Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31343058G>ACA399015612NF1c.7094G>A (p.Cys2365Tyr)
c.1676G>A (p.Cys559Tyr)
c.1268G>A (p.Cys423Tyr)
n.3757G>A
c.51G>A
c.7142G>A (p.Cys2381Tyr)
c.7112G>A (p.Cys2371Tyr)
c.7049G>A (p.Cys2350Tyr)
c.6047G>A (p.Cys2016Tyr)
c.495G>A
c.7248G>A (n.7248G>A)
c.255G>A
n.354G>A
n.526G>A
c.7103G>A (p.Cys2368Tyr)
c.7079G>A (p.Cys2360Tyr)
c.7139G>A (p.Cys2380Tyr)
 dbSNP
17g.31343058G>CCA399015610NF1c.7094G>C (p.Cys2365Ser)
c.1676G>C (p.Cys559Ser)
c.1268G>C (p.Cys423Ser)
n.3757G>C
c.51G>C
c.7142G>C (p.Cys2381Ser)
c.7112G>C (p.Cys2371Ser)
c.7049G>C (p.Cys2350Ser)
c.6047G>C (p.Cys2016Ser)
c.495G>C
c.7248G>C (n.7248G>C)
c.255G>C
n.354G>C
n.526G>C
c.7103G>C (p.Cys2368Ser)
c.7079G>C (p.Cys2360Ser)
c.7139G>C (p.Cys2380Ser)
 dbSNP
17g.31343058G>TCA399015611NF1c.7094G>T (p.Cys2365Phe)
c.1676G>T (p.Cys559Phe)
c.1268G>T (p.Cys423Phe)
n.3757G>T
c.51G>T
c.7142G>T (p.Cys2381Phe)
c.7112G>T (p.Cys2371Phe)
c.7049G>T (p.Cys2350Phe)
c.6047G>T (p.Cys2016Phe)
c.495G>T
c.7248G>T (n.7248G>T)
c.255G>T
n.354G>T
n.526G>T
c.7103G>T (p.Cys2368Phe)
c.7079G>T (p.Cys2360Phe)
c.7139G>T (p.Cys2380Phe)
17g.31343058_31343063delCA2695225446NF1c.7094_7099del (p.Cys2365Ter)
c.1676_1681del (p.Cys559Ter)
c.1268_1273del (p.Cys423Ter)
n.3757_3762del
c.51_56del
c.7142_7147del (p.Cys2381Ter)
c.7112_7117del (p.Cys2371Ter)
c.7049_7054del (p.Cys2350Ter)
c.6047_6052del (p.Cys2016Ter)
c.495_500del
c.7248_7253del (n.7248_7253del)
c.255_260del
n.354_359del
n.526_531del
c.7103_7108del (p.Cys2368Ter)
c.7079_7084del (p.Cys2360Ter)
c.7139_7144del (p.Cys2380Ter)
17g.31343058_31343073delCA2695225447NF1c.7094_7109del (p.Cys2365PhefsTer20)
c.1676_1691del (p.Cys559PhefsTer20)
c.1268_1283del (p.Cys423PhefsTer20)
n.3757_3772del
c.51_66del
c.7142_7157del (p.Cys2381PhefsTer20)
c.7112_7127del (p.Cys2371PhefsTer20)
c.7049_7064del (p.Cys2350PhefsTer20)
c.6047_6062del (p.Cys2016PhefsTer20)
c.495_510del
c.7248_7263del (n.7248_7263del)
c.255_270del
n.354_369del
n.526_541del
c.7103_7118del (p.Cys2368PhefsTer20)
c.7079_7094del (p.Cys2360PhefsTer20)
c.7139_7154del (p.Cys2380PhefsTer20)
17g.31343059C>ACA399015613NF1c.7095C>A (p.Cys2365Ter)
c.1677C>A (p.Cys559Ter)
c.1269C>A (p.Cys423Ter)
n.3758C>A
c.52C>A
c.7143C>A (p.Cys2381Ter)
c.7113C>A (p.Cys2371Ter)
c.7050C>A (p.Cys2350Ter)
c.6048C>A (p.Cys2016Ter)
c.496C>A
c.7249C>A (n.7249C>A)
c.256C>A
n.355C>A
n.527C>A
c.7104C>A (p.Cys2368Ter)
c.7080C>A (p.Cys2360Ter)
c.7140C>A (p.Cys2380Ter)
 ClinVar dbSNP gnomAD v4
17g.31343059C=CA2255605086NF1c.7095C= (p.Cys2365=)
c.1677C= (p.Cys559=)
c.1269C= (p.Cys423=)
n.3758C=
c.52C=
c.7143C= (p.Cys2381=)
c.7113C= (p.Cys2371=)
c.7050C= (p.Cys2350=)
c.6048C= (p.Cys2016=)
c.496C=
c.7249C= (n.7249C=)
c.256C=
n.355C=
n.527C=
c.7104C= (p.Cys2368=)
c.7080C= (p.Cys2360=)
c.7140C= (p.Cys2380=)
17g.31343059C>GCA399015614NF1c.7095C>G (p.Cys2365Trp)
c.1677C>G (p.Cys559Trp)
c.1269C>G (p.Cys423Trp)
n.3758C>G
c.52C>G
c.7143C>G (p.Cys2381Trp)
c.7113C>G (p.Cys2371Trp)
c.7050C>G (p.Cys2350Trp)
c.6048C>G (p.Cys2016Trp)
c.496C>G
c.7249C>G (n.7249C>G)
c.256C>G
n.355C>G
n.527C>G
c.7104C>G (p.Cys2368Trp)
c.7080C>G (p.Cys2360Trp)
c.7140C>G (p.Cys2380Trp)
 dbSNP
17g.31343059C>TCA499236827NF1c.7095C>T (p.Cys2365=)
c.1677C>T (p.Cys559=)
c.1269C>T (p.Cys423=)
n.3758C>T
c.52C>T
c.7143C>T (p.Cys2381=)
c.7113C>T (p.Cys2371=)
c.7050C>T (p.Cys2350=)
c.6048C>T (p.Cys2016=)
c.496C>T
c.7249C>T (n.7249C>T)
c.256C>T
n.355C>T
n.527C>T
c.7104C>T (p.Cys2368=)
c.7080C>T (p.Cys2360=)
c.7140C>T (p.Cys2380=)
 ClinVar dbSNP
17g.31343059_31343079delinsCAAGCAAATGGATCATTTTGTCA2255605087NF1c.7095_7115delinsCAAGCAAATGGATCATTTTGT (p.Cys2365=)
c.1677_1697delinsCAAGCAAATGGATCATTTTGT (p.Cys559=)
c.1269_1289delinsCAAGCAAATGGATCATTTTGT (p.Cys423=)
n.3758_3778delinsCAAGCAAATGGATCATTTTGT
c.52_72delinsCAAGCAAATGGATCATTTTGT
c.7143_7163delinsCAAGCAAATGGATCATTTTGT (p.Cys2381=)
c.7113_7133delinsCAAGCAAATGGATCATTTTGT (p.Cys2371=)
c.7050_7070delinsCAAGCAAATGGATCATTTTGT (p.Cys2350=)
c.6048_6068delinsCAAGCAAATGGATCATTTTGT (p.Cys2016=)
c.496_516delinsCAAGCAAATGGATCATTTTGT
c.7249_7269delinsCAAGCAAATGGATCATTTTGT (n.7249_7269delinsCAAGCAAATGGATCATTTTGT)
c.256_276delinsCAAGCAAATGGATCATTTTGT
n.355_375delinsCAAGCAAATGGATCATTTTGT
n.527_547delinsCAAGCAAATGGATCATTTTGT
c.7104_7124delinsCAAGCAAATGGATCATTTTGT (p.Cys2368=)
c.7080_7100delinsCAAGCAAATGGATCATTTTGT (p.Cys2360=)
c.7140_7160delinsCAAGCAAATGGATCATTTTGT (p.Cys2380=)
17g.31343060A=CA2255605088NF1c.7096A= (p.Lys2366=)
c.1678A= (p.Lys560=)
c.1270A= (p.Lys424=)
n.3759A=
c.53A=
c.7144A= (p.Lys2382=)
c.7114A= (p.Lys2372=)
c.7051A= (p.Lys2351=)
c.6049A= (p.Lys2017=)
c.497A=
c.7250A= (n.7250A=)
c.257A=
n.356A=
n.528A=
c.7105A= (p.Lys2369=)
c.7081A= (p.Lys2361=)
c.7141A= (p.Lys2381=)
17g.31343060A>CCA399015615NF1c.7096A>C (p.Lys2366Gln)
c.1678A>C (p.Lys560Gln)
c.1270A>C (p.Lys424Gln)
n.3759A>C
c.53A>C
c.7144A>C (p.Lys2382Gln)
c.7114A>C (p.Lys2372Gln)
c.7051A>C (p.Lys2351Gln)
c.6049A>C (p.Lys2017Gln)
c.497A>C
c.7250A>C (n.7250A>C)
c.257A>C
n.356A>C
n.528A>C
c.7105A>C (p.Lys2369Gln)
c.7081A>C (p.Lys2361Gln)
c.7141A>C (p.Lys2381Gln)
17g.31343060A>GCA8487499NF1c.7096A>G (p.Lys2366Glu)
c.1678A>G (p.Lys560Glu)
c.1270A>G (p.Lys424Glu)
n.3759A>G
c.53A>G
c.7144A>G (p.Lys2382Glu)
c.7114A>G (p.Lys2372Glu)
c.7051A>G (p.Lys2351Glu)
c.6049A>G (p.Lys2017Glu)
c.497A>G
c.7250A>G (n.7250A>G)
c.257A>G
n.356A>G
n.528A>G
c.7105A>G (p.Lys2369Glu)
c.7081A>G (p.Lys2361Glu)
c.7141A>G (p.Lys2381Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343060A>TCA399015616NF1c.7096A>T (p.Lys2366Ter)
c.1678A>T (p.Lys560Ter)
c.1270A>T (p.Lys424Ter)
n.3759A>T
c.53A>T
c.7144A>T (p.Lys2382Ter)
c.7114A>T (p.Lys2372Ter)
c.7051A>T (p.Lys2351Ter)
c.6049A>T (p.Lys2017Ter)
c.497A>T
c.7250A>T (n.7250A>T)
c.257A>T
n.356A>T
n.528A>T
c.7105A>T (p.Lys2369Ter)
c.7081A>T (p.Lys2361Ter)
c.7141A>T (p.Lys2381Ter)
 ClinVar dbSNP
17g.31343061delCA2573054399NF1c.7097del (p.Lys2366SerfsTer24)
c.1679del (p.Lys560SerfsTer24)
c.1271del (p.Lys424SerfsTer24)
n.3760del
c.54del
c.7145del (p.Lys2382SerfsTer24)
c.7115del (p.Lys2372SerfsTer24)
c.7052del (p.Lys2351SerfsTer24)
c.6050del (p.Lys2017SerfsTer24)
c.498del
c.7251del (n.7251del)
c.258del
n.357del
n.529del
c.7106del (p.Lys2369SerfsTer24)
c.7082del (p.Lys2361SerfsTer24)
c.7142del (p.Lys2381SerfsTer24)
 ClinVar dbSNP
17g.31343060_31343079delCA916080693NF1c.7096_7115del (p.Lys2366TrpfsTer7)
c.1678_1697del (p.Lys560TrpfsTer7)
c.1270_1289del (p.Lys424TrpfsTer7)
n.3759_3778del
c.53_72del
c.7144_7163del (p.Lys2382TrpfsTer7)
c.7114_7133del (p.Lys2372TrpfsTer7)
c.7051_7070del (p.Lys2351TrpfsTer7)
c.6049_6068del (p.Lys2017TrpfsTer7)
c.497_516del
c.7250_7269del (n.7250_7269del)
c.257_276del
n.356_375del
n.528_547del
c.7105_7124del (p.Lys2369TrpfsTer7)
c.7081_7100del (p.Lys2361TrpfsTer7)
c.7141_7160del (p.Lys2381TrpfsTer7)
 ClinVar dbSNP
17g.31343061A>CCA399015617NF1c.7097A>C (p.Lys2366Thr)
c.1679A>C (p.Lys560Thr)
c.1271A>C (p.Lys424Thr)
n.3760A>C
c.54A>C
c.7145A>C (p.Lys2382Thr)
c.7115A>C (p.Lys2372Thr)
c.7052A>C (p.Lys2351Thr)
c.6050A>C (p.Lys2017Thr)
c.498A>C
c.7251A>C (n.7251A>C)
c.258A>C
n.357A>C
n.529A>C
c.7106A>C (p.Lys2369Thr)
c.7082A>C (p.Lys2361Thr)
c.7142A>C (p.Lys2381Thr)
17g.31343061A>GCA399015618NF1c.7097A>G (p.Lys2366Arg)
c.1679A>G (p.Lys560Arg)
c.1271A>G (p.Lys424Arg)
n.3760A>G
c.54A>G
c.7145A>G (p.Lys2382Arg)
c.7115A>G (p.Lys2372Arg)
c.7052A>G (p.Lys2351Arg)
c.6050A>G (p.Lys2017Arg)
c.498A>G
c.7251A>G (n.7251A>G)
c.258A>G
n.357A>G
n.529A>G
c.7106A>G (p.Lys2369Arg)
c.7082A>G (p.Lys2361Arg)
c.7142A>G (p.Lys2381Arg)
 COSMIC COSMIC COSMIC
17g.31343061A>TCA399015619NF1c.7097A>T (p.Lys2366Met)
c.1679A>T (p.Lys560Met)
c.1271A>T (p.Lys424Met)
n.3760A>T
c.54A>T
c.7145A>T (p.Lys2382Met)
c.7115A>T (p.Lys2372Met)
c.7052A>T (p.Lys2351Met)
c.6050A>T (p.Lys2017Met)
c.498A>T
c.7251A>T (n.7251A>T)
c.258A>T
n.357A>T
n.529A>T
c.7106A>T (p.Lys2369Met)
c.7082A>T (p.Lys2361Met)
c.7142A>T (p.Lys2381Met)
 dbSNP
17g.31343062G>ACA499236828NF1c.7098G>A (p.Lys2366=)
c.1680G>A (p.Lys560=)
c.1272G>A (p.Lys424=)
n.3761G>A
c.55G>A
c.7146G>A (p.Lys2382=)
c.7116G>A (p.Lys2372=)
c.7053G>A (p.Lys2351=)
c.6051G>A (p.Lys2017=)
c.499G>A
c.7252G>A (n.7252G>A)
c.259G>A
n.358G>A
n.530G>A
c.7107G>A (p.Lys2369=)
c.7083G>A (p.Lys2361=)
c.7143G>A (p.Lys2381=)
 ClinVar dbSNP
17g.31343062G>CCA399015620NF1c.7098G>C (p.Lys2366Asn)
c.1680G>C (p.Lys560Asn)
c.1272G>C (p.Lys424Asn)
n.3761G>C
c.55G>C
c.7146G>C (p.Lys2382Asn)
c.7116G>C (p.Lys2372Asn)
c.7053G>C (p.Lys2351Asn)
c.6051G>C (p.Lys2017Asn)
c.499G>C
c.7252G>C (n.7252G>C)
c.259G>C
n.358G>C
n.530G>C
c.7107G>C (p.Lys2369Asn)
c.7083G>C (p.Lys2361Asn)
c.7143G>C (p.Lys2381Asn)
 dbSNP
17g.31343062G>TCA399015621NF1c.7098G>T (p.Lys2366Asn)
c.1680G>T (p.Lys560Asn)
c.1272G>T (p.Lys424Asn)
n.3761G>T
c.55G>T
c.7146G>T (p.Lys2382Asn)
c.7116G>T (p.Lys2372Asn)
c.7053G>T (p.Lys2351Asn)
c.6051G>T (p.Lys2017Asn)
c.499G>T
c.7252G>T (n.7252G>T)
c.259G>T
n.358G>T
n.530G>T
c.7107G>T (p.Lys2369Asn)
c.7083G>T (p.Lys2361Asn)
c.7143G>T (p.Lys2381Asn)
 COSMIC COSMIC
17g.31343063C>ACA399015624NF1c.7099C>A (p.Gln2367Lys)
c.1681C>A (p.Gln561Lys)
c.1273C>A (p.Gln425Lys)
n.3762C>A
c.56C>A
c.7147C>A (p.Gln2383Lys)
c.7117C>A (p.Gln2373Lys)
c.7054C>A (p.Gln2352Lys)
c.6052C>A (p.Gln2018Lys)
c.500C>A
c.7253C>A (n.7253C>A)
c.260C>A
n.359C>A
n.531C>A
c.7108C>A (p.Gln2370Lys)
c.7084C>A (p.Gln2362Lys)
c.7144C>A (p.Gln2382Lys)
17g.31343063C=CA2255605089NF1c.7099C= (p.Gln2367=)
c.1681C= (p.Gln561=)
c.1273C= (p.Gln425=)
n.3762C=
c.56C=
c.7147C= (p.Gln2383=)
c.7117C= (p.Gln2373=)
c.7054C= (p.Gln2352=)
c.6052C= (p.Gln2018=)
c.500C=
c.7253C= (n.7253C=)
c.260C=
n.359C=
n.531C=
c.7108C= (p.Gln2370=)
c.7084C= (p.Gln2362=)
c.7144C= (p.Gln2382=)
17g.31343063C>GCA399015623NF1c.7099C>G (p.Gln2367Glu)
c.1681C>G (p.Gln561Glu)
c.1273C>G (p.Gln425Glu)
n.3762C>G
c.56C>G
c.7147C>G (p.Gln2383Glu)
c.7117C>G (p.Gln2373Glu)
c.7054C>G (p.Gln2352Glu)
c.6052C>G (p.Gln2018Glu)
c.500C>G
c.7253C>G (n.7253C>G)
c.260C>G
n.359C>G
n.531C>G
c.7108C>G (p.Gln2370Glu)
c.7084C>G (p.Gln2362Glu)
c.7144C>G (p.Gln2382Glu)
 dbSNP
17g.31343063C>TCA399015622NF1c.7099C>T (p.Gln2367Ter)
c.1681C>T (p.Gln561Ter)
c.1273C>T (p.Gln425Ter)
n.3762C>T
c.56C>T
c.7147C>T (p.Gln2383Ter)
c.7117C>T (p.Gln2373Ter)
c.7054C>T (p.Gln2352Ter)
c.6052C>T (p.Gln2018Ter)
c.500C>T
c.7253C>T (n.7253C>T)
c.260C>T
n.359C>T
n.531C>T
c.7108C>T (p.Gln2370Ter)
c.7084C>T (p.Gln2362Ter)
c.7144C>T (p.Gln2382Ter)
 ClinVar dbSNP COSMIC
17g.31343064A>CCA399015625NF1c.7100A>C (p.Gln2367Pro)
c.1682A>C (p.Gln561Pro)
c.1274A>C (p.Gln425Pro)
n.3763A>C
c.57A>C
c.7148A>C (p.Gln2383Pro)
c.7118A>C (p.Gln2373Pro)
c.7055A>C (p.Gln2352Pro)
c.6053A>C (p.Gln2018Pro)
c.501A>C
c.7254A>C (n.7254A>C)
c.261A>C
n.360A>C
n.532A>C
c.7109A>C (p.Gln2370Pro)
c.7085A>C (p.Gln2362Pro)
c.7145A>C (p.Gln2382Pro)
17g.31343064A>GCA399015626NF1c.7100A>G (p.Gln2367Arg)
c.1682A>G (p.Gln561Arg)
c.1274A>G (p.Gln425Arg)
n.3763A>G
c.57A>G
c.7148A>G (p.Gln2383Arg)
c.7118A>G (p.Gln2373Arg)
c.7055A>G (p.Gln2352Arg)
c.6053A>G (p.Gln2018Arg)
c.501A>G
c.7254A>G (n.7254A>G)
c.261A>G
n.360A>G
n.532A>G
c.7109A>G (p.Gln2370Arg)
c.7085A>G (p.Gln2362Arg)
c.7145A>G (p.Gln2382Arg)
17g.31343064A>TCA399015627NF1c.7100A>T (p.Gln2367Leu)
c.1682A>T (p.Gln561Leu)
c.1274A>T (p.Gln425Leu)
n.3763A>T
c.57A>T
c.7148A>T (p.Gln2383Leu)
c.7118A>T (p.Gln2373Leu)
c.7055A>T (p.Gln2352Leu)
c.6053A>T (p.Gln2018Leu)
c.501A>T
c.7254A>T (n.7254A>T)
c.261A>T
n.360A>T
n.532A>T
c.7109A>T (p.Gln2370Leu)
c.7085A>T (p.Gln2362Leu)
c.7145A>T (p.Gln2382Leu)
17g.31343066dupCA916080694NF1c.7102dup (p.Met2368AsnfsTer12)
c.1684dup (p.Met562AsnfsTer12)
c.1276dup (p.Met426AsnfsTer12)
n.3765dup
c.59dup
c.7150dup (p.Met2384AsnfsTer12)
c.7120dup (p.Met2374AsnfsTer12)
c.7057dup (p.Met2353AsnfsTer12)
c.6055dup (p.Met2019AsnfsTer12)
c.503dup
c.7256dup (n.7256dup)
c.263dup
n.362dup
n.534dup
c.7111dup (p.Met2371AsnfsTer12)
c.7087dup (p.Met2363AsnfsTer12)
c.7147dup (p.Met2383AsnfsTer12)
 ClinVar dbSNP
17g.31343065A>CCA399015628NF1c.7101A>C (p.Gln2367His)
c.1683A>C (p.Gln561His)
c.1275A>C (p.Gln425His)
n.3764A>C
c.58A>C
c.7149A>C (p.Gln2383His)
c.7119A>C (p.Gln2373His)
c.7056A>C (p.Gln2352His)
c.6054A>C (p.Gln2018His)
c.502A>C
c.7255A>C (n.7255A>C)
c.262A>C
n.361A>C
n.533A>C
c.7110A>C (p.Gln2370His)
c.7086A>C (p.Gln2362His)
c.7146A>C (p.Gln2382His)
17g.31343065A>GCA499236829NF1c.7101A>G (p.Gln2367=)
c.1683A>G (p.Gln561=)
c.1275A>G (p.Gln425=)
n.3764A>G
c.58A>G
c.7149A>G (p.Gln2383=)
c.7119A>G (p.Gln2373=)
c.7056A>G (p.Gln2352=)
c.6054A>G (p.Gln2018=)
c.502A>G
c.7255A>G (n.7255A>G)
c.262A>G
n.361A>G
n.533A>G
c.7110A>G (p.Gln2370=)
c.7086A>G (p.Gln2362=)
c.7146A>G (p.Gln2382=)
17g.31343065A>TCA399015629NF1c.7101A>T (p.Gln2367His)
c.1683A>T (p.Gln561His)
c.1275A>T (p.Gln425His)
n.3764A>T
c.58A>T
c.7149A>T (p.Gln2383His)
c.7119A>T (p.Gln2373His)
c.7056A>T (p.Gln2352His)
c.6054A>T (p.Gln2018His)
c.502A>T
c.7255A>T (n.7255A>T)
c.262A>T
n.361A>T
n.533A>T
c.7110A>T (p.Gln2370His)
c.7086A>T (p.Gln2362His)
c.7146A>T (p.Gln2382His)
 dbSNP
17g.31343066A=CA2255605090NF1c.7102A= (p.Met2368=)
c.1684A= (p.Met562=)
c.1276A= (p.Met426=)
n.3765A=
c.59A=
c.7150A= (p.Met2384=)
c.7120A= (p.Met2374=)
c.7057A= (p.Met2353=)
c.6055A= (p.Met2019=)
c.503A=
c.7256A= (n.7256A=)
c.263A=
n.362A=
n.534A=
c.7111A= (p.Met2371=)
c.7087A= (p.Met2363=)
c.7147A= (p.Met2383=)
17g.31343066A>CCA399015632NF1c.7102A>C (p.Met2368Leu)
c.1684A>C (p.Met562Leu)
c.1276A>C (p.Met426Leu)
n.3765A>C
c.59A>C
c.7150A>C (p.Met2384Leu)
c.7120A>C (p.Met2374Leu)
c.7057A>C (p.Met2353Leu)
c.6055A>C (p.Met2019Leu)
c.503A>C
c.7256A>C (n.7256A>C)
c.263A>C
n.362A>C
n.534A>C
c.7111A>C (p.Met2371Leu)
c.7087A>C (p.Met2363Leu)
c.7147A>C (p.Met2383Leu)
17g.31343066A>GCA399015631NF1c.7102A>G (p.Met2368Val)
c.1684A>G (p.Met562Val)
c.1276A>G (p.Met426Val)
n.3765A>G
c.59A>G
c.7150A>G (p.Met2384Val)
c.7120A>G (p.Met2374Val)
c.7057A>G (p.Met2353Val)
c.6055A>G (p.Met2019Val)
c.503A>G
c.7256A>G (n.7256A>G)
c.263A>G
n.362A>G
n.534A>G
c.7111A>G (p.Met2371Val)
c.7087A>G (p.Met2363Val)
c.7147A>G (p.Met2383Val)
 ClinVar dbSNP
17g.31343066A>TCA399015630NF1c.7102A>T (p.Met2368Leu)
c.1684A>T (p.Met562Leu)
c.1276A>T (p.Met426Leu)
n.3765A>T
c.59A>T
c.7150A>T (p.Met2384Leu)
c.7120A>T (p.Met2374Leu)
c.7057A>T (p.Met2353Leu)
c.6055A>T (p.Met2019Leu)
c.503A>T
c.7256A>T (n.7256A>T)
c.263A>T
n.362A>T
n.534A>T
c.7111A>T (p.Met2371Leu)
c.7087A>T (p.Met2363Leu)
c.7147A>T (p.Met2383Leu)
 ClinVar dbSNP
17g.31343067delCA2739265559NF1c.7103del (p.Met2368ArgfsTer22)
c.1685del (p.Met562ArgfsTer22)
c.1277del (p.Met426ArgfsTer22)
n.3766del
c.60del
c.7151del (p.Met2384ArgfsTer22)
c.7121del (p.Met2374ArgfsTer22)
c.7058del (p.Met2353ArgfsTer22)
c.6056del (p.Met2019ArgfsTer22)
c.504del
c.7257del (n.7257del)
c.264del
n.363del
n.535del
c.7112del (p.Met2371ArgfsTer22)
c.7088del (p.Met2363ArgfsTer22)
c.7148del (p.Met2383ArgfsTer22)
 ClinVar
17g.31343067T>ACA399015633NF1c.7103T>A (p.Met2368Lys)
c.1685T>A (p.Met562Lys)
c.1277T>A (p.Met426Lys)
n.3766T>A
c.60T>A
c.7151T>A (p.Met2384Lys)
c.7121T>A (p.Met2374Lys)
c.7058T>A (p.Met2353Lys)
c.6056T>A (p.Met2019Lys)
c.504T>A
c.7257T>A (n.7257T>A)
c.264T>A
n.363T>A
n.535T>A
c.7112T>A (p.Met2371Lys)
c.7088T>A (p.Met2363Lys)
c.7148T>A (p.Met2383Lys)
17g.31343067T>CCA399015634NF1c.7103T>C (p.Met2368Thr)
c.1685T>C (p.Met562Thr)
c.1277T>C (p.Met426Thr)
n.3766T>C
c.60T>C
c.7151T>C (p.Met2384Thr)
c.7121T>C (p.Met2374Thr)
c.7058T>C (p.Met2353Thr)
c.6056T>C (p.Met2019Thr)
c.504T>C
c.7257T>C (n.7257T>C)
c.264T>C
n.363T>C
n.535T>C
c.7112T>C (p.Met2371Thr)
c.7088T>C (p.Met2363Thr)
c.7148T>C (p.Met2383Thr)
 gnomAD v4
17g.31343067T>GCA399015635NF1c.7103T>G (p.Met2368Arg)
c.1685T>G (p.Met562Arg)
c.1277T>G (p.Met426Arg)
n.3766T>G
c.60T>G
c.7151T>G (p.Met2384Arg)
c.7121T>G (p.Met2374Arg)
c.7058T>G (p.Met2353Arg)
c.6056T>G (p.Met2019Arg)
c.504T>G
c.7257T>G (n.7257T>G)
c.264T>G
n.363T>G
n.535T>G
c.7112T>G (p.Met2371Arg)
