val)
c.5689T>G (p.Phe1897Val)
c.137T>G
c.6890T>G (n.6890T>G)
c.64+194T>G
n.168T>G
c.6745T>G (p.Phe2249Val)
c.6721T>G (p.Phe2241Val)
c.6781T>G (p.Phe2261Val)
17g.31338076delCA2580093138NF1c.6738del (p.Phe2246LeufsTer13)
c.1320del (p.Phe440LeufsTer13)
n.2014del
c.912del (p.Phe304LeufsTer13)
n.3401del
c.6786del (p.Phe2262LeufsTer13)
c.6756del (p.Phe2252LeufsTer13)
c.6693del (p.Phe2231LeufsTer13)
c.5691del (p.Phe1897LeufsTer13)
c.139del
c.6892del (n.6892del)
c.64+196del
n.170del
c.6747del (p.Phe2249LeufsTer13)
c.6723del (p.Phe2241LeufsTer13)
c.6783del (p.Phe2261LeufsTer13)
 ClinVar
17g.31338075_31338076delCA2695225167NF1c.6737_6738del (p.Phe2246TrpfsTer4)
c.1319_1320del (p.Phe440TrpfsTer4)
n.2013_2014del
c.911_912del (p.Phe304TrpfsTer4)
n.3400_3401del
c.6785_6786del (p.Phe2262TrpfsTer4)
c.6755_6756del (p.Phe2252TrpfsTer4)
c.6692_6693del (p.Phe2231TrpfsTer4)
c.5690_5691del (p.Phe1897TrpfsTer4)
c.138_139del
c.6891_6892del (n.6891_6892del)
c.64+195_64+196del
n.169_170del
c.6746_6747del (p.Phe2249TrpfsTer4)
c.6722_6723del (p.Phe2241TrpfsTer4)
c.6782_6783del (p.Phe2261TrpfsTer4)
17g.31338075T>ACA399014087NF1c.6737T>A (p.Phe2246Tyr)
c.1319T>A (p.Phe440Tyr)
n.2013T>A
c.911T>A (p.Phe304Tyr)
n.3400T>A
c.6785T>A (p.Phe2262Tyr)
c.6755T>A (p.Phe2252Tyr)
c.6692T>A (p.Phe2231Tyr)
c.5690T>A (p.Phe1897Tyr)
c.138T>A
c.6891T>A (n.6891T>A)
c.64+195T>A
n.169T>A
c.6746T>A (p.Phe2249Tyr)
c.6722T>A (p.Phe2241Tyr)
c.6782T>A (p.Phe2261Tyr)
 dbSNP
17g.31338075T>CCA399014088NF1c.6737T>C (p.Phe2246Ser)
c.1319T>C (p.Phe440Ser)
n.2013T>C
c.911T>C (p.Phe304Ser)
n.3400T>C
c.6785T>C (p.Phe2262Ser)
c.6755T>C (p.Phe2252Ser)
c.6692T>C (p.Phe2231Ser)
c.5690T>C (p.Phe1897Ser)
c.138T>C
c.6891T>C (n.6891T>C)
c.64+195T>C
n.169T>C
c.6746T>C (p.Phe2249Ser)
c.6722T>C (p.Phe2241Ser)
c.6782T>C (p.Phe2261Ser)
17g.31338075T>GCA399014089NF1c.6737T>G (p.Phe2246Cys)
c.1319T>G (p.Phe440Cys)
n.2013T>G
c.911T>G (p.Phe304Cys)
n.3400T>G
c.6785T>G (p.Phe2262Cys)
c.6755T>G (p.Phe2252Cys)
c.6692T>G (p.Phe2231Cys)
c.5690T>G (p.Phe1897Cys)
c.138T>G
c.6891T>G (n.6891T>G)
c.64+195T>G
n.169T>G
c.6746T>G (p.Phe2249Cys)
c.6722T>G (p.Phe2241Cys)
c.6782T>G (p.Phe2261Cys)
17g.31338076T>ACA399014090NF1c.6738T>A (p.Phe2246Leu)
c.1320T>A (p.Phe440Leu)
n.2014T>A
c.912T>A (p.Phe304Leu)
n.3401T>A
c.6786T>A (p.Phe2262Leu)
c.6756T>A (p.Phe2252Leu)
c.6693T>A (p.Phe2231Leu)
c.5691T>A (p.Phe1897Leu)
c.139T>A
c.6892T>A (n.6892T>A)
c.64+196T>A
n.170T>A
c.6747T>A (p.Phe2249Leu)
c.6723T>A (p.Phe2241Leu)
c.6783T>A (p.Phe2261Leu)
17g.31338076T>CCA499234280NF1c.6738T>C (p.Phe2246=)
c.1320T>C (p.Phe440=)
n.2014T>C
c.912T>C (p.Phe304=)
n.3401T>C
c.6786T>C (p.Phe2262=)
c.6756T>C (p.Phe2252=)
c.6693T>C (p.Phe2231=)
c.5691T>C (p.Phe1897=)
c.139T>C
c.6892T>C (n.6892T>C)
c.64+196T>C
n.170T>C
c.6747T>C (p.Phe2249=)
c.6723T>C (p.Phe2241=)
c.6783T>C (p.Phe2261=)
 ClinVar dbSNP
17g.31338076T>GCA399014091NF1c.6738T>G (p.Phe2246Leu)
c.1320T>G (p.Phe440Leu)
n.2014T>G
c.912T>G (p.Phe304Leu)
n.3401T>G
c.6786T>G (p.Phe2262Leu)
c.6756T>G (p.Phe2252Leu)
c.6693T>G (p.Phe2231Leu)
c.5691T>G (p.Phe1897Leu)
c.139T>G
c.6892T>G (n.6892T>G)
c.64+196T>G
n.170T>G
c.6747T>G (p.Phe2249Leu)
c.6723T>G (p.Phe2241Leu)
c.6783T>G (p.Phe2261Leu)
 ClinVar dbSNP
17g.31338076T=CA2255602848NF1c.6738T= (p.Phe2246=)
c.1320T= (p.Phe440=)
n.2014T=
c.912T= (p.Phe304=)
n.3401T=
c.6786T= (p.Phe2262=)
c.6756T= (p.Phe2252=)
c.6693T= (p.Phe2231=)
c.5691T= (p.Phe1897=)
c.139T=
c.6892T= (n.6892T=)
c.64+196T=
n.170T=
c.6747T= (p.Phe2249=)
c.6723T= (p.Phe2241=)
c.6783T= (p.Phe2261=)
17g.31338077G>ACA399014094NF1c.6739G>A (p.Gly2247Arg)
c.1321G>A (p.Gly441Arg)
n.2015G>A
c.913G>A (p.Gly305Arg)
n.3402G>A
c.6787G>A (p.Gly2263Arg)
c.6757G>A (p.Gly2253Arg)
c.6694G>A (p.Gly2232Arg)
c.5692G>A (p.Gly1898Arg)
c.140G>A
c.6893G>A (n.6893G>A)
c.64+197G>A
n.171G>A
c.6748G>A (p.Gly2250Arg)
c.6724G>A (p.Gly2242Arg)
c.6784G>A (p.Gly2262Arg)
 dbSNP
17g.31338077G>CCA399014092NF1c.6739G>C (p.Gly2247Arg)
c.1321G>C (p.Gly441Arg)
n.2015G>C
c.913G>C (p.Gly305Arg)
n.3402G>C
c.6787G>C (p.Gly2263Arg)
c.6757G>C (p.Gly2253Arg)
c.6694G>C (p.Gly2232Arg)
c.5692G>C (p.Gly1898Arg)
c.140G>C
c.6893G>C (n.6893G>C)
c.64+197G>C
n.171G>C
c.6748G>C (p.Gly2250Arg)
c.6724G>C (p.Gly2242Arg)
c.6784G>C (p.Gly2262Arg)
 ClinVar dbSNP
17g.31338077G>TCA399014093NF1c.6739G>T (p.Gly2247Trp)
c.1321G>T (p.Gly441Trp)
n.2015G>T
c.913G>T (p.Gly305Trp)
n.3402G>T
c.6787G>T (p.Gly2263Trp)
c.6757G>T (p.Gly2253Trp)
c.6694G>T (p.Gly2232Trp)
c.5692G>T (p.Gly1898Trp)
c.140G>T
c.6893G>T (n.6893G>T)
c.64+197G>T
n.171G>T
c.6748G>T (p.Gly2250Trp)
c.6724G>T (p.Gly2242Trp)
c.6784G>T (p.Gly2262Trp)
 dbSNP
17g.31338078G>ACA10580387NF1c.6740G>A (p.Gly2247Glu)
c.1322G>A (p.Gly441Glu)
n.2016G>A
c.914G>A (p.Gly305Glu)
n.3403G>A
c.6788G>A (p.Gly2263Glu)
c.6758G>A (p.Gly2253Glu)
c.6695G>A (p.Gly2232Glu)
c.5693G>A (p.Gly1898Glu)
c.141G>A
c.6894G>A (n.6894G>A)
c.64+198G>A
n.172G>A
c.6749G>A (p.Gly2250Glu)
c.6725G>A (p.Gly2242Glu)
c.6785G>A (p.Gly2262Glu)
 ClinVar dbSNP COSMIC COSMIC
17g.31338078G>CCA399014095NF1c.6740G>C (p.Gly2247Ala)
c.1322G>C (p.Gly441Ala)
n.2016G>C
c.914G>C (p.Gly305Ala)
n.3403G>C
c.6788G>C (p.Gly2263Ala)
c.6758G>C (p.Gly2253Ala)
c.6695G>C (p.Gly2232Ala)
c.5693G>C (p.Gly1898Ala)
c.141G>C
c.6894G>C (n.6894G>C)
c.64+198G>C
n.172G>C
c.6749G>C (p.Gly2250Ala)
c.6725G>C (p.Gly2242Ala)
c.6785G>C (p.Gly2262Ala)
 dbSNP
17g.31338078G=CA2255602849NF1c.6740G= (p.Gly2247=)
c.1322G= (p.Gly441=)
n.2016G=
c.914G= (p.Gly305=)
n.3403G=
c.6788G= (p.Gly2263=)
c.6758G= (p.Gly2253=)
c.6695G= (p.Gly2232=)
c.5693G= (p.Gly1898=)
c.141G=
c.6894G= (n.6894G=)
c.64+198G=
n.172G=
c.6749G= (p.Gly2250=)
c.6725G= (p.Gly2242=)
c.6785G= (p.Gly2262=)
17g.31338078G>TCA399014096NF1c.6740G>T (p.Gly2247Val)
c.1322G>T (p.Gly441Val)
n.2016G>T
c.914G>T (p.Gly305Val)
n.3403G>T
c.6788G>T (p.Gly2263Val)
c.6758G>T (p.Gly2253Val)
c.6695G>T (p.Gly2232Val)
c.5693G>T (p.Gly1898Val)
c.141G>T
c.6894G>T (n.6894G>T)
c.64+198G>T
n.172G>T
c.6749G>T (p.Gly2250Val)
c.6725G>T (p.Gly2242Val)
c.6785G>T (p.Gly2262Val)
 dbSNP
17g.31338079G>ACA499234281NF1c.6741G>A (p.Gly2247=)
c.1323G>A (p.Gly441=)
n.2017G>A
c.915G>A (p.Gly305=)
n.3404G>A
c.6789G>A (p.Gly2263=)
c.6759G>A (p.Gly2253=)
c.6696G>A (p.Gly2232=)
c.5694G>A (p.Gly1898=)
c.142G>A
c.6895G>A (n.6895G>A)
c.64+199G>A
n.173G>A
c.6750G>A (p.Gly2250=)
c.6726G>A (p.Gly2242=)
c.6786G>A (p.Gly2262=)
 dbSNP gnomAD v4
17g.31338079G>CCA499234282NF1c.6741G>C (p.Gly2247=)
c.1323G>C (p.Gly441=)
n.2017G>C
c.915G>C (p.Gly305=)
n.3404G>C
c.6789G>C (p.Gly2263=)
c.6759G>C (p.Gly2253=)
c.6696G>C (p.Gly2232=)
c.5694G>C (p.Gly1898=)
c.142G>C
c.6895G>C (n.6895G>C)
c.64+199G>C
n.173G>C
c.6750G>C (p.Gly2250=)
c.6726G>C (p.Gly2242=)
c.6786G>C (p.Gly2262=)
 dbSNP
17g.31338079G>TCA499234283NF1c.6741G>T (p.Gly2247=)
c.1323G>T (p.Gly441=)
n.2017G>T
c.915G>T (p.Gly305=)
n.3404G>T
c.6789G>T (p.Gly2263=)
c.6759G>T (p.Gly2253=)
c.6696G>T (p.Gly2232=)
c.5694G>T (p.Gly1898=)
c.142G>T
c.6895G>T (n.6895G>T)
c.64+199G>T
n.173G>T
c.6750G>T (p.Gly2250=)
c.6726G>T (p.Gly2242=)
c.6786G>T (p.Gly2262=)
17g.31338083_31338098delCA658760984NF1c.6745_6760del (p.Ile2249LeufsTer5)
c.1327_1342del (p.Ile443LeufsTer5)
n.2021_2036del
c.919_934del (p.Ile307LeufsTer5)
n.3408_3423del
c.6793_6808del (p.Ile2265LeufsTer5)
c.6763_6778del (p.Ile2255LeufsTer5)
c.6700_6715del (p.Ile2234LeufsTer5)
c.5698_5713del (p.Ile1900LeufsTer5)
c.146_161del
c.6899_6914del (n.6899_6914del)
c.64+203_64+218del
n.177_192del
c.6754_6769del (p.Ile2252LeufsTer5)
c.6730_6745del (p.Ile2244LeufsTer5)
c.6790_6805del (p.Ile2264LeufsTer5)
17g.31338080T>ACA399014097NF1c.6742T>A (p.Cys2248Ser)
c.1324T>A (p.Cys442Ser)
n.2018T>A
c.916T>A (p.Cys306Ser)
n.3405T>A
c.6790T>A (p.Cys2264Ser)
c.6760T>A (p.Cys2254Ser)
c.6697T>A (p.Cys2233Ser)
c.5695T>A (p.Cys1899Ser)
c.143T>A
c.6896T>A (n.6896T>A)
c.64+200T>A
n.174T>A
c.6751T>A (p.Cys2251Ser)
c.6727T>A (p.Cys2243Ser)
c.6787T>A (p.Cys2263Ser)
 dbSNP
17g.31338080T>CCA399014098NF1c.6742T>C (p.Cys2248Arg)
c.1324T>C (p.Cys442Arg)
n.2018T>C
c.916T>C (p.Cys306Arg)
n.3405T>C
c.6790T>C (p.Cys2264Arg)
c.6760T>C (p.Cys2254Arg)
c.6697T>C (p.Cys2233Arg)
c.5695T>C (p.Cys1899Arg)
c.143T>C
c.6896T>C (n.6896T>C)
c.64+200T>C
n.174T>C
c.6751T>C (p.Cys2251Arg)
c.6727T>C (p.Cys2243Arg)
c.6787T>C (p.Cys2263Arg)
17g.31338080T>GCA399014099NF1c.6742T>G (p.Cys2248Gly)
c.1324T>G (p.Cys442Gly)
n.2018T>G
c.916T>G (p.Cys306Gly)
n.3405T>G
c.6790T>G (p.Cys2264Gly)
c.6760T>G (p.Cys2254Gly)
c.6697T>G (p.Cys2233Gly)
c.5695T>G (p.Cys1899Gly)
c.143T>G
c.6896T>G (n.6896T>G)
c.64+200T>G
n.174T>G
c.6751T>G (p.Cys2251Gly)
c.6727T>G (p.Cys2243Gly)
c.6787T>G (p.Cys2263Gly)
17g.31338081G>ACA399014100NF1c.6743G>A (p.Cys2248Tyr)
c.1325G>A (p.Cys442Tyr)
n.2019G>A
c.917G>A (p.Cys306Tyr)
n.3406G>A
c.6791G>A (p.Cys2264Tyr)
c.6761G>A (p.Cys2254Tyr)
c.6698G>A (p.Cys2233Tyr)
c.5696G>A (p.Cys1899Tyr)
c.144G>A
c.6897G>A (n.6897G>A)
c.64+201G>A
n.175G>A
c.6752G>A (p.Cys2251Tyr)
c.6728G>A (p.Cys2243Tyr)
c.6788G>A (p.Cys2263Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31338081G>CCA399014101NF1c.6743G>C (p.Cys2248Ser)
c.1325G>C (p.Cys442Ser)
n.2019G>C
c.917G>C (p.Cys306Ser)
n.3406G>C
c.6791G>C (p.Cys2264Ser)
c.6761G>C (p.Cys2254Ser)
c.6698G>C (p.Cys2233Ser)
c.5696G>C (p.Cys1899Ser)
c.144G>C
c.6897G>C (n.6897G>C)
c.64+201G>C
n.175G>C
c.6752G>C (p.Cys2251Ser)
c.6728G>C (p.Cys2243Ser)
c.6788G>C (p.Cys2263Ser)
 dbSNP
17g.31338081G=CA2255602850NF1c.6743G= (p.Cys2248=)
c.1325G= (p.Cys442=)
n.2019G=
c.917G= (p.Cys306=)
n.3406G=
c.6791G= (p.Cys2264=)
c.6761G= (p.Cys2254=)
c.6698G= (p.Cys2233=)
c.5696G= (p.Cys1899=)
c.144G=
c.6897G= (n.6897G=)
c.64+201G=
n.175G=
c.6752G= (p.Cys2251=)
c.6728G= (p.Cys2243=)
c.6788G= (p.Cys2263=)
17g.31338081G>TCA399014102NF1c.6743G>T (p.Cys2248Phe)
c.1325G>T (p.Cys442Phe)
n.2019G>T
c.917G>T (p.Cys306Phe)
n.3406G>T
c.6791G>T (p.Cys2264Phe)
c.6761G>T (p.Cys2254Phe)
c.6698G>T (p.Cys2233Phe)
c.5696G>T (p.Cys1899Phe)
c.144G>T
c.6897G>T (n.6897G>T)
c.64+201G>T
n.175G>T
c.6752G>T (p.Cys2251Phe)
c.6728G>T (p.Cys2243Phe)
c.6788G>T (p.Cys2263Phe)
 dbSNP
17g.31338082T>ACA399014103NF1c.6744T>A (p.Cys2248Ter)
c.1326T>A (p.Cys442Ter)
n.2020T>A
c.918T>A (p.Cys306Ter)
n.3407T>A
c.6792T>A (p.Cys2264Ter)
c.6762T>A (p.Cys2254Ter)
c.6699T>A (p.Cys2233Ter)
c.5697T>A (p.Cys1899Ter)
c.145T>A
c.6898T>A (n.6898T>A)
c.64+202T>A
n.176T>A
c.6753T>A (p.Cys2251Ter)
c.6729T>A (p.Cys2243Ter)
c.6789T>A (p.Cys2263Ter)
 dbSNP
17g.31338082T>CCA499234284NF1c.6744T>C (p.Cys2248=)
c.1326T>C (p.Cys442=)
n.2020T>C
c.918T>C (p.Cys306=)
n.3407T>C
c.6792T>C (p.Cys2264=)
c.6762T>C (p.Cys2254=)
c.6699T>C (p.Cys2233=)
c.5697T>C (p.Cys1899=)
c.145T>C