c.7088T>G (p.Met2363Arg)
c.7148T>G (p.Met2383Arg)
 ClinVar
17g.31343068G>ACA399015636NF1c.7104G>A (p.Met2368Ile)
c.1686G>A (p.Met562Ile)
c.1278G>A (p.Met426Ile)
n.3767G>A
c.61G>A
c.7152G>A (p.Met2384Ile)
c.7122G>A (p.Met2374Ile)
c.7059G>A (p.Met2353Ile)
c.6057G>A (p.Met2019Ile)
c.505G>A
c.7258G>A (n.7258G>A)
c.265G>A
n.364G>A
n.536G>A
c.7113G>A (p.Met2371Ile)
c.7089G>A (p.Met2363Ile)
c.7149G>A (p.Met2383Ile)
 ClinVar dbSNP
17g.31343068G>CCA399015637NF1c.7104G>C (p.Met2368Ile)
c.1686G>C (p.Met562Ile)
c.1278G>C (p.Met426Ile)
n.3767G>C
c.61G>C
c.7152G>C (p.Met2384Ile)
c.7122G>C (p.Met2374Ile)
c.7059G>C (p.Met2353Ile)
c.6057G>C (p.Met2019Ile)
c.505G>C
c.7258G>C (n.7258G>C)
c.265G>C
n.364G>C
n.536G>C
c.7113G>C (p.Met2371Ile)
c.7089G>C (p.Met2363Ile)
c.7149G>C (p.Met2383Ile)
 dbSNP
17g.31343068G>TCA399015638NF1c.7104G>T (p.Met2368Ile)
c.1686G>T (p.Met562Ile)
c.1278G>T (p.Met426Ile)
n.3767G>T
c.61G>T
c.7152G>T (p.Met2384Ile)
c.7122G>T (p.Met2374Ile)
c.7059G>T (p.Met2353Ile)
c.6057G>T (p.Met2019Ile)
c.505G>T
c.7258G>T (n.7258G>T)
c.265G>T
n.364G>T
n.536G>T
c.7113G>T (p.Met2371Ile)
c.7089G>T (p.Met2363Ile)
c.7149G>T (p.Met2383Ile)
17g.31343069G>ACA399015639NF1c.7105G>A (p.Asp2369Asn)
c.1687G>A (p.Asp563Asn)
c.1279G>A (p.Asp427Asn)
n.3768G>A
c.62G>A
c.7153G>A (p.Asp2385Asn)
c.7123G>A (p.Asp2375Asn)
c.7060G>A (p.Asp2354Asn)
c.6058G>A (p.Asp2020Asn)
c.506G>A
c.7259G>A (n.7259G>A)
c.266G>A
n.365G>A
n.537G>A
c.7114G>A (p.Asp2372Asn)
c.7090G>A (p.Asp2364Asn)
c.7150G>A (p.Asp2384Asn)
 dbSNP
17g.31343069G>CCA399015641NF1c.7105G>C (p.Asp2369His)
c.1687G>C (p.Asp563His)
c.1279G>C (p.Asp427His)
n.3768G>C
c.62G>C
c.7153G>C (p.Asp2385His)
c.7123G>C (p.Asp2375His)
c.7060G>C (p.Asp2354His)
c.6058G>C (p.Asp2020His)
c.506G>C
c.7259G>C (n.7259G>C)
c.266G>C
n.365G>C
n.537G>C
c.7114G>C (p.Asp2372His)
c.7090G>C (p.Asp2364His)
c.7150G>C (p.Asp2384His)
 dbSNP COSMIC COSMIC COSMIC
17g.31343069G>TCA399015640NF1c.7105G>T (p.Asp2369Tyr)
c.1687G>T (p.Asp563Tyr)
c.1279G>T (p.Asp427Tyr)
n.3768G>T
c.62G>T
c.7153G>T (p.Asp2385Tyr)
c.7123G>T (p.Asp2375Tyr)
c.7060G>T (p.Asp2354Tyr)
c.6058G>T (p.Asp2020Tyr)
c.506G>T
c.7259G>T (n.7259G>T)
c.266G>T
n.365G>T
n.537G>T
c.7114G>T (p.Asp2372Tyr)
c.7090G>T (p.Asp2364Tyr)
c.7150G>T (p.Asp2384Tyr)
 dbSNP
17g.31343070A=CA2255605091NF1c.7106A= (p.Asp2369=)
c.1688A= (p.Asp563=)
c.1280A= (p.Asp427=)
n.3769A=
c.63A=
c.7154A= (p.Asp2385=)
c.7124A= (p.Asp2375=)
c.7061A= (p.Asp2354=)
c.6059A= (p.Asp2020=)
c.507A=
c.7260A= (n.7260A=)
c.267A=
n.366A=
n.538A=
c.7115A= (p.Asp2372=)
c.7091A= (p.Asp2364=)
c.7151A= (p.Asp2384=)
17g.31343070A>CCA399015642NF1c.7106A>C (p.Asp2369Ala)
c.1688A>C (p.Asp563Ala)
c.1280A>C (p.Asp427Ala)
n.3769A>C
c.63A>C
c.7154A>C (p.Asp2385Ala)
c.7124A>C (p.Asp2375Ala)
c.7061A>C (p.Asp2354Ala)
c.6059A>C (p.Asp2020Ala)
c.507A>C
c.7260A>C (n.7260A>C)
c.267A>C
n.366A>C
n.538A>C
c.7115A>C (p.Asp2372Ala)
c.7091A>C (p.Asp2364Ala)
c.7151A>C (p.Asp2384Ala)
17g.31343070A>GCA8487500NF1c.7106A>G (p.Asp2369Gly)
c.1688A>G (p.Asp563Gly)
c.1280A>G (p.Asp427Gly)
n.3769A>G
c.63A>G
c.7154A>G (p.Asp2385Gly)
c.7124A>G (p.Asp2375Gly)
c.7061A>G (p.Asp2354Gly)
c.6059A>G (p.Asp2020Gly)
c.507A>G
c.7260A>G (n.7260A>G)
c.267A>G
n.366A>G
n.538A>G
c.7115A>G (p.Asp2372Gly)
c.7091A>G (p.Asp2364Gly)
c.7151A>G (p.Asp2384Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343070A>TCA399015643NF1c.7106A>T (p.Asp2369Val)
c.1688A>T (p.Asp563Val)
c.1280A>T (p.Asp427Val)
n.3769A>T
c.63A>T
c.7154A>T (p.Asp2385Val)
c.7124A>T (p.Asp2375Val)
c.7061A>T (p.Asp2354Val)
c.6059A>T (p.Asp2020Val)
c.507A>T
c.7260A>T (n.7260A>T)
c.267A>T
n.366A>T
n.538A>T
c.7115A>T (p.Asp2372Val)
c.7091A>T (p.Asp2364Val)
c.7151A>T (p.Asp2384Val)
 dbSNP
17g.31343071T>ACA399015644NF1c.7107T>A (p.Asp2369Glu)
c.1689T>A (p.Asp563Glu)
c.1281T>A (p.Asp427Glu)
n.3770T>A
c.64T>A
c.7155T>A (p.Asp2385Glu)
c.7125T>A (p.Asp2375Glu)
c.7062T>A (p.Asp2354Glu)
c.6060T>A (p.Asp2020Glu)
c.508T>A
c.7261T>A (n.7261T>A)
c.268T>A
n.367T>A
n.539T>A
c.7116T>A (p.Asp2372Glu)
c.7092T>A (p.Asp2364Glu)
c.7152T>A (p.Asp2384Glu)
 ClinVar dbSNP
17g.31343071T>CCA499236830NF1c.7107T>C (p.Asp2369=)
c.1689T>C (p.Asp563=)
c.1281T>C (p.Asp427=)
n.3770T>C
c.64T>C
c.7155T>C (p.Asp2385=)
c.7125T>C (p.Asp2375=)
c.7062T>C (p.Asp2354=)
c.6060T>C (p.Asp2020=)
c.508T>C
c.7261T>C (n.7261T>C)
c.268T>C
n.367T>C
n.539T>C
c.7116T>C (p.Asp2372=)
c.7092T>C (p.Asp2364=)
c.7152T>C (p.Asp2384=)
 ClinVar dbSNP
17g.31343071T>GCA399015645NF1c.7107T>G (p.Asp2369Glu)
c.1689T>G (p.Asp563Glu)
c.1281T>G (p.Asp427Glu)
n.3770T>G
c.64T>G
c.7155T>G (p.Asp2385Glu)
c.7125T>G (p.Asp2375Glu)
c.7062T>G (p.Asp2354Glu)
c.6060T>G (p.Asp2020Glu)
c.508T>G
c.7261T>G (n.7261T>G)
c.268T>G
n.367T>G
n.539T>G
c.7116T>G (p.Asp2372Glu)
c.7092T>G (p.Asp2364Glu)
c.7152T>G (p.Asp2384Glu)
 dbSNP
17g.31343071T=CA2255605092NF1c.7107T= (p.Asp2369=)
c.1689T= (p.Asp563=)
c.1281T= (p.Asp427=)
n.3770T=
c.64T=
c.7155T= (p.Asp2385=)
c.7125T= (p.Asp2375=)
c.7062T= (p.Asp2354=)
c.6060T= (p.Asp2020=)
c.508T=
c.7261T= (n.7261T=)
c.268T=
n.367T=
n.539T=
c.7116T= (p.Asp2372=)
c.7092T= (p.Asp2364=)
c.7152T= (p.Asp2384=)
17g.31343072C>ACA399015646NF1c.7108C>A (p.His2370Asn)
c.1690C>A (p.His564Asn)
c.1282C>A (p.His428Asn)
n.3771C>A
c.65C>A
c.7156C>A (p.His2386Asn)
c.7126C>A (p.His2376Asn)
c.7063C>A (p.His2355Asn)
c.6061C>A (p.His2021Asn)
c.509C>A
c.7262C>A (n.7262C>A)
c.269C>A
n.368C>A
n.540C>A
c.7117C>A (p.His2373Asn)
c.7093C>A (p.His2365Asn)
c.7153C>A (p.His2385Asn)
 dbSNP
17g.31343072C>GCA399015647NF1c.7108C>G (p.His2370Asp)
c.1690C>G (p.His564Asp)
c.1282C>G (p.His428Asp)
n.3771C>G
c.65C>G
c.7156C>G (p.His2386Asp)
c.7126C>G (p.His2376Asp)
c.7063C>G (p.His2355Asp)
c.6061C>G (p.His2021Asp)
c.509C>G
c.7262C>G (n.7262C>G)
c.269C>G
n.368C>G
n.540C>G
c.7117C>G (p.His2373Asp)
c.7093C>G (p.His2365Asp)
c.7153C>G (p.His2385Asp)
 dbSNP
17g.31343072C>TCA399015648NF1c.7108C>T (p.His2370Tyr)
c.1690C>T (p.His564Tyr)
c.1282C>T (p.His428Tyr)
n.3771C>T
c.65C>T
c.7156C>T (p.His2386Tyr)
c.7126C>T (p.His2376Tyr)
c.7063C>T (p.His2355Tyr)
c.6061C>T (p.His2021Tyr)
c.509C>T
c.7262C>T (n.7262C>T)
c.269C>T
n.368C>T
n.540C>T
c.7117C>T (p.His2373Tyr)
c.7093C>T (p.His2365Tyr)
c.7153C>T (p.His2385Tyr)
 dbSNP COSMIC COSMIC COSMIC
17g.31343073A>CCA399015649NF1c.7109A>C (p.His2370Pro)
c.1691A>C (p.His564Pro)
c.1283A>C (p.His428Pro)
n.3772A>C
c.66A>C
c.7157A>C (p.His2386Pro)
c.7127A>C (p.His2376Pro)
c.7064A>C (p.His2355Pro)
c.6062A>C (p.His2021Pro)
c.510A>C
c.7263A>C (n.7263A>C)
c.270A>C
n.369A>C
n.541A>C
c.7118A>C (p.His2373Pro)
c.7094A>C (p.His2365Pro)
c.7154A>C (p.His2385Pro)
17g.31343073A>GCA399015650NF1c.7109A>G (p.His2370Arg)
c.1691A>G (p.His564Arg)
c.1283A>G (p.His428Arg)
n.3772A>G
c.66A>G
c.7157A>G (p.His2386Arg)
c.7127A>G (p.His2376Arg)
c.7064A>G (p.His2355Arg)
c.6062A>G (p.His2021Arg)
c.510A>G
c.7263A>G (n.7263A>G)
c.270A>G
n.369A>G
n.541A>G
c.7118A>G (p.His2373Arg)
c.7094A>G (p.His2365Arg)
c.7154A>G (p.His2385Arg)
17g.31343073A>TCA399015651NF1c.7109A>T (p.His2370Leu)
c.1691A>T (p.His564Leu)
c.1283A>T (p.His428Leu)
n.3772A>T
c.66A>T
c.7157A>T (p.His2386Leu)
c.7127A>T (p.His2376Leu)
c.7064A>T (p.His2355Leu)
c.6062A>T (p.His2021Leu)
c.510A>T
c.7263A>T (n.7263A>T)
c.270A>T
n.369A>T
n.541A>T
c.7118A>T (p.His2373Leu)
c.7094A>T (p.His2365Leu)
c.7154A>T (p.His2385Leu)
17g.31343073_31343074delinsATCA2255605093NF1c.7109_7110delinsAT (p.His2370=)
c.1691_1692delinsAT (p.His564=)
c.1283_1284delinsAT (p.His428=)
n.3772_3773delinsAT
c.66_67delinsAT
c.7157_7158delinsAT (p.His2386=)
c.7127_7128delinsAT (p.His2376=)
c.7064_7065delinsAT (p.His2355=)
c.6062_6063delinsAT (p.His2021=)
c.510_511delinsAT
c.7263_7264delinsAT (n.7263_7264delinsAT)
c.270_271delinsAT
n.369_370delinsAT
n.541_542delinsAT
c.7118_7119delinsAT (p.His2373=)
c.7094_7095delinsAT (p.His2365=)
c.7154_7155delinsAT (p.His2385=)
17g.31343074T>ACA399015652NF1c.7110T>A (p.His2370Gln)
c.1692T>A (p.His564Gln)
c.1284T>A (p.His428Gln)
n.3773T>A
c.67T>A
c.7158T>A (p.His2386Gln)
c.7128T>A (p.His2376Gln)
c.7065T>A (p.His2355Gln)
c.6063T>A (p.His2021Gln)
c.511T>A
c.7264T>A (n.7264T>A)
c.271T>A
n.370T>A
n.542T>A
c.7119T>A (p.His2373Gln)
c.7095T>A (p.His2365Gln)
c.7155T>A (p.His2385Gln)
17g.31343074T>CCA499236831NF1c.7110T>C (p.His2370=)
c.1692T>C (p.His564=)
c.1284T>C (p.His428=)
n.3773T>C
c.67T>C
c.7158T>C (p.His2386=)
c.7128T>C (p.His2376=)
c.7065T>C (p.His2355=)
c.6063T>C (p.His2021=)
c.511T>C
c.7264T>C (n.7264T>C)
c.271T>C
n.370T>C
n.542T>C
c.7119T>C (p.His2373=)
c.7095T>C (p.His2365=)
c.7155T>C (p.His2385=)
 ClinVar dbSNP
17g.31343074T>GCA399015653NF1c.7110T>G (p.His2370Gln)
c.1692T>G (p.His564Gln)
c.1284T>G (p.His428Gln)
n.3773T>G
c.67T>G
c.7158T>G (p.His2386Gln)
c.7128T>G (p.His2376Gln)
c.7065T>G (p.His2355Gln)
c.6063T>G (p.His2021Gln)
c.511T>G
c.7264T>G (n.7264T>G)
c.271T>G
n.370T>G
n.542T>G
c.7119T>G (p.His2373Gln)
c.7095T>G (p.His2365Gln)
c.7155T>G (p.His2385Gln)
17g.31343074T=CA2255605094NF1c.7110T= (p.His2370=)
c.1692T= (p.His564=)
c.1284T= (p.His428=)
n.3773T=
c.67T=
c.7158T= (p.His2386=)
c.7128T= (p.His2376=)
c.7065T= (p.His2355=)
c.6063T= (p.His2021=)
c.511T=
c.7264T= (n.7264T=)
c.271T=
n.370T=
n.542T=
c.7119T= (p.His2373=)
c.7095T= (p.His2365=)
c.7155T= (p.His2385=)
17g.31343077dupCA1139665465NF1c.7113dup (p.Val2372CysfsTer8)
c.1695dup (p.Val566CysfsTer8)
c.1287dup (p.Val430CysfsTer8)
n.3776dup
c.70dup
c.7161dup (p.Val2388CysfsTer8)
c.7131dup (p.Val2378CysfsTer8)
c.7068dup (p.Val2357CysfsTer8)
c.6066dup (p.Val2023CysfsTer8)
c.514dup
c.7267dup (n.7267dup)
c.274dup
n.373dup
n.545dup
c.7122dup (p.Val2375CysfsTer8)
c.7098dup (p.Val2367CysfsTer8)
c.7158dup (p.Val2387CysfsTer8)
 ClinVar dbSNP
17g.31343077delCA915949803NF1c.7113del (p.Phe2371LeufsTer19)
c.1695del (p.Phe565LeufsTer19)
c.1287del (p.Phe429LeufsTer19)
n.3776del
c.70del
c.7161del (p.Phe2387LeufsTer19)
c.7131del (p.Phe2377LeufsTer19)
c.7068del (p.Phe2356LeufsTer19)
c.6066del (p.Phe2022LeufsTer19)
c.514del
c.7267del (n.7267del)
c.274del
n.373del
n.545del
c.7122del (p.Phe2374LeufsTer19)
c.7098del (p.Phe2366LeufsTer19)
c.7158del (p.Phe2386LeufsTer19)
 ClinVar dbSNP
17g.31343075T>ACA399015654NF1c.7111T>A (p.Phe2371Ile)
c.1693T>A (p.Phe565Ile)
c.1285T>A (p.Phe429Ile)
n.3774T>A
c.68T>A
c.7159T>A (p.Phe2387Ile)
c.7129T>A (p.Phe2377Ile)
c.7066T>A (p.Phe2356Ile)
c.6064T>A (p.Phe2022Ile)
c.512T>A
c.7265T>A (n.7265T>A)
c.272T>A
n.371T>A
n.543T>A
c.7120T>A (p.Phe2374Ile)
c.7096T>A (p.Phe2366Ile)
c.7156T>A (p.Phe2386Ile)
17g.31343075T>CCA399015656NF1c.7111T>C (p.Phe2371Leu)
c.1693T>C (p.Phe565Leu)
c.1285T>C (p.Phe429Leu)
n.3774T>C
c.68T>C
c.7159T>C (p.Phe2387Leu)
c.7129T>C (p.Phe2377Leu)
c.7066T>C (p.Phe2356Leu)
c.6064T>C (p.Phe2022Leu)
c.512T>C
c.7265T>C (n.7265T>C)
c.272T>C
n.371T>C
n.543T>C
c.7120T>C (p.Phe2374Leu)
c.7096T>C (p.Phe2366Leu)
c.7156T>C (p.Phe2386Leu)
17g.31343075T>GCA399015655NF1c.7111T>G (p.Phe2371Val)
c.1693T>G (p.Phe565Val)
c.1285T>G (p.Phe429Val)
n.3774T>G
c.68T>G
c.7159T>G (p.Phe2387Val)
c.7129T>G (p.Phe2377Val)
c.7066T>G (p.Phe2356Val)
c.6064T>G (p.Phe2022Val)
c.512T>G
c.7265T>G (n.7265T>G)
c.272T>G
n.371T>G
n.543T>G
c.7120T>G (p.Phe2374Val)
c.7096T>G (p.Phe2366Val)
c.7156T>G (p.Phe2386Val)
17g.31343076T>ACA399015657NF1c.7112T>A (p.Phe2371Tyr)
c.1694T>A (p.Phe565Tyr)
c.1286T>A (p.Phe429Tyr)
n.3775T>A
c.69T>A
c.7160T>A (p.Phe2387Tyr)
c.7130T>A (p.Phe2377Tyr)
c.7067T>A (p.Phe2356Tyr)
c.6065T>A (p.Phe2022Tyr)
c.513T>A
c.7266T>A (n.7266T>A)
c.273T>A
n.372T>A
n.544T>A
c.7121T>A (p.Phe2374Tyr)
c.7097T>A (p.Phe2366Tyr)
c.7157T>A (p.Phe2386Tyr)
 dbSNP
17g.31343076T>CCA399015658NF1c.7112T>C (p.Phe2371Ser)
c.1694T>C (p.Phe565Ser)
c.1286T>C (p.Phe429Ser)
n.3775T>C
c.69T>C
c.7160T>C (p.Phe2387Ser)
c.7130T>C (p.Phe2377Ser)
c.7067T>C (p.Phe2356Ser)
c.6065T>C (p.Phe2022Ser)
c.513T>C
c.7266T>C (n.7266T>C)
c.273T>C
n.372T>C
n.544T>C
c.7121T>C (p.Phe2374Ser)
c.7097T>C (p.Phe2366Ser)
c.7157T>C (p.Phe2386Ser)
17g.31343076T>GCA399015659NF1c.7112T>G (p.Phe2371Cys)
c.1694T>G (p.Phe565Cys)
c.1286T>G (p.Phe429Cys)
n.3775T>G
c.69T>G
c.7160T>G (p.Phe2387Cys)
c.7130T>G (p.Phe2377Cys)
c.7067T>G (p.Phe2356Cys)
c.6065T>G (p.Phe2022Cys)
c.513T>G
c.7266T>G (n.7266T>G)
c.273T>G
n.372T>G
n.544T>G
c.7121T>G (p.Phe2374Cys)
c.7097T>G (p.Phe2366Cys)
c.7157T>G (p.Phe2386Cys)
17g.31343077T>ACA399015660NF1c.7113T>A (p.Phe2371Leu)
c.1695T>A (p.Phe565Leu)
c.1287T>A (p.Phe429Leu)
n.3776T>A
c.70T>A
c.7161T>A (p.Phe2387Leu)
c.7131T>A (p.Phe2377Leu)
c.7068T>A (p.Phe2356Leu)
c.6066T>A (p.Phe2022Leu)
c.514T>A
c.7267T>A (n.7267T>A)
c.274T>A
n.373T>A
n.545T>A
c.7122T>A (p.Phe2374Leu)
c.7098T>A (p.Phe2366Leu)
c.7158T>A (p.Phe2386Leu)
17g.31343077T>CCA499236832NF1c.7113T>C (p.Phe2371=)
c.1695T>C (p.Phe565=)
c.1287T>C (p.Phe429=)
n.3776T>C
c.70T>C
c.7161T>C (p.Phe2387=)
c.7131T>C (p.Phe2377=)
c.7068T>C (p.Phe2356=)
c.6066T>C (p.Phe2022=)
c.514T>C
c.7267T>C (n.7267T>C)
c.274T>C
n.373T>C
n.545T>C
c.7122T>C (p.Phe2374=)
c.7098T>C (p.Phe2366=)
c.7158T>C (p.Phe2386=)
17g.31343077T>GCA399015661NF1c.7113T>G (p.Phe2371Leu)
c.1695T>G (p.Phe565Leu)
c.1287T>G (p.Phe429Leu)
n.3776T>G
c.70T>G
c.7161T>G (p.Phe2387Leu)
c.7131T>G (p.Phe2377Leu)
c.7068T>G (p.Phe2356Leu)
c.6066T>G (p.Phe2022Leu)
c.514T>G
c.7267T>G (n.7267T>G)
c.274T>G
n.373T>G
n.545T>G
c.7122T>G (p.Phe2374Leu)
c.7098T>G (p.Phe2366Leu)
c.7158T>G (p.Phe2386Leu)
17g.31343078G>ACA399015663NF1c.7114G>A (p.Val2372Ile)
c.1696G>A (p.Val566Ile)
c.1288G>A (p.Val430Ile)
n.3777G>A
c.71G>A
c.7162G>A (p.Val2388Ile)
c.7132G>A (p.Val2378Ile)
c.7069G>A (p.Val2357Ile)
c.6067G>A (p.Val2023Ile)
c.515G>A
c.7268G>A (n.7268G>A)
c.275G>A
n.374G>A
n.546G>A
c.7123G>A (p.Val2375Ile)
c.7099G>A (p.Val2367Ile)
c.7159G>A (p.Val2387Ile)
17g.31343078G>CCA8487501NF1c.7114G>C (p.Val2372Leu)
c.1696G>C (p.Val566Leu)
c.1288G>C (p.Val430Leu)
n.3777G>C
c.71G>C
c.7162G>C (p.Val2388Leu)
c.7132G>C (p.Val2378Leu)
c.7069G>C (p.Val2357Leu)
c.6067G>C (p.Val2023Leu)
c.515G>C
c.7268G>C (n.7268G>C)
c.275G>C
n.374G>C
n.546G>C
c.7123G>C (p.Val2375Leu)
c.7099G>C (p.Val2367Leu)
c.7159G>C (p.Val2387Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343078G=CA2255605095NF1c.7114G= (p.Val2372=)
c.1696G= (p.Val566=)
c.1288G= (p.Val430=)
n.3777G=
c.71G=
c.7162G= (p.Val2388=)
c.7132G= (p.Val2378=)
c.7069G= (p.Val2357=)
c.6067G= (p.Val2023=)
c.515G=
c.7268G= (n.7268G=)
c.275G=
n.374G=
n.546G=
c.7123G= (p.Val2375=)
c.7099G= (p.Val2367=)
c.7159G= (p.Val2387=)
17g.31343078G>TCA399015662NF1c.7114G>T (p.Val2372Phe)
c.1696G>T (p.Val566Phe)
c.1288G>T (p.Val430Phe)
n.3777G>T
c.71G>T
c.7162G>T (p.Val2388Phe)
c.7132G>T (p.Val2378Phe)
c.7069G>T (p.Val2357Phe)
c.6067G>T (p.Val2023Phe)
c.515G>T
c.7268G>T (n.7268G>T)
c.275G>T
n.374G>T
n.546G>T
c.7123G>T (p.Val2375Phe)
c.7099G>T (p.Val2367Phe)
c.7159G>T (p.Val2387Phe)
17g.31343079T>ACA399015664NF1c.7115T>A (p.Val2372Asp)
c.1697T>A (p.Val566Asp)
c.1289T>A (p.Val430Asp)
n.3778T>A
c.72T>A
c.7163T>A (p.Val2388Asp)
c.7133T>A (p.Val2378Asp)
c.7070T>A (p.Val2357Asp)
c.6068T>A (p.Val2023Asp)
c.516T>A
c.7269T>A (n.7269T>A)
c.276T>A
n.375T>A
n.547T>A
c.7124T>A (p.Val2375Asp)
c.7100T>A (p.Val2367Asp)
c.7160T>A (p.Val2387Asp)
 dbSNP
17g.31343079T>CCA399015665NF1c.7115T>C (p.Val2372Ala)
c.1697T>C (p.Val566Ala)
c.1289T>C (p.Val430Ala)
n.3778T>C
c.72T>C
c.7163T>C (p.Val2388Ala)
c.7133T>C (p.Val2378Ala)
c.7070T>C (p.Val2357Ala)
c.6068T>C (p.Val2023Ala)
c.516T>C
c.7269T>C (n.7269T>C)
c.276T>C
n.375T>C
n.547T>C
c.7124T>C (p.Val2375Ala)
c.7100T>C (p.Val2367Ala)
c.7160T>C (p.Val2387Ala)
17g.31343079T>GCA399015666NF1c.7115T>G (p.Val2372Gly)
c.1697T>G (p.Val566Gly)
c.1289T>G (p.Val430Gly)
n.3778T>G
c.72T>G
c.7163T>G (p.Val2388Gly)
c.7133T>G (p.Val2378Gly)
c.7070T>G (p.Val2357Gly)
c.6068T>G (p.Val2023Gly)
c.516T>G
c.7269T>G (n.7269T>G)
c.276T>G
n.375T>G
n.547T>G
c.7124T>G (p.Val2375Gly)
c.7100T>G (p.Val2367Gly)
c.7160T>G (p.Val2387Gly)
17g.31343080T>ACA499236833NF1c.7116T>A (p.Val2372=)
c.1698T>A (p.Val566=)
c.1290T>A (p.Val430=)
n.3779T>A
c.73T>A
c.7164T>A (p.Val2388=)
c.7134T>A (p.Val2378=)
c.7071T>A (p.Val2357=)
c.6069T>A (p.Val2023=)
c.517T>A
c.7270T>A (n.7270T>A)
c.277T>A
n.376T>A
n.548T>A
c.7125T>A (p.Val2375=)
c.7101T>A (p.Val2367=)
c.7161T>A (p.Val2387=)
17g.31343080T>CCA499236834NF1c.7116T>C (p.Val2372=)
c.1698T>C (p.Val566=)
c.1290T>C (p.Val430=)
n.3779T>C
c.73T>C
c.7164T>C (p.Val2388=)
c.7134T>C (p.Val2378=)
c.7071T>C (p.Val2357=)
c.6069T>C (p.Val2023=)
c.517T>C
c.7270T>C (n.7270T>C)
c.277T>C
n.376T>C
n.548T>C
c.7125T>C (p.Val2375=)
c.7101T>C (p.Val2367=)
c.7161T>C (p.Val2387=)
17g.31343080T>GCA499236835NF1c.7116T>G (p.Val2372=)
c.1698T>G (p.Val566=)
c.1290T>G (p.Val430=)
n.3779T>G
c.73T>G
c.7164T>G (p.Val2388=)
c.7134T>G (p.Val2378=)
c.7071T>G (p.Val2357=)
c.6069T>G (p.Val2023=)
c.517T>G
c.7270T>G (n.7270T>G)
c.277T>G
n.376T>G
n.548T>G
c.7125T>G (p.Val2375=)
c.7101T>G (p.Val2367=)
c.7161T>G (p.Val2387=)
 ClinVar dbSNP
17g.31343080T=CA2255605096NF1c.7116T= (p.Val2372=)
c.1698T= (p.Val566=)
c.1290T= (p.Val430=)
n.3779T=
c.73T=
c.7164T= (p.Val2388=)
c.7134T= (p.Val2378=)
c.7071T= (p.Val2357=)
c.6069T= (p.Val2023=)
c.517T=
c.7270T= (n.7270T=)
c.277T=
n.376T=
n.548T=
c.7125T= (p.Val2375=)
c.7101T= (p.Val2367=)
c.7161T= (p.Val2387=)
17g.31343081G>ACA8487502NF1c.7117G>A (p.Gly2373Arg)
c.1699G>A (p.Gly567Arg)
c.1291G>A (p.Gly431Arg)
n.3780G>A
c.74G>A
c.7165G>A (p.Gly2389Arg)
c.7135G>A (p.Gly2379Arg)
c.7072G>A (p.Gly2358Arg)
c.6070G>A (p.Gly2024Arg)
c.518G>A
c.7271G>A (n.7271G>A)
c.278G>A
n.377G>A
n.549G>A
c.7126G>A (p.Gly2376Arg)
c.7102G>A (p.Gly2368Arg)
c.7162G>A (p.Gly2388Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31343081G>CCA399015667NF1c.7117G>C (p.Gly2373Arg)
c.1699G>C (p.Gly567Arg)
c.1291G>C (p.Gly431Arg)
n.3780G>C
c.74G>C
c.7165G>C (p.Gly2389Arg)
c.7135G>C (p.Gly2379Arg)
c.7072G>C (p.Gly2358Arg)
c.6070G>C (p.Gly2024Arg)
c.518G>C
c.7271G>C (n.7271G>C)
c.278G>C
n.377G>C
n.549G>C
c.7126G>C (p.Gly2376Arg)
c.7102G>C (p.Gly2368Arg)
c.7162G>C (p.Gly2388Arg)
 dbSNP
17g.31343081G=CA2255605097NF1c.7117G= (p.Gly2373=)
c.1699G= (p.Gly567=)
c.1291G= (p.Gly431=)
n.3780G=
c.74G=
c.7165G= (p.Gly2389=)
c.7135G= (p.Gly2379=)
c.7072G= (p.Gly2358=)
c.6070G= (p.Gly2024=)
c.518G=
c.7271G= (n.7271G=)
c.278G=
n.377G=
n.549G=
c.7126G= (p.Gly2376=)
c.7102G= (p.Gly2368=)
c.7162G= (p.Gly2388=)
17g.31343081G>TCA399015668NF1c.7117G>T (p.Gly2373Ter)
c.1699G>T (p.Gly567Ter)
c.1291G>T (p.Gly431Ter)
n.3780G>T
c.74G>T
c.7165G>T (p.Gly2389Ter)
c.7135G>T (p.Gly2379Ter)
c.7072G>T (p.Gly2358Ter)
c.6070G>T (p.Gly2024Ter)
c.518G>T
c.7271G>T (n.7271G>T)
c.278G>T
n.377G>T
n.549G>T
c.7126G>T (p.Gly2376Ter)
c.7102G>T (p.Gly2368Ter)
c.7162G>T (p.Gly2388Ter)
 ClinVar dbSNP
17g.31343082delCA2733617044NF1c.7118del (p.Gly2373AspfsTer17)
c.1700del (p.Gly567AspfsTer17)
c.1292del (p.Gly431AspfsTer17)
n.3781del
c.75del
c.7166del (p.Gly2389AspfsTer17)
c.7136del (p.Gly2379AspfsTer17)
c.7073del (p.Gly2358AspfsTer17)
c.6071del (p.Gly2024AspfsTer17)
c.519del
c.7272del (n.7272del)
c.279del
n.378del
n.550del
c.7127del (p.Gly2376AspfsTer17)
c.7103del (p.Gly2368AspfsTer17)
c.7163del (p.Gly2388AspfsTer17)
 dbSNP
17g.31343082G>ACA399015671NF1c.7118G>A (p.Gly2373Glu)
c.1700G>A (p.Gly567Glu)
c.1292G>A (p.Gly431Glu)
n.3781G>A
c.75G>A
c.7166G>A (p.Gly2389Glu)
c.7136G>A (p.Gly2379Glu)
c.7073G>A (p.Gly2358Glu)
c.6071G>A (p.Gly2024Glu)
c.519G>A
c.7272G>A (n.7272G>A)
c.279G>A
n.378G>A
n.550G>A
c.7127G>A (p.Gly2376Glu)
c.7103G>A (p.Gly2368Glu)
c.7163G>A (p.Gly2388Glu)
 dbSNP
17g.31343082G>CCA399015669NF1c.7118G>C (p.Gly2373Ala)
c.1700G>C (p.Gly567Ala)
c.1292G>C (p.Gly431Ala)
n.3781G>C
c.75G>C
c.7166G>C (p.Gly2389Ala)
c.7136G>C (p.Gly2379Ala)
c.7073G>C (p.Gly2358Ala)
c.6071G>C (p.Gly2024Ala)
c.519G>C
c.7272G>C (n.7272G>C)
c.279G>C
n.378G>C
n.550G>C
c.7127G>C (p.Gly2376Ala)
c.7103G>C (p.Gly2368Ala)
c.7163G>C (p.Gly2388Ala)
 dbSNP
17g.31343082G>TCA399015670NF1c.7118G>T (p.Gly2373Val)
c.1700G>T (p.Gly567Val)
c.1292G>T (p.Gly431Val)
n.3781G>T
c.75G>T
c.7166G>T (p.Gly2389Val)
c.7136G>T (p.Gly2379Val)
c.7073G>T (p.Gly2358Val)
c.6071G>T (p.Gly2024Val)
c.519G>T
c.7272G>T (n.7272G>T)
c.279G>T
n.378G>T
n.550G>T
c.7127G>T (p.Gly2376Val)
c.7103G>T (p.Gly2368Val)
c.7163G>T (p.Gly2388Val)
 dbSNP
17g.31343083A>CCA499236836NF1c.7119A>C (p.Gly2373=)
c.1701A>C (p.Gly567=)
c.1293A>C (p.Gly431=)
n.3782A>C
c.76A>C
c.7167A>C (p.Gly2389=)
c.7137A>C (p.Gly2379=)
c.7074A>C (p.Gly2358=)
c.6072A>C (p.Gly2024=)
c.520A>C
c.7273A>C (n.7273A>C)
c.280A>C
n.379A>C
n.551A>C
c.7128A>C (p.Gly2376=)
c.7104A>C (p.Gly2368=)
c.7164A>C (p.Gly2388=)
17g.31343083A>GCA499236838NF1c.7119A>G (p.Gly2373=)
c.1701A>G (p.Gly567=)
c.1293A>G (p.Gly431=)
n.3782A>G
c.76A>G
c.7167A>G (p.Gly2389=)
c.7137A>G (p.Gly2379=)
c.7074A>G (p.Gly2358=)
c.6072A>G (p.Gly2024=)
c.520A>G
c.7273A>G (n.7273A>G)
c.280A>G
n.379A>G
n.551A>G
c.7128A>G (p.Gly2376=)
c.7104A>G (p.Gly2368=)
c.7164A>G (p.Gly2388=)
17g.31343083A>TCA499236837NF1c.7119A>T (p.Gly2373=)
c.1701A>T (p.Gly567=)
c.1293A>T (p.Gly431=)
n.3782A>T
c.76A>T
c.7167A>T (p.Gly2389=)
c.7137A>T (p.Gly2379=)
c.7074A>T (p.Gly2358=)
c.6072A>T (p.Gly2024=)
c.520A>T
c.7273A>T (n.7273A>T)
c.280A>T
n.379A>T
n.551A>T
c.7128A>T (p.Gly2376=)
c.7104A>T (p.Gly2368=)
c.7164A>T (p.Gly2388=)
 dbSNP
17g.31343084C>ACA399015672NF1c.7120C>A (p.Leu2374Ile)
c.1702C>A (p.Leu568Ile)
c.1294C>A (p.Leu432Ile)
n.3783C>A
c.77C>A
c.7168C>A (p.Leu2390Ile)
c.7138C>A (p.Leu2380Ile)
c.7075C>A (p.Leu2359Ile)
c.6073C>A (p.Leu2025Ile)
c.521C>A
c.7274C>A (n.7274C>A)
c.281C>A
n.380C>A
n.552C>A
c.7129C>A (p.Leu2377Ile)
c.7105C>A (p.Leu2369Ile)
c.7165C>A (p.Leu2389Ile)
17g.31343084C=CA2255605098NF1c.7120C= (p.Leu2374=)
c.1702C= (p.Leu568=)
c.1294C= (p.Leu432=)
n.3783C=
c.77C=
c.7168C= (p.Leu2390=)
c.7138C= (p.Leu2380=)
c.7075C= (p.Leu2359=)
c.6073C= (p.Leu2025=)
c.521C=
c.7274C= (n.7274C=)
c.281C=
n.380C=
n.552C=
c.7129C= (p.Leu2377=)
c.7105C= (p.Leu2369=)
c.7165C= (p.Leu2389=)
17g.31343084C>GCA399015673NF1c.7120C>G (p.Leu2374Val)
c.1702C>G (p.Leu568Val)
c.1294C>G (p.Leu432Val)
n.3783C>G
c.77C>G
c.7168C>G (p.Leu2390Val)
c.7138C>G (p.Leu2380Val)
c.7075C>G (p.Leu2359Val)
c.6073C>G (p.Leu2025Val)
c.521C>G
c.7274C>G (n.7274C>G)
c.281C>G
n.380C>G
n.552C>G
c.7129C>G (p.Leu2377Val)
c.7105C>G (p.Leu2369Val)
c.7165C>G (p.Leu2389Val)
 dbSNP gnomAD v4
17g.31343084C>TCA399015674NF1c.7120C>T (p.Leu2374Phe)
c.1702C>T (p.Leu568Phe)
c.1294C>T (p.Leu432Phe)
n.3783C>T
c.77C>T
c.7168C>T (p.Leu2390Phe)
c.7138C>T (p.Leu2380Phe)
c.7075C>T (p.Leu2359Phe)
c.6073C>T (p.Leu2025Phe)
c.521C>T
c.7274C>T (n.7274C>T)
c.281C>T
n.380C>T
n.552C>T
c.7129C>T (p.Leu2377Phe)
c.7105C>T (p.Leu2369Phe)
c.7165C>T (p.Leu2389Phe)
 ClinVar dbSNP
17g.31343085T>ACA399015675NF1c.7121T>A (p.Leu2374His)
c.1703T>A (p.Leu568His)
c.1295T>A (p.Leu432His)
n.3784T>A
c.78T>A
c.7169T>A (p.Leu2390His)
c.7139T>A (p.Leu2380His)
c.7076T>A (p.Leu2359His)
c.6074T>A (p.Leu2025His)
c.522T>A
c.7275T>A (n.7275T>A)
c.282T>A
n.381T>A
n.553T>A
c.7130T>A (p.Leu2377His)
c.7106T>A (p.Leu2369His)
c.7166T>A (p.Leu2389His)
 dbSNP
17g.31343085T>CCA399015676NF1c.7121T>C (p.Leu2374Pro)
c.1703T>C (p.Leu568Pro)
c.1295T>C (p.Leu432Pro)
n.3784T>C
c.78T>C
c.7169T>C (p.Leu2390Pro)
c.7139T>C (p.Leu2380Pro)
c.7076T>C (p.Leu2359Pro)
c.6074T>C (p.Leu2025Pro)
c.522T>C
c.7275T>C (n.7275T>C)
c.282T>C
n.381T>C
n.553T>C
c.7130T>C (p.Leu2377Pro)
c.7106T>C (p.Leu2369Pro)
c.7166T>C (p.Leu2389Pro)
 ClinVar dbSNP
17g.31343085T>GCA399015677NF1c.7121T>G (p.Leu2374Arg)
c.1703T>G (p.Leu568Arg)
c.1295T>G (p.Leu432Arg)
n.3784T>G
c.78T>G
c.7169T>G (p.Leu2390Arg)
c.7139T>G (p.Leu2380Arg)
c.7076T>G (p.Leu2359Arg)
c.6074T>G (p.Leu2025Arg)
c.522T>G
c.7275T>G (n.7275T>G)
c.282T>G
n.381T>G
n.553T>G
c.7130T>G (p.Leu2377Arg)
c.7106T>G (p.Leu2369Arg)
c.7166T>G (p.Leu2389Arg)
 COSMIC COSMIC
17g.31343085T=CA2255605099NF1c.7121T= (p.Leu2374=)
c.1703T= (p.Leu568=)
c.1295T= (p.Leu432=)
n.3784T=
c.78T=
c.7169T= (p.Leu2390=)
c.7139T= (p.Leu2380=)
c.7076T= (p.Leu2359=)
c.6074T= (p.Leu2025=)
c.522T=
c.7275T= (n.7275T=)
c.282T=
n.381T=
n.553T=
c.7130T= (p.Leu2377=)
c.7106T= (p.Leu2369=)
c.7166T= (p.Leu2389=)
17g.31343086C>ACA499236839NF1c.7122C>A (p.Leu2374=)
c.1704C>A (p.Leu568=)
c.1296C>A (p.Leu432=)
n.3785C>A
c.79C>A
c.7170C>A (p.Leu2390=)
c.7140C>A (p.Leu2380=)
c.7077C>A (p.Leu2359=)
c.6075C>A (p.Leu2025=)
c.523C>A
c.7276C>A (n.7276C>A)
c.283C>A
n.382C>A
n.554C>A
c.7131C>A (p.Leu2377=)
c.7107C>A (p.Leu2369=)
c.7167C>A (p.Leu2389=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31343086C=CA2255605100NF1c.7122C= (p.Leu2374=)
c.1704C= (p.Leu568=)
c.1296C= (p.Leu432=)
n.3785C=
c.79C=
c.7170C= (p.Leu2390=)
c.7140C= (p.Leu2380=)
c.7077C= (p.Leu2359=)
c.6075C= (p.Leu2025=)
c.523C=
c.7276C= (n.7276C=)
c.283C=
n.382C=
n.554C=
c.7131C= (p.Leu2377=)
c.7107C= (p.Leu2369=)
c.7167C= (p.Leu2389=)
17g.31343086C>GCA499236840NF1c.7122C>G (p.Leu2374=)
c.1704C>G (p.Leu568=)
c.1296C>G (p.Leu432=)
n.3785C>G
c.79C>G
c.7170C>G (p.Leu2390=)
c.7140C>G (p.Leu2380=)
c.7077C>G (p.Leu2359=)
c.6075C>G (p.Leu2025=)
c.523C>G
c.7276C>G (n.7276C>G)
c.283C>G
n.382C>G
n.554C>G
c.7131C>G (p.Leu2377=)
c.7107C>G (p.Leu2369=)
c.7167C>G (p.Leu2389=)
 ClinVar dbSNP gnomAD v4
17g.31343086C>TCA499236841NF1c.7122C>T (p.Leu2374=)
c.1704C>T (p.Leu568=)
c.1296C>T (p.Leu432=)
n.3785C>T
c.79C>T
c.7170C>T (p.Leu2390=)
c.7140C>T (p.Leu2380=)
c.7077C>T (p.Leu2359=)
c.6075C>T (p.Leu2025=)
c.523C>T
c.7276C>T (n.7276C>T)
c.283C>T
n.382C>T
n.554C>T
c.7131C>T (p.Leu2377=)
c.7107C>T (p.Leu2369=)
c.7167C>T (p.Leu2389=)
 dbSNP
17g.31343087A>CCA399015678NF1c.7123A>C (p.Asn2375His)
c.1705A>C (p.Asn569His)
c.1297A>C (p.Asn433His)
n.3786A>C
c.80A>C
c.7171A>C (p.Asn2391His)
c.7141A>C (p.Asn2381His)
c.7078A>C (p.Asn2360His)
c.6076A>C (p.Asn2026His)
c.524A>C
c.7277A>C (n.7277A>C)
c.284A>C
n.383A>C
n.555A>C
c.7132A>C (p.Asn2378His)
c.7108A>C (p.Asn2370His)
c.7168A>C (p.Asn2390His)
17g.31343087A>GCA399015679NF1c.7123A>G (p.Asn2375Asp)
c.1705A>G (p.Asn569Asp)
c.1297A>G (p.Asn433Asp)
n.3786A>G
c.80A>G
c.7171A>G (p.Asn2391Asp)
c.7141A>G (p.Asn2381Asp)
c.7078A>G (p.Asn2360Asp)
c.6076A>G (p.Asn2026Asp)
c.524A>G
c.7277A>G (n.7277A>G)
c.284A>G
n.383A>G
n.555A>G
c.7132A>G (p.Asn2378Asp)
c.7108A>G (p.Asn2370Asp)
c.7168A>G (p.Asn2390Asp)
17g.31343087A>TCA399015680NF1c.7123A>T (p.Asn2375Tyr)
c.1705A>T (p.Asn569Tyr)
c.1297A>T (p.Asn433Tyr)
n.3786A>T
c.80A>T
c.7171A>T (p.Asn2391Tyr)
c.7141A>T (p.Asn2381Tyr)
c.7078A>T (p.Asn2360Tyr)
c.6076A>T (p.Asn2026Tyr)
c.524A>T
c.7277A>T (n.7277A>T)
c.284A>T
n.383A>T
n.555A>T
c.7132A>T (p.Asn2378Tyr)
c.7108A>T (p.Asn2370Tyr)
c.7168A>T (p.Asn2390Tyr)
17g.31343088dupCA916080695NF1c.7124dup (p.Asn2375LysfsTer5)
c.1706dup (p.Asn569LysfsTer5)
c.1298dup (p.Asn433LysfsTer5)
n.3787dup
c.81dup
c.7172dup (p.Asn2391LysfsTer5)
c.7142dup (p.Asn2381LysfsTer5)
c.7079dup (p.Asn2360LysfsTer5)
c.6077dup (p.Asn2026LysfsTer5)
c.525dup
c.7278dup (n.7278dup)
c.285dup
n.384dup
n.556dup
c.7133dup (p.Asn2378LysfsTer5)
c.7109dup (p.Asn2370LysfsTer5)
c.7169dup (p.Asn2390LysfsTer5)
 ClinVar dbSNP
17g.31343088A=CA2255605101NF1c.7124A= (p.Asn2375=)
c.1706A= (p.Asn569=)
c.1298A= (p.Asn433=)
n.3787A=
c.81A=
c.7172A= (p.Asn2391=)
c.7142A= (p.Asn2381=)
c.7079A= (p.Asn2360=)
c.6077A= (p.Asn2026=)
c.525A=
c.7278A= (n.7278A=)
c.285A=
n.384A=
n.556A=
c.7133A= (p.Asn2378=)
c.7109A= (p.Asn2370=)
c.7169A= (p.Asn2390=)
17g.31343088A>CCA399015681NF1c.7124A>C (p.Asn2375Thr)
c.1706A>C (p.Asn569Thr)
c.1298A>C (p.Asn433Thr)
n.3787A>C
c.81A>C
c.7172A>C (p.Asn2391Thr)
c.7142A>C (p.Asn2381Thr)
c.7079A>C (p.Asn2360Thr)
c.6077A>C (p.Asn2026Thr)
c.525A>C
c.7278A>C (n.7278A>C)
c.285A>C
n.384A>C
n.556A>C
c.7133A>C (p.Asn2378Thr)
c.7109A>C (p.Asn2370Thr)
c.7169A>C (p.Asn2390Thr)
17g.31343088A>GCA10583521NF1c.7124A>G (p.Asn2375Ser)
c.1706A>G (p.Asn569Ser)
c.1298A>G (p.Asn433Ser)
n.3787A>G
c.81A>G
c.7172A>G (p.Asn2391Ser)
c.7142A>G (p.Asn2381Ser)
c.7079A>G (p.Asn2360Ser)
c.6077A>G (p.Asn2026Ser)
c.525A>G
c.7278A>G (n.7278A>G)
c.285A>G
n.384A>G
n.556A>G
c.7133A>G (p.Asn2378Ser)
c.7109A>G (p.Asn2370Ser)
c.7169A>G (p.Asn2390Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31343088A>TCA399015682NF1c.7124A>T (p.Asn2375Ile)
c.1706A>T (p.Asn569Ile)
c.1298A>T (p.Asn433Ile)
n.3787A>T
c.81A>T
c.7172A>T (p.Asn2391Ile)
c.7142A>T (p.Asn2381Ile)
c.7079A>T (p.Asn2360Ile)
c.6077A>T (p.Asn2026Ile)
c.525A>T
c.7278A>T (n.7278A>T)
c.285A>T
n.384A>T
n.556A>T
c.7133A>T (p.Asn2378Ile)
c.7109A>T (p.Asn2370Ile)
c.7169A>T (p.Asn2390Ile)
 dbSNP
17g.31343089T>ACA399015683NF1c.7125T>A (p.Asn2375Lys)
c.1707T>A (p.Asn569Lys)
c.1299T>A (p.Asn433Lys)
n.3788T>A
c.82T>A
c.7173T>A (p.Asn2391Lys)
c.7143T>A (p.Asn2381Lys)
c.7080T>A (p.Asn2360Lys)
c.6078T>A (p.Asn2026Lys)
c.526T>A
c.7279T>A (n.7279T>A)
c.286T>A
n.385T>A
n.557T>A
c.7134T>A (p.Asn2378Lys)
c.7110T>A (p.Asn2370Lys)
c.7170T>A (p.Asn2390Lys)
 dbSNP
17g.31343089T>CCA8487503NF1c.7125T>C (p.Asn2375=)
c.1707T>C (p.Asn569=)
c.1299T>C (p.Asn433=)
n.3788T>C
c.82T>C
c.7173T>C (p.Asn2391=)
c.7143T>C (p.Asn2381=)
c.7080T>C (p.Asn2360=)
c.6078T>C (p.Asn2026=)
c.526T>C
c.7279T>C (n.7279T>C)
c.286T>C
n.385T>C
n.557T>C
c.7134T>C (p.Asn2378=)
c.7110T>C (p.Asn2370=)
c.7170T>C (p.Asn2390=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343089T>GCA399015684NF1c.7125T>G (p.Asn2375Lys)
c.1707T>G (p.Asn569Lys)
c.1299T>G (p.Asn433Lys)
n.3788T>G
c.82T>G
c.7173T>G (p.Asn2391Lys)
c.7143T>G (p.Asn2381Lys)
c.7080T>G (p.Asn2360Lys)
c.6078T>G (p.Asn2026Lys)
c.526T>G
c.7279T>G (n.7279T>G)
c.286T>G
n.385T>G
n.557T>G
c.7134T>G (p.Asn2378Lys)
c.7110T>G (p.Asn2370Lys)
c.7170T>G (p.Asn2390Lys)
17g.31343089T=CA2255605102NF1c.7125T= (p.Asn2375=)
c.1707T= (p.Asn569=)
c.1299T= (p.Asn433=)
n.3788T=
c.82T=
c.7173T= (p.Asn2391=)
c.7143T= (p.Asn2381=)
c.7080T= (p.Asn2360=)
c.6078T= (p.Asn2026=)
c.526T=
c.7279T= (n.7279T=)
c.286T=
n.385T=
n.557T=
c.7134T= (p.Asn2378=)
c.7110T= (p.Asn2370=)
c.7170T= (p.Asn2390=)
17g.31343091delCA2573153905NF1c.7127del (p.Phe2376SerfsTer14)
c.1709del (p.Phe570SerfsTer14)
c.1301del (p.Phe434SerfsTer14)
n.3790del
c.84del
c.7175del (p.Phe2392SerfsTer14)
c.7145del (p.Phe2382SerfsTer14)
c.7082del (p.Phe2361SerfsTer14)
c.6080del (p.Phe2027SerfsTer14)
c.528del
c.7281del (n.7281del)
c.288del
n.387del
n.559del
c.7136del (p.Phe2379SerfsTer14)
c.7112del (p.Phe2371SerfsTer14)
c.7172del (p.Phe2391SerfsTer14)
 ClinVar dbSNP
17g.31343089_31343090insACA2695225448NF1c.7125_7126insA (p.Phe2376IlefsTer4)
c.1707_1708insA (p.Phe570IlefsTer4)
c.1299_1300insA (p.Phe434IlefsTer4)
n.3788_3789insA
c.82_83insA
c.7173_7174insA (p.Phe2392IlefsTer4)
c.7143_7144insA (p.Phe2382IlefsTer4)
c.7080_7081insA (p.Phe2361IlefsTer4)
c.6078_6079insA (p.Phe2027IlefsTer4)
c.526_527insA
c.7279_7280insA (n.7279_7280insA)
c.286_287insA
n.385_386insA
n.557_558insA
c.7134_7135insA (p.Phe2379IlefsTer4)
c.7110_7111insA (p.Phe2371IlefsTer4)
c.7170_7171insA (p.Phe2391IlefsTer4)
17g.31343090T>ACA399015685NF1c.7126T>A (p.Phe2376Ile)
c.1708T>A (p.Phe570Ile)
c.1300T>A (p.Phe434Ile)
n.3789T>A
c.83T>A
c.7174T>A (p.Phe2392Ile)
c.7144T>A (p.Phe2382Ile)
c.7081T>A (p.Phe2361Ile)
c.6079T>A (p.Phe2027Ile)
c.527T>A
c.7280T>A (n.7280T>A)
c.287T>A
n.386T>A
n.558T>A
c.7135T>A (p.Phe2379Ile)
c.7111T>A (p.Phe2371Ile)
c.7171T>A (p.Phe2391Ile)
 ClinVar dbSNP
17g.31343090T>CCA399015686NF1c.7126T>C (p.Phe2376Leu)
c.1708T>C (p.Phe570Leu)
c.1300T>C (p.Phe434Leu)
n.3789T>C
c.83T>C
c.7174T>C (p.Phe2392Leu)
c.7144T>C (p.Phe2382Leu)
c.7081T>C (p.Phe2361Leu)
c.6079T>C (p.Phe2027Leu)
c.527T>C
c.7280T>C (n.7280T>C)
c.287T>C
n.386T>C
n.558T>C
c.7135T>C (p.Phe2379Leu)
c.7111T>C (p.Phe2371Leu)
c.7171T>C (p.Phe2391Leu)
 dbSNP
17g.31343090T>GCA399015687NF1c.7126T>G (p.Phe2376Val)
c.1708T>G (p.Phe570Val)
c.1300T>G (p.Phe434Val)
n.3789T>G
c.83T>G
c.7174T>G (p.Phe2392Val)
c.7144T>G (p.Phe2382Val)
c.7081T>G (p.Phe2361Val)
c.6079T>G (p.Phe2027Val)
c.527T>G
c.7280T>G (n.7280T>G)
c.287T>G
n.386T>G
n.558T>G
c.7135T>G (p.Phe2379Val)
c.7111T>G (p.Phe2371Val)