c.6898T>C (n.6898T>C)
c.64+202T>C
n.176T>C
c.6753T>C (p.Cys2251=)
c.6729T>C (p.Cys2243=)
c.6789T>C (p.Cys2263=)
 dbSNP
17g.31338082T>GCA399014104NF1c.6744T>G (p.Cys2248Trp)
c.1326T>G (p.Cys442Trp)
n.2020T>G
c.918T>G (p.Cys306Trp)
n.3407T>G
c.6792T>G (p.Cys2264Trp)
c.6762T>G (p.Cys2254Trp)
c.6699T>G (p.Cys2233Trp)
c.5697T>G (p.Cys1899Trp)
c.145T>G
c.6898T>G (n.6898T>G)
c.64+202T>G
n.176T>G
c.6753T>G (p.Cys2251Trp)
c.6729T>G (p.Cys2243Trp)
c.6789T>G (p.Cys2263Trp)
 ClinVar
17g.31338083A>CCA399014107NF1c.6745A>C (p.Ile2249Leu)
c.1327A>C (p.Ile443Leu)
n.2021A>C
c.919A>C (p.Ile307Leu)
n.3408A>C
c.6793A>C (p.Ile2265Leu)
c.6763A>C (p.Ile2255Leu)
c.6700A>C (p.Ile2234Leu)
c.5698A>C (p.Ile1900Leu)
c.146A>C
c.6899A>C (n.6899A>C)
c.64+203A>C
n.177A>C
c.6754A>C (p.Ile2252Leu)
c.6730A>C (p.Ile2244Leu)
c.6790A>C (p.Ile2264Leu)
 ClinVar
17g.31338083A>GCA399014106NF1c.6745A>G (p.Ile2249Val)
c.1327A>G (p.Ile443Val)
n.2021A>G
c.919A>G (p.Ile307Val)
n.3408A>G
c.6793A>G (p.Ile2265Val)
c.6763A>G (p.Ile2255Val)
c.6700A>G (p.Ile2234Val)
c.5698A>G (p.Ile1900Val)
c.146A>G
c.6899A>G (n.6899A>G)
c.64+203A>G
n.177A>G
c.6754A>G (p.Ile2252Val)
c.6730A>G (p.Ile2244Val)
c.6790A>G (p.Ile2264Val)
17g.31338083A>TCA399014105NF1c.6745A>T (p.Ile2249Phe)
c.1327A>T (p.Ile443Phe)
n.2021A>T
c.919A>T (p.Ile307Phe)
n.3408A>T
c.6793A>T (p.Ile2265Phe)
c.6763A>T (p.Ile2255Phe)
c.6700A>T (p.Ile2234Phe)
c.5698A>T (p.Ile1900Phe)
c.146A>T
c.6899A>T (n.6899A>T)
c.64+203A>T
n.177A>T
c.6754A>T (p.Ile2252Phe)
c.6730A>T (p.Ile2244Phe)
c.6790A>T (p.Ile2264Phe)
 ClinVar
17g.31338084T>ACA399014108NF1c.6746T>A (p.Ile2249Asn)
c.1328T>A (p.Ile443Asn)
n.2022T>A
c.920T>A (p.Ile307Asn)
n.3409T>A
c.6794T>A (p.Ile2265Asn)
c.6764T>A (p.Ile2255Asn)
c.6701T>A (p.Ile2234Asn)
c.5699T>A (p.Ile1900Asn)
c.147T>A
c.6900T>A (n.6900T>A)
c.64+204T>A
n.178T>A
c.6755T>A (p.Ile2252Asn)
c.6731T>A (p.Ile2244Asn)
c.6791T>A (p.Ile2264Asn)
 dbSNP
17g.31338084T>CCA399014109NF1c.6746T>C (p.Ile2249Thr)
c.1328T>C (p.Ile443Thr)
n.2022T>C
c.920T>C (p.Ile307Thr)
n.3409T>C
c.6794T>C (p.Ile2265Thr)
c.6764T>C (p.Ile2255Thr)
c.6701T>C (p.Ile2234Thr)
c.5699T>C (p.Ile1900Thr)
c.147T>C
c.6900T>C (n.6900T>C)
c.64+204T>C
n.178T>C
c.6755T>C (p.Ile2252Thr)
c.6731T>C (p.Ile2244Thr)
c.6791T>C (p.Ile2264Thr)
17g.31338084T>GCA399014110NF1c.6746T>G (p.Ile2249Ser)
c.1328T>G (p.Ile443Ser)
n.2022T>G
c.920T>G (p.Ile307Ser)
n.3409T>G
c.6794T>G (p.Ile2265Ser)
c.6764T>G (p.Ile2255Ser)
c.6701T>G (p.Ile2234Ser)
c.5699T>G (p.Ile1900Ser)
c.147T>G
c.6900T>G (n.6900T>G)
c.64+204T>G
n.178T>G
c.6755T>G (p.Ile2252Ser)
c.6731T>G (p.Ile2244Ser)
c.6791T>G (p.Ile2264Ser)
 ClinVar dbSNP
17g.31338084T=CA2255602851NF1c.6746T= (p.Ile2249=)
c.1328T= (p.Ile443=)
n.2022T=
c.920T= (p.Ile307=)
n.3409T=
c.6794T= (p.Ile2265=)
c.6764T= (p.Ile2255=)
c.6701T= (p.Ile2234=)
c.5699T= (p.Ile1900=)
c.147T=
c.6900T= (n.6900T=)
c.64+204T=
n.178T=
c.6755T= (p.Ile2252=)
c.6731T= (p.Ile2244=)
c.6791T= (p.Ile2264=)
17g.31338085dupCA2739267434NF1c.6747dup (p.Ser2250Ter)
c.1329dup (p.Ser444Ter)
n.2023dup
c.921dup (p.Ser308Ter)
n.3410dup
c.6795dup (p.Ser2266Ter)
c.6765dup (p.Ser2256Ter)
c.6702dup (p.Ser2235Ter)
c.5700dup (p.Ser1901Ter)
c.148dup
c.6901dup (n.6901dup)
c.64+205dup
n.179dup
c.6756dup (p.Ser2253Ter)
c.6732dup (p.Ser2245Ter)
c.6792dup (p.Ser2265Ter)
 ClinVar
17g.31338085T>ACA499234285NF1c.6747T>A (p.Ile2249=)
c.1329T>A (p.Ile443=)
n.2023T>A
c.921T>A (p.Ile307=)
n.3410T>A
c.6795T>A (p.Ile2265=)
c.6765T>A (p.Ile2255=)
c.6702T>A (p.Ile2234=)
c.5700T>A (p.Ile1900=)
c.148T>A
c.6901T>A (n.6901T>A)
c.64+205T>A
n.179T>A
c.6756T>A (p.Ile2252=)
c.6732T>A (p.Ile2244=)
c.6792T>A (p.Ile2264=)
 dbSNP
17g.31338085T>CCA499234286NF1c.6747T>C (p.Ile2249=)
c.1329T>C (p.Ile443=)
n.2023T>C
c.921T>C (p.Ile307=)
n.3410T>C
c.6795T>C (p.Ile2265=)
c.6765T>C (p.Ile2255=)
c.6702T>C (p.Ile2234=)
c.5700T>C (p.Ile1900=)
c.148T>C
c.6901T>C (n.6901T>C)
c.64+205T>C
n.179T>C
c.6756T>C (p.Ile2252=)
c.6732T>C (p.Ile2244=)
c.6792T>C (p.Ile2264=)
17g.31338085T>GCA399014111NF1c.6747T>G (p.Ile2249Met)
c.1329T>G (p.Ile443Met)
n.2023T>G
c.921T>G (p.Ile307Met)
n.3410T>G
c.6795T>G (p.Ile2265Met)
c.6765T>G (p.Ile2255Met)
c.6702T>G (p.Ile2234Met)
c.5700T>G (p.Ile1900Met)
c.148T>G
c.6901T>G (n.6901T>G)
c.64+205T>G
n.179T>G
c.6756T>G (p.Ile2252Met)
c.6732T>G (p.Ile2244Met)
c.6792T>G (p.Ile2264Met)
17g.31338085_31338086delCA2697559610NF1c.6747_6748del (p.Ile2249MetfsTer17)
c.1329_1330del (p.Ile443MetfsTer17)
n.2023_2024del
c.921_922del (p.Ile307MetfsTer17)
n.3410_3411del
c.6795_6796del (p.Ile2265MetfsTer17)
c.6765_6766del (p.Ile2255MetfsTer17)
c.6702_6703del (p.Ile2234MetfsTer17)
c.5700_5701del (p.Ile1900MetfsTer17)
c.148_149del
c.6901_6902del (n.6901_6902del)
c.64+205_64+206del
n.179_180del
c.6756_6757del (p.Ile2252MetfsTer17)
c.6732_6733del (p.Ile2244MetfsTer17)
c.6792_6793del (p.Ile2264MetfsTer17)
 ClinVar
17g.31338086A=CA2255602852NF1c.6748A= (p.Ser2250=)
c.1330A= (p.Ser444=)
n.2024A=
c.922A= (p.Ser308=)
n.3411A=
c.6796A= (p.Ser2266=)
c.6766A= (p.Ser2256=)
c.6703A= (p.Ser2235=)
c.5701A= (p.Ser1901=)
c.149A=
c.6902A= (n.6902A=)
c.64+206A=
n.180A=
c.6757A= (p.Ser2253=)
c.6733A= (p.Ser2245=)
c.6793A= (p.Ser2265=)
17g.31338086A>CCA399014112NF1c.6748A>C (p.Ser2250Arg)
c.1330A>C (p.Ser444Arg)
n.2024A>C
c.922A>C (p.Ser308Arg)
n.3411A>C
c.6796A>C (p.Ser2266Arg)
c.6766A>C (p.Ser2256Arg)
c.6703A>C (p.Ser2235Arg)
c.5701A>C (p.Ser1901Arg)
c.149A>C
c.6902A>C (n.6902A>C)
c.64+206A>C
n.180A>C
c.6757A>C (p.Ser2253Arg)
c.6733A>C (p.Ser2245Arg)
c.6793A>C (p.Ser2265Arg)
17g.31338086A>GCA8487424NF1c.6748A>G (p.Ser2250Gly)
c.1330A>G (p.Ser444Gly)
n.2024A>G
c.922A>G (p.Ser308Gly)
n.3411A>G
c.6796A>G (p.Ser2266Gly)
c.6766A>G (p.Ser2256Gly)
c.6703A>G (p.Ser2235Gly)
c.5701A>G (p.Ser1901Gly)
c.149A>G
c.6902A>G (n.6902A>G)
c.64+206A>G
n.180A>G
c.6757A>G (p.Ser2253Gly)
c.6733A>G (p.Ser2245Gly)
c.6793A>G (p.Ser2265Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338086A>TCA399014113NF1c.6748A>T (p.Ser2250Cys)
c.1330A>T (p.Ser444Cys)
n.2024A>T
c.922A>T (p.Ser308Cys)
n.3411A>T
c.6796A>T (p.Ser2266Cys)
c.6766A>T (p.Ser2256Cys)
c.6703A>T (p.Ser2235Cys)
c.5701A>T (p.Ser1901Cys)
c.149A>T
c.6902A>T (n.6902A>T)
c.64+206A>T
n.180A>T
c.6757A>T (p.Ser2253Cys)
c.6733A>T (p.Ser2245Cys)
c.6793A>T (p.Ser2265Cys)
17g.31338087G>ACA399014114NF1c.6749G>A (p.Ser2250Asn)
c.1331G>A (p.Ser444Asn)
n.2025G>A
c.923G>A (p.Ser308Asn)
n.3412G>A
c.6797G>A (p.Ser2266Asn)
c.6767G>A (p.Ser2256Asn)
c.6704G>A (p.Ser2235Asn)
c.5702G>A (p.Ser1901Asn)
c.150G>A
c.6903G>A (n.6903G>A)
c.64+207G>A
n.181G>A
c.6758G>A (p.Ser2253Asn)
c.6734G>A (p.Ser2245Asn)
c.6794G>A (p.Ser2265Asn)
 dbSNP
17g.31338087G>CCA399014115NF1c.6749G>C (p.Ser2250Thr)
c.1331G>C (p.Ser444Thr)
n.2025G>C
c.923G>C (p.Ser308Thr)
n.3412G>C
c.6797G>C (p.Ser2266Thr)
c.6767G>C (p.Ser2256Thr)
c.6704G>C (p.Ser2235Thr)
c.5702G>C (p.Ser1901Thr)
c.150G>C
c.6903G>C (n.6903G>C)
c.64+207G>C
n.181G>C
c.6758G>C (p.Ser2253Thr)
c.6734G>C (p.Ser2245Thr)
c.6794G>C (p.Ser2265Thr)
 dbSNP
17g.31338087G>TCA399014116NF1c.6749G>T (p.Ser2250Ile)
c.1331G>T (p.Ser444Ile)
n.2025G>T
c.923G>T (p.Ser308Ile)
n.3412G>T
c.6797G>T (p.Ser2266Ile)
c.6767G>T (p.Ser2256Ile)
c.6704G>T (p.Ser2235Ile)
c.5702G>T (p.Ser1901Ile)
c.150G>T
c.6903G>T (n.6903G>T)
c.64+207G>T
n.181G>T
c.6758G>T (p.Ser2253Ile)
c.6734G>T (p.Ser2245Ile)
c.6794G>T (p.Ser2265Ile)
 dbSNP
17g.31338088C>ACA399014117NF1c.6750C>A (p.Ser2250Arg)
c.1332C>A (p.Ser444Arg)
n.2026C>A
c.924C>A (p.Ser308Arg)
n.3413C>A
c.6798C>A (p.Ser2266Arg)
c.6768C>A (p.Ser2256Arg)
c.6705C>A (p.Ser2235Arg)
c.5703C>A (p.Ser1901Arg)
c.151C>A
c.6904C>A (n.6904C>A)
c.64+208C>A
n.182C>A
c.6759C>A (p.Ser2253Arg)
c.6735C>A (p.Ser2245Arg)
c.6795C>A (p.Ser2265Arg)
 ClinVar dbSNP
17g.31338088C>GCA399014118NF1c.6750C>G (p.Ser2250Arg)
c.1332C>G (p.Ser444Arg)
n.2026C>G
c.924C>G (p.Ser308Arg)
n.3413C>G
c.6798C>G (p.Ser2266Arg)
c.6768C>G (p.Ser2256Arg)
c.6705C>G (p.Ser2235Arg)
c.5703C>G (p.Ser1901Arg)
c.151C>G
c.6904C>G (n.6904C>G)
c.64+208C>G
n.182C>G
c.6759C>G (p.Ser2253Arg)
c.6735C>G (p.Ser2245Arg)
c.6795C>G (p.Ser2265Arg)
 dbSNP gnomAD v4
17g.31338088C>TCA499234287NF1c.6750C>T (p.Ser2250=)
c.1332C>T (p.Ser444=)
n.2026C>T
c.924C>T (p.Ser308=)
n.3413C>T
c.6798C>T (p.Ser2266=)
c.6768C>T (p.Ser2256=)
c.6705C>T (p.Ser2235=)
c.5703C>T (p.Ser1901=)
c.151C>T
c.6904C>T (n.6904C>T)
c.64+208C>T
n.182C>T
c.6759C>T (p.Ser2253=)
c.6735C>T (p.Ser2245=)
c.6795C>T (p.Ser2265=)
 dbSNP
17g.31338088dupCA2695225168NF1c.6750dup (p.Lys2251GlnfsTer16)
c.1332dup (p.Lys445GlnfsTer16)
n.2026dup
c.924dup (p.Lys309GlnfsTer16)
n.3413dup
c.6798dup (p.Lys2267GlnfsTer16)
c.6768dup (p.Lys2257GlnfsTer16)
c.6705dup (p.Lys2236GlnfsTer16)
c.5703dup (p.Lys1902GlnfsTer16)
c.151dup
c.6904dup (n.6904dup)
c.64+208dup
n.182dup
c.6759dup (p.Lys2254GlnfsTer16)
c.6735dup (p.Lys2246GlnfsTer16)
c.6795dup (p.Lys2266GlnfsTer16)
17g.31338089A>CCA399014121NF1c.6751A>C (p.Lys2251Gln)
c.1333A>C (p.Lys445Gln)
n.2027A>C
c.925A>C (p.Lys309Gln)
n.3414A>C
c.6799A>C (p.Lys2267Gln)
c.6769A>C (p.Lys2257Gln)
c.6706A>C (p.Lys2236Gln)
c.5704A>C (p.Lys1902Gln)
c.152A>C
c.6905A>C (n.6905A>C)
c.64+209A>C
n.183A>C
c.6760A>C (p.Lys2254Gln)
c.6736A>C (p.Lys2246Gln)
c.6796A>C (p.Lys2266Gln)
17g.31338089A>GCA399014120NF1c.6751A>G (p.Lys2251Glu)
c.1333A>G (p.Lys445Glu)
n.2027A>G
c.925A>G (p.Lys309Glu)
n.3414A>G
c.6799A>G (p.Lys2267Glu)
c.6769A>G (p.Lys2257Glu)
c.6706A>G (p.Lys2236Glu)
c.5704A>G (p.Lys1902Glu)
c.152A>G
c.6905A>G (n.6905A>G)
c.64+209A>G
n.183A>G
c.6760A>G (p.Lys2254Glu)
c.6736A>G (p.Lys2246Glu)
c.6796A>G (p.Lys2266Glu)
17g.31338089A>TCA399014119NF1c.6751A>T (p.Lys2251Ter)
c.1333A>T (p.Lys445Ter)
n.2027A>T
c.925A>T (p.Lys309Ter)
n.3414A>T
c.6799A>T (p.Lys2267Ter)
c.6769A>T (p.Lys2257Ter)
c.6706A>T (p.Lys2236Ter)
c.5704A>T (p.Lys1902Ter)
c.152A>T
c.6905A>T (n.6905A>T)
c.64+209A>T
n.183A>T
c.6760A>T (p.Lys2254Ter)
c.6736A>T (p.Lys2246Ter)
c.6796A>T (p.Lys2266Ter)
 dbSNP
17g.31338090A>CCA399014122NF1c.6752A>C (p.Lys2251Thr)
c.1334A>C (p.Lys445Thr)
n.2028A>C
c.926A>C (p.Lys309Thr)
n.3415A>C
c.6800A>C (p.Lys2267Thr)
c.6770A>C (p.Lys2257Thr)
c.6707A>C (p.Lys2236Thr)
c.5705A>C (p.Lys1902Thr)
c.153A>C
c.6906A>C (n.6906A>C)
c.64+210A>C
n.184A>C
c.6761A>C (p.Lys2254Thr)
c.6737A>C (p.Lys2246Thr)
c.6797A>C (p.Lys2266Thr)
 dbSNP
17g.31338090A>GCA399014123NF1c.6752A>G (p.Lys2251Arg)
c.1334A>G (p.Lys445Arg)
n.2028A>G
c.926A>G (p.Lys309Arg)
n.3415A>G
c.6800A>G (p.Lys2267Arg)
c.6770A>G (p.Lys2257Arg)
c.6707A>G (p.Lys2236Arg)
c.5705A>G (p.Lys1902Arg)
c.153A>G
c.6906A>G (n.6906A>G)
c.64+210A>G
n.184A>G
c.6761A>G (p.Lys2254Arg)
c.6737A>G (p.Lys2246Arg)
c.6797A>G (p.Lys2266Arg)
 gnomAD v4