c.7171T>G (p.Phe2391Val)
17g.31343090T=CA2255605103NF1c.7126T= (p.Phe2376=)
c.1708T= (p.Phe570=)
c.1300T= (p.Phe434=)
n.3789T=
c.83T=
c.7174T= (p.Phe2392=)
c.7144T= (p.Phe2382=)
c.7081T= (p.Phe2361=)
c.6079T= (p.Phe2027=)
c.527T=
c.7280T= (n.7280T=)
c.287T=
n.386T=
n.558T=
c.7135T= (p.Phe2379=)
c.7111T= (p.Phe2371=)
c.7171T= (p.Phe2391=)
17g.31343091T>ACA399015688NF1c.7127T>A (p.Phe2376Tyr)
c.1709T>A (p.Phe570Tyr)
c.1301T>A (p.Phe434Tyr)
n.3790T>A
c.84T>A
c.7175T>A (p.Phe2392Tyr)
c.7145T>A (p.Phe2382Tyr)
c.7082T>A (p.Phe2361Tyr)
c.6080T>A (p.Phe2027Tyr)
c.528T>A
c.7281T>A (n.7281T>A)
c.288T>A
n.387T>A
n.559T>A
c.7136T>A (p.Phe2379Tyr)
c.7112T>A (p.Phe2371Tyr)
c.7172T>A (p.Phe2391Tyr)
 dbSNP
17g.31343091T>CCA399015689NF1c.7127T>C (p.Phe2376Ser)
c.1709T>C (p.Phe570Ser)
c.1301T>C (p.Phe434Ser)
n.3790T>C
c.84T>C
c.7175T>C (p.Phe2392Ser)
c.7145T>C (p.Phe2382Ser)
c.7082T>C (p.Phe2361Ser)
c.6080T>C (p.Phe2027Ser)
c.528T>C
c.7281T>C (n.7281T>C)
c.288T>C
n.387T>C
n.559T>C
c.7136T>C (p.Phe2379Ser)
c.7112T>C (p.Phe2371Ser)
c.7172T>C (p.Phe2391Ser)
17g.31343091T>GCA399015690NF1c.7127T>G (p.Phe2376Cys)
c.1709T>G (p.Phe570Cys)
c.1301T>G (p.Phe434Cys)
n.3790T>G
c.84T>G
c.7175T>G (p.Phe2392Cys)
c.7145T>G (p.Phe2382Cys)
c.7082T>G (p.Phe2361Cys)
c.6080T>G (p.Phe2027Cys)
c.528T>G
c.7281T>G (n.7281T>G)
c.288T>G
n.387T>G
n.559T>G
c.7136T>G (p.Phe2379Cys)
c.7112T>G (p.Phe2371Cys)
c.7172T>G (p.Phe2391Cys)
17g.31343092C>ACA399015691NF1c.7128C>A (p.Phe2376Leu)
c.1710C>A (p.Phe570Leu)
c.1302C>A (p.Phe434Leu)
n.3791C>A
c.85C>A
c.7176C>A (p.Phe2392Leu)
c.7146C>A (p.Phe2382Leu)
c.7083C>A (p.Phe2361Leu)
c.6081C>A (p.Phe2027Leu)
c.529C>A
c.7282C>A (n.7282C>A)
c.289C>A
n.388C>A
n.560C>A
c.7137C>A (p.Phe2379Leu)
c.7113C>A (p.Phe2371Leu)
c.7173C>A (p.Phe2391Leu)
17g.31343092C>GCA399015692NF1c.7128C>G (p.Phe2376Leu)
c.1710C>G (p.Phe570Leu)
c.1302C>G (p.Phe434Leu)
n.3791C>G
c.85C>G
c.7176C>G (p.Phe2392Leu)
c.7146C>G (p.Phe2382Leu)
c.7083C>G (p.Phe2361Leu)
c.6081C>G (p.Phe2027Leu)
c.529C>G
c.7282C>G (n.7282C>G)
c.289C>G
n.388C>G
n.560C>G
c.7137C>G (p.Phe2379Leu)
c.7113C>G (p.Phe2371Leu)
c.7173C>G (p.Phe2391Leu)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31343092C>TCA499236842NF1c.7128C>T (p.Phe2376=)
c.1710C>T (p.Phe570=)
c.1302C>T (p.Phe434=)
n.3791C>T
c.85C>T
c.7176C>T (p.Phe2392=)
c.7146C>T (p.Phe2382=)
c.7083C>T (p.Phe2361=)
c.6081C>T (p.Phe2027=)
c.529C>T
c.7282C>T (n.7282C>T)
c.289C>T
n.388C>T
n.560C>T
c.7137C>T (p.Phe2379=)
c.7113C>T (p.Phe2371=)
c.7173C>T (p.Phe2391=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31343093A>CCA399015693NF1c.7129A>C (p.Asn2377His)
c.1711A>C (p.Asn571His)
c.1303A>C (p.Asn435His)
n.3792A>C
c.86A>C
c.7177A>C (p.Asn2393His)
c.7147A>C (p.Asn2383His)
c.7084A>C (p.Asn2362His)
c.6082A>C (p.Asn2028His)
c.530A>C
c.7283A>C (n.7283A>C)
c.290A>C
n.389A>C
n.561A>C
c.7138A>C (p.Asn2380His)
c.7114A>C (p.Asn2372His)
c.7174A>C (p.Asn2392His)
 dbSNP
17g.31343093A>GCA399015694NF1c.7129A>G (p.Asn2377Asp)
c.1711A>G (p.Asn571Asp)
c.1303A>G (p.Asn435Asp)
n.3792A>G
c.86A>G
c.7177A>G (p.Asn2393Asp)
c.7147A>G (p.Asn2383Asp)
c.7084A>G (p.Asn2362Asp)
c.6082A>G (p.Asn2028Asp)
c.530A>G
c.7283A>G (n.7283A>G)
c.290A>G
n.389A>G
n.561A>G
c.7138A>G (p.Asn2380Asp)
c.7114A>G (p.Asn2372Asp)
c.7174A>G (p.Asn2392Asp)
17g.31343093A>TCA399015695NF1c.7129A>T (p.Asn2377Tyr)
c.1711A>T (p.Asn571Tyr)
c.1303A>T (p.Asn435Tyr)
n.3792A>T
c.86A>T
c.7177A>T (p.Asn2393Tyr)
c.7147A>T (p.Asn2383Tyr)
c.7084A>T (p.Asn2362Tyr)
c.6082A>T (p.Asn2028Tyr)
c.530A>T
c.7283A>T (n.7283A>T)
c.290A>T
n.389A>T
n.561A>T
c.7138A>T (p.Asn2380Tyr)
c.7114A>T (p.Asn2372Tyr)
c.7174A>T (p.Asn2392Tyr)
 dbSNP
17g.31343093_31343094insGACA658761008NF1c.7129_7130insGA (p.Asn2377ArgfsTer14)
c.1711_1712insGA (p.Asn571ArgfsTer14)
c.1303_1304insGA (p.Asn435ArgfsTer14)
n.3792_3793insGA
c.86_87insGA
c.7177_7178insGA (p.Asn2393ArgfsTer14)
c.7147_7148insGA (p.Asn2383ArgfsTer14)
c.7084_7085insGA (p.Asn2362ArgfsTer14)
c.6082_6083insGA (p.Asn2028ArgfsTer14)
c.530_531insGA
c.7283_7284insGA (n.7283_7284insGA)
c.290_291insGA
n.389_390insGA
n.561_562insGA
c.7138_7139insGA (p.Asn2380ArgfsTer14)
c.7114_7115insGA (p.Asn2372ArgfsTer14)
c.7174_7175insGA (p.Asn2392ArgfsTer14)
17g.31343094delCA2695225449NF1c.7130del (p.Asn2377ThrfsTer13)
c.1712del (p.Asn571ThrfsTer13)
c.1304del (p.Asn435ThrfsTer13)
n.3793del
c.87del
c.7178del (p.Asn2393ThrfsTer13)
c.7148del (p.Asn2383ThrfsTer13)
c.7085del (p.Asn2362ThrfsTer13)
c.6083del (p.Asn2028ThrfsTer13)
c.531del
c.7284del (n.7284del)
c.291del
n.390del
n.562del
c.7139del (p.Asn2380ThrfsTer13)
c.7115del (p.Asn2372ThrfsTer13)
c.7175del (p.Asn2392ThrfsTer13)
 ClinVar
17g.31343094A=CA2255605104NF1c.7130A= (p.Asn2377=)
c.1712A= (p.Asn571=)
c.1304A= (p.Asn435=)
n.3793A=
c.87A=
c.7178A= (p.Asn2393=)
c.7148A= (p.Asn2383=)
c.7085A= (p.Asn2362=)
c.6083A= (p.Asn2028=)
c.531A=
c.7284A= (n.7284A=)
c.291A=
n.390A=
n.562A=
c.7139A= (p.Asn2380=)
c.7115A= (p.Asn2372=)
c.7175A= (p.Asn2392=)
17g.31343094A>CCA399015697NF1c.7130A>C (p.Asn2377Thr)
c.1712A>C (p.Asn571Thr)
c.1304A>C (p.Asn435Thr)
n.3793A>C
c.87A>C
c.7178A>C (p.Asn2393Thr)
c.7148A>C (p.Asn2383Thr)
c.7085A>C (p.Asn2362Thr)
c.6083A>C (p.Asn2028Thr)
c.531A>C
c.7284A>C (n.7284A>C)
c.291A>C
n.390A>C
n.562A>C
c.7139A>C (p.Asn2380Thr)
c.7115A>C (p.Asn2372Thr)
c.7175A>C (p.Asn2392Thr)
 ClinVar
17g.31343094A>GCA289396242NF1c.7130A>G (p.Asn2377Ser)
c.1712A>G (p.Asn571Ser)
c.1304A>G (p.Asn435Ser)
n.3793A>G
c.87A>G
c.7178A>G (p.Asn2393Ser)
c.7148A>G (p.Asn2383Ser)
c.7085A>G (p.Asn2362Ser)
c.6083A>G (p.Asn2028Ser)
c.531A>G
c.7284A>G (n.7284A>G)
c.291A>G
n.390A>G
n.562A>G
c.7139A>G (p.Asn2380Ser)
c.7115A>G (p.Asn2372Ser)
c.7175A>G (p.Asn2392Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31343094A>TCA399015696NF1c.7130A>T (p.Asn2377Ile)
c.1712A>T (p.Asn571Ile)
c.1304A>T (p.Asn435Ile)
n.3793A>T
c.87A>T
c.7178A>T (p.Asn2393Ile)
c.7148A>T (p.Asn2383Ile)
c.7085A>T (p.Asn2362Ile)
c.6083A>T (p.Asn2028Ile)
c.531A>T
c.7284A>T (n.7284A>T)
c.291A>T
n.390A>T
n.562A>T
c.7139A>T (p.Asn2380Ile)
c.7115A>T (p.Asn2372Ile)
c.7175A>T (p.Asn2392Ile)
 dbSNP
17g.31343095C>ACA399015698NF1c.7131C>A (p.Asn2377Lys)
c.1713C>A (p.Asn571Lys)
c.1305C>A (p.Asn435Lys)
n.3794C>A
c.88C>A
c.7179C>A (p.Asn2393Lys)
c.7149C>A (p.Asn2383Lys)
c.7086C>A (p.Asn2362Lys)
c.6084C>A (p.Asn2028Lys)
c.532C>A
c.7285C>A (n.7285C>A)
c.292C>A
n.391C>A
n.563C>A
c.7140C>A (p.Asn2380Lys)
c.7116C>A (p.Asn2372Lys)
c.7176C>A (p.Asn2392Lys)
17g.31343095C=CA2255605105NF1c.7131C= (p.Asn2377=)
c.1713C= (p.Asn571=)
c.1305C= (p.Asn435=)
n.3794C=
c.88C=
c.7179C= (p.Asn2393=)
c.7149C= (p.Asn2383=)
c.7086C= (p.Asn2362=)
c.6084C= (p.Asn2028=)
c.532C=
c.7285C= (n.7285C=)
c.292C=
n.391C=
n.563C=
c.7140C= (p.Asn2380=)
c.7116C= (p.Asn2372=)
c.7176C= (p.Asn2392=)
17g.31343095C>GCA399015699NF1c.7131C>G (p.Asn2377Lys)
c.1713C>G (p.Asn571Lys)
c.1305C>G (p.Asn435Lys)
n.3794C>G
c.88C>G
c.7179C>G (p.Asn2393Lys)
c.7149C>G (p.Asn2383Lys)
c.7086C>G (p.Asn2362Lys)
c.6084C>G (p.Asn2028Lys)
c.532C>G
c.7285C>G (n.7285C>G)
c.292C>G
n.391C>G
n.563C>G
c.7140C>G (p.Asn2380Lys)
c.7116C>G (p.Asn2372Lys)
c.7176C>G (p.Asn2392Lys)
 dbSNP
17g.31343095C>TCA499236843NF1c.7131C>T (p.Asn2377=)
c.1713C>T (p.Asn571=)
c.1305C>T (p.Asn435=)
n.3794C>T
c.88C>T
c.7179C>T (p.Asn2393=)
c.7149C>T (p.Asn2383=)
c.7086C>T (p.Asn2362=)
c.6084C>T (p.Asn2028=)
c.532C>T
c.7285C>T (n.7285C>T)
c.292C>T
n.391C>T
n.563C>T
c.7140C>T (p.Asn2380=)
c.7116C>T (p.Asn2372=)
c.7176C>T (p.Asn2392=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31343097_31343098dupCA2697559657NF1c.7133_7134dup (p.Asn2379LeufsTer12)
c.1715_1716dup (p.Asn573LeufsTer12)
c.1307_1308dup (p.Asn437LeufsTer12)
n.3796_3797dup
c.90_91dup
c.7181_7182dup (p.Asn2395LeufsTer12)
c.7151_7152dup (p.Asn2385LeufsTer12)
c.7088_7089dup (p.Asn2364LeufsTer12)
c.6086_6087dup (p.Asn2030LeufsTer12)
c.534_535dup
c.7287_7288dup (n.7287_7288dup)
c.294_295dup
n.393_394dup
c.7142_7143dup (p.Asn2382LeufsTer12)
c.7118_7119dup (p.Asn2374LeufsTer12)
c.7178_7179dup (p.Asn2394LeufsTer12)
 ClinVar
17g.31343096T>ACA399015700NF1c.7132T>A (p.Ser2378Thr)
c.1714T>A (p.Ser572Thr)
c.1306T>A (p.Ser436Thr)
n.3795T>A
c.89T>A
c.7180T>A (p.Ser2394Thr)
c.7150T>A (p.Ser2384Thr)
c.7087T>A (p.Ser2363Thr)
c.6085T>A (p.Ser2029Thr)
c.533T>A
c.7286T>A (n.7286T>A)
c.293T>A
n.392T>A
n.564T>A
c.7141T>A (p.Ser2381Thr)
c.7117T>A (p.Ser2373Thr)
c.7177T>A (p.Ser2393Thr)
 dbSNP
17g.31343096T>CCA399015701NF1c.7132T>C (p.Ser2378Pro)
c.1714T>C (p.Ser572Pro)
c.1306T>C (p.Ser436Pro)
n.3795T>C
c.89T>C
c.7180T>C (p.Ser2394Pro)
c.7150T>C (p.Ser2384Pro)
c.7087T>C (p.Ser2363Pro)
c.6085T>C (p.Ser2029Pro)
c.533T>C
c.7286T>C (n.7286T>C)
c.293T>C
n.392T>C
n.564T>C
c.7141T>C (p.Ser2381Pro)
c.7117T>C (p.Ser2373Pro)
c.7177T>C (p.Ser2393Pro)
 ClinVar dbSNP gnomAD v4
17g.31343096T>GCA399015702NF1c.7132T>G (p.Ser2378Ala)
c.1714T>G (p.Ser572Ala)
c.1306T>G (p.Ser436Ala)
n.3795T>G
c.89T>G
c.7180T>G (p.Ser2394Ala)
c.7150T>G (p.Ser2384Ala)
c.7087T>G (p.Ser2363Ala)
c.6085T>G (p.Ser2029Ala)
c.533T>G
c.7286T>G (n.7286T>G)
c.293T>G
n.392T>G
n.564T>G
c.7141T>G (p.Ser2381Ala)
c.7117T>G (p.Ser2373Ala)
c.7177T>G (p.Ser2393Ala)
17g.31343096T=CA2255605106NF1c.7132T= (p.Ser2378=)
c.1714T= (p.Ser572=)
c.1306T= (p.Ser436=)
n.3795T=
c.89T=
c.7180T= (p.Ser2394=)
c.7150T= (p.Ser2384=)
c.7087T= (p.Ser2363=)
c.6085T= (p.Ser2029=)
c.533T=
c.7286T= (n.7286T=)
c.293T=
n.392T=
n.564T=
c.7141T= (p.Ser2381=)
c.7117T= (p.Ser2373=)
c.7177T= (p.Ser2393=)
17g.31343097C>ACA399015703NF1c.7133C>A (p.Ser2378Tyr)
c.1715C>A (p.Ser572Tyr)
c.1307C>A (p.Ser436Tyr)
n.3796C>A
c.90C>A
c.7181C>A (p.Ser2394Tyr)
c.7151C>A (p.Ser2384Tyr)
c.7088C>A (p.Ser2363Tyr)
c.6086C>A (p.Ser2029Tyr)
c.534C>A
c.7287C>A (n.7287C>A)
c.294C>A
n.393C>A
n.565C>A
c.7142C>A (p.Ser2381Tyr)
c.7118C>A (p.Ser2373Tyr)
c.7178C>A (p.Ser2393Tyr)
17g.31343097C=CA2255605108NF1c.7133C= (p.Ser2378=)
c.1715C= (p.Ser572=)
c.1307C= (p.Ser436=)
n.3796C=
c.90C=
c.7181C= (p.Ser2394=)
c.7151C= (p.Ser2384=)
c.7088C= (p.Ser2363=)
c.6086C= (p.Ser2029=)
c.534C=
c.7287C= (n.7287C=)
c.294C=
n.393C=
n.565C=
c.7142C= (p.Ser2381=)
c.7118C= (p.Ser2373=)
c.7178C= (p.Ser2393=)
17g.31343097C>GCA399015704NF1c.7133C>G (p.Ser2378Cys)
c.1715C>G (p.Ser572Cys)
c.1307C>G (p.Ser436Cys)
n.3796C>G
c.90C>G
c.7181C>G (p.Ser2394Cys)
c.7151C>G (p.Ser2384Cys)
c.7088C>G (p.Ser2363Cys)
c.6086C>G (p.Ser2029Cys)
c.534C>G
c.7287C>G (n.7287C>G)
c.294C>G
n.393C>G
n.565C>G
c.7142C>G (p.Ser2381Cys)
c.7118C>G (p.Ser2373Cys)
c.7178C>G (p.Ser2393Cys)
17g.31343097C>TCA399015705NF1c.7133C>T (p.Ser2378Phe)
c.1715C>T (p.Ser572Phe)
c.1307C>T (p.Ser436Phe)
n.3796C>T
c.90C>T
c.7181C>T (p.Ser2394Phe)
c.7151C>T (p.Ser2384Phe)
c.7088C>T (p.Ser2363Phe)
c.6086C>T (p.Ser2029Phe)
c.534C>T
c.7287C>T (n.7287C>T)
c.294C>T
n.393C>T
n.565C>T
c.7142C>T (p.Ser2381Phe)
c.7118C>T (p.Ser2373Phe)
c.7178C>T (p.Ser2393Phe)
 gnomAD v4
17g.31343097_31343103delinsCTAACTTCA2255605107NF1c.7133_7139delinsCTAACTT (p.Ser2378=)
c.1715_1721delinsCTAACTT (p.Ser572=)
c.1307_1313delinsCTAACTT (p.Ser436=)
n.3796_3802delinsCTAACTT
c.90_96delinsCTAACTT
c.7181_7187delinsCTAACTT (p.Ser2394=)
c.7151_7157delinsCTAACTT (p.Ser2384=)
c.7088_7094delinsCTAACTT (p.Ser2363=)
c.6086_6092delinsCTAACTT (p.Ser2029=)
c.534_540delinsCTAACTT
c.7287_7293delinsCTAACTT (n.7287_7293delinsCTAACTT)
c.294_300delinsCTAACTT
n.393_399delinsCTAACTT
c.7142_7148delinsCTAACTT (p.Ser2381=)
c.7118_7124delinsCTAACTT (p.Ser2373=)
c.7178_7184delinsCTAACTT (p.Ser2393=)
17g.31343097_31343098insACA1139665466NF1c.7133_7134insA (p.Asn2379Ter)
c.1715_1716insA (p.Asn573Ter)
c.1307_1308insA (p.Asn437Ter)
n.3796_3797insA
c.90_91insA
c.7181_7182insA (p.Asn2395Ter)
c.7151_7152insA (p.Asn2385Ter)
c.7088_7089insA (p.Asn2364Ter)
c.6086_6087insA (p.Asn2030Ter)
c.534_535insA
c.7287_7288insA (n.7287_7288insA)
c.294_295insA
n.393_394insA
n.565_566insA
c.7142_7143insA (p.Asn2382Ter)
c.7118_7119insA (p.Asn2374Ter)
c.7178_7179insA (p.Asn2394Ter)
 ClinVar dbSNP
17g.31343097_31343098insGCA2582342162NF1c.7133_7134insG (p.Asn2379Ter)
c.1715_1716insG (p.Asn573Ter)
c.1307_1308insG (p.Asn437Ter)
n.3796_3797insG
c.90_91insG
c.7181_7182insG (p.Asn2395Ter)
c.7151_7152insG (p.Asn2385Ter)
c.7088_7089insG (p.Asn2364Ter)
c.6086_6087insG (p.Asn2030Ter)
c.534_535insG
c.7287_7288insG (n.7287_7288insG)
c.294_295insG
n.393_394insG
n.565_566insG
c.7142_7143insG (p.Asn2382Ter)
c.7118_7119insG (p.Asn2374Ter)
c.7178_7179insG (p.Asn2394Ter)
 ClinVar
17g.31343098T>ACA499236846NF1c.7134T>A (p.Ser2378=)
c.1716T>A (p.Ser572=)
c.1308T>A (p.Ser436=)
n.3797T>A
c.91T>A
c.7182T>A (p.Ser2394=)
c.7152T>A (p.Ser2384=)
c.7089T>A (p.Ser2363=)
c.6087T>A (p.Ser2029=)
c.535T>A
c.7288T>A (n.7288T>A)
c.295T>A
n.394T>A
n.566T>A
c.7143T>A (p.Ser2381=)
c.7119T>A (p.Ser2373=)
c.7179T>A (p.Ser2393=)
 ClinVar dbSNP
17g.31343098T>CCA499236844NF1c.7134T>C (p.Ser2378=)
c.1716T>C (p.Ser572=)
c.1308T>C (p.Ser436=)
n.3797T>C
c.91T>C
c.7182T>C (p.Ser2394=)
c.7152T>C (p.Ser2384=)
c.7089T>C (p.Ser2363=)
c.6087T>C (p.Ser2029=)
c.535T>C
c.7288T>C (n.7288T>C)
c.295T>C
n.394T>C
n.566T>C
c.7143T>C (p.Ser2381=)
c.7119T>C (p.Ser2373=)
c.7179T>C (p.Ser2393=)
17g.31343098T>GCA499236845NF1c.7134T>G (p.Ser2378=)
c.1716T>G (p.Ser572=)
c.1308T>G (p.Ser436=)
n.3797T>G
c.91T>G
c.7182T>G (p.Ser2394=)
c.7152T>G (p.Ser2384=)
c.7089T>G (p.Ser2363=)
c.6087T>G (p.Ser2029=)
c.535T>G
c.7288T>G (n.7288T>G)
c.295T>G
n.394T>G
n.566T>G
c.7143T>G (p.Ser2381=)
c.7119T>G (p.Ser2373=)
c.7179T>G (p.Ser2393=)
17g.31343098_31343099insTTCA915949806NF1c.7134_7135insTT (p.Asn2379LeufsTer12)
c.1716_1717insTT (p.Asn573LeufsTer12)
c.1308_1309insTT (p.Asn437LeufsTer12)
n.3797_3798insTT
c.91_92insTT
c.7182_7183insTT (p.Asn2395LeufsTer12)
c.7152_7153insTT (p.Asn2385LeufsTer12)
c.7089_7090insTT (p.Asn2364LeufsTer12)
c.6087_6088insTT (p.Asn2030LeufsTer12)
c.535_536insTT
c.7288_7289insTT (n.7288_7289insTT)
c.295_296insTT
n.394_395insTT
c.7143_7144insTT (p.Asn2382LeufsTer12)
c.7119_7120insTT (p.Asn2374LeufsTer12)
c.7179_7180insTT (p.Asn2394LeufsTer12)
 ClinVar dbSNP
17g.31343098dupCA658684021NF1c.7134dup (p.Asn2379Ter)
c.1716dup (p.Asn573Ter)
c.1308dup (p.Asn437Ter)
n.3797dup
c.91dup
c.7182dup (p.Asn2395Ter)
c.7152dup (p.Asn2385Ter)
c.7089dup (p.Asn2364Ter)
c.6087dup (p.Asn2030Ter)
c.535dup
c.7288dup (n.7288dup)
c.295dup
n.394dup
c.7143dup (p.Asn2382Ter)
c.7119dup (p.Asn2374Ter)
c.7179dup (p.Asn2394Ter)
 ClinVar dbSNP
17g.31343105_31343110delCA350561NF1c.7141_7146del (p.Asn2381_Phe2382del)
c.1723_1728del (p.Asn575_Phe576del)
c.1315_1320del (p.Asn439_Phe440del)
n.3804_3809del
c.98_103del
c.7189_7194del (p.Asn2397_Phe2398del)
c.7159_7164del (p.Asn2387_Phe2388del)
c.7096_7101del (p.Asn2366_Phe2367del)
c.6094_6099del (p.Asn2032_Phe2033del)
c.542_547del
c.7295_7300del (n.7295_7300del)
c.302_307del
n.401_406del
c.7150_7155del (p.Asn2384_Phe2385del)
c.7126_7131del (p.Asn2376_Phe2377del)
c.7186_7191del (p.Asn2396_Phe2397del)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.31343099A=CA2255605109NF1c.7135A= (p.Asn2379=)
c.1717A= (p.Asn573=)
c.1309A= (p.Asn437=)
n.3798A=
c.92A=
c.7183A= (p.Asn2395=)
c.7153A= (p.Asn2385=)
c.7090A= (p.Asn2364=)
c.6088A= (p.Asn2030=)
c.536A=
c.7289A= (n.7289A=)
c.296A=
n.395A=
c.7144A= (p.Asn2382=)
c.7120A= (p.Asn2374=)
c.7180A= (p.Asn2394=)
17g.31343099A>CCA399015706NF1c.7135A>C (p.Asn2379His)
c.1717A>C (p.Asn573His)
c.1309A>C (p.Asn437His)
n.3798A>C
c.92A>C
c.7183A>C (p.Asn2395His)
c.7153A>C (p.Asn2385His)
c.7090A>C (p.Asn2364His)
c.6088A>C (p.Asn2030His)
c.536A>C
c.7289A>C (n.7289A>C)
c.296A>C
n.395A>C
c.7144A>C (p.Asn2382His)
c.7120A>C (p.Asn2374His)
c.7180A>C (p.Asn2394His)
 ClinVar
17g.31343099A>GCA399015707NF1c.7135A>G (p.Asn2379Asp)
c.1717A>G (p.Asn573Asp)
c.1309A>G (p.Asn437Asp)
n.3798A>G
c.92A>G
c.7183A>G (p.Asn2395Asp)
c.7153A>G (p.Asn2385Asp)
c.7090A>G (p.Asn2364Asp)
c.6088A>G (p.Asn2030Asp)
c.536A>G
c.7289A>G (n.7289A>G)
c.296A>G
n.395A>G