17g.31338090A>TCA399014124NF1c.6752A>T (p.Lys2251Ile)
c.1334A>T (p.Lys445Ile)
n.2028A>T
c.926A>T (p.Lys309Ile)
n.3415A>T
c.6800A>T (p.Lys2267Ile)
c.6770A>T (p.Lys2257Ile)
c.6707A>T (p.Lys2236Ile)
c.5705A>T (p.Lys1902Ile)
c.153A>T
c.6906A>T (n.6906A>T)
c.64+210A>T
n.184A>T
c.6761A>T (p.Lys2254Ile)
c.6737A>T (p.Lys2246Ile)
c.6797A>T (p.Lys2266Ile)
 dbSNP
17g.31338091A>CCA399014125NF1c.6753A>C (p.Lys2251Asn)
c.1335A>C (p.Lys445Asn)
n.2029A>C
c.927A>C (p.Lys309Asn)
n.3416A>C
c.6801A>C (p.Lys2267Asn)
c.6771A>C (p.Lys2257Asn)
c.6708A>C (p.Lys2236Asn)
c.5706A>C (p.Lys1902Asn)
c.154A>C
c.6907A>C (n.6907A>C)
c.64+211A>C
n.185A>C
c.6762A>C (p.Lys2254Asn)
c.6738A>C (p.Lys2246Asn)
c.6798A>C (p.Lys2266Asn)
 dbSNP
17g.31338091A>GCA499234288NF1c.6753A>G (p.Lys2251=)
c.1335A>G (p.Lys445=)
n.2029A>G
c.927A>G (p.Lys309=)
n.3416A>G
c.6801A>G (p.Lys2267=)
c.6771A>G (p.Lys2257=)
c.6708A>G (p.Lys2236=)
c.5706A>G (p.Lys1902=)
c.154A>G
c.6907A>G (n.6907A>G)
c.64+211A>G
n.185A>G
c.6762A>G (p.Lys2254=)
c.6738A>G (p.Lys2246=)
c.6798A>G (p.Lys2266=)
 ClinVar dbSNP
17g.31338091A>TCA399014126NF1c.6753A>T (p.Lys2251Asn)
c.1335A>T (p.Lys445Asn)
n.2029A>T
c.927A>T (p.Lys309Asn)
n.3416A>T
c.6801A>T (p.Lys2267Asn)
c.6771A>T (p.Lys2257Asn)
c.6708A>T (p.Lys2236Asn)
c.5706A>T (p.Lys1902Asn)
c.154A>T
c.6907A>T (n.6907A>T)
c.64+211A>T
n.185A>T
c.6762A>T (p.Lys2254Asn)
c.6738A>T (p.Lys2246Asn)
c.6798A>T (p.Lys2266Asn)
 ClinVar dbSNP
17g.31338092C>ACA499234289NF1c.6754C>A (p.Arg2252=)
c.1336C>A (p.Arg446=)
n.2030C>A
c.928C>A (p.Arg310=)
n.3417C>A
c.6802C>A (p.Arg2268=)
c.6772C>A (p.Arg2258=)
c.6709C>A (p.Arg2237=)
c.5707C>A (p.Arg1903=)
c.155C>A
c.6908C>A (n.6908C>A)
c.64+212C>A
n.186C>A
c.6763C>A (p.Arg2255=)
c.6739C>A (p.Arg2247=)
c.6799C>A (p.Arg2267=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338092C=CA2255602853NF1c.6754C= (p.Arg2252=)
c.1336C= (p.Arg446=)
n.2030C=
c.928C= (p.Arg310=)
n.3417C=
c.6802C= (p.Arg2268=)
c.6772C= (p.Arg2258=)
c.6709C= (p.Arg2237=)
c.5707C= (p.Arg1903=)
c.155C=
c.6908C= (n.6908C=)
c.64+212C=
n.186C=
c.6763C= (p.Arg2255=)
c.6739C= (p.Arg2247=)
c.6799C= (p.Arg2267=)
17g.31338092C>GCA399014127NF1c.6754C>G (p.Arg2252Gly)
c.1336C>G (p.Arg446Gly)
n.2030C>G
c.928C>G (p.Arg310Gly)
n.3417C>G
c.6802C>G (p.Arg2268Gly)
c.6772C>G (p.Arg2258Gly)
c.6709C>G (p.Arg2237Gly)
c.5707C>G (p.Arg1903Gly)
c.155C>G
c.6908C>G (n.6908C>G)
c.64+212C>G
n.186C>G
c.6763C>G (p.Arg2255Gly)
c.6739C>G (p.Arg2247Gly)
c.6799C>G (p.Arg2267Gly)
 ClinVar dbSNP
17g.31338092C>TCA10580388NF1c.6754C>T (p.Arg2252Ter)
c.1336C>T (p.Arg446Ter)
n.2030C>T
c.928C>T (p.Arg310Ter)
n.3417C>T
c.6802C>T (p.Arg2268Ter)
c.6772C>T (p.Arg2258Ter)
c.6709C>T (p.Arg2237Ter)
c.5707C>T (p.Arg1903Ter)
c.155C>T
c.6908C>T (n.6908C>T)
c.64+212C>T
n.186C>T
c.6763C>T (p.Arg2255Ter)
c.6739C>T (p.Arg2247Ter)
c.6799C>T (p.Arg2267Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
17g.31338092dupCA2695225169NF1c.6754dup (p.Arg2252ProfsTer15)
c.1336dup (p.Arg446ProfsTer15)
n.2030dup
c.928dup (p.Arg310ProfsTer15)
n.3417dup
c.6802dup (p.Arg2268ProfsTer15)
c.6772dup (p.Arg2258ProfsTer15)
c.6709dup (p.Arg2237ProfsTer15)
c.5707dup (p.Arg1903ProfsTer15)
c.155dup
c.6908dup (n.6908dup)
c.64+212dup
n.186dup
c.6763dup (p.Arg2255ProfsTer15)
c.6739dup (p.Arg2247ProfsTer15)
c.6799dup (p.Arg2267ProfsTer15)
17g.31338093G>ACA191443NF1c.6755G>A (p.Arg2252Gln)
c.1337G>A (p.Arg446Gln)
n.2031G>A
c.929G>A (p.Arg310Gln)
n.3418G>A
c.6803G>A (p.Arg2268Gln)
c.6773G>A (p.Arg2258Gln)
c.6710G>A (p.Arg2237Gln)
c.5708G>A (p.Arg1903Gln)
c.156G>A
c.6909G>A (n.6909G>A)
c.64+213G>A
n.187G>A
c.6764G>A (p.Arg2255Gln)
c.6740G>A (p.Arg2247Gln)
c.6800G>A (p.Arg2267Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.31338093G>CCA399014128NF1c.6755G>C (p.Arg2252Pro)
c.1337G>C (p.Arg446Pro)
n.2031G>C
c.929G>C (p.Arg310Pro)
n.3418G>C
c.6803G>C (p.Arg2268Pro)
c.6773G>C (p.Arg2258Pro)
c.6710G>C (p.Arg2237Pro)
c.5708G>C (p.Arg1903Pro)
c.156G>C
c.6909G>C (n.6909G>C)
c.64+213G>C
n.187G>C
c.6764G>C (p.Arg2255Pro)
c.6740G>C (p.Arg2247Pro)
c.6800G>C (p.Arg2267Pro)
 dbSNP
17g.31338093G=CA2255602854NF1c.6755G= (p.Arg2252=)
c.1337G= (p.Arg446=)
n.2031G=
c.929G= (p.Arg310=)
n.3418G=
c.6803G= (p.Arg2268=)
c.6773G= (p.Arg2258=)
c.6710G= (p.Arg2237=)
c.5708G= (p.Arg1903=)
c.156G=
c.6909G= (n.6909G=)
c.64+213G=
n.187G=
c.6764G= (p.Arg2255=)
c.6740G= (p.Arg2247=)
c.6800G= (p.Arg2267=)
17g.31338093G>TCA399014129NF1c.6755G>T (p.Arg2252Leu)
c.1337G>T (p.Arg446Leu)
n.2031G>T
c.929G>T (p.Arg310Leu)
n.3418G>T
c.6803G>T (p.Arg2268Leu)
c.6773G>T (p.Arg2258Leu)
c.6710G>T (p.Arg2237Leu)
c.5708G>T (p.Arg1903Leu)
c.156G>T
c.6909G>T (n.6909G>T)
c.64+213G>T
n.187G>T
c.6764G>T (p.Arg2255Leu)
c.6740G>T (p.Arg2247Leu)
c.6800G>T (p.Arg2267Leu)
 dbSNP
17g.31338094A>CCA499234290NF1c.6756A>C (p.Arg2252=)
c.1338A>C (p.Arg446=)
n.2032A>C
c.930A>C (p.Arg310=)
n.3419A>C
c.6804A>C (p.Arg2268=)
c.6774A>C (p.Arg2258=)
c.6711A>C (p.Arg2237=)
c.5709A>C (p.Arg1903=)
c.157A>C
c.6910A>C (n.6910A>C)
c.64+214A>C
n.188A>C
c.6765A>C (p.Arg2255=)
c.6741A>C (p.Arg2247=)
c.6801A>C (p.Arg2267=)
17g.31338094A>GCA499234291NF1c.6756A>G (p.Arg2252=)
c.1338A>G (p.Arg446=)
n.2032A>G
c.930A>G (p.Arg310=)
n.3419A>G
c.6804A>G (p.Arg2268=)
c.6774A>G (p.Arg2258=)
c.6711A>G (p.Arg2237=)
c.5709A>G (p.Arg1903=)
c.157A>G
c.6910A>G (n.6910A>G)
c.64+214A>G
n.188A>G
c.6765A>G (p.Arg2255=)
c.6741A>G (p.Arg2247=)
c.6801A>G (p.Arg2267=)
17g.31338094A>TCA499234292NF1c.6756A>T (p.Arg2252=)
c.1338A>T (p.Arg446=)
n.2032A>T
c.930A>T (p.Arg310=)
n.3419A>T
c.6804A>T (p.Arg2268=)
c.6774A>T (p.Arg2258=)
c.6711A>T (p.Arg2237=)
c.5709A>T (p.Arg1903=)
c.157A>T
c.6910A>T (n.6910A>T)
c.64+214A>T
n.188A>T
c.6765A>T (p.Arg2255=)
c.6741A>T (p.Arg2247=)
c.6801A>T (p.Arg2267=)
 dbSNP
17g.31338094_31338095insCCA2695225171NF1c.6756_6757insC (p.Val2253ArgfsTer14)
c.1338_1339insC (p.Val447ArgfsTer14)
n.2032_2033insC
c.930_931insC (p.Val311ArgfsTer14)
n.3419_3420insC
c.6804_6805insC (p.Val2269ArgfsTer14)
c.6774_6775insC (p.Val2259ArgfsTer14)
c.6711_6712insC (p.Val2238ArgfsTer14)
c.5709_5710insC (p.Val1904ArgfsTer14)
c.157_158insC
c.6910_6911insC (n.6910_6911insC)
c.64+214_64+215insC
n.188_189insC
c.6765_6766insC (p.Val2256ArgfsTer14)
c.6741_6742insC (p.Val2248ArgfsTer14)
c.6801_6802insC (p.Val2268ArgfsTer14)
17g.31338095G>ACA399014130NF1c.6757G>A (p.Val2253Met)
c.1339G>A (p.Val447Met)
n.2033G>A
c.931G>A (p.Val311Met)
n.3420G>A
c.6805G>A (p.Val2269Met)
c.6775G>A (p.Val2259Met)
c.6712G>A (p.Val2238Met)
c.5710G>A (p.Val1904Met)
c.158G>A
c.6911G>A (n.6911G>A)
c.64+215G>A
n.189G>A
c.6766G>A (p.Val2256Met)
c.6742G>A (p.Val2248Met)
c.6802G>A (p.Val2268Met)
 ClinVar dbSNP
17g.31338095G>CCA399014131NF1c.6757G>C (p.Val2253Leu)
c.1339G>C (p.Val447Leu)
n.2033G>C
c.931G>C (p.Val311Leu)
n.3420G>C
c.6805G>C (p.Val2269Leu)
c.6775G>C (p.Val2259Leu)
c.6712G>C (p.Val2238Leu)
c.5710G>C (p.Val1904Leu)
c.158G>C
c.6911G>C (n.6911G>C)
c.64+215G>C
n.189G>C
c.6766G>C (p.Val2256Leu)
c.6742G>C (p.Val2248Leu)
c.6802G>C (p.Val2268Leu)
 dbSNP
17g.31338095G=CA2255602855NF1c.6757G= (p.Val2253=)
c.1339G= (p.Val447=)
n.2033G=
c.931G= (p.Val311=)
n.3420G=
c.6805G= (p.Val2269=)
c.6775G= (p.Val2259=)
c.6712G= (p.Val2238=)
c.5710G= (p.Val1904=)
c.158G=
c.6911G= (n.6911G=)
c.64+215G=
n.189G=
c.6766G= (p.Val2256=)
c.6742G= (p.Val2248=)
c.6802G= (p.Val2268=)
17g.31338095G>TCA399014132NF1c.6757G>T (p.Val2253Leu)
c.1339G>T (p.Val447Leu)
n.2033G>T
c.931G>T (p.Val311Leu)
n.3420G>T
c.6805G>T (p.Val2269Leu)
c.6775G>T (p.Val2259Leu)
c.6712G>T (p.Val2238Leu)
c.5710G>T (p.Val1904Leu)
c.158G>T
c.6911G>T (n.6911G>T)
c.64+215G>T
n.189G>T
c.6766G>T (p.Val2256Leu)
c.6742G>T (p.Val2248Leu)
c.6802G>T (p.Val2268Leu)
 ClinVar
17g.31338097_31338098delCA2695225170NF1c.6759_6760del (p.His2255TrpfsTer11)
c.1341_1342del (p.His449TrpfsTer11)
n.2035_2036del
c.933_934del (p.His313TrpfsTer11)
n.3422_3423del
c.6807_6808del (p.His2271TrpfsTer11)
c.6777_6778del (p.His2261TrpfsTer11)
c.6714_6715del (p.His2240TrpfsTer11)
c.5712_5713del (p.His1906TrpfsTer11)
c.160_161del
c.6913_6914del (n.6913_6914del)
c.64+217_64+218del
n.191_192del
c.6768_6769del (p.His2258TrpfsTer11)
c.6744_6745del (p.His2250TrpfsTer11)
c.6804_6805del (p.His2270TrpfsTer11)
17g.31338096T>ACA399014134NF1c.6758T>A (p.Val2253Glu)
c.1340T>A (p.Val447Glu)
n.2034T>A
c.932T>A (p.Val311Glu)
n.3421T>A
c.6806T>A (p.Val2269Glu)
c.6776T>A (p.Val2259Glu)
c.6713T>A (p.Val2238Glu)
c.5711T>A (p.Val1904Glu)
c.159T>A
c.6912T>A (n.6912T>A)
c.64+216T>A
n.190T>A
c.6767T>A (p.Val2256Glu)
c.6743T>A (p.Val2248Glu)
c.6803T>A (p.Val2268Glu)
 dbSNP
17g.31338096T>CCA399014135NF1c.6758T>C (p.Val2253Ala)
c.1340T>C (p.Val447Ala)
n.2034T>C
c.932T>C (p.Val311Ala)
n.3421T>C
c.6806T>C (p.Val2269Ala)
c.6776T>C (p.Val2259Ala)
c.6713T>C (p.Val2238Ala)
c.5711T>C (p.Val1904Ala)
c.159T>C
c.6912T>C (n.6912T>C)
c.64+216T>C
n.190T>C
c.6767T>C (p.Val2256Ala)
c.6743T>C (p.Val2248Ala)
c.6803T>C (p.Val2268Ala)
 ClinVar dbSNP
17g.31338096T>GCA399014133NF1c.6758T>G (p.Val2253Gly)
c.1340T>G (p.Val447Gly)
n.2034T>G
c.932T>G (p.Val311Gly)
n.3421T>G
c.6806T>G (p.Val2269Gly)
c.6776T>G (p.Val2259Gly)
c.6713T>G (p.Val2238Gly)
c.5711T>G (p.Val1904Gly)
c.159T>G
c.6912T>G (n.6912T>G)
c.64+216T>G
n.190T>G
c.6767T>G (p.Val2256Gly)
c.6743T>G (p.Val2248Gly)
c.6803T>G (p.Val2268Gly)
 dbSNP
17g.31338096T=CA2255602856NF1c.6758T= (p.Val2253=)
c.1340T= (p.Val447=)
n.2034T=
c.932T= (p.Val311=)
n.3421T=
c.6806T= (p.Val2269=)
c.6776T= (p.Val2259=)
c.6713T= (p.Val2238=)
c.5711T= (p.Val1904=)
c.159T=
c.6912T= (n.6912T=)
c.64+216T=
n.190T=
c.6767T= (p.Val2256=)
c.6743T= (p.Val2248=)
c.6803T= (p.Val2268=)
17g.31338097delCA2580614070NF1c.6759del (p.Ser2254LeufsTer5)
c.1341del (p.Ser448LeufsTer5)
n.2035del
c.933del (p.Ser312LeufsTer5)
n.3422del
c.6807del (p.Ser2270LeufsTer5)
c.6777del (p.Ser2260LeufsTer5)
c.6714del (p.Ser2239LeufsTer5)
c.5712del (p.Ser1905LeufsTer5)
c.160del
c.6913del (n.6913del)
c.64+217del
n.191del
c.6768del (p.Ser2257LeufsTer5)
c.6744del (p.Ser2249LeufsTer5)
c.6804del (p.Ser2269LeufsTer5)
 ClinVar
17g.31338097G>ACA499234293NF1c.6759G>A (p.Val2253=)
c.1341G>A (p.Val447=)
n.2035G>A
c.933G>A (p.Val311=)
n.3422G>A
c.6807G>A (p.Val2269=)
c.6777G>A (p.Val2259=)
c.6714G>A (p.Val2238=)
c.5712G>A (p.Val1904=)
c.160G>A
c.6913G>A (n.6913G>A)
c.64+217G>A
n.191G>A
c.6768G>A (p.Val2256=)
c.6744G>A (p.Val2248=)
c.6804G>A (p.Val2268=)
 ClinVar dbSNP gnomAD v4
17g.31338097G>CCA499234294NF1c.6759G>C (p.Val2253=)
c.1341G>C (p.Val447=)
n.2035G>C
c.933G>C (p.Val311=)
n.3422G>C
c.6807G>C (p.Val2269=)
c.6777G>C (p.Val2259=)
c.6714G>C (p.Val2238=)
c.5712G>C (p.Val1904=)
c.160G>C
c.6913G>C (n.6913G>C)
c.64+217G>C
n.191G>C
c.6768G>C (p.Val2256=)
c.6744G>C (p.Val2248=)
c.6804G>C (p.Val2268=)
17g.31338097G=CA2255602857NF1c.6759G= (p.Val2253=)
c.1341G= (p.Val447=)
n.2035G=
c.933G= (p.Val311=)
n.3422G=
c.6807G= (p.Val2269=)
c.6777G= (p.Val2259=)
c.6714G= (p.Val2238=)
c.5712G= (p.Val1904=)
c.160G=
c.6913G= (n.6913G=)
c.64+217G=
n.191G=
c.6768G= (p.Val2256=)
c.6744G= (p.Val2248=)
c.6804G= (p.Val2268=)
17g.31338097G>TCA499234295NF1c.6759G>T (p.Val2253=)
c.1341G>T (p.Val447=)
n.2035G>T
c.933G>T (p.Val311=)
n.3422G>T
c.6807G>T (p.Val2269=)
c.6777G>T (p.Val2259=)
c.6714G>T (p.Val2238=)
c.5712G>T (p.Val1904=)
c.160G>T
c.6913G>T (n.6913G>T)
c.64+217G>T
n.191G>T
c.6768G>T (p.Val2256=)
c.6744G>T (p.Val2248=)
c.6804G>T (p.Val2268=)
17g.31338098T>ACA399014137NF1c.6760T>A (p.Ser2254Thr)
c.1342T>A (p.Ser448Thr)
n.2036T>A
c.934T>A (p.Ser312Thr)
n.3423T>A
c.6808T>A (p.Ser2270Thr)
c.6778T>A (p.Ser2260Thr)
c.6715T>A (p.Ser2239Thr)
c.5713T>A (p.Ser1905Thr)
c.161T>A
c.6914T>A (n.6914T>A)
c.64+218T>A
n.192T>A
c.6769T>A (p.Ser2257Thr)
c.6745T>A (p.Ser2249Thr)
c.6805T>A (p.Ser2269Thr)
 dbSNP
17g.31338098T>CCA399014136NF1c.6760T>C (p.Ser2254Pro)
c.1342T>C (p.Ser448Pro)
n.2036T>C
c.934T>C (p.Ser312Pro)
n.3423T>C
c.6808T>C (p.Ser2270Pro)
c.6778T>C (p.Ser2260Pro)
c.6715T>C (p.Ser2239Pro)
c.5713T>C (p.Ser1905Pro)
c.161T>C
c.6914T>C (n.6914T>C)
c.64+218T>C
n.192T>C
c.6769T>C (p.Ser2257Pro)
c.6745T>C (p.Ser2249Pro)
c.6805T>C (p.Ser2269Pro)
17g.31338098T>GCA399014138NF1c.6760T>G (p.Ser2254Ala)
c.1342T>G (p.Ser448Ala)
n.2036T>G
c.934T>G (p.Ser312Ala)
n.3423T>G
c.6808T>G (p.Ser2270Ala)
c.6778T>G (p.Ser2260Ala)
c.6715T>G (p.Ser2239Ala)
c.5713T>G (p.Ser1905Ala)
c.161T>G
c.6914T>G (n.6914T>G)
c.64+218T>G
n.192T>G
c.6769T>G (p.Ser2257Ala)
c.6745T>G (p.Ser2249Ala)
c.6805T>G (p.Ser2269Ala)
17g.31338099C>ACA399014139NF1c.6761C>A (p.Ser2254Tyr)
c.1343C>A (p.Ser448Tyr)
n.2037C>A
c.935C>A (p.Ser312Tyr)
n.3424C>A
c.6809C>A (p.Ser2270Tyr)
c.6779C>A (p.Ser2260Tyr)
c.6716C>A (p.Ser2239Tyr)
c.5714C>A (p.Ser1905Tyr)
c.162C>A
c.6915C>A (n.6915C>A)
c.64+219C>A
n.193C>A
c.6770C>A (p.Ser2257Tyr)
c.6746C>A (p.Ser2249Tyr)
c.6806C>A (p.Ser2269Tyr)
 dbSNP
17g.31338099C=CA2255602858NF1c.6761C= (p.Ser2254=)
c.1343C= (p.Ser448=)
n.2037C=
c.935C= (p.Ser312=)
n.3424C=
c.6809C= (p.Ser2270=)
c.6779C= (p.Ser2260=)
c.6716C= (p.Ser2239=)
c.5714C= (p.Ser1905=)
c.162C=
c.6915C= (n.6915C=)
c.64+219C=
n.193C=
c.6770C= (p.Ser2257=)
c.6746C= (p.Ser2249=)
c.6806C= (p.Ser2269=)
17g.31338099C>GCA399014140NF1c.6761C>G (p.Ser2254Cys)
c.1343C>G (p.Ser448Cys)
n.2037C>G
c.935C>G (p.Ser312Cys)
n.3424C>G
c.6809C>G (p.Ser2270Cys)
c.6779C>G (p.Ser2260Cys)
c.6716C>G (p.Ser2239Cys)
c.5714C>G (p.Ser1905Cys)
c.162C>G
c.6915C>G (n.6915C>G)
c.64+219C>G
n.193C>G
c.6770C>G (p.Ser2257Cys)
c.6746C>G (p.Ser2249Cys)
c.6806C>G (p.Ser2269Cys)
 dbSNP
17g.31338099C>TCA10580389NF1c.6761C>T (p.Ser2254Phe)
c.1343C>T (p.Ser448Phe)
n.2037C>T
c.935C>T (p.Ser312Phe)
n.3424C>T
c.6809C>T (p.Ser2270Phe)
c.6779C>T (p.Ser2260Phe)
c.6716C>T (p.Ser2239Phe)
c.5714C>T (p.Ser1905Phe)
c.162C>T
c.6915C>T (n.6915C>T)
c.64+219C>T
n.193C>T
c.6770C>T (p.Ser2257Phe)
c.6746C>T (p.Ser2249Phe)
c.6806C>T (p.Ser2269Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338099_31338111delinsCTCATGGGCAGATCA2255602859NF1c.6761_6773delinsCTCATGGGCAGAT (p.Ser2254=)
c.1343_1355delinsCTCATGGGCAGAT (p.Ser448=)
n.2037_2049delinsCTCATGGGCAGAT
c.935_947delinsCTCATGGGCAGAT (p.Ser312=)
n.3424_3436delinsCTCATGGGCAGAT
c.6809_6821delinsCTCATGGGCAGAT (p.Ser2270=)
c.6779_6791delinsCTCATGGGCAGAT (p.Ser2260=)
c.6716_6728delinsCTCATGGGCAGAT (p.Ser2239=)
c.5714_5726delinsCTCATGGGCAGAT (p.Ser1905=)
c.162_174delinsCTCATGGGCAGAT
c.6915_6927delinsCTCATGGGCAGAT (n.6915_6927delinsCTCATGGGCAGAT)
c.64+219_64+231delinsCTCATGGGCAGAT
n.193_205delinsCTCATGGGCAGAT
c.6770_6782delinsCTCATGGGCAGAT (p.Ser2257=)
c.6746_6758delinsCTCATGGGCAGAT (p.Ser2249=)
c.6806_6818delinsCTCATGGGCAGAT (p.Ser2269=)
17g.31338100T>ACA499234296NF1c.6762T>A (p.Ser2254=)
c.1344T>A (p.Ser448=)
n.2038T>A
c.936T>A (p.Ser312=)
n.3425T>A
c.6810T>A (p.Ser2270=)
c.6780T>A (p.Ser2260=)
c.6717T>A (p.Ser2239=)
c.5715T>A (p.Ser1905=)
c.163T>A
c.6916T>A (n.6916T>A)
c.64+220T>A
n.194T>A
c.6771T>A (p.Ser2257=)
c.6747T>A (p.Ser2249=)
c.6807T>A (p.Ser2269=)
 dbSNP
17g.31338100T>CCA499234297NF1c.6762T>C (p.Ser2254=)
c.1344T>C (p.Ser448=)
n.2038T>C
c.936T>C (p.Ser312=)
n.3425T>C
c.6810T>C (p.Ser2270=)
c.6780T>C (p.Ser2260=)
c.6717T>C (p.Ser2239=)
c.5715T>C (p.Ser1905=)
c.163T>C
c.6916T>C (n.6916T>C)
c.64+220T>C
n.194T>C
c.6771T>C (p.Ser2257=)
c.6747T>C (p.Ser2249=)
c.6807T>C (p.Ser2269=)
17g.31338100T>GCA499234298NF1c.6762T>G (p.Ser2254=)
c.1344T>G (p.Ser448=)
n.2038T>G
c.936T>G (p.Ser312=)
n.3425T>G
c.6810T>G (p.Ser2270=)
c.6780T>G (p.Ser2260=)
c.6717T>G (p.Ser2239=)
c.5715T>G (p.Ser1905=)
c.163T>G
c.6916T>G (n.6916T>G)
c.64+220T>G
n.194T>G
c.6771T>G (p.Ser2257=)
c.6747T>G (p.Ser2249=)
c.6807T>G (p.Ser2269=)
17g.31338100_31338111delinsATGAGACCA658824587NF1c.6762_6773delinsATGAGAC (p.His2255Ter)
c.1344_1355delinsATGAGAC (p.His449Ter)
n.2038_2049delinsATGAGAC
c.936_947delinsATGAGAC (p.His313Ter)
n.3425_3436delinsATGAGAC
c.6810_6821delinsATGAGAC (p.His2271Ter)
c.6780_6791delinsATGAGAC (p.His2261Ter)
c.6717_6728delinsATGAGAC (p.His2240Ter)
c.5715_5726delinsATGAGAC (p.His1906Ter)
c.163_174delinsATGAGAC
c.6916_6927delinsATGAGAC (n.6916_6927delinsATGAGAC)
c.64+220_64+231delinsATGAGAC
n.194_205delinsATGAGAC
c.6771_6782delinsATGAGAC (p.His2258Ter)
c.6747_6758delinsATGAGAC (p.His2250Ter)
c.6807_6818delinsATGAGAC (p.His2270Ter)
 ClinVar dbSNP
17g.31338101C>ACA399014141NF1c.6763C>A (p.His2255Asn)
c.1345C>A (p.His449Asn)
n.2039C>A
c.937C>A (p.His313Asn)
n.3426C>A
c.6811C>A (p.His2271Asn)
c.6781C>A (p.His2261Asn)
c.6718C>A (p.His2240Asn)
c.5716C>A (p.His1906Asn)
c.164C>A
c.6917C>A (n.6917C>A)
c.64+221C>A
n.195C>A
c.6772C>A (p.His2258Asn)
c.6748C>A (p.His2250Asn)
c.6808C>A (p.His2270Asn)
17g.31338101C=CA2255602860NF1c.6763C= (p.His2255=)
c.1345C= (p.His449=)
n.2039C=
c.937C= (p.His313=)
n.3426C=
c.6811C= (p.His2271=)
c.6781C= (p.His2261=)
c.6718C= (p.His2240=)
c.5716C= (p.His1906=)
c.164C=
c.6917C= (n.6917C=)
c.64+221C=
n.195C=
c.6772C= (p.His2258=)
c.6748C= (p.His2250=)
c.6808C= (p.His2270=)
17g.31338101C>GCA399014142NF1c.6763C>G (p.His2255Asp)
c.1345C>G (p.His449Asp)
n.2039C>G
c.937C>G (p.His313Asp)
n.3426C>G
c.6811C>G (p.His2271Asp)
c.6781C>G (p.His2261Asp)
c.6718C>G (p.His2240Asp)
c.5716C>G (p.His1906Asp)
c.164C>G
c.6917C>G (n.6917C>G)
c.64+221C>G
n.195C>G
c.6772C>G (p.His2258Asp)
c.6748C>G (p.His2250Asp)
c.6808C>G (p.His2270Asp)
 ClinVar dbSNP
17g.31338101C>TCA8487425NF1c.6763C>T (p.His2255Tyr)
c.1345C>T (p.His449Tyr)
n.2039C>T
c.937C>T (p.His313Tyr)
n.3426C>T
c.6811C>T (p.His2271Tyr)
c.6781C>T (p.His2261Tyr)
c.6718C>T (p.His2240Tyr)
c.5716C>T (p.His1906Tyr)
c.164C>T
c.6917C>T (n.6917C>T)
c.64+221C>T
n.195C>T
c.6772C>T (p.His2258Tyr)
c.6748C>T (p.His2250Tyr)
c.6808C>T (p.His2270Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338102A=CA2255602861NF1c.6764A= (p.His2255=)
c.1346A= (p.His449=)
n.2040A=
c.938A= (p.His313=)
n.3427A=
c.6812A= (p.His2271=)
c.6782A= (p.His2261=)
c.6719A= (p.His2240=)
c.5717A= (p.His1906=)
c.165A=
c.6918A= (n.6918A=)
c.64+222A=
n.196A=
c.6773A= (p.His2258=)
c.6749A= (p.His2250=)
c.6809A= (p.His2270=)
17g.31338102A>CCA399014144NF1c.6764A>C (p.His2255Pro)
c.1346A>C (p.His449Pro)
n.2040A>C
c.938A>C (p.His313Pro)
n.3427A>C
c.6812A>C (p.His2271Pro)
c.6782A>C (p.His2261Pro)
c.6719A>C (p.His2240Pro)
c.5717A>C (p.His1906Pro)
c.165A>C
c.6918A>C (n.6918A>C)
c.64+222A>C
n.196A>C
c.6773A>C (p.His2258Pro)
c.6749A>C (p.His2250Pro)
c.6809A>C (p.His2270Pro)
 ClinVar dbSNP
17g.31338102A>GCA215745NF1c.6764A>G (p.His2255Arg)
c.1346A>G (p.His449Arg)
n.2040A>G
c.938A>G (p.His313Arg)
n.3427A>G
c.6812A>G (p.His2271Arg)
c.6782A>G (p.His2261Arg)
c.6719A>G (p.His2240Arg)
c.5717A>G (p.His1906Arg)
c.165A>G
c.6918A>G (n.6918A>G)
c.64+222A>G
n.196A>G
c.6773A>G (p.His2258Arg)
c.6749A>G (p.His2250Arg)
c.6809A>G (p.His2270Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338102A>TCA399014143NF1c.6764A>T (p.His2255Leu)
c.1346A>T (p.His449Leu)
n.2040A>T
c.938A>T (p.His313Leu)
n.3427A>T
c.6812A>T (p.His2271Leu)
c.6782A>T (p.His2261Leu)
c.6719A>T (p.His2240Leu)
c.5717A>T (p.His1906Leu)
c.165A>T
c.6918A>T (n.6918A>T)
c.64+222A>T
n.196A>T
c.6773A>T (p.His2258Leu)
c.6749A>T (p.His2250Leu)
c.6809A>T (p.His2270Leu)
 ClinVar dbSNP COSMIC
17g.31338103T>ACA399014145NF1c.6765T>A (p.His2255Gln)
c.1347T>A (p.His449Gln)
n.2041T>A
c.939T>A (p.His313Gln)
n.3428T>A
c.6813T>A (p.His2271Gln)
c.6783T>A (p.His2261Gln)
c.6720T>A (p.His2240Gln)
c.5718T>A (p.His1906Gln)
c.166T>A
c.6919T>A (n.6919T>A)
c.64+223T>A
n.197T>A
c.6774T>A (p.His2258Gln)
c.6750T>A (p.His2250Gln)
c.6810T>A (p.His2270Gln)
 gnomAD v4
17g.31338103T>CCA499234299NF1c.6765T>C (p.His2255=)
c.1347T>C (p.His449=)
n.2041T>C
c.939T>C (p.His313=)
n.3428T>C
c.6813T>C (p.His2271=)
c.6783T>C (p.His2261=)
c.6720T>C (p.His2240=)
c.5718T>C (p.His1906=)
c.166T>C
c.6919T>C (n.6919T>C)
c.64+223T>C
n.197T>C
c.6774T>C (p.His2258=)
c.6750T>C (p.His2250=)
c.6810T>C (p.His2270=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338103T>GCA399014146NF1c.6765T>G (p.His2255Gln)
c.1347T>G (p.His449Gln)
n.2041T>G
c.939T>G (p.His313Gln)
n.3428T>G
c.6813T>G (p.His2271Gln)
c.6783T>G (p.His2261Gln)
c.6720T>G (p.His2240Gln)
c.5718T>G (p.His1906Gln)
c.166T>G
c.6919T>G (n.6919T>G)
c.64+223T>G
n.197T>G
c.6774T>G (p.His2258Gln)
c.6750T>G (p.His2250Gln)
c.6810T>G (p.His2270Gln)
17g.31338103T=CA2255602862NF1c.6765T= (p.His2255=)
c.1347T= (p.His449=)
n.2041T=
c.939T= (p.His313=)
n.3428T=
c.6813T= (p.His2271=)
c.6783T= (p.His2261=)
c.6720T= (p.His2240=)
c.5718T= (p.His1906=)
c.166T=
c.6919T= (n.6919T=)
c.64+223T=
n.197T=
c.6774T= (p.His2258=)
c.6750T= (p.His2250=)
c.6810T= (p.His2270=)
17g.31338104G>ACA399014147NF1c.6766G>A (p.Gly2256Arg)
c.1348G>A (p.Gly450Arg)
n.2042G>A
c.940G>A (p.Gly314Arg)
n.3429G>A
c.6814G>A (p.Gly2272Arg)
c.6784G>A (p.Gly2262Arg)
c.6721G>A (p.Gly2241Arg)
c.5719G>A (p.Gly1907Arg)
c.167G>A
c.6920G>A (n.6920G>A)
c.64+224G>A
n.198G>A
c.6775G>A (p.Gly2259Arg)
c.6751G>A (p.Gly2251Arg)
c.6811G>A (p.Gly2271Arg)
 dbSNP
17g.31338104G>CCA399014148NF1c.6766G>C (p.Gly2256Arg)
c.1348G>C (p.Gly450Arg)
n.2042G>C
c.940G>C (p.Gly314Arg)
n.3429G>C
c.6814G>C (p.Gly2272Arg)
c.6784G>C (p.Gly2262Arg)
c.6721G>C (p.Gly2241Arg)
c.5719G>C (p.Gly1907Arg)
c.167G>C
c.6920G>C (n.6920G>C)
c.64+224G>C
n.198G>C
c.6775G>C (p.Gly2259Arg)
c.6751G>C (p.Gly2251Arg)
c.6811G>C (p.Gly2271Arg)
 dbSNP
17g.31338104G=CA2255602863NF1c.6766G= (p.Gly2256=)
c.1348G= (p.Gly450=)