c.7144A>G (p.Asn2382Asp)
c.7120A>G (p.Asn2374Asp)
c.7180A>G (p.Asn2394Asp)
 ClinVar dbSNP
17g.31343099A>TCA399015708NF1c.7135A>T (p.Asn2379Tyr)
c.1717A>T (p.Asn573Tyr)
c.1309A>T (p.Asn437Tyr)
n.3798A>T
c.92A>T
c.7183A>T (p.Asn2395Tyr)
c.7153A>T (p.Asn2385Tyr)
c.7090A>T (p.Asn2364Tyr)
c.6088A>T (p.Asn2030Tyr)
c.536A>T
c.7289A>T (n.7289A>T)
c.296A>T
n.395A>T
c.7144A>T (p.Asn2382Tyr)
c.7120A>T (p.Asn2374Tyr)
c.7180A>T (p.Asn2394Tyr)
17g.31343100A>CCA399015711NF1c.7136A>C (p.Asn2379Thr)
c.1718A>C (p.Asn573Thr)
c.1310A>C (p.Asn437Thr)
n.3799A>C
c.93A>C
c.7184A>C (p.Asn2395Thr)
c.7154A>C (p.Asn2385Thr)
c.7091A>C (p.Asn2364Thr)
c.6089A>C (p.Asn2030Thr)
c.537A>C
c.7290A>C (n.7290A>C)
c.297A>C
n.396A>C
c.7145A>C (p.Asn2382Thr)
c.7121A>C (p.Asn2374Thr)
c.7181A>C (p.Asn2394Thr)
17g.31343100A>GCA399015709NF1c.7136A>G (p.Asn2379Ser)
c.1718A>G (p.Asn573Ser)
c.1310A>G (p.Asn437Ser)
n.3799A>G
c.93A>G
c.7184A>G (p.Asn2395Ser)
c.7154A>G (p.Asn2385Ser)
c.7091A>G (p.Asn2364Ser)
c.6089A>G (p.Asn2030Ser)
c.537A>G
c.7290A>G (n.7290A>G)
c.297A>G
n.396A>G
c.7145A>G (p.Asn2382Ser)
c.7121A>G (p.Asn2374Ser)
c.7181A>G (p.Asn2394Ser)
17g.31343100A>TCA399015710NF1c.7136A>T (p.Asn2379Ile)
c.1718A>T (p.Asn573Ile)
c.1310A>T (p.Asn437Ile)
n.3799A>T
c.93A>T
c.7184A>T (p.Asn2395Ile)
c.7154A>T (p.Asn2385Ile)
c.7091A>T (p.Asn2364Ile)
c.6089A>T (p.Asn2030Ile)
c.537A>T
c.7290A>T (n.7290A>T)
c.297A>T
n.396A>T
c.7145A>T (p.Asn2382Ile)
c.7121A>T (p.Asn2374Ile)
c.7181A>T (p.Asn2394Ile)
 dbSNP gnomAD v4
17g.31343101C>ACA399015712NF1c.7137C>A (p.Asn2379Lys)
c.1719C>A (p.Asn573Lys)
c.1311C>A (p.Asn437Lys)
n.3800C>A
c.94C>A
c.7185C>A (p.Asn2395Lys)
c.7155C>A (p.Asn2385Lys)
c.7092C>A (p.Asn2364Lys)
c.6090C>A (p.Asn2030Lys)
c.538C>A
c.7291C>A (n.7291C>A)
c.298C>A
n.397C>A
c.7146C>A (p.Asn2382Lys)
c.7122C>A (p.Asn2374Lys)
c.7182C>A (p.Asn2394Lys)
17g.31343101C>GCA399015713NF1c.7137C>G (p.Asn2379Lys)
c.1719C>G (p.Asn573Lys)
c.1311C>G (p.Asn437Lys)
n.3800C>G
c.94C>G
c.7185C>G (p.Asn2395Lys)
c.7155C>G (p.Asn2385Lys)
c.7092C>G (p.Asn2364Lys)
c.6090C>G (p.Asn2030Lys)
c.538C>G
c.7291C>G (n.7291C>G)
c.298C>G
n.397C>G
c.7146C>G (p.Asn2382Lys)
c.7122C>G (p.Asn2374Lys)
c.7182C>G (p.Asn2394Lys)
17g.31343101C>TCA499236847NF1c.7137C>T (p.Asn2379=)
c.1719C>T (p.Asn573=)
c.1311C>T (p.Asn437=)
n.3800C>T
c.94C>T
c.7185C>T (p.Asn2395=)
c.7155C>T (p.Asn2385=)
c.7092C>T (p.Asn2364=)
c.6090C>T (p.Asn2030=)
c.538C>T
c.7291C>T (n.7291C>T)
c.298C>T
n.397C>T
c.7146C>T (p.Asn2382=)
c.7122C>T (p.Asn2374=)
c.7182C>T (p.Asn2394=)
 ClinVar dbSNP
17g.31343101_31343102delinsCTCA2255605110NF1c.7137_7138delinsCT (p.Asn2379=)
c.1719_1720delinsCT (p.Asn573=)
c.1311_1312delinsCT (p.Asn437=)
n.3800_3801delinsCT
c.94_95delinsCT
c.7185_7186delinsCT (p.Asn2395=)
c.7155_7156delinsCT (p.Asn2385=)
c.7092_7093delinsCT (p.Asn2364=)
c.6090_6091delinsCT (p.Asn2030=)
c.538_539delinsCT
c.7291_7292delinsCT (n.7291_7292delinsCT)
c.298_299delinsCT
n.397_398delinsCT
c.7146_7147delinsCT (p.Asn2382=)
c.7122_7123delinsCT (p.Asn2374=)
c.7182_7183delinsCT (p.Asn2394=)
17g.31343101_31343104dupCA2739265561NF1c.7137_7140dup (p.Asn2381LeufsTer2)
c.1719_1722dup (p.Asn575LeufsTer2)
c.1311_1314dup (p.Asn439LeufsTer2)
n.3800_3803dup
c.94_97dup
c.7185_7188dup (p.Asn2397LeufsTer2)
c.7155_7158dup (p.Asn2387LeufsTer2)
c.7092_7095dup (p.Asn2366LeufsTer2)
c.6090_6093dup (p.Asn2032LeufsTer2)
c.538_541dup
c.7291_7294dup (n.7291_7294dup)
c.298_301dup
n.397_400dup
c.7146_7149dup (p.Asn2384LeufsTer2)
c.7122_7125dup (p.Asn2376LeufsTer2)
c.7182_7185dup (p.Asn2396LeufsTer2)
 ClinVar
17g.31343102T>ACA399015716NF1c.7138T>A (p.Phe2380Ile)
c.1720T>A (p.Phe574Ile)
c.1312T>A (p.Phe438Ile)
n.3801T>A
c.95T>A
c.7186T>A (p.Phe2396Ile)
c.7156T>A (p.Phe2386Ile)
c.7093T>A (p.Phe2365Ile)
c.6091T>A (p.Phe2031Ile)
c.539T>A
c.7292T>A (n.7292T>A)
c.299T>A
n.398T>A
c.7147T>A (p.Phe2383Ile)
c.7123T>A (p.Phe2375Ile)
c.7183T>A (p.Phe2395Ile)
 ClinVar dbSNP
17g.31343102T>CCA399015714NF1c.7138T>C (p.Phe2380Leu)
c.1720T>C (p.Phe574Leu)
c.1312T>C (p.Phe438Leu)
n.3801T>C
c.95T>C
c.7186T>C (p.Phe2396Leu)
c.7156T>C (p.Phe2386Leu)
c.7093T>C (p.Phe2365Leu)
c.6091T>C (p.Phe2031Leu)
c.539T>C
c.7292T>C (n.7292T>C)
c.299T>C
n.398T>C
c.7147T>C (p.Phe2383Leu)
c.7123T>C (p.Phe2375Leu)
c.7183T>C (p.Phe2395Leu)
17g.31343102T>GCA399015715NF1c.7138T>G (p.Phe2380Val)
c.1720T>G (p.Phe574Val)
c.1312T>G (p.Phe438Val)
n.3801T>G
c.95T>G
c.7186T>G (p.Phe2396Val)
c.7156T>G (p.Phe2386Val)
c.7093T>G (p.Phe2365Val)
c.6091T>G (p.Phe2031Val)
c.539T>G
c.7292T>G (n.7292T>G)
c.299T>G
n.398T>G
c.7147T>G (p.Phe2383Val)
c.7123T>G (p.Phe2375Val)
c.7183T>G (p.Phe2395Val)
 ClinVar dbSNP
17g.31343102T=CA2255605111NF1c.7138T= (p.Phe2380=)
c.1720T= (p.Phe574=)
c.1312T= (p.Phe438=)
n.3801T=
c.95T=
c.7186T= (p.Phe2396=)
c.7156T= (p.Phe2386=)
c.7093T= (p.Phe2365=)
c.6091T= (p.Phe2031=)
c.539T=
c.7292T= (n.7292T=)
c.299T=
n.398T=
c.7147T= (p.Phe2383=)
c.7123T= (p.Phe2375=)
c.7183T= (p.Phe2395=)
17g.31343104dupCA658761009NF1c.7140dup (p.Asn2381Ter)
c.1722dup (p.Asn575Ter)
c.1314dup (p.Asn439Ter)
n.3803dup
c.97dup
c.7188dup (p.Asn2397Ter)
c.7158dup (p.Asn2387Ter)
c.7095dup (p.Asn2366Ter)
c.6093dup (p.Asn2032Ter)
c.541dup
c.7294dup (n.7294dup)
c.301dup
n.400dup
c.7149dup (p.Asn2384Ter)
c.7125dup (p.Asn2376Ter)
c.7185dup (p.Asn2396Ter)
 ClinVar dbSNP
17g.31343103_31343104dupCA916080696NF1c.7139_7140dup (p.Asn2381LeufsTer10)
c.1721_1722dup (p.Asn575LeufsTer10)
c.1313_1314dup (p.Asn439LeufsTer10)
n.3802_3803dup
c.96_97dup
c.7187_7188dup (p.Asn2397LeufsTer10)
c.7157_7158dup (p.Asn2387LeufsTer10)
c.7094_7095dup (p.Asn2366LeufsTer10)
c.6092_6093dup (p.Asn2032LeufsTer10)
c.540_541dup
c.7293_7294dup (n.7293_7294dup)
c.300_301dup
n.399_400dup
c.7148_7149dup (p.Asn2384LeufsTer10)
c.7124_7125dup (p.Asn2376LeufsTer10)
c.7184_7185dup (p.Asn2396LeufsTer10)
 ClinVar dbSNP
17g.31343104delCA915949807NF1c.7140del (p.Phe2380LeufsTer10)
c.1722del (p.Phe574LeufsTer10)
c.1314del (p.Phe438LeufsTer10)
n.3803del
c.97del
c.7188del (p.Phe2396LeufsTer10)
c.7158del (p.Phe2386LeufsTer10)
c.7095del (p.Phe2365LeufsTer10)
c.6093del (p.Phe2031LeufsTer10)
c.541del
c.7294del (n.7294del)
c.301del
n.400del
c.7149del (p.Phe2383LeufsTer10)
c.7125del (p.Phe2375LeufsTer10)
c.7185del (p.Phe2395LeufsTer10)
 ClinVar dbSNP
17g.31343103T>ACA399015717NF1c.7139T>A (p.Phe2380Tyr)
c.1721T>A (p.Phe574Tyr)
c.1313T>A (p.Phe438Tyr)
n.3802T>A
c.96T>A
c.7187T>A (p.Phe2396Tyr)
c.7157T>A (p.Phe2386Tyr)
c.7094T>A (p.Phe2365Tyr)
c.6092T>A (p.Phe2031Tyr)
c.540T>A
c.7293T>A (n.7293T>A)
c.300T>A
n.399T>A
c.7148T>A (p.Phe2383Tyr)
c.7124T>A (p.Phe2375Tyr)
c.7184T>A (p.Phe2395Tyr)
17g.31343103T>CCA399015718NF1c.7139T>C (p.Phe2380Ser)
c.1721T>C (p.Phe574Ser)
c.1313T>C (p.Phe438Ser)
n.3802T>C
c.96T>C
c.7187T>C (p.Phe2396Ser)
c.7157T>C (p.Phe2386Ser)
c.7094T>C (p.Phe2365Ser)
c.6092T>C (p.Phe2031Ser)
c.540T>C
c.7293T>C (n.7293T>C)
c.300T>C
n.399T>C
c.7148T>C (p.Phe2383Ser)
c.7124T>C (p.Phe2375Ser)
c.7184T>C (p.Phe2395Ser)
 ClinVar dbSNP
17g.31343103T>GCA399015719NF1c.7139T>G (p.Phe2380Cys)
c.1721T>G (p.Phe574Cys)
c.1313T>G (p.Phe438Cys)
n.3802T>G
c.96T>G
c.7187T>G (p.Phe2396Cys)
c.7157T>G (p.Phe2386Cys)
c.7094T>G (p.Phe2365Cys)
c.6092T>G (p.Phe2031Cys)
c.540T>G
c.7293T>G (n.7293T>G)
c.300T>G
n.399T>G
c.7148T>G (p.Phe2383Cys)
c.7124T>G (p.Phe2375Cys)
c.7184T>G (p.Phe2395Cys)
17g.31343103T=CA2255605112NF1c.7139T= (p.Phe2380=)
c.1721T= (p.Phe574=)
c.1313T= (p.Phe438=)
n.3802T=
c.96T=
c.7187T= (p.Phe2396=)
c.7157T= (p.Phe2386=)
c.7094T= (p.Phe2365=)
c.6092T= (p.Phe2031=)
c.540T=
c.7293T= (n.7293T=)
c.300T=
n.399T=
c.7148T= (p.Phe2383=)
c.7124T= (p.Phe2375=)
c.7184T= (p.Phe2395=)
17g.31343104T>ACA399015720NF1c.7140T>A (p.Phe2380Leu)
c.1722T>A (p.Phe574Leu)
c.1314T>A (p.Phe438Leu)
n.3803T>A
c.97T>A
c.7188T>A (p.Phe2396Leu)
c.7158T>A (p.Phe2386Leu)
c.7095T>A (p.Phe2365Leu)
c.6093T>A (p.Phe2031Leu)
c.541T>A
c.7294T>A (n.7294T>A)
c.301T>A
n.400T>A
c.7149T>A (p.Phe2383Leu)
c.7125T>A (p.Phe2375Leu)
c.7185T>A (p.Phe2395Leu)
 dbSNP
17g.31343104T>CCA10580399NF1c.7140T>C (p.Phe2380=)
c.1722T>C (p.Phe574=)
c.1314T>C (p.Phe438=)
n.3803T>C
c.97T>C
c.7188T>C (p.Phe2396=)
c.7158T>C (p.Phe2386=)
c.7095T>C (p.Phe2365=)
c.6093T>C (p.Phe2031=)
c.541T>C
c.7294T>C (n.7294T>C)
c.301T>C
n.400T>C
c.7149T>C (p.Phe2383=)
c.7125T>C (p.Phe2375=)
c.7185T>C (p.Phe2395=)
 ClinVar dbSNP gnomAD v4
17g.31343104T>GCA399015721NF1c.7140T>G (p.Phe2380Leu)
c.1722T>G (p.Phe574Leu)
c.1314T>G (p.Phe438Leu)
n.3803T>G
c.97T>G
c.7188T>G (p.Phe2396Leu)
c.7158T>G (p.Phe2386Leu)
c.7095T>G (p.Phe2365Leu)
c.6093T>G (p.Phe2031Leu)
c.541T>G
c.7294T>G (n.7294T>G)
c.301T>G
n.400T>G
c.7149T>G (p.Phe2383Leu)
c.7125T>G (p.Phe2375Leu)
c.7185T>G (p.Phe2395Leu)
17g.31343104T=CA2255605113NF1c.7140T= (p.Phe2380=)
c.1722T= (p.Phe574=)
c.1314T= (p.Phe438=)
n.3803T=
c.97T=
c.7188T= (p.Phe2396=)
c.7158T= (p.Phe2386=)
c.7095T= (p.Phe2365=)
c.6093T= (p.Phe2031=)
c.541T=
c.7294T= (n.7294T=)
c.301T=
n.400T=
c.7149T= (p.Phe2383=)
c.7125T= (p.Phe2375=)
c.7185T= (p.Phe2395=)
17g.31343105A=CA2255605114NF1c.7141A= (p.Asn2381=)
c.1723A= (p.Asn575=)
c.1315A= (p.Asn439=)
n.3804A=
c.98A=
c.7189A= (p.Asn2397=)
c.7159A= (p.Asn2387=)
c.7096A= (p.Asn2366=)
c.6094A= (p.Asn2032=)
c.542A=
c.7295A= (n.7295A=)
c.302A=
n.401A=
c.7150A= (p.Asn2384=)
c.7126A= (p.Asn2376=)
c.7186A= (p.Asn2396=)
17g.31343105A>CCA8487504NF1c.7141A>C (p.Asn2381His)
c.1723A>C (p.Asn575His)
c.1315A>C (p.Asn439His)
n.3804A>C
c.98A>C
c.7189A>C (p.Asn2397His)
c.7159A>C (p.Asn2387His)
c.7096A>C (p.Asn2366His)
c.6094A>C (p.Asn2032His)
c.542A>C
c.7295A>C (n.7295A>C)
c.302A>C
n.401A>C
c.7150A>C (p.Asn2384His)
c.7126A>C (p.Asn2376His)
c.7186A>C (p.Asn2396His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343105A>GCA399015722NF1c.7141A>G (p.Asn2381Asp)
c.1723A>G (p.Asn575Asp)
c.1315A>G (p.Asn439Asp)
n.3804A>G
c.98A>G
c.7189A>G (p.Asn2397Asp)
c.7159A>G (p.Asn2387Asp)
c.7096A>G (p.Asn2366Asp)
c.6094A>G (p.Asn2032Asp)
c.542A>G
c.7295A>G (n.7295A>G)
c.302A>G
n.401A>G
c.7150A>G (p.Asn2384Asp)
c.7126A>G (p.Asn2376Asp)
c.7186A>G (p.Asn2396Asp)
17g.31343105A>TCA399015723NF1c.7141A>T (p.Asn2381Tyr)
c.1723A>T (p.Asn575Tyr)
c.1315A>T (p.Asn439Tyr)
n.3804A>T
c.98A>T
c.7189A>T (p.Asn2397Tyr)
c.7159A>T (p.Asn2387Tyr)
c.7096A>T (p.Asn2366Tyr)
c.6094A>T (p.Asn2032Tyr)
c.542A>T
c.7295A>T (n.7295A>T)
c.302A>T
n.401A>T
c.7150A>T (p.Asn2384Tyr)
c.7126A>T (p.Asn2376Tyr)
c.7186A>T (p.Asn2396Tyr)
 ClinVar dbSNP
17g.31343106dupCA2695225450NF1c.7142dup (p.Asn2381LysfsTer?)
c.1724dup (p.Asn575LysfsTer?)
c.1316dup (p.Asn439LysfsTer?)
n.3805dup
c.99dup
c.7190dup (p.Asn2397LysfsTer?)
c.7160dup (p.Asn2387LysfsTer?)
c.7097dup (p.Asn2366LysfsTer?)
c.6095dup (p.Asn2032LysfsTer?)
c.543dup
c.7296dup (n.7296dup)
c.303dup
n.402dup
c.7151dup (p.Asn2384LysfsTer?)
c.7127dup (p.Asn2376LysfsTer?)
c.7187dup (p.Asn2396LysfsTer?)
17g.31343106delCA2580093263NF1c.7142del (p.Asn2381ThrfsTer9)
c.1724del (p.Asn575ThrfsTer9)
c.1316del (p.Asn439ThrfsTer9)
n.3805del
c.99del
c.7190del (p.Asn2397ThrfsTer9)
c.7160del (p.Asn2387ThrfsTer9)
c.7097del (p.Asn2366ThrfsTer9)
c.6095del (p.Asn2032ThrfsTer9)
c.543del
c.7296del (n.7296del)
c.303del
n.402del
c.7151del (p.Asn2384ThrfsTer9)
c.7127del (p.Asn2376ThrfsTer9)
c.7187del (p.Asn2396ThrfsTer9)
 ClinVar
17g.31343106A=CA2255605115NF1c.7142A= (p.Asn2381=)
c.1724A= (p.Asn575=)
c.1316A= (p.Asn439=)
n.3805A=
c.99A=
c.7190A= (p.Asn2397=)
c.7160A= (p.Asn2387=)
c.7097A= (p.Asn2366=)
c.6095A= (p.Asn2032=)
c.543A=
c.7296A= (n.7296A=)
c.303A=
n.402A=
c.7151A= (p.Asn2384=)
c.7127A= (p.Asn2376=)
c.7187A= (p.Asn2396=)
17g.31343106A>CCA399015726NF1c.7142A>C (p.Asn2381Thr)
c.1724A>C (p.Asn575Thr)
c.1316A>C (p.Asn439Thr)
n.3805A>C
c.99A>C
c.7190A>C (p.Asn2397Thr)
c.7160A>C (p.Asn2387Thr)
c.7097A>C (p.Asn2366Thr)
c.6095A>C (p.Asn2032Thr)
c.543A>C
c.7296A>C (n.7296A>C)
c.303A>C
n.402A>C
c.7151A>C (p.Asn2384Thr)
c.7127A>C (p.Asn2376Thr)
c.7187A>C (p.Asn2396Thr)
 ClinVar dbSNP
17g.31343106A>GCA399015724NF1c.7142A>G (p.Asn2381Ser)
c.1724A>G (p.Asn575Ser)
c.1316A>G (p.Asn439Ser)
n.3805A>G
c.99A>G
c.7190A>G (p.Asn2397Ser)
c.7160A>G (p.Asn2387Ser)
c.7097A>G (p.Asn2366Ser)
c.6095A>G (p.Asn2032Ser)
c.543A>G
c.7296A>G (n.7296A>G)
c.303A>G
n.402A>G
c.7151A>G (p.Asn2384Ser)
c.7127A>G (p.Asn2376Ser)
c.7187A>G (p.Asn2396Ser)
 ClinVar
17g.31343106A>TCA399015725NF1c.7142A>T (p.Asn2381Ile)
c.1724A>T (p.Asn575Ile)
c.1316A>T (p.Asn439Ile)
n.3805A>T
c.99A>T
c.7190A>T (p.Asn2397Ile)
c.7160A>T (p.Asn2387Ile)
c.7097A>T (p.Asn2366Ile)
c.6095A>T (p.Asn2032Ile)
c.543A>T
c.7296A>T (n.7296A>T)
c.303A>T
n.402A>T
c.7151A>T (p.Asn2384Ile)
c.7127A>T (p.Asn2376Ile)
c.7187A>T (p.Asn2396Ile)
 dbSNP
17g.31343107C>ACA399015727NF1c.7143C>A (p.Asn2381Lys)
c.1725C>A (p.Asn575Lys)
c.1317C>A (p.Asn439Lys)
n.3806C>A
c.100C>A
c.7191C>A (p.Asn2397Lys)
c.7161C>A (p.Asn2387Lys)
c.7098C>A (p.Asn2366Lys)
c.6096C>A (p.Asn2032Lys)
c.544C>A
c.7297C>A (n.7297C>A)
c.304C>A
n.403C>A
c.7152C>A (p.Asn2384Lys)
c.7128C>A (p.Asn2376Lys)
c.7188C>A (p.Asn2396Lys)
17g.31343107C=CA2255605116NF1c.7143C= (p.Asn2381=)
c.1725C= (p.Asn575=)
c.1317C= (p.Asn439=)
n.3806C=
c.100C=
c.7191C= (p.Asn2397=)
c.7161C= (p.Asn2387=)
c.7098C= (p.Asn2366=)
c.6096C= (p.Asn2032=)
c.544C=
c.7297C= (n.7297C=)
c.304C=
n.403C=
c.7152C= (p.Asn2384=)
c.7128C= (p.Asn2376=)
c.7188C= (p.Asn2396=)
17g.31343107C>GCA399015728NF1c.7143C>G (p.Asn2381Lys)
c.1725C>G (p.Asn575Lys)
c.1317C>G (p.Asn439Lys)
n.3806C>G
c.100C>G
c.7191C>G (p.Asn2397Lys)
c.7161C>G (p.Asn2387Lys)
c.7098C>G (p.Asn2366Lys)
c.6096C>G (p.Asn2032Lys)
c.544C>G
c.7297C>G (n.7297C>G)
c.304C>G
n.403C>G
c.7152C>G (p.Asn2384Lys)
c.7128C>G (p.Asn2376Lys)
c.7188C>G (p.Asn2396Lys)
 ClinVar dbSNP
17g.31343107C>TCA499236848NF1c.7143C>T (p.Asn2381=)
c.1725C>T (p.Asn575=)
c.1317C>T (p.Asn439=)
n.3806C>T
c.100C>T
c.7191C>T (p.Asn2397=)
c.7161C>T (p.Asn2387=)
c.7098C>T (p.Asn2366=)
c.6096C>T (p.Asn2032=)
c.544C>T
c.7297C>T (n.7297C>T)
c.304C>T
n.403C>T
c.7152C>T (p.Asn2384=)
c.7128C>T (p.Asn2376=)
c.7188C>T (p.Asn2396=)
 dbSNP
17g.31343108T>ACA399015729NF1c.7144T>A (p.Phe2382Ile)
c.1726T>A (p.Phe576Ile)
c.1318T>A (p.Phe440Ile)
n.3807T>A
c.101T>A
c.7192T>A (p.Phe2398Ile)
c.7162T>A (p.Phe2388Ile)
c.7099T>A (p.Phe2367Ile)
c.6097T>A (p.Phe2033Ile)
c.545T>A
c.7298T>A (n.7298T>A)
c.305T>A
n.404T>A
c.7153T>A (p.Phe2385Ile)
c.7129T>A (p.Phe2377Ile)
c.7189T>A (p.Phe2397Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31343108T>CCA399015730NF1c.7144T>C (p.Phe2382Leu)
c.1726T>C (p.Phe576Leu)
c.1318T>C (p.Phe440Leu)
n.3807T>C
c.101T>C
c.7192T>C (p.Phe2398Leu)
c.7162T>C (p.Phe2388Leu)
c.7099T>C (p.Phe2367Leu)
c.6097T>C (p.Phe2033Leu)
c.545T>C
c.7298T>C (n.7298T>C)
c.305T>C
n.404T>C
c.7153T>C (p.Phe2385Leu)
c.7129T>C (p.Phe2377Leu)
c.7189T>C (p.Phe2397Leu)
 ClinVar dbSNP
17g.31343108T>GCA399015731NF1c.7144T>G (p.Phe2382Val)
c.1726T>G (p.Phe576Val)
c.1318T>G (p.Phe440Val)
n.3807T>G
c.101T>G
c.7192T>G (p.Phe2398Val)
c.7162T>G (p.Phe2388Val)
c.7099T>G (p.Phe2367Val)
c.6097T>G (p.Phe2033Val)
c.545T>G
c.7298T>G (n.7298T>G)
c.305T>G
n.404T>G
c.7153T>G (p.Phe2385Val)
c.7129T>G (p.Phe2377Val)
c.7189T>G (p.Phe2397Val)
 ClinVar
17g.31343108T=CA2255605117NF1c.7144T= (p.Phe2382=)
c.1726T= (p.Phe576=)
c.1318T= (p.Phe440=)
n.3807T=
c.101T=
c.7192T= (p.Phe2398=)
c.7162T= (p.Phe2388=)
c.7099T= (p.Phe2367=)
c.6097T= (p.Phe2033=)
c.545T=
c.7298T= (n.7298T=)
c.305T=
n.404T=
c.7153T= (p.Phe2385=)
c.7129T= (p.Phe2377=)
c.7189T= (p.Phe2397=)
17g.31343109_31343110delCA2580093266NF1c.7145_7146del (p.Phe2382CysfsTer?)
c.1727_1728del (p.Phe576CysfsTer?)
c.1319_1320del (p.Phe440CysfsTer?)
n.3808_3809del
c.102_103del
c.7193_7194del (p.Phe2398CysfsTer?)
c.7163_7164del (p.Phe2388CysfsTer?)
c.7100_7101del (p.Phe2367CysfsTer?)
c.6098_6099del (p.Phe2033CysfsTer?)
c.546_547del
c.7299_7300del (n.7299_7300del)
c.306_307del
n.405_406del
c.7154_7155del (p.Phe2385CysfsTer?)
c.7130_7131del (p.Phe2377CysfsTer?)
c.7190_7191del (p.Phe2397CysfsTer?)