n.2042G=
c.940G= (p.Gly314=)
n.3429G=
c.6814G= (p.Gly2272=)
c.6784G= (p.Gly2262=)
c.6721G= (p.Gly2241=)
c.5719G= (p.Gly1907=)
c.167G=
c.6920G= (n.6920G=)
c.64+224G=
n.198G=
c.6775G= (p.Gly2259=)
c.6751G= (p.Gly2251=)
c.6811G= (p.Gly2271=)
17g.31338104G>TCA399014149NF1c.6766G>T (p.Gly2256Trp)
c.1348G>T (p.Gly450Trp)
n.2042G>T
c.940G>T (p.Gly314Trp)
n.3429G>T
c.6814G>T (p.Gly2272Trp)
c.6784G>T (p.Gly2262Trp)
c.6721G>T (p.Gly2241Trp)
c.5719G>T (p.Gly1907Trp)
c.167G>T
c.6920G>T (n.6920G>T)
c.64+224G>T
n.198G>T
c.6775G>T (p.Gly2259Trp)
c.6751G>T (p.Gly2251Trp)
c.6811G>T (p.Gly2271Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31338104_31338121dupCA2573153865NF1c.6766_6783dup (p.Ile2261_Ile2262insGlyGlnIleLysGlnIle)
c.1348_1365dup (p.Ile455_Ile456insGlyGlnIleLysGlnIle)
n.2042_2059dup
c.940_957dup (p.Ile319_Ile320insGlyGlnIleLysGlnIle)
n.3429_3446dup
c.6814_6831dup (p.Ile2277_Ile2278insGlyGlnIleLysGlnIle)
c.6784_6801dup (p.Ile2267_Ile2268insGlyGlnIleLysGlnIle)
c.6721_6738dup (p.Ile2246_Ile2247insGlyGlnIleLysGlnIle)
c.5719_5736dup (p.Ile1912_Ile1913insGlyGlnIleLysGlnIle)
c.167_184dup
c.6920_6937dup (n.6920_6937dup)
c.64+224_64+241dup
n.198_215dup
c.6775_6792dup (p.Ile2264_Ile2265insGlyGlnIleLysGlnIle)
c.6751_6768dup (p.Ile2256_Ile2257insGlyGlnIleLysGlnIle)
c.6811_6828dup (p.Ile2276_Ile2277insGlyGlnIleLysGlnIle)
 ClinVar dbSNP
17g.31338105G>ACA289387766NF1c.6767G>A (p.Gly2256Glu)
c.1349G>A (p.Gly450Glu)
n.2043G>A
c.941G>A (p.Gly314Glu)
n.3430G>A
c.6815G>A (p.Gly2272Glu)
c.6785G>A (p.Gly2262Glu)
c.6722G>A (p.Gly2241Glu)
c.5720G>A (p.Gly1907Glu)
c.168G>A
c.6921G>A (n.6921G>A)
c.64+225G>A
n.199G>A
c.6776G>A (p.Gly2259Glu)
c.6752G>A (p.Gly2251Glu)
c.6812G>A (p.Gly2271Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31338105G>CCA399014150NF1c.6767G>C (p.Gly2256Ala)
c.1349G>C (p.Gly450Ala)
n.2043G>C
c.941G>C (p.Gly314Ala)
n.3430G>C
c.6815G>C (p.Gly2272Ala)
c.6785G>C (p.Gly2262Ala)
c.6722G>C (p.Gly2241Ala)
c.5720G>C (p.Gly1907Ala)
c.168G>C
c.6921G>C (n.6921G>C)
c.64+225G>C
n.199G>C
c.6776G>C (p.Gly2259Ala)
c.6752G>C (p.Gly2251Ala)
c.6812G>C (p.Gly2271Ala)
 dbSNP
17g.31338105G=CA2255602864NF1c.6767G= (p.Gly2256=)
c.1349G= (p.Gly450=)
n.2043G=
c.941G= (p.Gly314=)
n.3430G=
c.6815G= (p.Gly2272=)
c.6785G= (p.Gly2262=)
c.6722G= (p.Gly2241=)
c.5720G= (p.Gly1907=)
c.168G=
c.6921G= (n.6921G=)
c.64+225G=
n.199G=
c.6776G= (p.Gly2259=)
c.6752G= (p.Gly2251=)
c.6812G= (p.Gly2271=)
17g.31338105G>TCA399014151NF1c.6767G>T (p.Gly2256Val)
c.1349G>T (p.Gly450Val)
n.2043G>T
c.941G>T (p.Gly314Val)
n.3430G>T
c.6815G>T (p.Gly2272Val)
c.6785G>T (p.Gly2262Val)
c.6722G>T (p.Gly2241Val)
c.5720G>T (p.Gly1907Val)
c.168G>T
c.6921G>T (n.6921G>T)
c.64+225G>T
n.199G>T
c.6776G>T (p.Gly2259Val)
c.6752G>T (p.Gly2251Val)
c.6812G>T (p.Gly2271Val)
 dbSNP
17g.31338106G>ACA10583520NF1c.6768G>A (p.Gly2256=)
c.1350G>A (p.Gly450=)
n.2044G>A
c.942G>A (p.Gly314=)
n.3431G>A
c.6816G>A (p.Gly2272=)
c.6786G>A (p.Gly2262=)
c.6723G>A (p.Gly2241=)
c.5721G>A (p.Gly1907=)
c.169G>A
c.6922G>A (n.6922G>A)
c.64+226G>A
n.200G>A
c.6777G>A (p.Gly2259=)
c.6753G>A (p.Gly2251=)
c.6813G>A (p.Gly2271=)
 ClinVar dbSNP gnomAD v4
17g.31338106G>CCA499234300NF1c.6768G>C (p.Gly2256=)
c.1350G>C (p.Gly450=)
n.2044G>C
c.942G>C (p.Gly314=)
n.3431G>C
c.6816G>C (p.Gly2272=)
c.6786G>C (p.Gly2262=)
c.6723G>C (p.Gly2241=)
c.5721G>C (p.Gly1907=)
c.169G>C
c.6922G>C (n.6922G>C)
c.64+226G>C
n.200G>C
c.6777G>C (p.Gly2259=)
c.6753G>C (p.Gly2251=)
c.6813G>C (p.Gly2271=)
 dbSNP
17g.31338106G=CA2255602865NF1c.6768G= (p.Gly2256=)
c.1350G= (p.Gly450=)
n.2044G=
c.942G= (p.Gly314=)
n.3431G=
c.6816G= (p.Gly2272=)
c.6786G= (p.Gly2262=)
c.6723G= (p.Gly2241=)
c.5721G= (p.Gly1907=)
c.169G=
c.6922G= (n.6922G=)
c.64+226G=
n.200G=
c.6777G= (p.Gly2259=)
c.6753G= (p.Gly2251=)
c.6813G= (p.Gly2271=)
17g.31338106G>TCA499234301NF1c.6768G>T (p.Gly2256=)
c.1350G>T (p.Gly450=)
n.2044G>T
c.942G>T (p.Gly314=)
n.3431G>T
c.6816G>T (p.Gly2272=)
c.6786G>T (p.Gly2262=)
c.6723G>T (p.Gly2241=)
c.5721G>T (p.Gly1907=)
c.169G>T
c.6922G>T (n.6922G>T)
c.64+226G>T
n.200G>T
c.6777G>T (p.Gly2259=)
c.6753G>T (p.Gly2251=)
c.6813G>T (p.Gly2271=)
 dbSNP
17g.31338107C>ACA399014152NF1c.6769C>A (p.Gln2257Lys)
c.1351C>A (p.Gln451Lys)
n.2045C>A
c.943C>A (p.Gln315Lys)
n.3432C>A
c.6817C>A (p.Gln2273Lys)
c.6787C>A (p.Gln2263Lys)
c.6724C>A (p.Gln2242Lys)
c.5722C>A (p.Gln1908Lys)
c.170C>A
c.6923C>A (n.6923C>A)
c.64+227C>A
n.201C>A
c.6778C>A (p.Gln2260Lys)
c.6754C>A (p.Gln2252Lys)
c.6814C>A (p.Gln2272Lys)
 ClinVar dbSNP
17g.31338107C=CA2255602866NF1c.6769C= (p.Gln2257=)
c.1351C= (p.Gln451=)
n.2045C=
c.943C= (p.Gln315=)
n.3432C=
c.6817C= (p.Gln2273=)
c.6787C= (p.Gln2263=)
c.6724C= (p.Gln2242=)
c.5722C= (p.Gln1908=)
c.170C=
c.6923C= (n.6923C=)
c.64+227C=
n.201C=
c.6778C= (p.Gln2260=)
c.6754C= (p.Gln2252=)
c.6814C= (p.Gln2272=)
17g.31338107C>GCA399014153NF1c.6769C>G (p.Gln2257Glu)
c.1351C>G (p.Gln451Glu)
n.2045C>G
c.943C>G (p.Gln315Glu)
n.3432C>G
c.6817C>G (p.Gln2273Glu)
c.6787C>G (p.Gln2263Glu)
c.6724C>G (p.Gln2242Glu)
c.5722C>G (p.Gln1908Glu)
c.170C>G
c.6923C>G (n.6923C>G)
c.64+227C>G
n.201C>G
c.6778C>G (p.Gln2260Glu)
c.6754C>G (p.Gln2252Glu)
c.6814C>G (p.Gln2272Glu)
 dbSNP
17g.31338107C>TCA399014154NF1c.6769C>T (p.Gln2257Ter)
c.1351C>T (p.Gln451Ter)
n.2045C>T
c.943C>T (p.Gln315Ter)
n.3432C>T
c.6817C>T (p.Gln2273Ter)
c.6787C>T (p.Gln2263Ter)
c.6724C>T (p.Gln2242Ter)
c.5722C>T (p.Gln1908Ter)
c.170C>T
c.6923C>T (n.6923C>T)
c.64+227C>T
n.201C>T
c.6778C>T (p.Gln2260Ter)
c.6754C>T (p.Gln2252Ter)
c.6814C>T (p.Gln2272Ter)
 ClinVar dbSNP
17g.31338108A>CCA399014155NF1c.6770A>C (p.Gln2257Pro)
c.1352A>C (p.Gln451Pro)
n.2046A>C
c.944A>C (p.Gln315Pro)
n.3433A>C
c.6818A>C (p.Gln2273Pro)
c.6788A>C (p.Gln2263Pro)
c.6725A>C (p.Gln2242Pro)
c.5723A>C (p.Gln1908Pro)
c.171A>C
c.6924A>C (n.6924A>C)
c.64+228A>C
n.202A>C
c.6779A>C (p.Gln2260Pro)
c.6755A>C (p.Gln2252Pro)
c.6815A>C (p.Gln2272Pro)
17g.31338108A>GCA399014156NF1c.6770A>G (p.Gln2257Arg)
c.1352A>G (p.Gln451Arg)
n.2046A>G
c.944A>G (p.Gln315Arg)
n.3433A>G
c.6818A>G (p.Gln2273Arg)
c.6788A>G (p.Gln2263Arg)
c.6725A>G (p.Gln2242Arg)
c.5723A>G (p.Gln1908Arg)
c.171A>G
c.6924A>G (n.6924A>G)
c.64+228A>G
n.202A>G
c.6779A>G (p.Gln2260Arg)
c.6755A>G (p.Gln2252Arg)
c.6815A>G (p.Gln2272Arg)
17g.31338108A>TCA399014157NF1c.6770A>T (p.Gln2257Leu)
c.1352A>T (p.Gln451Leu)
n.2046A>T
c.944A>T (p.Gln315Leu)
n.3433A>T
c.6818A>T (p.Gln2273Leu)
c.6788A>T (p.Gln2263Leu)
c.6725A>T (p.Gln2242Leu)
c.5723A>T (p.Gln1908Leu)
c.171A>T
c.6924A>T (n.6924A>T)
c.64+228A>T
n.202A>T
c.6779A>T (p.Gln2260Leu)
c.6755A>T (p.Gln2252Leu)
c.6815A>T (p.Gln2272Leu)
17g.31338109delCA2831039593NF1c.6771del (p.Ile2258Ter)
c.1353del (p.Ile452Ter)
n.2047del
c.945del (p.Ile316Ter)
n.3434del
c.6819del (p.Ile2274Ter)
c.6789del (p.Ile2264Ter)
c.6726del (p.Ile2243Ter)
c.5724del (p.Ile1909Ter)
c.172del
c.6925del (n.6925del)
c.64+229del
n.203del
c.6780del (p.Ile2261Ter)
c.6756del (p.Ile2253Ter)
c.6816del (p.Ile2273Ter)
17g.31338109G>ACA499234302NF1c.6771G>A (p.Gln2257=)
c.1353G>A (p.Gln451=)
n.2047G>A
c.945G>A (p.Gln315=)
n.3434G>A
c.6819G>A (p.Gln2273=)
c.6789G>A (p.Gln2263=)
c.6726G>A (p.Gln2242=)
c.5724G>A (p.Gln1908=)
c.172G>A
c.6925G>A (n.6925G>A)
c.64+229G>A
n.203G>A
c.6780G>A (p.Gln2260=)
c.6756G>A (p.Gln2252=)
c.6816G>A (p.Gln2272=)
 ClinVar dbSNP
17g.31338109G>CCA399014158NF1c.6771G>C (p.Gln2257His)
c.1353G>C (p.Gln451His)
n.2047G>C
c.945G>C (p.Gln315His)
n.3434G>C
c.6819G>C (p.Gln2273His)
c.6789G>C (p.Gln2263His)
c.6726G>C (p.Gln2242His)
c.5724G>C (p.Gln1908His)
c.172G>C
c.6925G>C (n.6925G>C)
c.64+229G>C
n.203G>C
c.6780G>C (p.Gln2260His)
c.6756G>C (p.Gln2252His)
c.6816G>C (p.Gln2272His)
 dbSNP
17g.31338109G>TCA399014159NF1c.6771G>T (p.Gln2257His)
c.1353G>T (p.Gln451His)
n.2047G>T
c.945G>T (p.Gln315His)
n.3434G>T
c.6819G>T (p.Gln2273His)
c.6789G>T (p.Gln2263His)
c.6726G>T (p.Gln2242His)
c.5724G>T (p.Gln1908His)
c.172G>T
c.6925G>T (n.6925G>T)
c.64+229G>T
n.203G>T
c.6780G>T (p.Gln2260His)
c.6756G>T (p.Gln2252His)
c.6816G>T (p.Gln2272His)
 dbSNP
17g.31338110A=CA2255602867NF1c.6772A= (p.Ile2258=)
c.1354A= (p.Ile452=)
n.2048A=
c.946A= (p.Ile316=)
n.3435A=
c.6820A= (p.Ile2274=)
c.6790A= (p.Ile2264=)
c.6727A= (p.Ile2243=)
c.5725A= (p.Ile1909=)
c.173A=
c.6926A= (n.6926A=)
c.64+230A=
n.204A=
c.6781A= (p.Ile2261=)
c.6757A= (p.Ile2253=)
c.6817A= (p.Ile2273=)
17g.31338110A>CCA399014160NF1c.6772A>C (p.Ile2258Leu)
c.1354A>C (p.Ile452Leu)
n.2048A>C
c.946A>C (p.Ile316Leu)
n.3435A>C
c.6820A>C (p.Ile2274Leu)
c.6790A>C (p.Ile2264Leu)
c.6727A>C (p.Ile2243Leu)
c.5725A>C (p.Ile1909Leu)
c.173A>C
c.6926A>C (n.6926A>C)
c.64+230A>C
n.204A>C
c.6781A>C (p.Ile2261Leu)
c.6757A>C (p.Ile2253Leu)
c.6817A>C (p.Ile2273Leu)
17g.31338110A>GCA399014161NF1c.6772A>G (p.Ile2258Val)
c.1354A>G (p.Ile452Val)
n.2048A>G
c.946A>G (p.Ile316Val)
n.3435A>G
c.6820A>G (p.Ile2274Val)
c.6790A>G (p.Ile2264Val)
c.6727A>G (p.Ile2243Val)
c.5725A>G (p.Ile1909Val)
c.173A>G
c.6926A>G (n.6926A>G)
c.64+230A>G
n.204A>G
c.6781A>G (p.Ile2261Val)
c.6757A>G (p.Ile2253Val)
c.6817A>G (p.Ile2273Val)
 ClinVar dbSNP gnomAD v4
17g.31338110A>TCA8487426NF1c.6772A>T (p.Ile2258Leu)
c.1354A>T (p.Ile452Leu)
n.2048A>T
c.946A>T (p.Ile316Leu)
n.3435A>T
c.6820A>T (p.Ile2274Leu)
c.6790A>T (p.Ile2264Leu)
c.6727A>T (p.Ile2243Leu)
c.5725A>T (p.Ile1909Leu)
c.173A>T
c.6926A>T (n.6926A>T)
c.64+230A>T
n.204A>T
c.6781A>T (p.Ile2261Leu)
c.6757A>T (p.Ile2253Leu)
c.6817A>T (p.Ile2273Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338111T>ACA399014162NF1c.6773T>A (p.Ile2258Lys)
c.1355T>A (p.Ile452Lys)
n.2049T>A
c.947T>A (p.Ile316Lys)
n.3436T>A
c.6821T>A (p.Ile2274Lys)
c.6791T>A (p.Ile2264Lys)
c.6728T>A (p.Ile2243Lys)
c.5726T>A (p.Ile1909Lys)
c.174T>A
c.6927T>A (n.6927T>A)
c.64+231T>A
n.205T>A
c.6782T>A (p.Ile2261Lys)
c.6758T>A (p.Ile2253Lys)
c.6818T>A (p.Ile2273Lys)
 ClinVar dbSNP
17g.31338111T>CCA399014164NF1c.6773T>C (p.Ile2258Thr)
c.1355T>C (p.Ile452Thr)
n.2049T>C
c.947T>C (p.Ile316Thr)
n.3436T>C
c.6821T>C (p.Ile2274Thr)
c.6791T>C (p.Ile2264Thr)
c.6728T>C (p.Ile2243Thr)
c.5726T>C (p.Ile1909Thr)
c.174T>C
c.6927T>C (n.6927T>C)
c.64+231T>C
n.205T>C
c.6782T>C (p.Ile2261Thr)
c.6758T>C (p.Ile2253Thr)
c.6818T>C (p.Ile2273Thr)
17g.31338111T>GCA399014163NF1c.6773T>G (p.Ile2258Arg)
c.1355T>G (p.Ile452Arg)
n.2049T>G
c.947T>G (p.Ile316Arg)
n.3436T>G
c.6821T>G (p.Ile2274Arg)
c.6791T>G (p.Ile2264Arg)
c.6728T>G (p.Ile2243Arg)
c.5726T>G (p.Ile1909Arg)
c.174T>G
c.6927T>G (n.6927T>G)
c.64+231T>G
n.205T>G
c.6782T>G (p.Ile2261Arg)
c.6758T>G (p.Ile2253Arg)
c.6818T>G (p.Ile2273Arg)
 dbSNP
17g.31338111_31338112delinsTACA2255602868NF1c.6773_6774delinsTA (p.Ile2258=)
c.1355_1356delinsTA (p.Ile452=)
n.2049_2050delinsTA
c.947_948delinsTA (p.Ile316=)
n.3436_3437delinsTA
c.6821_6822delinsTA (p.Ile2274=)
c.6791_6792delinsTA (p.Ile2264=)
c.6728_6729delinsTA (p.Ile2243=)
c.5726_5727delinsTA (p.Ile1909=)
c.174_175delinsTA
c.6927_6928delinsTA (n.6927_6928delinsTA)
c.64+231_64+232delinsTA
n.205_206delinsTA
c.6782_6783delinsTA (p.Ile2261=)
c.6758_6759delinsTA (p.Ile2253=)
c.6818_6819delinsTA (p.Ile2273=)
17g.31338112A>CCA499234303NF1c.6774A>C (p.Ile2258=)
c.1356A>C (p.Ile452=)
n.2050A>C
c.948A>C (p.Ile316=)
n.3437A>C
c.6822A>C (p.Ile2274=)
c.6792A>C (p.Ile2264=)
c.6729A>C (p.Ile2243=)
c.5727A>C (p.Ile1909=)
c.175A>C
c.6928A>C (n.6928A>C)
c.64+232A>C
n.206A>C
c.6783A>C (p.Ile2261=)
c.6759A>C (p.Ile2253=)
c.6819A>C (p.Ile2273=)
17g.31338112A>GCA399014165NF1c.6774A>G (p.Ile2258Met)
c.1356A>G (p.Ile452Met)
n.2050A>G
c.948A>G (p.Ile316Met)
n.3437A>G
c.6822A>G (p.Ile2274Met)
c.6792A>G (p.Ile2264Met)
c.6729A>G (p.Ile2243Met)
c.5727A>G (p.Ile1909Met)
c.175A>G
c.6928A>G (n.6928A>G)
c.64+232A>G
n.206A>G
c.6783A>G (p.Ile2261Met)
c.6759A>G (p.Ile2253Met)
c.6819A>G (p.Ile2273Met)
 ClinVar
17g.31338112A>TCA499234304NF1c.6774A>T (p.Ile2258=)
c.1356A>T (p.Ile452=)
n.2050A>T
c.948A>T (p.Ile316=)
n.3437A>T
c.6822A>T (p.Ile2274=)
c.6792A>T (p.Ile2264=)
c.6729A>T (p.Ile2243=)
c.5727A>T (p.Ile1909=)
c.175A>T
c.6928A>T (n.6928A>T)
c.64+232A>T
n.206A>T
c.6783A>T (p.Ile2261=)
c.6759A>T (p.Ile2253=)
c.6819A>T (p.Ile2273=)
 dbSNP
17g.31338114delCA915949960NF1c.6776del (p.Lys2259SerfsTer3)
c.1358del (p.Lys453SerfsTer3)
n.2052del
c.950del (p.Lys317SerfsTer3)
n.3439del
c.6824del (p.Lys2275SerfsTer3)
c.6794del (p.Lys2265SerfsTer3)
c.6731del (p.Lys2244SerfsTer3)
c.5729del (p.Lys1910SerfsTer3)
c.177del
c.6930del (n.6930del)
c.64+234del
n.208del
c.6785del (p.Lys2262SerfsTer3)
c.6761del (p.Lys2254SerfsTer3)
c.6821del (p.Lys2274SerfsTer3)
 ClinVar dbSNP
17g.31338113_31338117delCA658760989NF1c.6775_6779del (p.Lys2259AspfsTer6)
c.1357_1361del (p.Lys453AspfsTer6)
n.2051_2055del
c.949_953del (p.Lys317AspfsTer6)
n.3438_3442del
c.6823_6827del (p.Lys2275AspfsTer6)
c.6793_6797del (p.Lys2265AspfsTer6)
c.6730_6734del (p.Lys2244AspfsTer6)
c.5728_5732del (p.Lys1910AspfsTer6)
c.176_180del
c.6929_6933del (n.6929_6933del)
c.64+233_64+237del
n.207_211del
c.6784_6788del (p.Lys2262AspfsTer6)
c.6760_6764del (p.Lys2254AspfsTer6)
c.6820_6824del (p.Lys2274AspfsTer6)
17g.31338113A>CCA399014166NF1c.6775A>C (p.Lys2259Gln)
c.1357A>C (p.Lys453Gln)
n.2051A>C
c.949A>C (p.Lys317Gln)
n.3438A>C
c.6823A>C (p.Lys2275Gln)
c.6793A>C (p.Lys2265Gln)
c.6730A>C (p.Lys2244Gln)
c.5728A>C (p.Lys1910Gln)
c.176A>C
c.6929A>C (n.6929A>C)
c.64+233A>C
n.207A>C
c.6784A>C (p.Lys2262Gln)
c.6760A>C (p.Lys2254Gln)
c.6820A>C (p.Lys2274Gln)
17g.31338113A>GCA399014167NF1c.6775A>G (p.Lys2259Glu)
c.1357A>G (p.Lys453Glu)
n.2051A>G
c.949A>G (p.Lys317Glu)
n.3438A>G
c.6823A>G (p.Lys2275Glu)
c.6793A>G (p.Lys2265Glu)
c.6730A>G (p.Lys2244Glu)
c.5728A>G (p.Lys1910Glu)
c.176A>G
c.6929A>G (n.6929A>G)
c.64+233A>G
n.207A>G
c.6784A>G (p.Lys2262Glu)
c.6760A>G (p.Lys2254Glu)
c.6820A>G (p.Lys2274Glu)
 ClinVar
17g.31338113A>TCA399014168NF1c.6775A>T (p.Lys2259Ter)
c.1357A>T (p.Lys453Ter)
n.2051A>T
c.949A>T (p.Lys317Ter)
n.3438A>T
c.6823A>T (p.Lys2275Ter)
c.6793A>T (p.Lys2265Ter)
c.6730A>T (p.Lys2244Ter)
c.5728A>T (p.Lys1910Ter)
c.176A>T
c.6929A>T (n.6929A>T)
c.64+233A>T
n.207A>T
c.6784A>T (p.Lys2262Ter)
c.6760A>T (p.Lys2254Ter)
c.6820A>T (p.Lys2274Ter)
17g.31338114A=CA2255602869NF1c.6776A= (p.Lys2259=)
c.1358A= (p.Lys453=)
n.2052A=
c.950A= (p.Lys317=)
n.3439A=
c.6824A= (p.Lys2275=)
c.6794A= (p.Lys2265=)
c.6731A= (p.Lys2244=)
c.5729A= (p.Lys1910=)
c.177A=
c.6930A= (n.6930A=)
c.64+234A=
n.208A=
c.6785A= (p.Lys2262=)
c.6761A= (p.Lys2254=)
c.6821A= (p.Lys2274=)
17g.31338114A>CCA399014169NF1c.6776A>C (p.Lys2259Thr)
c.1358A>C (p.Lys453Thr)
n.2052A>C
c.950A>C (p.Lys317Thr)
n.3439A>C
c.6824A>C (p.Lys2275Thr)
c.6794A>C (p.Lys2265Thr)
c.6731A>C (p.Lys2244Thr)
c.5729A>C (p.Lys1910Thr)
c.177A>C
c.6930A>C (n.6930A>C)
c.64+234A>C
n.208A>C
c.6785A>C (p.Lys2262Thr)
c.6761A>C (p.Lys2254Thr)
c.6821A>C (p.Lys2274Thr)
17g.31338114A>GCA399014170NF1c.6776A>G (p.Lys2259Arg)
c.1358A>G (p.Lys453Arg)
n.2052A>G
c.950A>G (p.Lys317Arg)
n.3439A>G
c.6824A>G (p.Lys2275Arg)
c.6794A>G (p.Lys2265Arg)
c.6731A>G (p.Lys2244Arg)
c.5729A>G (p.Lys1910Arg)
c.177A>G
c.6930A>G (n.6930A>G)
c.64+234A>G
n.208A>G
c.6785A>G (p.Lys2262Arg)
c.6761A>G (p.Lys2254Arg)
c.6821A>G (p.Lys2274Arg)
 ClinVar dbSNP
17g.31338114A>TCA16615672NF1c.6776A>T (p.Lys2259Met)
c.1358A>T (p.Lys453Met)
n.2052A>T
c.950A>T (p.Lys317Met)
n.3439A>T
c.6824A>T (p.Lys2275Met)
c.6794A>T (p.Lys2265Met)
c.6731A>T (p.Lys2244Met)
c.5729A>T (p.Lys1910Met)
c.177A>T
c.6930A>T (n.6930A>T)
c.64+234A>T
n.208A>T
c.6785A>T (p.Lys2262Met)
c.6761A>T (p.Lys2254Met)
c.6821A>T (p.Lys2274Met)
 ClinVar dbSNP
17g.31338115G>ACA499234305NF1c.6777G>A (p.Lys2259=)
c.1359G>A (p.Lys453=)
n.2053G>A
c.951G>A (p.Lys317=)
n.3440G>A
c.6825G>A (p.Lys2275=)
c.6795G>A (p.Lys2265=)
c.6732G>A (p.Lys2244=)
c.5730G>A (p.Lys1910=)
c.178G>A
c.6931G>A (n.6931G>A)
c.64+235G>A
n.209G>A
c.6786G>A (p.Lys2262=)
c.6762G>A (p.Lys2254=)
c.6822G>A (p.Lys2274=)
 ClinVar dbSNP
17g.31338115G>CCA399014171NF1c.6777G>C (p.Lys2259Asn)
c.1359G>C (p.Lys453Asn)
n.2053G>C
c.951G>C (p.Lys317Asn)
n.3440G>C
c.6825G>C (p.Lys2275Asn)
c.6795G>C (p.Lys2265Asn)
c.6732G>C (p.Lys2244Asn)
c.5730G>C (p.Lys1910Asn)
c.178G>C
c.6931G>C (n.6931G>C)
c.64+235G>C
n.209G>C
c.6786G>C (p.Lys2262Asn)
c.6762G>C (p.Lys2254Asn)
c.6822G>C (p.Lys2274Asn)
 dbSNP
17g.31338115G=CA2255602870NF1c.6777G= (p.Lys2259=)
c.1359G= (p.Lys453=)
n.2053G=
c.951G= (p.Lys317=)
n.3440G=
c.6825G= (p.Lys2275=)
c.6795G= (p.Lys2265=)
c.6732G= (p.Lys2244=)
c.5730G= (p.Lys1910=)
c.178G=
c.6931G= (n.6931G=)
c.64+235G=
n.209G=
c.6786G= (p.Lys2262=)
c.6762G= (p.Lys2254=)
c.6822G= (p.Lys2274=)
17g.31338115G>TCA399014172NF1c.6777G>T (p.Lys2259Asn)
c.1359G>T (p.Lys453Asn)
n.2053G>T
c.951G>T (p.Lys317Asn)
n.3440G>T
c.6825G>T (p.Lys2275Asn)
c.6795G>T (p.Lys2265Asn)
c.6732G>T (p.Lys2244Asn)
c.5730G>T (p.Lys1910Asn)
c.178G>T
c.6931G>T (n.6931G>T)
c.64+235G>T
n.209G>T
c.6786G>T (p.Lys2262Asn)
c.6762G>T (p.Lys2254Asn)
c.6822G>T (p.Lys2274Asn)
17g.31338116C>ACA399014173NF1c.6778C>A (p.Gln2260Lys)
c.1360C>A (p.Gln454Lys)
n.2054C>A
c.952C>A (p.Gln318Lys)
n.3441C>A
c.6826C>A (p.Gln2276Lys)
c.6796C>A (p.Gln2266Lys)
c.6733C>A (p.Gln2245Lys)
c.5731C>A (p.Gln1911Lys)
c.179C>A
c.6932C>A (n.6932C>A)
c.64+236C>A
n.210C>A
c.6787C>A (p.Gln2263Lys)
c.6763C>A (p.Gln2255Lys)
c.6823C>A (p.Gln2275Lys)
17g.31338116C=CA2255602871NF1c.6778C= (p.Gln2260=)
c.1360C= (p.Gln454=)
n.2054C=
c.952C= (p.Gln318=)
n.3441C=
c.6826C= (p.Gln2276=)
c.6796C= (p.Gln2266=)
c.6733C= (p.Gln2245=)
c.5731C= (p.Gln1911=)
c.179C=
c.6932C= (n.6932C=)
c.64+236C=
n.210C=
c.6787C= (p.Gln2263=)
c.6763C= (p.Gln2255=)
c.6823C= (p.Gln2275=)
17g.31338116C>GCA399014174NF1c.6778C>G (p.Gln2260Glu)
c.1360C>G (p.Gln454Glu)
n.2054C>G
c.952C>G (p.Gln318Glu)
n.3441C>G
c.6826C>G (p.Gln2276Glu)
c.6796C>G (p.Gln2266Glu)
c.6733C>G (p.Gln2245Glu)
c.5731C>G (p.Gln1911Glu)
c.179C>G
c.6932C>G (n.6932C>G)
c.64+236C>G
n.210C>G
c.6787C>G (p.Gln2263Glu)
c.6763C>G (p.Gln2255Glu)
c.6823C>G (p.Gln2275Glu)
 dbSNP
17g.31338116C>TCA399014175NF1c.6778C>T (p.Gln2260Ter)
c.1360C>T (p.Gln454Ter)
n.2054C>T
c.952C>T (p.Gln318Ter)
n.3441C>T
c.6826C>T (p.Gln2276Ter)
c.6796C>T (p.Gln2266Ter)
c.6733C>T (p.Gln2245Ter)
c.5731C>T (p.Gln1911Ter)
c.179C>T
c.6932C>T (n.6932C>T)
c.64+236C>T
n.210C>T
c.6787C>T (p.Gln2263Ter)
c.6763C>T (p.Gln2255Ter)
c.6823C>T (p.Gln2275Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31338117A>CCA399014178NF1c.6779A>C (p.Gln2260Pro)
c.1361A>C (p.Gln454Pro)
n.2055A>C
c.953A>C (p.Gln318Pro)
n.3442A>C
c.6827A>C (p.Gln2276Pro)
c.6797A>C (p.Gln2266Pro)
c.6734A>C (p.Gln2245Pro)
c.5732A>C (p.Gln1911Pro)
c.180A>C
c.6933A>C (n.6933A>C)
c.64+237A>C
n.211A>C
c.6788A>C (p.Gln2263Pro)
c.6764A>C (p.Gln2255Pro)
c.6824A>C (p.Gln2275Pro)
17g.31338117A>GCA399014176NF1c.6779A>G (p.Gln2260Arg)
c.1361A>G (p.Gln454Arg)
n.2055A>G
c.953A>G (p.Gln318Arg)
n.3442A>G
c.6827A>G (p.Gln2276Arg)
c.6797A>G (p.Gln2266Arg)
c.6734A>G (p.Gln2245Arg)
c.5732A>G (p.Gln1911Arg)
c.180A>G
c.6933A>G (n.6933A>G)
c.64+237A>G
n.211A>G
c.6788A>G (p.Gln2263Arg)
c.6764A>G (p.Gln2255Arg)
c.6824A>G (p.Gln2275Arg)
 gnomAD v4
17g.31338117A>TCA399014177NF1c.6779A>T (p.Gln2260Leu)
c.1361A>T (p.Gln454Leu)
n.2055A>T
c.953A>T (p.Gln318Leu)
n.3442A>T
c.6827A>T (p.Gln2276Leu)
c.6797A>T (p.Gln2266Leu)
c.6734A>T (p.Gln2245Leu)
c.5732A>T (p.Gln1911Leu)
c.180A>T
c.6933A>T (n.6933A>T)
c.64+237A>T
n.211A>T
c.6788A>T (p.Gln2263Leu)
c.6764A>T (p.Gln2255Leu)
c.6824A>T (p.Gln2275Leu)
17g.31338117_31338118delinsAGCA2255602872NF1c.6779_6780delinsAG (p.Gln2260=)
c.1361_1362delinsAG (p.Gln454=)
n.2055_2056delinsAG
c.953_954delinsAG (p.Gln318=)
n.3442_3443delinsAG
c.6827_6828delinsAG (p.Gln2276=)
c.6797_6798delinsAG (p.Gln2266=)
c.6734_6735delinsAG (p.Gln2245=)
c.5732_5733delinsAG (p.Gln1911=)
c.180_181delinsAG
c.6933_6934delinsAG (n.6933_6934delinsAG)
c.64+237_64+238delinsAG
n.211_212delinsAG
c.6788_6789delinsAG (p.Gln2263=)
c.6764_6765delinsAG (p.Gln2255=)
c.6824_6825delinsAG (p.Gln2275=)
17g.31338118delCA1139665457NF1c.6780del (p.Ile2261Ter)
c.1362del (p.Ile455Ter)
n.2056del
c.954del (p.Ile319Ter)
n.3443del
c.6828del (p.Ile2277Ter)
c.6798del (p.Ile2267Ter)
c.6735del (p.Ile2246Ter)
c.5733del (p.Ile1912Ter)
c.181del
c.6934del (n.6934del)
c.64+238del
n.212del
c.6789del (p.Ile2264Ter)
c.6765del (p.Ile2256Ter)
c.6825del (p.Ile2276Ter)
 ClinVar dbSNP
17g.31338118G>ACA499234306NF1c.6780G>A (p.Gln2260=)
c.1362G>A (p.Gln454=)
n.2056G>A
c.954G>A (p.Gln318=)
n.3443G>A
c.6828G>A (p.Gln2276=)
c.6798G>A (p.Gln2266=)
c.6735G>A (p.Gln2245=)
c.5733G>A (p.Gln1911=)
c.181G>A
c.6934G>A (n.6934G>A)
c.64+238G>A
n.212G>A
c.6789G>A (p.Gln2263=)
c.6765G>A (p.Gln2255=)
c.6825G>A (p.Gln2275=)
 dbSNP
17g.31338118G>CCA399014179NF1c.6780G>C (p.Gln2260His)
c.1362G>C (p.Gln454His)
n.2056G>C
c.954G>C (p.Gln318His)
n.3443G>C
c.6828G>C (p.Gln2276His)
c.6798G>C (p.Gln2266His)
c.6735G>C (p.Gln2245His)
c.5733G>C (p.Gln1911His)
c.181G>C
c.6934G>C (n.6934G>C)
c.64+238G>C
n.212G>C
c.6789G>C (p.Gln2263His)
c.6765G>C (p.Gln2255His)
c.6825G>C (p.Gln2275His)
 dbSNP gnomAD v4 COSMIC COSMIC
17g.31338118G>TCA399014180NF1c.6780G>T (p.Gln2260His)
c.1362G>T (p.Gln454His)
n.2056G>T
c.954G>T (p.Gln318His)
n.3443G>T
c.6828G>T (p.Gln2276His)
c.6798G>T (p.Gln2266His)
c.6735G>T (p.Gln2245His)
c.5733G>T (p.Gln1911His)
c.181G>T
c.6934G>T (n.6934G>T)
c.64+238G>T
n.212G>T
c.6789G>T (p.Gln2263His)
c.6765G>T (p.Gln2255His)