 ClinVar
17g.31343109T>ACA399015732NF1c.7145T>A (p.Phe2382Tyr)
c.1727T>A (p.Phe576Tyr)
c.1319T>A (p.Phe440Tyr)
n.3808T>A
c.102T>A
c.7193T>A (p.Phe2398Tyr)
c.7163T>A (p.Phe2388Tyr)
c.7100T>A (p.Phe2367Tyr)
c.6098T>A (p.Phe2033Tyr)
c.546T>A
c.7299T>A (n.7299T>A)
c.306T>A
n.405T>A
c.7154T>A (p.Phe2385Tyr)
c.7130T>A (p.Phe2377Tyr)
c.7190T>A (p.Phe2397Tyr)
17g.31343109T>CCA399015733NF1c.7145T>C (p.Phe2382Ser)
c.1727T>C (p.Phe576Ser)
c.1319T>C (p.Phe440Ser)
n.3808T>C
c.102T>C
c.7193T>C (p.Phe2398Ser)
c.7163T>C (p.Phe2388Ser)
c.7100T>C (p.Phe2367Ser)
c.6098T>C (p.Phe2033Ser)
c.546T>C
c.7299T>C (n.7299T>C)
c.306T>C
n.405T>C
c.7154T>C (p.Phe2385Ser)
c.7130T>C (p.Phe2377Ser)
c.7190T>C (p.Phe2397Ser)
17g.31343109T>GCA399015734NF1c.7145T>G (p.Phe2382Cys)
c.1727T>G (p.Phe576Cys)
c.1319T>G (p.Phe440Cys)
n.3808T>G
c.102T>G
c.7193T>G (p.Phe2398Cys)
c.7163T>G (p.Phe2388Cys)
c.7100T>G (p.Phe2367Cys)
c.6098T>G (p.Phe2033Cys)
c.546T>G
c.7299T>G (n.7299T>G)
c.306T>G
n.405T>G
c.7154T>G (p.Phe2385Cys)
c.7130T>G (p.Phe2377Cys)
c.7190T>G (p.Phe2397Cys)
17g.31343110T>ACA399015735NF1c.7146T>A (p.Phe2382Leu)
c.1728T>A (p.Phe576Leu)
c.1320T>A (p.Phe440Leu)
n.3809T>A
c.103T>A
c.7194T>A (p.Phe2398Leu)
c.7164T>A (p.Phe2388Leu)
c.7101T>A (p.Phe2367Leu)
c.6099T>A (p.Phe2033Leu)
c.547T>A
c.7300T>A (n.7300T>A)
c.307T>A
n.406T>A
c.7155T>A (p.Phe2385Leu)
c.7131T>A (p.Phe2377Leu)
c.7191T>A (p.Phe2397Leu)
 dbSNP
17g.31343110T>CCA196486NF1c.7146T>C (p.Phe2382=)
c.1728T>C (p.Phe576=)
c.1320T>C (p.Phe440=)
n.3809T>C
c.103T>C
c.7194T>C (p.Phe2398=)
c.7164T>C (p.Phe2388=)
c.7101T>C (p.Phe2367=)
c.6099T>C (p.Phe2033=)
c.547T>C
c.7300T>C (n.7300T>C)
c.307T>C
n.406T>C
c.7155T>C (p.Phe2385=)
c.7131T>C (p.Phe2377=)
c.7191T>C (p.Phe2397=)
 ClinVar dbSNP gnomAD v4
17g.31343110T>GCA399015736NF1c.7146T>G (p.Phe2382Leu)
c.1728T>G (p.Phe576Leu)
c.1320T>G (p.Phe440Leu)
n.3809T>G
c.103T>G
c.7194T>G (p.Phe2398Leu)
c.7164T>G (p.Phe2388Leu)
c.7101T>G (p.Phe2367Leu)
c.6099T>G (p.Phe2033Leu)
c.547T>G
c.7300T>G (n.7300T>G)
c.307T>G
n.406T>G
c.7155T>G (p.Phe2385Leu)
c.7131T>G (p.Phe2377Leu)
c.7191T>G (p.Phe2397Leu)
17g.31343110T=CA2255605118NF1c.7146T= (p.Phe2382=)
c.1728T= (p.Phe576=)
c.1320T= (p.Phe440=)
n.3809T=
c.103T=
c.7194T= (p.Phe2398=)
c.7164T= (p.Phe2388=)
c.7101T= (p.Phe2367=)
c.6099T= (p.Phe2033=)
c.547T=
c.7300T= (n.7300T=)
c.307T=
n.406T=
c.7155T= (p.Phe2385=)
c.7131T= (p.Phe2377=)
c.7191T= (p.Phe2397=)
17g.31343111G>ACA399015739NF1c.7147G>A (p.Ala2383Thr)
c.1729G>A (p.Ala577Thr)
c.1321G>A (p.Ala441Thr)
n.3810G>A
c.104G>A
c.7195G>A (p.Ala2399Thr)
c.7165G>A (p.Ala2389Thr)
c.7102G>A (p.Ala2368Thr)
c.6100G>A (p.Ala2034Thr)
c.548G>A
c.7301G>A (n.7301G>A)
c.308G>A
n.407G>A
c.7156G>A (p.Ala2386Thr)
c.7132G>A (p.Ala2378Thr)
c.7192G>A (p.Ala2398Thr)
17g.31343111G>CCA399015738NF1c.7147G>C (p.Ala2383Pro)
c.1729G>C (p.Ala577Pro)
c.1321G>C (p.Ala441Pro)
n.3810G>C
c.104G>C
c.7195G>C (p.Ala2399Pro)
c.7165G>C (p.Ala2389Pro)
c.7102G>C (p.Ala2368Pro)
c.6100G>C (p.Ala2034Pro)
c.548G>C
c.7301G>C (n.7301G>C)
c.308G>C
n.407G>C
c.7156G>C (p.Ala2386Pro)
c.7132G>C (p.Ala2378Pro)
c.7192G>C (p.Ala2398Pro)
 dbSNP
17g.31343111G=CA2255605119NF1c.7147G= (p.Ala2383=)
c.1729G= (p.Ala577=)
c.1321G= (p.Ala441=)
n.3810G=
c.104G=
c.7195G= (p.Ala2399=)
c.7165G= (p.Ala2389=)
c.7102G= (p.Ala2368=)
c.6100G= (p.Ala2034=)
c.548G=
c.7301G= (n.7301G=)
c.308G=
n.407G=
c.7156G= (p.Ala2386=)
c.7132G= (p.Ala2378=)
c.7192G= (p.Ala2398=)
17g.31343111G>TCA399015737NF1c.7147G>T (p.Ala2383Ser)
c.1729G>T (p.Ala577Ser)
c.1321G>T (p.Ala441Ser)
n.3810G>T
c.104G>T
c.7195G>T (p.Ala2399Ser)
c.7165G>T (p.Ala2389Ser)
c.7102G>T (p.Ala2368Ser)
c.6100G>T (p.Ala2034Ser)
c.548G>T
c.7301G>T (n.7301G>T)
c.308G>T
n.407G>T
c.7156G>T (p.Ala2386Ser)
c.7132G>T (p.Ala2378Ser)
c.7192G>T (p.Ala2398Ser)
 ClinVar dbSNP
17g.31343111_31343112insGTTAAAGTTTAACTTTCTCA2573332433NF1c.7147_7148insGTTAAAGTTTAACTTTCT (p.Ala2383GlyfsTer2)
c.1729_1730insGTTAAAGTTTAACTTTCT (p.Ala577GlyfsTer2)
c.1321_1322insGTTAAAGTTTAACTTTCT (p.Ala441GlyfsTer2)
n.3810_3811insGTTAAAGTTTAACTTTCT
c.104_105insGTTAAAGTTTAACTTTCT
c.7195_7196insGTTAAAGTTTAACTTTCT (p.Ala2399GlyfsTer2)
c.7165_7166insGTTAAAGTTTAACTTTCT (p.Ala2389GlyfsTer2)
c.7102_7103insGTTAAAGTTTAACTTTCT (p.Ala2368GlyfsTer2)
c.6100_6101insGTTAAAGTTTAACTTTCT (p.Ala2034GlyfsTer2)
c.548_549insGTTAAAGTTTAACTTTCT
c.7301_7302insGTTAAAGTTTAACTTTCT (n.7301_7302insGTTAAAGTTTAACTTTCT)
c.308_309insGTTAAAGTTTAACTTTCT
n.407_408insGTTAAAGTTTAACTTTCT
c.7156_7157insGTTAAAGTTTAACTTTCT (p.Ala2386GlyfsTer2)
c.7132_7133insGTTAAAGTTTAACTTTCT (p.Ala2378GlyfsTer2)
c.7192_7193insGTTAAAGTTTAACTTTCT (p.Ala2398GlyfsTer2)
17g.31343112C>ACA399015740NF1c.7148C>A (p.Ala2383Glu)
c.1730C>A (p.Ala577Glu)
c.1322C>A (p.Ala441Glu)
n.3811C>A
c.105C>A
c.7196C>A (p.Ala2399Glu)
c.7166C>A (p.Ala2389Glu)
c.7103C>A (p.Ala2368Glu)
c.6101C>A (p.Ala2034Glu)
c.549C>A
c.7302C>A (n.7302C>A)
c.309C>A
n.408C>A
c.7157C>A (p.Ala2386Glu)
c.7133C>A (p.Ala2378Glu)
c.7193C>A (p.Ala2398Glu)
17g.31343112C>GCA399015741NF1c.7148C>G (p.Ala2383Gly)
c.1730C>G (p.Ala577Gly)
c.1322C>G (p.Ala441Gly)
n.3811C>G
c.105C>G
c.7196C>G (p.Ala2399Gly)
c.7166C>G (p.Ala2389Gly)
c.7103C>G (p.Ala2368Gly)
c.6101C>G (p.Ala2034Gly)
c.549C>G
c.7302C>G (n.7302C>G)
c.309C>G
n.408C>G
c.7157C>G (p.Ala2386Gly)
c.7133C>G (p.Ala2378Gly)
c.7193C>G (p.Ala2398Gly)
 dbSNP
17g.31343112C>TCA399015742NF1c.7148C>T (p.Ala2383Val)
c.1730C>T (p.Ala577Val)
c.1322C>T (p.Ala441Val)
n.3811C>T
c.105C>T
c.7196C>T (p.Ala2399Val)
c.7166C>T (p.Ala2389Val)
c.7103C>T (p.Ala2368Val)
c.6101C>T (p.Ala2034Val)
c.549C>T
c.7302C>T (n.7302C>T)
c.309C>T
n.408C>T
c.7157C>T (p.Ala2386Val)
c.7133C>T (p.Ala2378Val)
c.7193C>T (p.Ala2398Val)
 dbSNP
17g.31343113delCA2580093269NF1c.7149del (p.Leu2384TrpfsTer6)
c.1731del (p.Leu578TrpfsTer6)
c.1323del (p.Leu442TrpfsTer6)
n.3812del
c.106del
c.7197del (p.Leu2400TrpfsTer6)
c.7167del (p.Leu2390TrpfsTer6)
c.7104del (p.Leu2369TrpfsTer6)
c.6102del (p.Leu2035TrpfsTer6)
c.550del
c.7303del (n.7303del)
c.310del
n.409del
c.7158del (p.Leu2387TrpfsTer6)
c.7134del (p.Leu2379TrpfsTer6)
c.7194del (p.Leu2399TrpfsTer6)
 ClinVar
17g.31343113A=CA2255605120NF1c.7149A= (p.Ala2383=)
c.1731A= (p.Ala577=)
c.1323A= (p.Ala441=)
n.3812A=
c.106A=
c.7197A= (p.Ala2399=)
c.7167A= (p.Ala2389=)
c.7104A= (p.Ala2368=)
c.6102A= (p.Ala2034=)
c.550A=
c.7303A= (n.7303A=)
c.310A=
n.409A=
c.7158A= (p.Ala2386=)
c.7134A= (p.Ala2378=)
c.7194A= (p.Ala2398=)
17g.31343113A>CCA499236849NF1c.7149A>C (p.Ala2383=)
c.1731A>C (p.Ala577=)
c.1323A>C (p.Ala441=)
n.3812A>C
c.106A>C
c.7197A>C (p.Ala2399=)
c.7167A>C (p.Ala2389=)
c.7104A>C (p.Ala2368=)
c.6102A>C (p.Ala2034=)
c.550A>C
c.7303A>C (n.7303A>C)
c.310A>C
n.409A>C
c.7158A>C (p.Ala2386=)
c.7134A>C (p.Ala2378=)
c.7194A>C (p.Ala2398=)
 ClinVar dbSNP gnomAD v4
17g.31343113A>GCA499236850NF1c.7149A>G (p.Ala2383=)
c.1731A>G (p.Ala577=)
c.1323A>G (p.Ala441=)
n.3812A>G
c.106A>G
c.7197A>G (p.Ala2399=)
c.7167A>G (p.Ala2389=)
c.7104A>G (p.Ala2368=)
c.6102A>G (p.Ala2034=)
c.550A>G
c.7303A>G (n.7303A>G)
c.310A>G
n.409A>G
c.7158A>G (p.Ala2386=)
c.7134A>G (p.Ala2378=)
c.7194A>G (p.Ala2398=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31343113A>TCA499236851NF1c.7149A>T (p.Ala2383=)
c.1731A>T (p.Ala577=)
c.1323A>T (p.Ala441=)
n.3812A>T
c.106A>T
c.7197A>T (p.Ala2399=)
c.7167A>T (p.Ala2389=)
c.7104A>T (p.Ala2368=)
c.6102A>T (p.Ala2034=)
c.550A>T
c.7303A>T (n.7303A>T)
c.310A>T
n.409A>T
c.7158A>T (p.Ala2386=)
c.7134A>T (p.Ala2378=)
c.7194A>T (p.Ala2398=)
 dbSNP
17g.31343114T>ACA399015743NF1c.7150T>A (p.Leu2384Met)
c.1732T>A (p.Leu578Met)
c.1324T>A (p.Leu442Met)
n.3813T>A
c.107T>A
c.7198T>A (p.Leu2400Met)
c.7168T>A (p.Leu2390Met)
c.7105T>A (p.Leu2369Met)
c.6103T>A (p.Leu2035Met)
c.551T>A
c.7304T>A (n.7304T>A)
c.311T>A
n.410T>A
c.7159T>A (p.Leu2387Met)
c.7135T>A (p.Leu2379Met)
c.7195T>A (p.Leu2399Met)
 dbSNP
17g.31343114T>CCA499236852NF1c.7150T>C (p.Leu2384=)
c.1732T>C (p.Leu578=)
c.1324T>C (p.Leu442=)
n.3813T>C
c.107T>C
c.7198T>C (p.Leu2400=)
c.7168T>C (p.Leu2390=)
c.7105T>C (p.Leu2369=)
c.6103T>C (p.Leu2035=)
c.551T>C
c.7304T>C (n.7304T>C)
c.311T>C
n.410T>C
c.7159T>C (p.Leu2387=)
c.7135T>C (p.Leu2379=)
c.7195T>C (p.Leu2399=)
17g.31343114T>GCA399015744NF1c.7150T>G (p.Leu2384Val)
c.1732T>G (p.Leu578Val)
c.1324T>G (p.Leu442Val)
n.3813T>G
c.107T>G
c.7198T>G (p.Leu2400Val)
c.7168T>G (p.Leu2390Val)
c.7105T>G (p.Leu2369Val)
c.6103T>G (p.Leu2035Val)
c.551T>G
c.7304T>G (n.7304T>G)
c.311T>G
n.410T>G
c.7159T>G (p.Leu2387Val)
c.7135T>G (p.Leu2379Val)
c.7195T>G (p.Leu2399Val)
17g.31343114_31343124delinsTTGGTTGGACACA2255605121NF1c.7150_7160delinsTTGGTTGGACA (p.Leu2384=)
c.1732_1742delinsTTGGTTGGACA (p.Leu578=)
c.1324_1334delinsTTGGTTGGACA (p.Leu442=)
n.3813_3823delinsTTGGTTGGACA
c.107_117delinsTTGGTTGGACA
c.7198_7208delinsTTGGTTGGACA (p.Leu2400=)
c.7168_7178delinsTTGGTTGGACA (p.Leu2390=)
c.7105_7115delinsTTGGTTGGACA (p.Leu2369=)
c.6103_6113delinsTTGGTTGGACA (p.Leu2035=)
c.551_561delinsTTGGTTGGACA
c.7304_7314delinsTTGGTTGGACA (n.7304_7314delinsTTGGTTGGACA)
c.311_321delinsTTGGTTGGACA
n.410_420delinsTTGGTTGGACA
c.7159_7169delinsTTGGTTGGACA (p.Leu2387=)
c.7135_7145delinsTTGGTTGGACA (p.Leu2379=)
c.7195_7205delinsTTGGTTGGACA (p.Leu2399=)
17g.31343115T>ACA399015745NF1c.7151T>A (p.Leu2384Ter)
c.1733T>A (p.Leu578Ter)
c.1325T>A (p.Leu442Ter)
n.3814T>A
c.108T>A
c.7199T>A (p.Leu2400Ter)
c.7169T>A (p.Leu2390Ter)
c.7106T>A (p.Leu2369Ter)
c.6104T>A (p.Leu2035Ter)
c.552T>A
c.7305T>A (n.7305T>A)
c.312T>A
n.411T>A
c.7160T>A (p.Leu2387Ter)
c.7136T>A (p.Leu2379Ter)
c.7196T>A (p.Leu2399Ter)
 dbSNP
17g.31343115T>CCA399015746NF1c.7151T>C (p.Leu2384Ser)
c.1733T>C (p.Leu578Ser)
c.1325T>C (p.Leu442Ser)
n.3814T>C
c.108T>C
c.7199T>C (p.Leu2400Ser)
c.7169T>C (p.Leu2390Ser)
c.7106T>C (p.Leu2369Ser)
c.6104T>C (p.Leu2035Ser)
c.552T>C
c.7305T>C (n.7305T>C)
c.312T>C
n.411T>C
c.7160T>C (p.Leu2387Ser)
c.7136T>C (p.Leu2379Ser)
c.7196T>C (p.Leu2399Ser)
17g.31343115T>GCA399015747NF1c.7151T>G (p.Leu2384Trp)
c.1733T>G (p.Leu578Trp)
c.1325T>G (p.Leu442Trp)
n.3814T>G
c.108T>G
c.7199T>G (p.Leu2400Trp)
c.7169T>G (p.Leu2390Trp)
c.7106T>G (p.Leu2369Trp)
c.6104T>G (p.Leu2035Trp)
c.552T>G
c.7305T>G (n.7305T>G)
c.312T>G
n.411T>G
c.7160T>G (p.Leu2387Trp)
c.7136T>G (p.Leu2379Trp)
c.7196T>G (p.Leu2399Trp)
 ClinVar dbSNP
17g.31343115T=CA2255605122NF1c.7151T= (p.Leu2384=)
c.1733T= (p.Leu578=)
c.1325T= (p.Leu442=)
n.3814T=
c.108T=
c.7199T= (p.Leu2400=)
c.7169T= (p.Leu2390=)
c.7106T= (p.Leu2369=)
c.6104T= (p.Leu2035=)
c.552T=
c.7305T= (n.7305T=)
c.312T=
n.411T=
c.7160T= (p.Leu2387=)
c.7136T= (p.Leu2379=)
c.7196T= (p.Leu2399=)
17g.31343115_31343124delinsCAGCCA658824593NF1c.7151_7160delinsCAGC (p.Leu2384_His2387delinsSerAla)
c.1733_1742delinsCAGC (p.Leu578_His581delinsSerAla)
c.1325_1334delinsCAGC (p.Leu442_His445delinsSerAla)
n.3814_3823delinsCAGC
c.108_117delinsCAGC
c.7199_7208delinsCAGC (p.Leu2400_His2403delinsSerAla)
c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla)
c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla)
c.6104_6113delinsCAGC (p.Leu2035_His2038delinsSerAla)
c.552_561delinsCAGC
c.7305_7314delinsCAGC (n.7305_7314delinsCAGC)
c.312_321delinsCAGC
n.411_420delinsCAGC
c.7160_7169delinsCAGC (p.Leu2387_His2390delinsSerAla)
c.7136_7145delinsCAGC (p.Leu2379_His2382delinsSerAla)
c.7196_7205delinsCAGC (p.Leu2399_His2402delinsSerAla)
 ClinVar dbSNP
17g.31343115_31343116insAACCCA2573054400NF1c.7151_7152insAACC (p.Val2385ThrfsTer?)
c.1733_1734insAACC (p.Val579ThrfsTer?)
c.1325_1326insAACC (p.Val443ThrfsTer?)
n.3814_3815insAACC
c.108_109insAACC
c.7199_7200insAACC (p.Val2401ThrfsTer?)
c.7169_7170insAACC (p.Val2391ThrfsTer?)
c.7106_7107insAACC (p.Val2370ThrfsTer?)
c.6104_6105insAACC (p.Val2036ThrfsTer?)
c.552_553insAACC
c.7305_7306insAACC (n.7305_7306insAACC)
c.312_313insAACC
n.411_412insAACC
c.7160_7161insAACC (p.Val2388ThrfsTer?)
c.7136_7137insAACC (p.Val2380ThrfsTer?)
c.7196_7197insAACC (p.Val2400ThrfsTer?)
 ClinVar dbSNP
17g.31343116G>ACA499236853NF1c.7152G>A (p.Leu2384=)
c.1734G>A (p.Leu578=)
c.1326G>A (p.Leu442=)
n.3815G>A
c.109G>A
c.7200G>A (p.Leu2400=)
c.7170G>A (p.Leu2390=)
c.7107G>A (p.Leu2369=)
c.6105G>A (p.Leu2035=)
c.553G>A
c.7306G>A (n.7306G>A)
c.313G>A
n.412G>A
c.7161G>A (p.Leu2387=)
c.7137G>A (p.Leu2379=)
c.7197G>A (p.Leu2399=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31343116G>CCA399015748NF1c.7152G>C (p.Leu2384Phe)
c.1734G>C (p.Leu578Phe)
c.1326G>C (p.Leu442Phe)
n.3815G>C
c.109G>C
c.7200G>C (p.Leu2400Phe)
c.7170G>C (p.Leu2390Phe)
c.7107G>C (p.Leu2369Phe)
c.6105G>C (p.Leu2035Phe)
c.553G>C
c.7306G>C (n.7306G>C)
c.313G>C
n.412G>C
c.7161G>C (p.Leu2387Phe)
c.7137G>C (p.Leu2379Phe)
c.7197G>C (p.Leu2399Phe)
 ClinVar dbSNP
17g.31343116G=CA2255605123NF1c.7152G= (p.Leu2384=)
c.1734G= (p.Leu578=)
c.1326G= (p.Leu442=)
n.3815G=
c.109G=
c.7200G= (p.Leu2400=)
c.7170G= (p.Leu2390=)
c.7107G= (p.Leu2369=)
c.6105G= (p.Leu2035=)
c.553G=
c.7306G= (n.7306G=)
c.313G=
n.412G=
c.7161G= (p.Leu2387=)
c.7137G= (p.Leu2379=)
c.7197G= (p.Leu2399=)
17g.31343116G>TCA8487505NF1c.7152G>T (p.Leu2384Phe)
c.1734G>T (p.Leu578Phe)
c.1326G>T (p.Leu442Phe)
n.3815G>T
c.109G>T
c.7200G>T (p.Leu2400Phe)
c.7170G>T (p.Leu2390Phe)
c.7107G>T (p.Leu2369Phe)
c.6105G>T (p.Leu2035Phe)
c.553G>T
c.7306G>T (n.7306G>T)
c.313G>T
n.412G>T
c.7161G>T (p.Leu2387Phe)
c.7137G>T (p.Leu2379Phe)
c.7197G>T (p.Leu2399Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343117delCA2499224214NF1c.7153del (p.Val2385LeufsTer5)
c.1735del (p.Val579LeufsTer5)
c.1327del (p.Val443LeufsTer5)
n.3816del
c.110del
c.7201del (p.Val2401LeufsTer5)
c.7171del (p.Val2391LeufsTer5)
c.7108del (p.Val2370LeufsTer5)
c.6106del (p.Val2036LeufsTer5)
c.554del
c.7307del (n.7307del)
c.314del
n.413del
c.7162del (p.Val2388LeufsTer5)
c.7138del (p.Val2380LeufsTer5)
c.7198del (p.Val2400LeufsTer5)
 ClinVar dbSNP
17g.31343117G>ACA399015749NF1c.7153G>A (p.Val2385Ile)
c.1735G>A (p.Val579Ile)
c.1327G>A (p.Val443Ile)
n.3816G>A
c.110G>A
c.7201G>A (p.Val2401Ile)
c.7171G>A (p.Val2391Ile)
c.7108G>A (p.Val2370Ile)
c.6106G>A (p.Val2036Ile)
c.554G>A
c.7307G>A (n.7307G>A)
c.314G>A
n.413G>A
c.7162G>A (p.Val2388Ile)
c.7138G>A (p.Val2380Ile)
c.7198G>A (p.Val2400Ile)
 dbSNP gnomAD v3 gnomAD v4
17g.31343117G>CCA399015750NF1c.7153G>C (p.Val2385Leu)
c.1735G>C (p.Val579Leu)
c.1327G>C (p.Val443Leu)
n.3816G>C
c.110G>C
c.7201G>C (p.Val2401Leu)
c.7171G>C (p.Val2391Leu)
c.7108G>C (p.Val2370Leu)
c.6106G>C (p.Val2036Leu)
c.554G>C
c.7307G>C (n.7307G>C)
c.314G>C
n.413G>C
c.7162G>C (p.Val2388Leu)
c.7138G>C (p.Val2380Leu)
c.7198G>C (p.Val2400Leu)
 dbSNP
17g.31343117G=CA2255605124NF1c.7153G= (p.Val2385=)
c.1735G= (p.Val579=)
c.1327G= (p.Val443=)
n.3816G=
c.110G=
c.7201G= (p.Val2401=)
c.7171G= (p.Val2391=)
c.7108G= (p.Val2370=)
c.6106G= (p.Val2036=)
c.554G=
c.7307G= (n.7307G=)
c.314G=
n.413G=
c.7162G= (p.Val2388=)
c.7138G= (p.Val2380=)
c.7198G= (p.Val2400=)
17g.31343117G>TCA399015751NF1c.7153G>T (p.Val2385Phe)
c.1735G>T (p.Val579Phe)
c.1327G>T (p.Val443Phe)
n.3816G>T
c.110G>T
c.7201G>T (p.Val2401Phe)
c.7171G>T (p.Val2391Phe)
c.7108G>T (p.Val2370Phe)
c.6106G>T (p.Val2036Phe)
c.554G>T
c.7307G>T (n.7307G>T)
c.314G>T
n.413G>T
c.7162G>T (p.Val2388Phe)
c.7138G>T (p.Val2380Phe)
c.7198G>T (p.Val2400Phe)
 dbSNP COSMIC
17g.31343118T>ACA399015754NF1c.7154T>A (p.Val2385Asp)
c.1736T>A (p.Val579Asp)
c.1328T>A (p.Val443Asp)
n.3817T>A
c.111T>A
c.7202T>A (p.Val2401Asp)
c.7172T>A (p.Val2391Asp)
c.7109T>A (p.Val2370Asp)
c.6107T>A (p.Val2036Asp)
c.555T>A
c.7308T>A (n.7308T>A)
c.315T>A
n.414T>A
c.7163T>A (p.Val2388Asp)
c.7139T>A (p.Val2380Asp)
c.7199T>A (p.Val2400Asp)
 ClinVar dbSNP
17g.31343118T>CCA399015752NF1c.7154T>C (p.Val2385Ala)
c.1736T>C (p.Val579Ala)
c.1328T>C (p.Val443Ala)
n.3817T>C
c.111T>C
c.7202T>C (p.Val2401Ala)
c.7172T>C (p.Val2391Ala)
c.7109T>C (p.Val2370Ala)
c.6107T>C (p.Val2036Ala)
c.555T>C
c.7308T>C (n.7308T>C)
c.315T>C
n.414T>C
c.7163T>C (p.Val2388Ala)
c.7139T>C (p.Val2380Ala)
c.7199T>C (p.Val2400Ala)
 ClinVar dbSNP COSMIC
17g.31343118T>GCA399015753NF1c.7154T>G (p.Val2385Gly)
c.1736T>G (p.Val579Gly)
c.1328T>G (p.Val443Gly)
n.3817T>G
c.111T>G
c.7202T>G (p.Val2401Gly)
c.7172T>G (p.Val2391Gly)
c.7109T>G (p.Val2370Gly)
c.6107T>G (p.Val2036Gly)
c.555T>G
c.7308T>G (n.7308T>G)
c.315T>G
n.414T>G
c.7163T>G (p.Val2388Gly)
c.7139T>G (p.Val2380Gly)
c.7199T>G (p.Val2400Gly)
17g.31343118T=CA2255605125NF1c.7154T= (p.Val2385=)
c.1736T= (p.Val579=)
c.1328T= (p.Val443=)
n.3817T=
c.111T=
c.7202T= (p.Val2401=)
c.7172T= (p.Val2391=)
c.7109T= (p.Val2370=)
c.6107T= (p.Val2036=)
c.555T=
c.7308T= (n.7308T=)
c.315T=
n.414T=
c.7163T= (p.Val2388=)
c.7139T= (p.Val2380=)
c.7199T= (p.Val2400=)
17g.31343119dupCA2580093272NF1c.7155dup (p.Gly2386TrpfsTer30)
c.1737dup (p.Gly580TrpfsTer30)
c.1329dup (p.Gly444TrpfsTer30)
n.3818dup
c.112dup
c.7203dup (p.Gly2402TrpfsTer30)
c.7173dup (p.Gly2392TrpfsTer30)
c.7110dup (p.Gly2371TrpfsTer30)
c.6108dup (p.Gly2037TrpfsTer30)
c.556dup
c.7309dup (n.7309dup)
c.316dup
n.415dup
c.7164dup (p.Gly2389TrpfsTer30)
c.7140dup (p.Gly2381TrpfsTer30)
c.7200dup (p.Gly2401TrpfsTer30)
 ClinVar
17g.31343119T>ACA499236856NF1c.7155T>A (p.Val2385=)
c.1737T>A (p.Val579=)
c.1329T>A (p.Val443=)
n.3818T>A
c.112T>A
c.7203T>A (p.Val2401=)
c.7173T>A (p.Val2391=)
c.7110T>A (p.Val2370=)
c.6108T>A (p.Val2036=)
c.556T>A
c.7309T>A (n.7309T>A)
c.316T>A
n.415T>A
c.7164T>A (p.Val2388=)
c.7140T>A (p.Val2380=)
c.7200T>A (p.Val2400=)
17g.31343119T>CCA499236855NF1c.7155T>C (p.Val2385=)
c.1737T>C (p.Val579=)
c.1329T>C (p.Val443=)
n.3818T>C
c.112T>C
c.7203T>C (p.Val2401=)
c.7173T>C (p.Val2391=)
c.7110T>C (p.Val2370=)
c.6108T>C (p.Val2036=)
c.556T>C
c.7309T>C (n.7309T>C)
c.316T>C
n.415T>C
c.7164T>C (p.Val2388=)
c.7140T>C (p.Val2380=)
c.7200T>C (p.Val2400=)
17g.31343119T>GCA499236854NF1c.7155T>G (p.Val2385=)
c.1737T>G (p.Val579=)
c.1329T>G (p.Val443=)
n.3818T>G
c.112T>G
c.7203T>G (p.Val2401=)
c.7173T>G (p.Val2391=)
c.7110T>G (p.Val2370=)
c.6108T>G (p.Val2036=)
c.556T>G
c.7309T>G (n.7309T>G)
c.316T>G
n.415T>G
c.7164T>G (p.Val2388=)
c.7140T>G (p.Val2380=)
c.7200T>G (p.Val2400=)
17g.31343119_31343120delCA2499224215NF1c.7155_7156del (p.Gly2386ThrfsTer29)
c.1737_1738del (p.Gly580ThrfsTer29)
c.1329_1330del (p.Gly444ThrfsTer29)
n.3818_3819del
c.112_113del
c.7203_7204del (p.Gly2402ThrfsTer29)
c.7173_7174del (p.Gly2392ThrfsTer29)
c.7110_7111del (p.Gly2371ThrfsTer29)
c.6108_6109del (p.Gly2037ThrfsTer29)
c.556_557del
c.7309_7310del (n.7309_7310del)
c.316_317del
n.415_416del
c.7164_7165del (p.Gly2389ThrfsTer29)
c.7140_7141del (p.Gly2381ThrfsTer29)
c.7200_7201del (p.Gly2401ThrfsTer29)
 ClinVar dbSNP
17g.31343119_31343120delinsTGCA2255605126NF1c.7155_7156delinsTG (p.Val2385=)
c.1737_1738delinsTG (p.Val579=)
c.1329_1330delinsTG (p.Val443=)
n.3818_3819delinsTG
c.112_113delinsTG
c.7203_7204delinsTG (p.Val2401=)
c.7173_7174delinsTG (p.Val2391=)
c.7110_7111delinsTG (p.Val2370=)
c.6108_6109delinsTG (p.Val2036=)
c.556_557delinsTG
c.7309_7310delinsTG (n.7309_7310delinsTG)
c.316_317delinsTG
n.415_416delinsTG
c.7164_7165delinsTG (p.Val2388=)
c.7140_7141delinsTG (p.Val2380=)
c.7200_7201delinsTG (p.Val2400=)
17g.31343120G>ACA399015755NF1c.7156G>A (p.Gly2386Arg)
c.1738G>A (p.Gly580Arg)
c.1330G>A (p.Gly444Arg)
n.3819G>A
c.113G>A
c.7204G>A (p.Gly2402Arg)
c.7174G>A (p.Gly2392Arg)
c.7111G>A (p.Gly2371Arg)
c.6109G>A (p.Gly2037Arg)
c.557G>A
c.7310G>A (n.7310G>A)
c.317G>A
n.416G>A
c.7165G>A (p.Gly2389Arg)
c.7141G>A (p.Gly2381Arg)
c.7201G>A (p.Gly2401Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31343120G>CCA399015756NF1c.7156G>C (p.Gly2386Arg)
c.1738G>C (p.Gly580Arg)
c.1330G>C (p.Gly444Arg)
n.3819G>C
c.113G>C
c.7204G>C (p.Gly2402Arg)
c.7174G>C (p.Gly2392Arg)
c.7111G>C (p.Gly2371Arg)
c.6109G>C (p.Gly2037Arg)
c.557G>C
c.7310G>C (n.7310G>C)
c.317G>C
n.416G>C
c.7165G>C (p.Gly2389Arg)
c.7141G>C (p.Gly2381Arg)
c.7201G>C (p.Gly2401Arg)
 ClinVar dbSNP
17g.31343120G=CA2255605128NF1c.7156G= (p.Gly2386=)
c.1738G= (p.Gly580=)
c.1330G= (p.Gly444=)
n.3819G=
c.113G=
c.7204G= (p.Gly2402=)
c.7174G= (p.Gly2392=)
c.7111G= (p.Gly2371=)
c.6109G= (p.Gly2037=)
c.557G=
c.7310G= (n.7310G=)
c.317G=
n.416G=
c.7165G= (p.Gly2389=)
c.7141G= (p.Gly2381=)
c.7201G= (p.Gly2401=)
17g.31343120G>TCA399015757NF1c.7156G>T (p.Gly2386Ter)
c.1738G>T (p.Gly580Ter)
c.1330G>T (p.Gly444Ter)
n.3819G>T
c.113G>T
c.7204G>T (p.Gly2402Ter)
c.7174G>T (p.Gly2392Ter)
c.7111G>T (p.Gly2371Ter)
c.6109G>T (p.Gly2037Ter)
c.557G>T
c.7310G>T (n.7310G>T)
c.317G>T
n.416G>T
c.7165G>T (p.Gly2389Ter)
c.7141G>T (p.Gly2381Ter)
c.7201G>T (p.Gly2401Ter)
 ClinVar dbSNP
17g.31343121delCA2255605127NF1c.7157del (p.Gly2386AspfsTer4)
c.1739del (p.Gly580AspfsTer4)
c.1331del (p.Gly444AspfsTer4)
n.3820del
c.114del
c.7205del (p.Gly2402AspfsTer4)
c.7175del (p.Gly2392AspfsTer4)
c.7112del (p.Gly2371AspfsTer4)
c.6110del (p.Gly2037AspfsTer4)
c.558del
c.7311del (n.7311del)
c.318del
n.417del
c.7166del (p.Gly2389AspfsTer4)
c.7142del (p.Gly2381AspfsTer4)
c.7202del (p.Gly2401AspfsTer4)
 ClinVar dbSNP
17g.31343121G>ACA399015758NF1c.7157G>A (p.Gly2386Glu)
c.1739G>A (p.Gly580Glu)
c.1331G>A (p.Gly444Glu)
n.3820G>A
c.114G>A
c.7205G>A (p.Gly2402Glu)
c.7175G>A (p.Gly2392Glu)
c.7112G>A (p.Gly2371Glu)
c.6110G>A (p.Gly2037Glu)
c.558G>A
c.7311G>A (n.7311G>A)
c.318G>A
n.417G>A
c.7166G>A (p.Gly2389Glu)
c.7142G>A (p.Gly2381Glu)
c.7202G>A (p.Gly2401Glu)
 ClinVar dbSNP
17g.31343121G>CCA399015759NF1c.7157G>C (p.Gly2386Ala)
c.1739G>C (p.Gly580Ala)
c.1331G>C (p.Gly444Ala)
n.3820G>C
c.114G>C
c.7205G>C (p.Gly2402Ala)
c.7175G>C (p.Gly2392Ala)
c.7112G>C (p.Gly2371Ala)
c.6110G>C (p.Gly2037Ala)
c.558G>C
c.7311G>C (n.7311G>C)
c.318G>C
n.417G>C
c.7166G>C (p.Gly2389Ala)
c.7142G>C (p.Gly2381Ala)
c.7202G>C (p.Gly2401Ala)
 dbSNP
17g.31343121G>TCA399015760NF1c.7157G>T (p.Gly2386Val)
c.1739G>T (p.Gly580Val)
c.1331G>T (p.Gly444Val)
n.3820G>T
c.114G>T
c.7205G>T (p.Gly2402Val)
c.7175G>T (p.Gly2392Val)
c.7112G>T (p.Gly2371Val)
c.6110G>T (p.Gly2037Val)
c.558G>T
c.7311G>T (n.7311G>T)
c.318G>T
n.417G>T
c.7166G>T (p.Gly2389Val)
c.7142G>T (p.Gly2381Val)
c.7202G>T (p.Gly2401Val)
17g.31343122A>CCA499236857NF1c.7158A>C (p.Gly2386=)
c.1740A>C (p.Gly580=)
c.1332A>C (p.Gly444=)
n.3821A>C
c.115A>C
c.7206A>C (p.Gly2402=)
c.7176A>C (p.Gly2392=)
c.7113A>C (p.Gly2371=)
c.6111A>C (p.Gly2037=)
c.559A>C
c.7312A>C (n.7312A>C)
c.319A>C
n.418A>C
c.7167A>C (p.Gly2389=)
c.7143A>C (p.Gly2381=)
c.7203A>C (p.Gly2401=)
17g.31343122A>GCA499236858NF1c.7158A>G (p.Gly2386=)
c.1740A>G (p.Gly580=)
c.1332A>G (p.Gly444=)
n.3821A>G
c.115A>G
c.7206A>G (p.Gly2402=)
c.7176A>G (p.Gly2392=)
c.7113A>G (p.Gly2371=)
c.6111A>G (p.Gly2037=)
c.559A>G
c.7312A>G (n.7312A>G)
c.319A>G
n.418A>G
c.7167A>G (p.Gly2389=)
c.7143A>G (p.Gly2381=)
c.7203A>G (p.Gly2401=)
17g.31343122A>TCA499236859NF1c.7158A>T (p.Gly2386=)
c.1740A>T (p.Gly580=)
c.1332A>T (p.Gly444=)
n.3821A>T
c.115A>T
c.7206A>T (p.Gly2402=)
c.7176A>T (p.Gly2392=)
c.7113A>T (p.Gly2371=)
c.6111A>T (p.Gly2037=)
c.559A>T
c.7312A>T (n.7312A>T)
c.319A>T
n.418A>T
c.7167A>T (p.Gly2389=)
c.7143A>T (p.Gly2381=)
c.7203A>T (p.Gly2401=)
 dbSNP
17g.31343123C>ACA399015761NF1c.7159C>A (p.His2387Asn)
c.1741C>A (p.His581Asn)
c.1333C>A (p.His445Asn)
n.3822C>A
c.116C>A
c.7207C>A (p.His2403Asn)
c.7177C>A (p.His2393Asn)
c.7114C>A (p.His2372Asn)
c.6112C>A (p.His2038Asn)
c.560C>A
c.7313C>A (n.7313C>A)
c.320C>A
n.419C>A
c.7168C>A (p.His2390Asn)
c.7144C>A (p.His2382Asn)
c.7204C>A (p.His2402Asn)
17g.31343123C=CA2255605129NF1c.7159C= (p.His2387=)
c.1741C= (p.His581=)
c.1333C= (p.His445=)
n.3822C=
c.116C=
c.7207C= (p.His2403=)
c.7177C= (p.His2393=)
c.7114C= (p.His2372=)
c.6112C= (p.His2038=)
c.560C=
c.7313C= (n.7313C=)
c.320C=
n.419C=
c.7168C= (p.His2390=)
c.7144C= (p.His2382=)
c.7204C= (p.His2402=)
17g.31343123C>GCA399015762NF1c.7159C>G (p.His2387Asp)
c.1741C>G (p.His581Asp)
c.1333C>G (p.His445Asp)
n.3822C>G
c.116C>G
c.7207C>G (p.His2403Asp)
c.7177C>G (p.His2393Asp)
c.7114C>G (p.His2372Asp)
c.6112C>G (p.His2038Asp)
c.560C>G
c.7313C>G (n.7313C>G)
c.320C>G
n.419C>G
c.7168C>G (p.His2390Asp)
c.7144C>G (p.His2382Asp)
c.7204C>G (p.His2402Asp)
 dbSNP
17g.31343123C>TCA399015763NF1c.7159C>T (p.His2387Tyr)
c.1741C>T (p.His581Tyr)
c.1333C>T (p.His445Tyr)
n.3822C>T
c.116C>T
c.7207C>T (p.His2403Tyr)
c.7177C>T (p.His2393Tyr)
c.7114C>T (p.His2372Tyr)
c.6112C>T (p.His2038Tyr)
c.560C>T
c.7313C>T (n.7313C>T)
c.320C>T
n.419C>T
c.7168C>T (p.His2390Tyr)
c.7144C>T (p.His2382Tyr)
c.7204C>T (p.His2402Tyr)
 ClinVar dbSNP
17g.31343124delCA2695225451NF1c.7160del (p.His2387ProfsTer3)
c.1742del (p.His581ProfsTer3)
c.1334del (p.His445ProfsTer3)
n.3823del
c.117del
c.7208del (p.His2403ProfsTer3)
c.7178del (p.His2393ProfsTer3)
c.7115del (p.His2372ProfsTer3)
c.6113del (p.His2038ProfsTer3)
c.561del
c.7314del (n.7314del)
c.321del
n.420del
c.7169del (p.His2390ProfsTer3)
c.7145del (p.His2382ProfsTer3)
c.7205del (p.His2402ProfsTer3)
17g.31343124A=CA2255605130NF1c.7160A= (p.His2387=)
c.1742A= (p.His581=)
c.1334A= (p.His445=)
n.3823A=
c.117A=
c.7208A= (p.His2403=)
c.7178A= (p.His2393=)
c.7115A= (p.His2372=)
c.6113A= (p.His2038=)
c.561A=
c.7314A= (n.7314A=)
c.321A=
n.420A=
c.7169A= (p.His2390=)
c.7145A= (p.His2382=)
c.7205A= (p.His2402=)
17g.31343124A>CCA399015764NF1c.7160A>C (p.His2387Pro)
c.1742A>C (p.His581Pro)
c.1334A>C (p.His445Pro)
n.3823A>C
c.117A>C
c.7208A>C (p.His2403Pro)
c.7178A>C (p.His2393Pro)
c.7115A>C (p.His2372Pro)
c.6113A>C (p.His2038Pro)
c.561A>C
c.7314A>C (n.7314A>C)
c.321A>C
n.420A>C
c.7169A>C (p.His2390Pro)
c.7145A>C (p.His2382Pro)
c.7205A>C (p.His2402Pro)
 ClinVar
17g.31343124A>GCA399015765NF1c.7160A>G (p.His2387Arg)
c.1742A>G (p.His581Arg)
c.1334A>G (p.His445Arg)
n.3823A>G
c.117A>G
c.7208A>G (p.His2403Arg)
c.7178A>G (p.His2393Arg)
c.7115A>G (p.His2372Arg)
c.6113A>G (p.His2038Arg)
c.561A>G
c.7314A>G (n.7314A>G)
c.321A>G
n.420A>G
c.7169A>G (p.His2390Arg)
c.7145A>G (p.His2382Arg)
c.7205A>G (p.His2402Arg)
 ClinVar dbSNP
17g.31343124A>TCA399015766NF1c.7160A>T (p.His2387Leu)
c.1742A>T (p.His581Leu)
c.1334A>T (p.His445Leu)
n.3823A>T
c.117A>T
c.7208A>T (p.His2403Leu)
c.7178A>T (p.His2393Leu)
c.7115A>T (p.His2372Leu)
c.6113A>T (p.His2038Leu)
c.561A>T
c.7314A>T (n.7314A>T)
c.321A>T
n.420A>T
c.7169A>T (p.His2390Leu)
c.7145A>T (p.His2382Leu)
c.7205A>T (p.His2402Leu)
 dbSNP
17g.31343124dupCA2499224216NF1c.7160dup (p.His2387GlnfsTer29)
c.1742dup (p.His581GlnfsTer29)
c.1334dup (p.His445GlnfsTer29)
n.3823dup
c.117dup
c.7208dup (p.His2403GlnfsTer29)
c.7178dup (p.His2393GlnfsTer29)
c.7115dup (p.His2372GlnfsTer29)
c.6113dup (p.His2038GlnfsTer29)
c.561dup
c.7314dup (n.7314dup)
c.321dup
n.420dup
c.7169dup (p.His2390GlnfsTer29)
c.7145dup (p.His2382GlnfsTer29)
c.7205dup (p.His2402GlnfsTer29)
 ClinVar dbSNP
17g.31343125C>ACA399015767NF1c.7161C>A (p.His2387Gln)
c.1743C>A (p.His581Gln)
c.1335C>A (p.His445Gln)
n.3824C>A
c.118C>A
c.7209C>A (p.His2403Gln)
c.7179C>A (p.His2393Gln)
c.7116C>A (p.His2372Gln)
c.6114C>A (p.His2038Gln)
c.562C>A
c.7315C>A (n.7315C>A)
c.322C>A
n.421C>A
c.7170C>A (p.His2390Gln)
c.7146C>A (p.His2382Gln)
c.7206C>A (p.His2402Gln)
 ClinVar dbSNP
17g.31343125C=CA2255605131NF1c.7161C= (p.His2387=)
c.1743C= (p.His581=)
c.1335C= (p.His445=)
n.3824C=
c.118C=
c.7209C= (p.His2403=)
c.7179C= (p.His2393=)
c.7116C= (p.His2372=)
c.6114C= (p.His2038=)
c.562C=
c.7315C= (n.7315C=)
c.322C=
n.421C=
c.7170C= (p.His2390=)
c.7146C= (p.His2382=)
c.7206C= (p.His2402=)
17g.31343125C>GCA399015768NF1c.7161C>G (p.His2387Gln)
c.1743C>G (p.His581Gln)
c.1335C>G (p.His445Gln)
n.3824C>G
c.118C>G
c.7209C>G (p.His2403Gln)
c.7179C>G (p.His2393Gln)
c.7116C>G (p.His2372Gln)
c.6114C>G (p.His2038Gln)
c.562C>G
c.7315C>G (n.7315C>G)
c.322C>G
n.421C>G
c.7170C>G (p.His2390Gln)
c.7146C>G (p.His2382Gln)
c.7206C>G (p.His2402Gln)
 ClinVar dbSNP
17g.31343125C>TCA499236860NF1c.7161C>T (p.His2387=)
c.1743C>T (p.His581=)
c.1335C>T (p.His445=)
n.3824C>T
c.118C>T
c.7209C>T (p.His2403=)
c.7179C>T (p.His2393=)
c.7116C>T (p.His2372=)
c.6114C>T (p.His2038=)
c.562C>T
c.7315C>T (n.7315C>T)
c.322C>T
n.421C>T
c.7170C>T (p.His2390=)
c.7146C>T (p.His2382=)
c.7206C>T (p.His2402=)
 ClinVar dbSNP gnomAD v4
17g.31343126delCA2697559658NF1c.7162del (p.Leu2388PhefsTer2)
c.1744del (p.Leu582PhefsTer2)
c.1336del (p.Leu446PhefsTer2)
n.3825del
c.119del
c.7210del (p.Leu2404PhefsTer2)
c.7180del (p.Leu2394PhefsTer2)
c.7117del (p.Leu2373PhefsTer2)
c.6115del (p.Leu2039PhefsTer2)
c.563del
c.7316del (n.7316del)
c.323del
n.422del
c.7171del (p.Leu2391PhefsTer2)
c.7147del (p.Leu2383PhefsTer2)
c.7207del (p.Leu2403PhefsTer2)
 ClinVar
17g.31343126C>ACA399015769NF1c.7162C>A (p.Leu2388Ile)
c.1744C>A (p.Leu582Ile)
c.1336C>A (p.Leu446Ile)
n.3825C>A
c.119C>A
c.7210C>A (p.Leu2404Ile)
c.7180C>A (p.Leu2394Ile)
c.7117C>A (p.Leu2373Ile)
c.6115C>A (p.Leu2039Ile)
c.563C>A
c.7316C>A (n.7316C>A)
c.323C>A
n.422C>A
c.7171C>A (p.Leu2391Ile)
c.7147C>A (p.Leu2383Ile)
c.7207C>A (p.Leu2403Ile)
 ClinVar dbSNP
17g.31343126C=CA2255605132NF1c.7162C= (p.Leu2388=)
c.1744C= (p.Leu582=)
c.1336C= (p.Leu446=)
n.3825C=
c.119C=
c.7210C= (p.Leu2404=)
c.7180C= (p.Leu2394=)
c.7117C= (p.Leu2373=)
c.6115C= (p.Leu2039=)
c.563C=
c.7316C= (n.7316C=)
c.323C=
n.422C=
c.7171C= (p.Leu2391=)
c.7147C= (p.Leu2383=)
c.7207C= (p.Leu2403=)
17g.31343126C>GCA399015771NF1c.7162C>G (p.Leu2388Val)
c.1744C>G (p.Leu582Val)
c.1336C>G (p.Leu446Val)
n.3825C>G
c.119C>G
c.7210C>G (p.Leu2404Val)
c.7180C>G (p.Leu2394Val)
c.7117C>G (p.Leu2373Val)
c.6115C>G (p.Leu2039Val)
c.563C>G
c.7316C>G (n.7316C>G)
c.323C>G
n.422C>G
c.7171C>G (p.Leu2391Val)
c.7147C>G (p.Leu2383Val)
c.7207C>G (p.Leu2403Val)
 ClinVar dbSNP
17g.31343126C>TCA399015770NF1c.7162C>T (p.Leu2388Phe)
c.1744C>T (p.Leu582Phe)
c.1336C>T (p.Leu446Phe)
n.3825C>T
c.119C>T
c.7210C>T (p.Leu2404Phe)
c.7180C>T (p.Leu2394Phe)
c.7117C>T (p.Leu2373Phe)
c.6115C>T (p.Leu2039Phe)
c.563C>T
c.7316C>T (n.7316C>T)
c.323C>T
n.422C>T
c.7171C>T (p.Leu2391Phe)
c.7147C>T (p.Leu2383Phe)
c.7207C>T (p.Leu2403Phe)
17g.31343127T>ACA399015772NF1c.7163T>A (p.Leu2388His)
c.1745T>A (p.Leu582His)
c.1337T>A (p.Leu446His)
n.3826T>A
c.120T>A
c.7211T>A (p.Leu2404His)
c.7181T>A (p.Leu2394His)
c.7118T>A (p.Leu2373His)
c.6116T>A (p.Leu2039His)
c.564T>A
c.7317T>A (n.7317T>A)
c.324T>A
n.423T>A
c.7172T>A (p.Leu2391His)
c.7148T>A (p.Leu2383His)
c.7208T>A (p.Leu2403His)
 ClinVar dbSNP
17g.31343127T>CCA399015774NF1c.7163T>C (p.Leu2388Pro)
c.1745T>C (p.Leu582Pro)
c.1337T>C (p.Leu446Pro)
n.3826T>C
c.120T>C
c.7211T>C (p.Leu2404Pro)
c.7181T>C (p.Leu2394Pro)
c.7118T>C (p.Leu2373Pro)
c.6116T>C (p.Leu2039Pro)
c.564T>C
c.7317T>C (n.7317T>C)
c.324T>C
n.423T>C
c.7172T>C (p.Leu2391Pro)
c.7148T>C (p.Leu2383Pro)
c.7208T>C (p.Leu2403Pro)
 ClinVar dbSNP
17g.31343127T>GCA399015773NF1c.7163T>G (p.Leu2388Arg)
c.1745T>G (p.Leu582Arg)
c.1337T>G (p.Leu446Arg)
n.3826T>G
c.120T>G
c.7211T>G (p.Leu2404Arg)
c.7181T>G (p.Leu2394Arg)
c.7118T>G (p.Leu2373Arg)
c.6116T>G (p.Leu2039Arg)
c.564T>G
c.7317T>G (n.7317T>G)
c.324T>G
n.423T>G
c.7172T>G (p.Leu2391Arg)
c.7148T>G (p.Leu2383Arg)
c.7208T>G (p.Leu2403Arg)
 ClinVar dbSNP
17g.31343127T=CA2255605133NF1c.7163T= (p.Leu2388=)
c.1745T= (p.Leu582=)
c.1337T= (p.Leu446=)
n.3826T=
c.120T=
c.7211T= (p.Leu2404=)
c.7181T= (p.Leu2394=)
c.7118T= (p.Leu2373=)
c.6116T= (p.Leu2039=)
c.564T=
c.7317T= (n.7317T=)
c.324T=
n.423T=
c.7172T= (p.Leu2391=)
c.7148T= (p.Leu2383=)
c.7208T= (p.Leu2403=)
17g.31343130dupCA916080697NF1c.7166dup (p.Leu2389PhefsTer27)
c.1748dup (p.Leu583PhefsTer27)
c.1340dup (p.Leu447PhefsTer27)
n.3829dup
c.123dup
c.7214dup (p.Leu2405PhefsTer27)
c.7184dup (p.Leu2395PhefsTer27)
c.7121dup (p.Leu2374PhefsTer27)
c.6119dup (p.Leu2040PhefsTer27)
c.567dup
c.7320dup (n.7320dup)
c.327dup
n.426dup
c.7175dup (p.Leu2392PhefsTer27)
c.7151dup (p.Leu2384PhefsTer27)
c.7211dup (p.Leu2404PhefsTer27)
 ClinVar dbSNP
17g.31343129_31343130dupCA2695225453NF1c.7165_7166dup (p.Leu2389PhefsTer2)
c.1747_1748dup (p.Leu583PhefsTer2)
c.1339_1340dup (p.Leu447PhefsTer2)
n.3828_3829dup
c.122_123dup
c.7213_7214dup (p.Leu2405PhefsTer2)
c.7183_7184dup (p.Leu2395PhefsTer2)
c.7120_7121dup (p.Leu2374PhefsTer2)
c.6118_6119dup (p.Leu2040PhefsTer2)
c.566_567dup
c.7319_7320dup (n.7319_7320dup)
c.326_327dup
n.425_426dup
c.7174_7175dup (p.Leu2392PhefsTer2)
c.7150_7151dup (p.Leu2384PhefsTer2)
c.7210_7211dup (p.Leu2404PhefsTer2)
17g.31343130delCA499236861NF1c.7166del (p.Leu2389Ter)
c.1748del (p.Leu583Ter)
c.1340del (p.Leu447Ter)
n.3829del
c.123del
c.7214del (p.Leu2405Ter)
c.7184del (p.Leu2395Ter)
c.7121del (p.Leu2374Ter)
c.6119del (p.Leu2040Ter)
c.567del
c.7320del (n.7320del)
c.327del
n.426del
c.7175del (p.Leu2392Ter)
c.7151del (p.Leu2384Ter)
c.7211del (p.Leu2404Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.31343127_31343131delCA2695225452NF1c.7163_7167del (p.Leu2388GlnfsTer26)
c.1745_1749del (p.Leu582GlnfsTer26)
c.1337_1341del (p.Leu446GlnfsTer26)
n.3826_3830del
c.120_124del
c.7211_7215del (p.Leu2404GlnfsTer26)
c.7181_7185del (p.Leu2394GlnfsTer26)
c.7118_7122del (p.Leu2373GlnfsTer26)
c.6116_6120del (p.Leu2039GlnfsTer26)
c.564_568del
c.7317_7321del (n.7317_7321del)
c.324_328del
n.423_427del
c.7172_7176del (p.Leu2391GlnfsTer26)
c.7148_7152del (p.Leu2383GlnfsTer26)
c.7208_7212del (p.Leu2403GlnfsTer26)
17g.31343128T>ACA499236862NF1c.7164T>A (p.Leu2388=)
c.1746T>A (p.Leu582=)
c.1338T>A (p.Leu446=)
n.3827T>A
c.121T>A
c.7212T>A (p.Leu2404=)
c.7182T>A (p.Leu2394=)
c.7119T>A (p.Leu2373=)
c.6117T>A (p.Leu2039=)
c.565T>A
c.7318T>A (n.7318T>A)
c.325T>A
n.424T>A
c.7173T>A (p.Leu2391=)
c.7149T>A (p.Leu2383=)
c.7209T>A (p.Leu2403=)
17g.31343128T>CCA499236863NF1c.7164T>C (p.Leu2388=)
c.1746T>C (p.Leu582=)
c.1338T>C (p.Leu446=)
n.3827T>C
c.121T>C
c.7212T>C (p.Leu2404=)
c.7182T>C (p.Leu2394=)
c.7119T>C (p.Leu2373=)
c.6117T>C (p.Leu2039=)
c.565T>C
c.7318T>C (n.7318T>C)
c.325T>C
n.424T>C
c.7173T>C (p.Leu2391=)
c.7149T>C (p.Leu2383=)
c.7209T>C (p.Leu2403=)
17g.31343128T>GCA499236864NF1c.7164T>G (p.Leu2388=)
c.1746T>G (p.Leu582=)
c.1338T>G (p.Leu446=)
n.3827T>G
c.121T>G
c.7212T>G (p.Leu2404=)
c.7182T>G (p.Leu2394=)
c.7119T>G (p.Leu2373=)
c.6117T>G (p.Leu2039=)
c.565T>G
c.7318T>G (n.7318T>G)
c.325T>G
n.424T>G
c.7173T>G (p.Leu2391=)
c.7149T>G (p.Leu2383=)
c.7209T>G (p.Leu2403=)
17g.31343129T>ACA399015775NF1c.7165T>A (p.Leu2389Ile)
c.1747T>A (p.Leu583Ile)
c.1339T>A (p.Leu447Ile)
n.3828T>A
c.122T>A
c.7213T>A (p.Leu2405Ile)
c.7183T>A (p.Leu2395Ile)
c.7120T>A (p.Leu2374Ile)
c.6118T>A (p.Leu2040Ile)
c.566T>A
c.7319T>A (n.7319T>A)
c.326T>A
n.425T>A
c.7174T>A (p.Leu2392Ile)
c.7150T>A (p.Leu2384Ile)
c.7210T>A (p.Leu2404Ile)
17g.31343129T>CCA499236865NF1c.7165T>C (p.Leu2389=)
c.1747T>C (p.Leu583=)
c.1339T>C (p.Leu447=)
n.3828T>C
c.122T>C
c.7213T>C (p.Leu2405=)
c.7183T>C (p.Leu2395=)
c.7120T>C (p.Leu2374=)
c.6118T>C (p.Leu2040=)
c.566T>C
c.7319T>C (n.7319T>C)
c.326T>C
n.425T>C
c.7174T>C (p.Leu2392=)
c.7150T>C (p.Leu2384=)
c.7210T>C (p.Leu2404=)
17g.31343129T>GCA399015776NF1c.7165T>G (p.Leu2389Val)
c.1747T>G (p.Leu583Val)
c.1339T>G (p.Leu447Val)
n.3828T>G
c.122T>G
c.7213T>G (p.Leu2405Val)
c.7183T>G (p.Leu2395Val)
c.7120T>G (p.Leu2374Val)
c.6118T>G (p.Leu2040Val)
c.566T>G
c.7319T>G (n.7319T>G)
c.326T>G
n.425T>G
c.7174T>G (p.Leu2392Val)
c.7150T>G (p.Leu2384Val)
c.7210T>G (p.Leu2404Val)
 ClinVar dbSNP
17g.31343129T=CA2255605134NF1c.7165T= (p.Leu2389=)
c.1747T= (p.Leu583=)
c.1339T= (p.Leu447=)
n.3828T=
c.122T=
c.7213T= (p.Leu2405=)
c.7183T= (p.Leu2395=)
c.7120T= (p.Leu2374=)
c.6118T= (p.Leu2040=)
c.566T=
c.7319T= (n.7319T=)
c.326T=
n.425T=
c.7174T= (p.Leu2392=)
c.7150T= (p.Leu2384=)
c.7210T= (p.Leu2404=)
17g.31343130T>ACA399015777NF1c.7166T>A (p.Leu2389Ter)
c.1748T>A (p.Leu583Ter)
c.1340T>A (p.Leu447Ter)
n.3829T>A
c.123T>A
c.7214T>A (p.Leu2405Ter)
c.7184T>A (p.Leu2395Ter)
c.7121T>A (p.Leu2374Ter)
c.6119T>A (p.Leu2040Ter)
c.567T>A
c.7320T>A (n.7320T>A)
c.327T>A
n.426T>A
c.7175T>A (p.Leu2392Ter)
c.7151T>A (p.Leu2384Ter)