c.6825G>T (p.Gln2275His)
 ClinVar
17g.31338119A>CCA399014181NF1c.6781A>C (p.Ile2261Leu)
c.1363A>C (p.Ile455Leu)
n.2057A>C
c.955A>C (p.Ile319Leu)
n.3444A>C
c.6829A>C (p.Ile2277Leu)
c.6799A>C (p.Ile2267Leu)
c.6736A>C (p.Ile2246Leu)
c.5734A>C (p.Ile1912Leu)
c.182A>C
c.6935A>C (n.6935A>C)
c.64+239A>C
n.213A>C
c.6790A>C (p.Ile2264Leu)
c.6766A>C (p.Ile2256Leu)
c.6826A>C (p.Ile2276Leu)
17g.31338119A>GCA399014182NF1c.6781A>G (p.Ile2261Val)
c.1363A>G (p.Ile455Val)
n.2057A>G
c.955A>G (p.Ile319Val)
n.3444A>G
c.6829A>G (p.Ile2277Val)
c.6799A>G (p.Ile2267Val)
c.6736A>G (p.Ile2246Val)
c.5734A>G (p.Ile1912Val)
c.182A>G
c.6935A>G (n.6935A>G)
c.64+239A>G
n.213A>G
c.6790A>G (p.Ile2264Val)
c.6766A>G (p.Ile2256Val)
c.6826A>G (p.Ile2276Val)
 ClinVar
17g.31338119A>TCA399014183NF1c.6781A>T (p.Ile2261Leu)
c.1363A>T (p.Ile455Leu)
n.2057A>T
c.955A>T (p.Ile319Leu)
n.3444A>T
c.6829A>T (p.Ile2277Leu)
c.6799A>T (p.Ile2267Leu)
c.6736A>T (p.Ile2246Leu)
c.5734A>T (p.Ile1912Leu)
c.182A>T
c.6935A>T (n.6935A>T)
c.64+239A>T
n.213A>T
c.6790A>T (p.Ile2264Leu)
c.6766A>T (p.Ile2256Leu)
c.6826A>T (p.Ile2276Leu)
17g.31338120delCA2733616358NF1c.6782del (p.Ile2261LysfsTer13)
c.1364del (p.Ile455LysfsTer13)
n.2058del
c.956del (p.Ile319LysfsTer13)
n.3445del
c.6830del (p.Ile2277LysfsTer13)
c.6800del (p.Ile2267LysfsTer13)
c.6737del (p.Ile2246LysfsTer13)
c.5735del (p.Ile1912LysfsTer13)
c.183del
c.6936del (n.6936del)
c.64+240del
n.214del
c.6791del (p.Ile2264LysfsTer13)
c.6767del (p.Ile2256LysfsTer13)
c.6827del (p.Ile2276LysfsTer13)
 dbSNP
17g.31338120T>ACA399014184NF1c.6782T>A (p.Ile2261Lys)
c.1364T>A (p.Ile455Lys)
n.2058T>A
c.956T>A (p.Ile319Lys)
n.3445T>A
c.6830T>A (p.Ile2277Lys)
c.6800T>A (p.Ile2267Lys)
c.6737T>A (p.Ile2246Lys)
c.5735T>A (p.Ile1912Lys)
c.183T>A
c.6936T>A (n.6936T>A)
c.64+240T>A
n.214T>A
c.6791T>A (p.Ile2264Lys)
c.6767T>A (p.Ile2256Lys)
c.6827T>A (p.Ile2276Lys)
 dbSNP
17g.31338120T>CCA399014185NF1c.6782T>C (p.Ile2261Thr)
c.1364T>C (p.Ile455Thr)
n.2058T>C
c.956T>C (p.Ile319Thr)
n.3445T>C
c.6830T>C (p.Ile2277Thr)
c.6800T>C (p.Ile2267Thr)
c.6737T>C (p.Ile2246Thr)
c.5735T>C (p.Ile1912Thr)
c.183T>C
c.6936T>C (n.6936T>C)
c.64+240T>C
n.214T>C
c.6791T>C (p.Ile2264Thr)
c.6767T>C (p.Ile2256Thr)
c.6827T>C (p.Ile2276Thr)
 ClinVar dbSNP
17g.31338120T>GCA399014186NF1c.6782T>G (p.Ile2261Arg)
c.1364T>G (p.Ile455Arg)
n.2058T>G
c.956T>G (p.Ile319Arg)
n.3445T>G
c.6830T>G (p.Ile2277Arg)
c.6800T>G (p.Ile2267Arg)
c.6737T>G (p.Ile2246Arg)
c.5735T>G (p.Ile1912Arg)
c.183T>G
c.6936T>G (n.6936T>G)
c.64+240T>G
n.214T>G
c.6791T>G (p.Ile2264Arg)
c.6767T>G (p.Ile2256Arg)
c.6827T>G (p.Ile2276Arg)
 dbSNP
17g.31338120T=CA2255602873NF1c.6782T= (p.Ile2261=)
c.1364T= (p.Ile455=)
n.2058T=
c.956T= (p.Ile319=)
n.3445T=
c.6830T= (p.Ile2277=)
c.6800T= (p.Ile2267=)
c.6737T= (p.Ile2246=)
c.5735T= (p.Ile1912=)
c.183T=
c.6936T= (n.6936T=)
c.64+240T=
n.214T=
c.6791T= (p.Ile2264=)
c.6767T= (p.Ile2256=)
c.6827T= (p.Ile2276=)
17g.31338120_31338121delinsTACA2255602874NF1c.6782_6783delinsTA (p.Ile2261=)
c.1364_1365delinsTA (p.Ile455=)
n.2058_2059delinsTA
c.956_957delinsTA (p.Ile319=)
n.3445_3446delinsTA
c.6830_6831delinsTA (p.Ile2277=)
c.6800_6801delinsTA (p.Ile2267=)
c.6737_6738delinsTA (p.Ile2246=)
c.5735_5736delinsTA (p.Ile1912=)
c.183_184delinsTA
c.6936_6937delinsTA (n.6936_6937delinsTA)
c.64+240_64+241delinsTA
n.214_215delinsTA
c.6791_6792delinsTA (p.Ile2264=)
c.6767_6768delinsTA (p.Ile2256=)
c.6827_6828delinsTA (p.Ile2276=)
17g.31338121A=CA2255602875NF1c.6783A= (p.Ile2261=)
c.1365A= (p.Ile455=)
n.2059A=
c.957A= (p.Ile319=)
n.3446A=
c.6831A= (p.Ile2277=)
c.6801A= (p.Ile2267=)
c.6738A= (p.Ile2246=)
c.5736A= (p.Ile1912=)
c.184A=
c.6937A= (n.6937A=)
c.64+241A=
n.215A=
c.6792A= (p.Ile2264=)
c.6768A= (p.Ile2256=)
c.6828A= (p.Ile2276=)
17g.31338121A>CCA499234308NF1c.6783A>C (p.Ile2261=)
c.1365A>C (p.Ile455=)
n.2059A>C
c.957A>C (p.Ile319=)
n.3446A>C
c.6831A>C (p.Ile2277=)
c.6801A>C (p.Ile2267=)
c.6738A>C (p.Ile2246=)
c.5736A>C (p.Ile1912=)
c.184A>C
c.6937A>C (n.6937A>C)
c.64+241A>C
n.215A>C
c.6792A>C (p.Ile2264=)
c.6768A>C (p.Ile2256=)
c.6828A>C (p.Ile2276=)
 ClinVar dbSNP gnomAD v4
17g.31338121A>GCA10580390NF1c.6783A>G (p.Ile2261Met)
c.1365A>G (p.Ile455Met)
n.2059A>G
c.957A>G (p.Ile319Met)
n.3446A>G
c.6831A>G (p.Ile2277Met)
c.6801A>G (p.Ile2267Met)
c.6738A>G (p.Ile2246Met)
c.5736A>G (p.Ile1912Met)
c.184A>G
c.6937A>G (n.6937A>G)
c.64+241A>G
n.215A>G
c.6792A>G (p.Ile2264Met)
c.6768A>G (p.Ile2256Met)
c.6828A>G (p.Ile2276Met)
 ClinVar dbSNP gnomAD v4
17g.31338121A>TCA499234307NF1c.6783A>T (p.Ile2261=)
c.1365A>T (p.Ile455=)
n.2059A>T
c.957A>T (p.Ile319=)
n.3446A>T
c.6831A>T (p.Ile2277=)
c.6801A>T (p.Ile2267=)
c.6738A>T (p.Ile2246=)
c.5736A>T (p.Ile1912=)
c.184A>T
c.6937A>T (n.6937A>T)
c.64+241A>T
n.215A>T
c.6792A>T (p.Ile2264=)
c.6768A>T (p.Ile2256=)
c.6828A>T (p.Ile2276=)
17g.31338122delCA916080687NF1c.6784del (p.Ile2262SerfsTer12)
c.1366del (p.Ile456SerfsTer12)
n.2060del
c.958del (p.Ile320SerfsTer12)
n.3447del
c.6832del (p.Ile2278SerfsTer12)
c.6802del (p.Ile2268SerfsTer12)
c.6739del (p.Ile2247SerfsTer12)
c.5737del (p.Ile1913SerfsTer12)
c.185del
c.6938del (n.6938del)
c.64+242del
n.216del
c.6793del (p.Ile2265SerfsTer12)
c.6769del (p.Ile2257SerfsTer12)
c.6829del (p.Ile2277SerfsTer12)
 ClinVar dbSNP
17g.31338122A>CCA399014187NF1c.6784A>C (p.Ile2262Leu)
c.1366A>C (p.Ile456Leu)
n.2060A>C
c.958A>C (p.Ile320Leu)
n.3447A>C
c.6832A>C (p.Ile2278Leu)
c.6802A>C (p.Ile2268Leu)
c.6739A>C (p.Ile2247Leu)
c.5737A>C (p.Ile1913Leu)
c.185A>C
c.6938A>C (n.6938A>C)
c.64+242A>C
n.216A>C
c.6793A>C (p.Ile2265Leu)
c.6769A>C (p.Ile2257Leu)
c.6829A>C (p.Ile2277Leu)
 dbSNP
17g.31338122A>GCA399014188NF1c.6784A>G (p.Ile2262Val)
c.1366A>G (p.Ile456Val)
n.2060A>G
c.958A>G (p.Ile320Val)
n.3447A>G
c.6832A>G (p.Ile2278Val)
c.6802A>G (p.Ile2268Val)
c.6739A>G (p.Ile2247Val)
c.5737A>G (p.Ile1913Val)
c.185A>G
c.6938A>G (n.6938A>G)
c.64+242A>G
n.216A>G
c.6793A>G (p.Ile2265Val)
c.6769A>G (p.Ile2257Val)
c.6829A>G (p.Ile2277Val)
17g.31338122A>TCA399014189NF1c.6784A>T (p.Ile2262Phe)
c.1366A>T (p.Ile456Phe)
n.2060A>T
c.958A>T (p.Ile320Phe)
n.3447A>T
c.6832A>T (p.Ile2278Phe)
c.6802A>T (p.Ile2268Phe)
c.6739A>T (p.Ile2247Phe)
c.5737A>T (p.Ile1913Phe)
c.185A>T
c.6938A>T (n.6938A>T)
c.64+242A>T
n.216A>T
c.6793A>T (p.Ile2265Phe)
c.6769A>T (p.Ile2257Phe)
c.6829A>T (p.Ile2277Phe)
 dbSNP
17g.31338123T>ACA399014191NF1c.6785T>A (p.Ile2262Asn)
c.1367T>A (p.Ile456Asn)
n.2061T>A
c.959T>A (p.Ile320Asn)
n.3448T>A
c.6833T>A (p.Ile2278Asn)
c.6803T>A (p.Ile2268Asn)
c.6740T>A (p.Ile2247Asn)
c.5738T>A (p.Ile1913Asn)
c.186T>A
c.6939T>A (n.6939T>A)
c.64+243T>A
n.217T>A
c.6794T>A (p.Ile2265Asn)
c.6770T>A (p.Ile2257Asn)
c.6830T>A (p.Ile2277Asn)
 dbSNP
17g.31338123T>CCA399014192NF1c.6785T>C (p.Ile2262Thr)
c.1367T>C (p.Ile456Thr)
n.2061T>C
c.959T>C (p.Ile320Thr)
n.3448T>C
c.6833T>C (p.Ile2278Thr)
c.6803T>C (p.Ile2268Thr)
c.6740T>C (p.Ile2247Thr)
c.5738T>C (p.Ile1913Thr)
c.186T>C
c.6939T>C (n.6939T>C)
c.64+243T>C
n.217T>C
c.6794T>C (p.Ile2265Thr)
c.6770T>C (p.Ile2257Thr)
c.6830T>C (p.Ile2277Thr)
 gnomAD v4
17g.31338123T>GCA399014190NF1c.6785T>G (p.Ile2262Ser)
c.1367T>G (p.Ile456Ser)
n.2061T>G
c.959T>G (p.Ile320Ser)
n.3448T>G
c.6833T>G (p.Ile2278Ser)
c.6803T>G (p.Ile2268Ser)
c.6740T>G (p.Ile2247Ser)
c.5738T>G (p.Ile1913Ser)
c.186T>G
c.6939T>G (n.6939T>G)
c.64+243T>G
n.217T>G
c.6794T>G (p.Ile2265Ser)
c.6770T>G (p.Ile2257Ser)
c.6830T>G (p.Ile2277Ser)
17g.31338123_31338124delCA2580093142NF1c.6785_6786del (p.Ile2262ThrfsTer4)
c.1367_1368del (p.Ile456ThrfsTer4)
n.2061_2062del
c.959_960del (p.Ile320ThrfsTer4)
n.3448_3449del
c.6833_6834del (p.Ile2278ThrfsTer4)
c.6803_6804del (p.Ile2268ThrfsTer4)
c.6740_6741del (p.Ile2247ThrfsTer4)
c.5738_5739del (p.Ile1913ThrfsTer4)
c.186_187del
c.6939_6940del (n.6939_6940del)
c.64+243_64+244del
n.217_218del
c.6794_6795del (p.Ile2265ThrfsTer4)
c.6770_6771del (p.Ile2257ThrfsTer4)
c.6830_6831del (p.Ile2277ThrfsTer4)
 ClinVar
17g.31338124C>ACA499234310NF1c.6786C>A (p.Ile2262=)
c.1368C>A (p.Ile456=)
n.2062C>A
c.960C>A (p.Ile320=)
n.3449C>A
c.6834C>A (p.Ile2278=)
c.6804C>A (p.Ile2268=)
c.6741C>A (p.Ile2247=)
c.5739C>A (p.Ile1913=)
c.187C>A
c.6940C>A (n.6940C>A)
c.64+244C>A
n.218C>A
c.6795C>A (p.Ile2265=)
c.6771C>A (p.Ile2257=)
c.6831C>A (p.Ile2277=)
 dbSNP
17g.31338124C>GCA399014193NF1c.6786C>G (p.Ile2262Met)
c.1368C>G (p.Ile456Met)
n.2062C>G
c.960C>G (p.Ile320Met)
n.3449C>G
c.6834C>G (p.Ile2278Met)
c.6804C>G (p.Ile2268Met)
c.6741C>G (p.Ile2247Met)
c.5739C>G (p.Ile1913Met)
c.187C>G
c.6940C>G (n.6940C>G)
c.64+244C>G
n.218C>G
c.6795C>G (p.Ile2265Met)
c.6771C>G (p.Ile2257Met)
c.6831C>G (p.Ile2277Met)
 dbSNP
17g.31338124C>TCA499234309NF1c.6786C>T (p.Ile2262=)
c.1368C>T (p.Ile456=)
n.2062C>T
c.960C>T (p.Ile320=)
n.3449C>T
c.6834C>T (p.Ile2278=)
c.6804C>T (p.Ile2268=)
c.6741C>T (p.Ile2247=)
c.5739C>T (p.Ile1913=)
c.187C>T
c.6940C>T (n.6940C>T)
c.64+244C>T
n.218C>T
c.6795C>T (p.Ile2265=)
c.6771C>T (p.Ile2257=)
c.6831C>T (p.Ile2277=)
 dbSNP COSMIC COSMIC COSMIC
17g.31338126_31338144delCA2580093143NF1c.6788_6801+5del
c.1370_1383+5del
n.2064_2082del
c.962_975+5del
n.3451_3464+5del
c.6836_6849+5del
c.6806_6819+5del
c.6743_6756+5del
c.5741_5754+5del
c.189_202+5del
c.6942_6955+5del
c.64+246_64+264del
n.220_233+5del
c.6797_6810+5del
c.6773_6786+5del
c.6833_6846+5del
 ClinVar
17g.31338125C>ACA399014194NF1c.6787C>A (p.Arg2263Ser)
c.1369C>A (p.Arg457Ser)
n.2063C>A
c.961C>A (p.Arg321Ser)
n.3450C>A
c.6835C>A (p.Arg2279Ser)
c.6805C>A (p.Arg2269Ser)
c.6742C>A (p.Arg2248Ser)
c.5740C>A (p.Arg1914Ser)
c.188C>A
c.6941C>A (n.6941C>A)
c.64+245C>A
n.219C>A
c.6796C>A (p.Arg2266Ser)
c.6772C>A (p.Arg2258Ser)
c.6832C>A (p.Arg2278Ser)
 dbSNP gnomAD v4
17g.31338125C=CA2255602876NF1c.6787C= (p.Arg2263=)
c.1369C= (p.Arg457=)
n.2063C=
c.961C= (p.Arg321=)
n.3450C=
c.6835C= (p.Arg2279=)
c.6805C= (p.Arg2269=)
c.6742C= (p.Arg2248=)
c.5740C= (p.Arg1914=)
c.188C=
c.6941C= (n.6941C=)
c.64+245C=
n.219C=
c.6796C= (p.Arg2266=)
c.6772C= (p.Arg2258=)
c.6832C= (p.Arg2278=)
17g.31338125C>GCA399014195NF1c.6787C>G (p.Arg2263Gly)
c.1369C>G (p.Arg457Gly)
n.2063C>G
c.961C>G (p.Arg321Gly)
n.3450C>G
c.6835C>G (p.Arg2279Gly)
c.6805C>G (p.Arg2269Gly)
c.6742C>G (p.Arg2248Gly)
c.5740C>G (p.Arg1914Gly)
c.188C>G
c.6941C>G (n.6941C>G)
c.64+245C>G
n.219C>G
c.6796C>G (p.Arg2266Gly)
c.6772C>G (p.Arg2258Gly)
c.6832C>G (p.Arg2278Gly)
 ClinVar dbSNP
17g.31338125C>TCA399014196NF1c.6787C>T (p.Arg2263Cys)
c.1369C>T (p.Arg457Cys)
n.2063C>T
c.961C>T (p.Arg321Cys)
n.3450C>T
c.6835C>T (p.Arg2279Cys)
c.6805C>T (p.Arg2269Cys)
c.6742C>T (p.Arg2248Cys)
c.5740C>T (p.Arg1914Cys)
c.188C>T
c.6941C>T (n.6941C>T)
c.64+245C>T
n.219C>T
c.6796C>T (p.Arg2266Cys)
c.6772C>T (p.Arg2258Cys)
c.6832C>T (p.Arg2278Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
17g.31338126G>ACA169320NF1c.6788G>A (p.Arg2263His)
c.1370G>A (p.Arg457His)
n.2064G>A
c.962G>A (p.Arg321His)
n.3451G>A
c.6836G>A (p.Arg2279His)
c.6806G>A (p.Arg2269His)
c.6743G>A (p.Arg2248His)
c.5741G>A (p.Arg1914His)
c.189G>A
c.6942G>A (n.6942G>A)
c.64+246G>A
n.220G>A
c.6797G>A (p.Arg2266His)
c.6773G>A (p.Arg2258His)
c.6833G>A (p.Arg2278His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338126G>CCA8487427NF1c.6788G>C (p.Arg2263Pro)
c.1370G>C (p.Arg457Pro)
n.2064G>C
c.962G>C (p.Arg321Pro)
n.3451G>C
c.6836G>C (p.Arg2279Pro)
c.6806G>C (p.Arg2269Pro)
c.6743G>C (p.Arg2248Pro)
c.5741G>C (p.Arg1914Pro)
c.189G>C
c.6942G>C (n.6942G>C)
c.64+246G>C
n.220G>C
c.6797G>C (p.Arg2266Pro)
c.6773G>C (p.Arg2258Pro)
c.6833G>C (p.Arg2278Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338126G=CA2255602877NF1c.6788G= (p.Arg2263=)
c.1370G= (p.Arg457=)
n.2064G=
c.962G= (p.Arg321=)
n.3451G=
c.6836G= (p.Arg2279=)
c.6806G= (p.Arg2269=)
c.6743G= (p.Arg2248=)
c.5741G= (p.Arg1914=)
c.189G=
c.6942G= (n.6942G=)
c.64+246G=
n.220G=
c.6797G= (p.Arg2266=)
c.6773G= (p.Arg2258=)
c.6833G= (p.Arg2278=)
17g.31338126G>TCA399014197NF1c.6788G>T (p.Arg2263Leu)
c.1370G>T (p.Arg457Leu)
n.2064G>T
c.962G>T (p.Arg321Leu)
n.3451G>T
c.6836G>T (p.Arg2279Leu)
c.6806G>T (p.Arg2269Leu)
c.6743G>T (p.Arg2248Leu)
c.5741G>T (p.Arg1914Leu)
c.189G>T
c.6942G>T (n.6942G>T)
c.64+246G>T
n.220G>T
c.6797G>T (p.Arg2266Leu)
c.6773G>T (p.Arg2258Leu)
c.6833G>T (p.Arg2278Leu)
17g.31338127T>ACA499234311NF1c.6789T>A (p.Arg2263=)
c.1371T>A (p.Arg457=)
n.2065T>A
c.963T>A (p.Arg321=)
n.3452T>A
c.6837T>A (p.Arg2279=)
c.6807T>A (p.Arg2269=)
c.6744T>A (p.Arg2248=)
c.5742T>A (p.Arg1914=)
c.190T>A
c.6943T>A (n.6943T>A)
c.64+247T>A
n.221T>A
c.6798T>A (p.Arg2266=)
c.6774T>A (p.Arg2258=)
c.6834T>A (p.Arg2278=)
 dbSNP
17g.31338127T>CCA499234312NF1c.6789T>C (p.Arg2263=)
c.1371T>C (p.Arg457=)
n.2065T>C
c.963T>C (p.Arg321=)
n.3452T>C
c.6837T>C (p.Arg2279=)
c.6807T>C (p.Arg2269=)
c.6744T>C (p.Arg2248=)
c.5742T>C (p.Arg1914=)
c.190T>C
c.6943T>C (n.6943T>C)
c.64+247T>C
n.221T>C
c.6798T>C (p.Arg2266=)
c.6774T>C (p.Arg2258=)
c.6834T>C (p.Arg2278=)
 dbSNP
17g.31338127T>GCA499234313NF1c.6789T>G (p.Arg2263=)
c.1371T>G (p.Arg457=)
n.2065T>G
c.963T>G (p.Arg321=)
n.3452T>G
c.6837T>G (p.Arg2279=)
c.6807T>G (p.Arg2269=)
c.6744T>G (p.Arg2248=)
c.5742T>G (p.Arg1914=)
c.190T>G
c.6943T>G (n.6943T>G)
c.64+247T>G
n.221T>G
c.6798T>G (p.Arg2266=)
c.6774T>G (p.Arg2258=)
c.6834T>G (p.Arg2278=)
 ClinVar dbSNP
17g.31338128A>CCA399014198NF1c.6790A>C (p.Ile2264Leu)
c.1372A>C (p.Ile458Leu)
n.2066A>C
c.964A>C (p.Ile322Leu)
n.3453A>C
c.6838A>C (p.Ile2280Leu)
c.6808A>C (p.Ile2270Leu)
c.6745A>C (p.Ile2249Leu)
c.5743A>C (p.Ile1915Leu)
c.191A>C
c.6944A>C (n.6944A>C)
c.64+248A>C
n.222A>C
c.6799A>C (p.Ile2267Leu)
c.6775A>C (p.Ile2259Leu)
c.6835A>C (p.Ile2279Leu)
 dbSNP
17g.31338128A>GCA399014200NF1c.6790A>G (p.Ile2264Val)
c.1372A>G (p.Ile458Val)
n.2066A>G
c.964A>G (p.Ile322Val)
n.3453A>G
c.6838A>G (p.Ile2280Val)
c.6808A>G (p.Ile2270Val)
c.6745A>G (p.Ile2249Val)
c.5743A>G (p.Ile1915Val)
c.191A>G
c.6944A>G (n.6944A>G)
c.64+248A>G
n.222A>G
c.6799A>G (p.Ile2267Val)
c.6775A>G (p.Ile2259Val)
c.6835A>G (p.Ile2279Val)
 ClinVar
17g.31338128A>TCA399014199NF1c.6790A>T (p.Ile2264Phe)
c.1372A>T (p.Ile458Phe)
n.2066A>T
c.964A>T (p.Ile322Phe)
n.3453A>T
c.6838A>T (p.Ile2280Phe)
c.6808A>T (p.Ile2270Phe)
c.6745A>T (p.Ile2249Phe)
c.5743A>T (p.Ile1915Phe)
c.191A>T
c.6944A>T (n.6944A>T)
c.64+248A>T
n.222A>T
c.6799A>T (p.Ile2267Phe)
c.6775A>T (p.Ile2259Phe)
c.6835A>T (p.Ile2279Phe)
 dbSNP
17g.31338128_31338129delinsATCA2255602878NF1c.6790_6791delinsAT (p.Ile2264=)
c.1372_1373delinsAT (p.Ile458=)
n.2066_2067delinsAT
c.964_965delinsAT (p.Ile322=)
n.3453_3454delinsAT
c.6838_6839delinsAT (p.Ile2280=)
c.6808_6809delinsAT (p.Ile2270=)
c.6745_6746delinsAT (p.Ile2249=)
c.5743_5744delinsAT (p.Ile1915=)
c.191_192delinsAT
c.6944_6945delinsAT (n.6944_6945delinsAT)
c.64+248_64+249delinsAT
n.222_223delinsAT
c.6799_6800delinsAT (p.Ile2267=)
c.6775_6776delinsAT (p.Ile2259=)
c.6835_6836delinsAT (p.Ile2279=)
17g.31338129T>ACA399014201NF1c.6791T>A (p.Ile2264Asn)
c.1373T>A (p.Ile458Asn)
n.2067T>A
c.965T>A (p.Ile322Asn)
n.3454T>A
c.6839T>A (p.Ile2280Asn)
c.6809T>A (p.Ile2270Asn)
c.6746T>A (p.Ile2249Asn)
c.5744T>A (p.Ile1915Asn)
c.192T>A
c.6945T>A (n.6945T>A)
c.64+249T>A
n.223T>A
c.6800T>A (p.Ile2267Asn)
c.6776T>A (p.Ile2259Asn)
c.6836T>A (p.Ile2279Asn)
17g.31338129T>CCA399014202NF1c.6791T>C (p.Ile2264Thr)
c.1373T>C (p.Ile458Thr)
n.2067T>C
c.965T>C (p.Ile322Thr)
n.3454T>C
c.6839T>C (p.Ile2280Thr)
c.6809T>C (p.Ile2270Thr)
c.6746T>C (p.Ile2249Thr)
c.5744T>C (p.Ile1915Thr)
c.192T>C
c.6945T>C (n.6945T>C)
c.64+249T>C
n.223T>C
c.6800T>C (p.Ile2267Thr)
c.6776T>C (p.Ile2259Thr)
c.6836T>C (p.Ile2279Thr)
17g.31338129T>GCA399014203NF1c.6791T>G (p.Ile2264Ser)
c.1373T>G (p.Ile458Ser)
n.2067T>G
c.965T>G (p.Ile322Ser)
n.3454T>G
c.6839T>G (p.Ile2280Ser)
c.6809T>G (p.Ile2270Ser)
c.6746T>G (p.Ile2249Ser)
c.5744T>G (p.Ile1915Ser)
c.192T>G
c.6945T>G (n.6945T>G)
c.64+249T>G
n.223T>G
c.6800T>G (p.Ile2267Ser)
c.6776T>G (p.Ile2259Ser)
c.6836T>G (p.Ile2279Ser)
 dbSNP
17g.31338130delCA645373108NF1c.6792del (p.Ser2266AlafsTer8)
c.1374del (p.Ser460AlafsTer8)
n.2068del
c.966del (p.Ser324AlafsTer8)
n.3455del
c.6840del (p.Ser2282AlafsTer8)
c.6810del (p.Ser2272AlafsTer8)
c.6747del (p.Ser2251AlafsTer8)
c.5745del (p.Ser1917AlafsTer8)
c.193del
c.6946del (n.6946del)
c.64+250del
n.224del
c.6801del (p.Ser2269AlafsTer8)
c.6777del (p.Ser2261AlafsTer8)
c.6837del (p.Ser2281AlafsTer8)
 ClinVar dbSNP
17g.31338130T>ACA499234314NF1c.6792T>A (p.Ile2264=)
c.1374T>A (p.Ile458=)
n.2068T>A
c.966T>A (p.Ile322=)
n.3455T>A
c.6840T>A (p.Ile2280=)
c.6810T>A (p.Ile2270=)
c.6747T>A (p.Ile2249=)
c.5745T>A (p.Ile1915=)
c.193T>A
c.6946T>A (n.6946T>A)
c.64+250T>A
n.224T>A
c.6801T>A (p.Ile2267=)
c.6777T>A (p.Ile2259=)
c.6837T>A (p.Ile2279=)
 dbSNP
17g.31338130T>CCA499234315NF1c.6792T>C (p.Ile2264=)
c.1374T>C (p.Ile458=)
n.2068T>C
c.966T>C (p.Ile322=)
n.3455T>C
c.6840T>C (p.Ile2280=)
c.6810T>C (p.Ile2270=)
c.6747T>C (p.Ile2249=)
c.5745T>C (p.Ile1915=)
c.193T>C
c.6946T>C (n.6946T>C)
c.64+250T>C
n.224T>C
c.6801T>C (p.Ile2267=)
c.6777T>C (p.Ile2259=)
c.6837T>C (p.Ile2279=)
17g.31338130T>GCA399014204NF1c.6792T>G (p.Ile2264Met)
c.1374T>G (p.Ile458Met)
n.2068T>G
c.966T>G (p.Ile322Met)
n.3455T>G
c.6840T>G (p.Ile2280Met)
c.6810T>G (p.Ile2270Met)
c.6747T>G (p.Ile2249Met)
c.5745T>G (p.Ile1915Met)
c.193T>G
c.6946T>G (n.6946T>G)
c.64+250T>G
n.224T>G
c.6801T>G (p.Ile2267Met)
c.6777T>G (p.Ile2259Met)
c.6837T>G (p.Ile2279Met)
17g.31338131C>ACA399014207NF1c.6793C>A (p.Leu2265Ile)
c.1375C>A (p.Leu459Ile)
n.2069C>A
c.967C>A (p.Leu323Ile)
n.3456C>A
c.6841C>A (p.Leu2281Ile)
c.6811C>A (p.Leu2271Ile)
c.6748C>A (p.Leu2250Ile)
c.5746C>A (p.Leu1916Ile)
c.194C>A
c.6947C>A (n.6947C>A)
c.64+251C>A
n.225C>A
c.6802C>A (p.Leu2268Ile)
c.6778C>A (p.Leu2260Ile)
c.6838C>A (p.Leu2280Ile)
17g.31338131C>GCA399014205NF1c.6793C>G (p.Leu2265Val)
c.1375C>G (p.Leu459Val)
n.2069C>G
c.967C>G (p.Leu323Val)
n.3456C>G
c.6841C>G (p.Leu2281Val)
c.6811C>G (p.Leu2271Val)
c.6748C>G (p.Leu2250Val)
c.5746C>G (p.Leu1916Val)
c.194C>G
c.6947C>G (n.6947C>G)
c.64+251C>G
n.225C>G
c.6802C>G (p.Leu2268Val)
c.6778C>G (p.Leu2260Val)
c.6838C>G (p.Leu2280Val)
 ClinVar dbSNP
17g.31338131C>TCA399014206NF1c.6793C>T (p.Leu2265Phe)
c.1375C>T (p.Leu459Phe)
n.2069C>T
c.967C>T (p.Leu323Phe)
n.3456C>T
c.6841C>T (p.Leu2281Phe)
c.6811C>T (p.Leu2271Phe)
c.6748C>T (p.Leu2250Phe)
c.5746C>T (p.Leu1916Phe)
c.194C>T
c.6947C>T (n.6947C>T)
c.64+251C>T
n.225C>T
c.6802C>T (p.Leu2268Phe)
c.6778C>T (p.Leu2260Phe)
c.6838C>T (p.Leu2280Phe)
 ClinVar dbSNP
17g.31338132T>ACA399014208NF1c.6794T>A (p.Leu2265His)
c.1376T>A (p.Leu459His)
n.2070T>A
c.968T>A (p.Leu323His)
n.3457T>A
c.6842T>A (p.Leu2281His)
c.6812T>A (p.Leu2271His)
c.6749T>A (p.Leu2250His)
c.5747T>A (p.Leu1916His)
c.195T>A
c.6948T>A (n.6948T>A)
c.64+252T>A
n.226T>A
c.6803T>A (p.Leu2268His)
c.6779T>A (p.Leu2260His)
c.6839T>A (p.Leu2280His)
 dbSNP
17g.31338132T>CCA399014209NF1c.6794T>C (p.Leu2265Pro)
c.1376T>C (p.Leu459Pro)
n.2070T>C
c.968T>C (p.Leu323Pro)
n.3457T>C
c.6842T>C (p.Leu2281Pro)
c.6812T>C (p.Leu2271Pro)
c.6749T>C (p.Leu2250Pro)
c.5747T>C (p.Leu1916Pro)
c.195T>C
c.6948T>C (n.6948T>C)
c.64+252T>C
n.226T>C
c.6803T>C (p.Leu2268Pro)
c.6779T>C (p.Leu2260Pro)
c.6839T>C (p.Leu2280Pro)
17g.31338132T>GCA399014210NF1c.6794T>G (p.Leu2265Arg)
c.1376T>G (p.Leu459Arg)
n.2070T>G
c.968T>G (p.Leu323Arg)
n.3457T>G
c.6842T>G (p.Leu2281Arg)
c.6812T>G (p.Leu2271Arg)
c.6749T>G (p.Leu2250Arg)
c.5747T>G (p.Leu1916Arg)
c.195T>G
c.6948T>G (n.6948T>G)
c.64+252T>G
n.226T>G
c.6803T>G (p.Leu2268Arg)
c.6779T>G (p.Leu2260Arg)
c.6839T>G (p.Leu2280Arg)
17g.31338133delCA2576223692NF1c.6795del (p.Ser2266AlafsTer8)
c.1377del (p.Ser460AlafsTer8)
n.2071del
c.969del (p.Ser324AlafsTer8)
n.3458del
c.6843del (p.Ser2282AlafsTer8)
c.6813del (p.Ser2272AlafsTer8)
c.6750del (p.Ser2251AlafsTer8)
c.5748del (p.Ser1917AlafsTer8)
c.196del
c.6949del (n.6949del)
c.64+253del
n.227del
c.6804del (p.Ser2269AlafsTer8)
c.6780del (p.Ser2261AlafsTer8)
c.6840del (p.Ser2281AlafsTer8)
17g.31338133T>ACA10580391NF1c.6795T>A (p.Leu2265=)
c.1377T>A (p.Leu459=)
n.2071T>A
c.969T>A (p.Leu323=)
n.3458T>A
c.6843T>A (p.Leu2281=)
c.6813T>A (p.Leu2271=)
c.6750T>A (p.Leu2250=)
c.5748T>A (p.Leu1916=)
c.196T>A
c.6949T>A (n.6949T>A)
c.64+253T>A
n.227T>A
c.6804T>A (p.Leu2268=)
c.6780T>A (p.Leu2260=)
c.6840T>A (p.Leu2280=)
 ClinVar dbSNP
17g.31338133T>CCA499234316NF1c.6795T>C (p.Leu2265=)
c.1377T>C (p.Leu459=)
n.2071T>C
c.969T>C (p.Leu323=)
n.3458T>C
c.6843T>C (p.Leu2281=)
c.6813T>C (p.Leu2271=)
c.6750T>C (p.Leu2250=)
c.5748T>C (p.Leu1916=)
c.196T>C
c.6949T>C (n.6949T>C)
c.64+253T>C
n.227T>C
c.6804T>C (p.Leu2268=)
c.6780T>C (p.Leu2260=)
c.6840T>C (p.Leu2280=)
 dbSNP
17g.31338133T>GCA499234317NF1c.6795T>G (p.Leu2265=)
c.1377T>G (p.Leu459=)
n.2071T>G
c.969T>G (p.Leu323=)
n.3458T>G
c.6843T>G (p.Leu2281=)
c.6813T>G (p.Leu2271=)
c.6750T>G (p.Leu2250=)
c.5748T>G (p.Leu1916=)
c.196T>G
c.6949T>G (n.6949T>G)
c.64+253T>G
n.227T>G
c.6804T>G (p.Leu2268=)
c.6780T>G (p.Leu2260=)
c.6840T>G (p.Leu2280=)
 dbSNP
17g.31338133T=CA2255602879NF1c.6795T= (p.Leu2265=)
c.1377T= (p.Leu459=)
n.2071T=
c.969T= (p.Leu323=)
n.3458T=
c.6843T= (p.Leu2281=)
c.6813T= (p.Leu2271=)
c.6750T= (p.Leu2250=)
c.5748T= (p.Leu1916=)
c.196T=
c.6949T= (n.6949T=)
c.64+253T=
n.227T=
c.6804T= (p.Leu2268=)
c.6780T= (p.Leu2260=)
c.6840T= (p.Leu2280=)

Number of alleles fetched