c.7211T>A (p.Leu2404Ter)
17g.31343130T>CCA399015778NF1c.7166T>C (p.Leu2389Ser)
c.1748T>C (p.Leu583Ser)
c.1340T>C (p.Leu447Ser)
n.3829T>C
c.123T>C
c.7214T>C (p.Leu2405Ser)
c.7184T>C (p.Leu2395Ser)
c.7121T>C (p.Leu2374Ser)
c.6119T>C (p.Leu2040Ser)
c.567T>C
c.7320T>C (n.7320T>C)
c.327T>C
n.426T>C
c.7175T>C (p.Leu2392Ser)
c.7151T>C (p.Leu2384Ser)
c.7211T>C (p.Leu2404Ser)
17g.31343130T>GCA399015779NF1c.7166T>G (p.Leu2389Ter)
c.1748T>G (p.Leu583Ter)
c.1340T>G (p.Leu447Ter)
n.3829T>G
c.123T>G
c.7214T>G (p.Leu2405Ter)
c.7184T>G (p.Leu2395Ter)
c.7121T>G (p.Leu2374Ter)
c.6119T>G (p.Leu2040Ter)
c.567T>G
c.7320T>G (n.7320T>G)
c.327T>G
n.426T>G
c.7175T>G (p.Leu2392Ter)
c.7151T>G (p.Leu2384Ter)
c.7211T>G (p.Leu2404Ter)
 ClinVar
17g.31343130_31343131delinsTACA2255605135NF1c.7166_7167delinsTA (p.Leu2389=)
c.1748_1749delinsTA (p.Leu583=)
c.1340_1341delinsTA (p.Leu447=)
n.3829_3830delinsTA
c.123_124delinsTA
c.7214_7215delinsTA (p.Leu2405=)
c.7184_7185delinsTA (p.Leu2395=)
c.7121_7122delinsTA (p.Leu2374=)
c.6119_6120delinsTA (p.Leu2040=)
c.567_568delinsTA
c.7320_7321delinsTA (n.7320_7321delinsTA)
c.327_328delinsTA
n.426_427delinsTA
c.7175_7176delinsTA (p.Leu2392=)
c.7151_7152delinsTA (p.Leu2384=)
c.7211_7212delinsTA (p.Leu2404=)
17g.31343131A=CA2255605136NF1c.7167A= (p.Leu2389=)
c.1749A= (p.Leu583=)
c.1341A= (p.Leu447=)
n.3830A=
c.124A=
c.7215A= (p.Leu2405=)
c.7185A= (p.Leu2395=)
c.7122A= (p.Leu2374=)
c.6120A= (p.Leu2040=)
c.568A=
c.7321A= (n.7321A=)
c.328A=
n.427A=
c.7176A= (p.Leu2392=)
c.7152A= (p.Leu2384=)
c.7212A= (p.Leu2404=)
17g.31343131A>CCA399015780NF1c.7167A>C (p.Leu2389Phe)
c.1749A>C (p.Leu583Phe)
c.1341A>C (p.Leu447Phe)
n.3830A>C
c.124A>C
c.7215A>C (p.Leu2405Phe)
c.7185A>C (p.Leu2395Phe)
c.7122A>C (p.Leu2374Phe)
c.6120A>C (p.Leu2040Phe)
c.568A>C
c.7321A>C (n.7321A>C)
c.328A>C
n.427A>C
c.7176A>C (p.Leu2392Phe)
c.7152A>C (p.Leu2384Phe)
c.7212A>C (p.Leu2404Phe)
17g.31343131A>GCA499236866NF1c.7167A>G (p.Leu2389=)
c.1749A>G (p.Leu583=)
c.1341A>G (p.Leu447=)
n.3830A>G
c.124A>G
c.7215A>G (p.Leu2405=)
c.7185A>G (p.Leu2395=)
c.7122A>G (p.Leu2374=)
c.6120A>G (p.Leu2040=)
c.568A>G
c.7321A>G (n.7321A>G)
c.328A>G
n.427A>G
c.7176A>G (p.Leu2392=)
c.7152A>G (p.Leu2384=)
c.7212A>G (p.Leu2404=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31343131A>TCA399015781NF1c.7167A>T (p.Leu2389Phe)
c.1749A>T (p.Leu583Phe)
c.1341A>T (p.Leu447Phe)
n.3830A>T
c.124A>T
c.7215A>T (p.Leu2405Phe)
c.7185A>T (p.Leu2395Phe)
c.7122A>T (p.Leu2374Phe)
c.6120A>T (p.Leu2040Phe)
c.568A>T
c.7321A>T (n.7321A>T)
c.328A>T
n.427A>T
c.7176A>T (p.Leu2392Phe)
c.7152A>T (p.Leu2384Phe)
c.7212A>T (p.Leu2404Phe)
17g.31343134dupCA2580093282NF1c.7170dup (p.Gly2391ArgfsTer25)
c.1752dup (p.Gly585ArgfsTer25)
c.1344dup (p.Gly449ArgfsTer25)
n.3833dup
c.127dup
c.7218dup (p.Gly2407ArgfsTer25)
c.7188dup (p.Gly2397ArgfsTer25)
c.7125dup (p.Gly2376ArgfsTer25)
c.6123dup (p.Gly2042ArgfsTer25)
c.571dup
c.7324dup (n.7324dup)
c.331dup
n.430dup
c.7179dup (p.Gly2394ArgfsTer25)
c.7155dup (p.Gly2386ArgfsTer25)
c.7215dup (p.Gly2406ArgfsTer25)
 ClinVar
17g.31343134delCA8487506NF1c.7170del (p.Tyr2392ThrfsTer20)
c.1752del (p.Tyr586ThrfsTer20)
c.1344del (p.Tyr450ThrfsTer20)
n.3833del
c.127del
c.7218del (p.Tyr2408ThrfsTer20)
c.7188del (p.Tyr2398ThrfsTer20)
c.7125del (p.Tyr2377ThrfsTer20)
c.6123del (p.Tyr2043ThrfsTer20)
c.571del
c.7324del (n.7324del)
c.331del
n.430del
c.7179del (p.Tyr2395ThrfsTer20)
c.7155del (p.Tyr2387ThrfsTer20)
c.7215del (p.Tyr2407ThrfsTer20)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343132A=CA2255605137NF1c.7168A= (p.Lys2390=)
c.1750A= (p.Lys584=)
c.1342A= (p.Lys448=)
n.3831A=
c.125A=
c.7216A= (p.Lys2406=)
c.7186A= (p.Lys2396=)
c.7123A= (p.Lys2375=)
c.6121A= (p.Lys2041=)
c.569A=
c.7322A= (n.7322A=)
c.329A=
n.428A=
c.7177A= (p.Lys2393=)
c.7153A= (p.Lys2385=)
c.7213A= (p.Lys2405=)
17g.31343132A>CCA399015782NF1c.7168A>C (p.Lys2390Gln)
c.1750A>C (p.Lys584Gln)
c.1342A>C (p.Lys448Gln)
n.3831A>C
c.125A>C
c.7216A>C (p.Lys2406Gln)
c.7186A>C (p.Lys2396Gln)
c.7123A>C (p.Lys2375Gln)
c.6121A>C (p.Lys2041Gln)
c.569A>C
c.7322A>C (n.7322A>C)
c.329A>C
n.428A>C
c.7177A>C (p.Lys2393Gln)
c.7153A>C (p.Lys2385Gln)
c.7213A>C (p.Lys2405Gln)
17g.31343132A>GCA399015783NF1c.7168A>G (p.Lys2390Glu)
c.1750A>G (p.Lys584Glu)
c.1342A>G (p.Lys448Glu)
n.3831A>G
c.125A>G
c.7216A>G (p.Lys2406Glu)
c.7186A>G (p.Lys2396Glu)
c.7123A>G (p.Lys2375Glu)
c.6121A>G (p.Lys2041Glu)
c.569A>G
c.7322A>G (n.7322A>G)
c.329A>G
n.428A>G
c.7177A>G (p.Lys2393Glu)
c.7153A>G (p.Lys2385Glu)
c.7213A>G (p.Lys2405Glu)
17g.31343132A>TCA399015784NF1c.7168A>T (p.Lys2390Ter)
c.1750A>T (p.Lys584Ter)
c.1342A>T (p.Lys448Ter)
n.3831A>T
c.125A>T
c.7216A>T (p.Lys2406Ter)
c.7186A>T (p.Lys2396Ter)
c.7123A>T (p.Lys2375Ter)
c.6121A>T (p.Lys2041Ter)
c.569A>T
c.7322A>T (n.7322A>T)
c.329A>T
n.428A>T
c.7177A>T (p.Lys2393Ter)
c.7153A>T (p.Lys2385Ter)
c.7213A>T (p.Lys2405Ter)
 ClinVar dbSNP COSMIC
17g.31343133A>CCA399015785NF1c.7169A>C (p.Lys2390Thr)
c.1751A>C (p.Lys584Thr)
c.1343A>C (p.Lys448Thr)
n.3832A>C
c.126A>C
c.7217A>C (p.Lys2406Thr)
c.7187A>C (p.Lys2396Thr)
c.7124A>C (p.Lys2375Thr)
c.6122A>C (p.Lys2041Thr)
c.570A>C
c.7323A>C (n.7323A>C)
c.330A>C
n.429A>C
c.7178A>C (p.Lys2393Thr)
c.7154A>C (p.Lys2385Thr)
c.7214A>C (p.Lys2405Thr)
17g.31343133A>GCA399015786NF1c.7169A>G (p.Lys2390Arg)
c.1751A>G (p.Lys584Arg)
c.1343A>G (p.Lys448Arg)
n.3832A>G
c.126A>G
c.7217A>G (p.Lys2406Arg)
c.7187A>G (p.Lys2396Arg)
c.7124A>G (p.Lys2375Arg)
c.6122A>G (p.Lys2041Arg)
c.570A>G
c.7323A>G (n.7323A>G)
c.330A>G
n.429A>G
c.7178A>G (p.Lys2393Arg)
c.7154A>G (p.Lys2385Arg)
c.7214A>G (p.Lys2405Arg)
17g.31343133A>TCA399015787NF1c.7169A>T (p.Lys2390Ile)
c.1751A>T (p.Lys584Ile)
c.1343A>T (p.Lys448Ile)
n.3832A>T
c.126A>T
c.7217A>T (p.Lys2406Ile)
c.7187A>T (p.Lys2396Ile)
c.7124A>T (p.Lys2375Ile)
c.6122A>T (p.Lys2041Ile)
c.570A>T
c.7323A>T (n.7323A>T)
c.330A>T
n.429A>T
c.7178A>T (p.Lys2393Ile)
c.7154A>T (p.Lys2385Ile)
c.7214A>T (p.Lys2405Ile)
17g.31343134A=CA2255605138NF1c.7170A= (p.Lys2390=)
c.1752A= (p.Lys584=)
c.1344A= (p.Lys448=)
n.3833A=
c.127A=
c.7218A= (p.Lys2406=)
c.7188A= (p.Lys2396=)
c.7125A= (p.Lys2375=)
c.6123A= (p.Lys2041=)
c.571A=
c.7324A= (n.7324A=)
c.331A=
n.430A=
c.7179A= (p.Lys2393=)
c.7155A= (p.Lys2385=)
c.7215A= (p.Lys2405=)
17g.31343134A>CCA399015789NF1c.7170A>C (p.Lys2390Asn)
c.1752A>C (p.Lys584Asn)
c.1344A>C (p.Lys448Asn)
n.3833A>C
c.127A>C
c.7218A>C (p.Lys2406Asn)
c.7188A>C (p.Lys2396Asn)
c.7125A>C (p.Lys2375Asn)
c.6123A>C (p.Lys2041Asn)
c.571A>C
c.7324A>C (n.7324A>C)
c.331A>C
n.430A>C
c.7179A>C (p.Lys2393Asn)
c.7155A>C (p.Lys2385Asn)
c.7215A>C (p.Lys2405Asn)
17g.31343134A>GCA289396303NF1c.7170A>G (p.Lys2390=)
c.1752A>G (p.Lys584=)
c.1344A>G (p.Lys448=)
n.3833A>G
c.127A>G
c.7218A>G (p.Lys2406=)
c.7188A>G (p.Lys2396=)
c.7125A>G (p.Lys2375=)
c.6123A>G (p.Lys2041=)
c.571A>G
c.7324A>G (n.7324A>G)
c.331A>G
n.430A>G
c.7179A>G (p.Lys2393=)
c.7155A>G (p.Lys2385=)
c.7215A>G (p.Lys2405=)
 ClinVar dbSNP
17g.31343134A>TCA399015788NF1c.7170A>T (p.Lys2390Asn)
c.1752A>T (p.Lys584Asn)
c.1344A>T (p.Lys448Asn)
n.3833A>T
c.127A>T
c.7218A>T (p.Lys2406Asn)
c.7188A>T (p.Lys2396Asn)
c.7125A>T (p.Lys2375Asn)
c.6123A>T (p.Lys2041Asn)
c.571A>T
c.7324A>T (n.7324A>T)
c.331A>T
n.430A>T
c.7179A>T (p.Lys2393Asn)
c.7155A>T (p.Lys2385Asn)
c.7215A>T (p.Lys2405Asn)
 dbSNP
17g.31343135G>ACA399015790NF1c.7171G>A (p.Gly2391Arg)
c.1753G>A (p.Gly585Arg)
c.1345G>A (p.Gly449Arg)
n.3834G>A
c.128G>A
c.7219G>A (p.Gly2407Arg)
c.7189G>A (p.Gly2397Arg)
c.7126G>A (p.Gly2376Arg)
c.6124G>A (p.Gly2042Arg)
c.572G>A
c.7325G>A (n.7325G>A)
c.332G>A
n.431G>A
c.7180G>A (p.Gly2394Arg)
c.7156G>A (p.Gly2386Arg)
c.7216G>A (p.Gly2406Arg)
 ClinVar dbSNP
17g.31343135G>CCA399015791NF1c.7171G>C (p.Gly2391Arg)
c.1753G>C (p.Gly585Arg)
c.1345G>C (p.Gly449Arg)
n.3834G>C
c.128G>C
c.7219G>C (p.Gly2407Arg)
c.7189G>C (p.Gly2397Arg)
c.7126G>C (p.Gly2376Arg)
c.6124G>C (p.Gly2042Arg)
c.572G>C
c.7325G>C (n.7325G>C)
c.332G>C
n.431G>C
c.7180G>C (p.Gly2394Arg)
c.7156G>C (p.Gly2386Arg)
c.7216G>C (p.Gly2406Arg)
 ClinVar dbSNP
17g.31343135G=CA2255605139NF1c.7171G= (p.Gly2391=)
c.1753G= (p.Gly585=)
c.1345G= (p.Gly449=)
n.3834G=
c.128G=
c.7219G= (p.Gly2407=)
c.7189G= (p.Gly2397=)
c.7126G= (p.Gly2376=)
c.6124G= (p.Gly2042=)
c.572G=
c.7325G= (n.7325G=)
c.332G=
n.431G=
c.7180G= (p.Gly2394=)
c.7156G= (p.Gly2386=)
c.7216G= (p.Gly2406=)
17g.31343135G>TCA399015792NF1c.7171G>T (p.Gly2391Trp)
c.1753G>T (p.Gly585Trp)
c.1345G>T (p.Gly449Trp)
n.3834G>T
c.128G>T
c.7219G>T (p.Gly2407Trp)
c.7189G>T (p.Gly2397Trp)
c.7126G>T (p.Gly2376Trp)
c.6124G>T (p.Gly2042Trp)
c.572G>T
c.7325G>T (n.7325G>T)
c.332G>T
n.431G>T
c.7180G>T (p.Gly2394Trp)
c.7156G>T (p.Gly2386Trp)
c.7216G>T (p.Gly2406Trp)
 ClinVar
17g.31343136G>ACA399015793NF1c.7171+1G>A (n.7171+1G>A)
c.1753+1G>A (n.1753+1G>A)
c.1345+1G>A (n.1345+1G>A)
n.3834+1G>A
c.128+1G>A
c.7219+1G>A (n.7219+1G>A)
c.7189+1G>A (n.7189+1G>A)
c.7126+1G>A (n.7126+1G>A)
c.6124+1G>A (n.6124+1G>A)
c.572+1G>A
c.7325+1G>A (n.7325+1G>A)
c.332+1G>A
n.431+1G>A
c.7180+1G>A (n.7180+1G>A)
c.7156+1G>A (n.7156+1G>A)
c.7216+1G>A (n.7216+1G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
17g.31343136G>CCA399015794NF1c.7171+1G>C (n.7171+1G>C)
c.1753+1G>C (n.1753+1G>C)
c.1345+1G>C (n.1345+1G>C)
n.3834+1G>C
c.128+1G>C
c.7219+1G>C (n.7219+1G>C)
c.7189+1G>C (n.7189+1G>C)
c.7126+1G>C (n.7126+1G>C)
c.6124+1G>C (n.6124+1G>C)
c.572+1G>C
c.7325+1G>C (n.7325+1G>C)
c.332+1G>C
n.431+1G>C
c.7180+1G>C (n.7180+1G>C)
c.7156+1G>C (n.7156+1G>C)
c.7216+1G>C (n.7216+1G>C)
 ClinVar dbSNP
17g.31343136G=CA2255605140NF1c.7171+1G= (n.7171+1G=)
c.1753+1G= (n.1753+1G=)
c.1345+1G= (n.1345+1G=)
n.3834+1G=
c.128+1G=
c.7219+1G= (n.7219+1G=)
c.7189+1G= (n.7189+1G=)
c.7126+1G= (n.7126+1G=)
c.6124+1G= (n.6124+1G=)
c.572+1G=
c.7325+1G= (n.7325+1G=)
c.332+1G=
n.431+1G=
c.7180+1G= (n.7180+1G=)
c.7156+1G= (n.7156+1G=)
c.7216+1G= (n.7216+1G=)
17g.31343136G>TCA399015795NF1c.7171+1G>T (n.7171+1G>T)
c.1753+1G>T (n.1753+1G>T)
c.1345+1G>T (n.1345+1G>T)
n.3834+1G>T
c.128+1G>T
c.7219+1G>T (n.7219+1G>T)
c.7189+1G>T (n.7189+1G>T)
c.7126+1G>T (n.7126+1G>T)
c.6124+1G>T (n.6124+1G>T)
c.572+1G>T
c.7325+1G>T (n.7325+1G>T)
c.332+1G>T
n.431+1G>T
c.7180+1G>T (n.7180+1G>T)
c.7156+1G>T (n.7156+1G>T)
c.7216+1G>T (n.7216+1G>T)
 ClinVar dbSNP gnomAD v4
17g.31343137T>ACA399015796NF1c.7171+2T>A (n.7171+2T>A)
c.1753+2T>A (n.1753+2T>A)
c.1345+2T>A (n.1345+2T>A)
n.3834+2T>A
c.128+2T>A
c.7219+2T>A (n.7219+2T>A)
c.7189+2T>A (n.7189+2T>A)
c.7126+2T>A (n.7126+2T>A)
c.6124+2T>A (n.6124+2T>A)
c.572+2T>A
c.7325+2T>A (n.7325+2T>A)
c.332+2T>A
n.431+2T>A
c.7180+2T>A (n.7180+2T>A)
c.7156+2T>A (n.7156+2T>A)
c.7216+2T>A (n.7216+2T>A)
17g.31343137T>CCA399015797NF1c.7171+2T>C (n.7171+2T>C)
c.1753+2T>C (n.1753+2T>C)
c.1345+2T>C (n.1345+2T>C)
n.3834+2T>C
c.128+2T>C
c.7219+2T>C (n.7219+2T>C)
c.7189+2T>C (n.7189+2T>C)
c.7126+2T>C (n.7126+2T>C)
c.6124+2T>C (n.6124+2T>C)
c.572+2T>C
c.7325+2T>C (n.7325+2T>C)
c.332+2T>C
n.431+2T>C
c.7180+2T>C (n.7180+2T>C)
c.7156+2T>C (n.7156+2T>C)
c.7216+2T>C (n.7216+2T>C)
 ClinVar
17g.31343137T>GCA399015798NF1c.7171+2T>G (n.7171+2T>G)
c.1753+2T>G (n.1753+2T>G)
c.1345+2T>G (n.1345+2T>G)
n.3834+2T>G
c.128+2T>G
c.7219+2T>G (n.7219+2T>G)
c.7189+2T>G (n.7189+2T>G)
c.7126+2T>G (n.7126+2T>G)
c.6124+2T>G (n.6124+2T>G)
c.572+2T>G
c.7325+2T>G (n.7325+2T>G)
c.332+2T>G
n.431+2T>G
c.7180+2T>G (n.7180+2T>G)
c.7156+2T>G (n.7156+2T>G)
c.7216+2T>G (n.7216+2T>G)
17g.31343137T=CA2255605141NF1c.7171+2T= (n.7171+2T=)
c.1753+2T= (n.1753+2T=)
c.1345+2T= (n.1345+2T=)
n.3834+2T=
c.128+2T=
c.7219+2T= (n.7219+2T=)
c.7189+2T= (n.7189+2T=)
c.7126+2T= (n.7126+2T=)
c.6124+2T= (n.6124+2T=)
c.572+2T=
c.7325+2T= (n.7325+2T=)
c.332+2T=
n.431+2T=
c.7180+2T= (n.7180+2T=)
c.7156+2T= (n.7156+2T=)
c.7216+2T= (n.7216+2T=)
17g.31343137_31343141delCA2697559659NF1c.7171+2_7171+6del (n.7171+2_7171+6del)
c.1753+2_1753+6del (n.1753+2_1753+6del)
c.1345+2_1345+6del (n.1345+2_1345+6del)
n.3834+2_3834+6del
c.128+2_128+6del
c.7219+2_7219+6del (n.7219+2_7219+6del)
c.7189+2_7189+6del (n.7189+2_7189+6del)
c.7126+2_7126+6del (n.7126+2_7126+6del)
c.6124+2_6124+6del (n.6124+2_6124+6del)
c.572+2_572+6del
c.7325+2_7325+6del (n.7325+2_7325+6del)
c.332+2_332+6del
n.431+2_431+6del
c.7180+2_7180+6del (n.7180+2_7180+6del)
c.7156+2_7156+6del (n.7156+2_7156+6del)
c.7216+2_7216+6del (n.7216+2_7216+6del)
 ClinVar
17g.31343138A=CA2255605142NF1c.7171+3A= (n.7171+3A=)
c.1753+3A= (n.1753+3A=)
c.1345+3A= (n.1345+3A=)
n.3834+3A=
c.128+3A=
c.7219+3A= (n.7219+3A=)
c.7189+3A= (n.7189+3A=)
c.7126+3A= (n.7126+3A=)
c.6124+3A= (n.6124+3A=)
c.572+3A=
c.7325+3A= (n.7325+3A=)
c.332+3A=
n.431+3A=
c.7180+3A= (n.7180+3A=)
c.7156+3A= (n.7156+3A=)
c.7216+3A= (n.7216+3A=)
17g.31343138A>CCA212556NF1c.7171+3A>C (n.7171+3A>C)
c.1753+3A>C (n.1753+3A>C)
c.1345+3A>C (n.1345+3A>C)
n.3834+3A>C
c.128+3A>C
c.7219+3A>C (n.7219+3A>C)
c.7189+3A>C (n.7189+3A>C)
c.7126+3A>C (n.7126+3A>C)
c.6124+3A>C (n.6124+3A>C)
c.572+3A>C
c.7325+3A>C (n.7325+3A>C)
c.332+3A>C
n.431+3A>C
c.7180+3A>C (n.7180+3A>C)
c.7156+3A>C (n.7156+3A>C)
c.7216+3A>C (n.7216+3A>C)
 ClinVar dbSNP
17g.31343138A>TCA2695225455NF1c.7171+3A>T (n.7171+3A>T)
c.1753+3A>T (n.1753+3A>T)
c.1345+3A>T (n.1345+3A>T)
n.3834+3A>T
c.128+3A>T
c.7219+3A>T (n.7219+3A>T)
c.7189+3A>T (n.7189+3A>T)
c.7126+3A>T (n.7126+3A>T)
c.6124+3A>T (n.6124+3A>T)
c.572+3A>T
c.7325+3A>T (n.7325+3A>T)
c.332+3A>T
n.431+3A>T
c.7180+3A>T (n.7180+3A>T)
c.7156+3A>T (n.7156+3A>T)
c.7216+3A>T (n.7216+3A>T)
17g.31343143_31343144insAAAAAAACA2809191183NF1c.7171+8_7171+9insAAAAAAA (n.7171+8_7171+9insAAAAAAA)
c.1753+8_1753+9insAAAAAAA (n.1753+8_1753+9insAAAAAAA)
c.1345+8_1345+9insAAAAAAA (n.1345+8_1345+9insAAAAAAA)
n.3834+8_3834+9insAAAAAAA
c.128+8_128+9insAAAAAAA
c.7219+8_7219+9insAAAAAAA (n.7219+8_7219+9insAAAAAAA)
c.7189+8_7189+9insAAAAAAA (n.7189+8_7189+9insAAAAAAA)
c.7126+8_7126+9insAAAAAAA (n.7126+8_7126+9insAAAAAAA)
c.6124+8_6124+9insAAAAAAA (n.6124+8_6124+9insAAAAAAA)
c.572+8_572+9insAAAAAAA
c.7325+8_7325+9insAAAAAAA (n.7325+8_7325+9insAAAAAAA)
c.332+8_332+9insAAAAAAA
n.431+8_431+9insAAAAAAA
c.7180+8_7180+9insAAAAAAA (n.7180+8_7180+9insAAAAAAA)
c.7156+8_7156+9insAAAAAAA (n.7156+8_7156+9insAAAAAAA)
c.7216+8_7216+9insAAAAAAA (n.7216+8_7216+9insAAAAAAA)
17g.31343143_31343144insAAAAAAAACA2809191184NF1c.7171+8_7171+9insAAAAAAAA (n.7171+8_7171+9insAAAAAAAA)
c.1753+8_1753+9insAAAAAAAA (n.1753+8_1753+9insAAAAAAAA)
c.1345+8_1345+9insAAAAAAAA (n.1345+8_1345+9insAAAAAAAA)
n.3834+8_3834+9insAAAAAAAA
c.128+8_128+9insAAAAAAAA
c.7219+8_7219+9insAAAAAAAA (n.7219+8_7219+9insAAAAAAAA)
c.7189+8_7189+9insAAAAAAAA (n.7189+8_7189+9insAAAAAAAA)
c.7126+8_7126+9insAAAAAAAA (n.7126+8_7126+9insAAAAAAAA)
c.6124+8_6124+9insAAAAAAAA (n.6124+8_6124+9insAAAAAAAA)
c.572+8_572+9insAAAAAAAA
c.7325+8_7325+9insAAAAAAAA (n.7325+8_7325+9insAAAAAAAA)
c.332+8_332+9insAAAAAAAA
n.431+8_431+9insAAAAAAAA
c.7180+8_7180+9insAAAAAAAA (n.7180+8_7180+9insAAAAAAAA)
c.7156+8_7156+9insAAAAAAAA (n.7156+8_7156+9insAAAAAAAA)
c.7216+8_7216+9insAAAAAAAA (n.7216+8_7216+9insAAAAAAAA)
17g.31343143dupCA8487507NF1c.7171+8dup (n.7171+8dup)
c.1753+8dup (n.1753+8dup)
c.1345+8dup (n.1345+8dup)
n.3834+8dup
c.128+8dup
c.7219+8dup (n.7219+8dup)
c.7189+8dup (n.7189+8dup)
c.7126+8dup (n.7126+8dup)
c.6124+8dup (n.6124+8dup)
c.572+8dup
c.7325+8dup (n.7325+8dup)
c.332+8dup
n.431+8dup
c.7180+8dup (n.7180+8dup)
c.7156+8dup (n.7156+8dup)
c.7216+8dup (n.7216+8dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31343138_31343143dupCA2809191182NF1c.7171+3_7171+8dup (n.7171+3_7171+8dup)
c.1753+3_1753+8dup (n.1753+3_1753+8dup)
c.1345+3_1345+8dup (n.1345+3_1345+8dup)
n.3834+3_3834+8dup
c.128+3_128+8dup
c.7219+3_7219+8dup (n.7219+3_7219+8dup)
c.7189+3_7189+8dup (n.7189+3_7189+8dup)
c.7126+3_7126+8dup (n.7126+3_7126+8dup)
c.6124+3_6124+8dup (n.6124+3_6124+8dup)
c.572+3_572+8dup
c.7325+3_7325+8dup (n.7325+3_7325+8dup)
c.332+3_332+8dup
n.431+3_431+8dup
c.7180+3_7180+8dup (n.7180+3_7180+8dup)
c.7156+3_7156+8dup (n.7156+3_7156+8dup)
c.7216+3_7216+8dup (n.7216+3_7216+8dup)
17g.31343143delCA645572258NF1c.7171+8del (n.7171+8del)
c.1753+8del (n.1753+8del)
c.1345+8del (n.1345+8del)
n.3834+8del
c.128+8del
c.7219+8del (n.7219+8del)
c.7189+8del (n.7189+8del)
c.7126+8del (n.7126+8del)
c.6124+8del (n.6124+8del)
c.572+8del
c.7325+8del (n.7325+8del)
c.332+8del
n.431+8del
c.7180+8del (n.7180+8del)
c.7156+8del (n.7156+8del)
c.7216+8del (n.7216+8del)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
17g.31343138_31343146delCA2695225454NF1c.7171+3_7171+11del (n.7171+3_7171+11del)
c.1753+3_1753+11del (n.1753+3_1753+11del)
c.1345+3_1345+11del (n.1345+3_1345+11del)
n.3834+3_3834+11del
c.128+3_128+11del
c.7219+3_7219+11del (n.7219+3_7219+11del)
c.7189+3_7189+11del (n.7189+3_7189+11del)
c.7126+3_7126+11del (n.7126+3_7126+11del)
c.6124+3_6124+11del (n.6124+3_6124+11del)
c.572+3_572+11del
c.7325+3_7325+11del (n.7325+3_7325+11del)
c.332+3_332+11del
n.431+3_431+11del
c.7180+3_7180+11del (n.7180+3_7180+11del)
c.7156+3_7156+11del (n.7156+3_7156+11del)
c.7216+3_7216+11del (n.7216+3_7216+11del)
17g.31343139A=CA2255605143NF1c.7171+4A= (n.7171+4A=)
c.1753+4A= (n.1753+4A=)
c.1345+4A= (n.1345+4A=)
n.3834+4A=
c.128+4A=
c.7219+4A= (n.7219+4A=)
c.7189+4A= (n.7189+4A=)
c.7126+4A= (n.7126+4A=)
c.6124+4A= (n.6124+4A=)
c.572+4A=
c.7325+4A= (n.7325+4A=)
c.332+4A=
n.431+4A=
c.7180+4A= (n.7180+4A=)
c.7156+4A= (n.7156+4A=)
c.7216+4A= (n.7216+4A=)
17g.31343139A>CCA8487508NF1c.7171+4A>C (n.7171+4A>C)
c.1753+4A>C (n.1753+4A>C)
c.1345+4A>C (n.1345+4A>C)
n.3834+4A>C
c.128+4A>C
c.7219+4A>C (n.7219+4A>C)
c.7189+4A>C (n.7189+4A>C)
c.7126+4A>C (n.7126+4A>C)
c.6124+4A>C (n.6124+4A>C)
c.572+4A>C
c.7325+4A>C (n.7325+4A>C)
c.332+4A>C
n.431+4A>C
c.7180+4A>C (n.7180+4A>C)
c.7156+4A>C (n.7156+4A>C)
c.7216+4A>C (n.7216+4A>C)
 ClinVar dbSNP ExAC gnomAD v4
17g.31343141A>CCA2739265563NF1c.7171+6A>C (n.7171+6A>C)
c.1753+6A>C (n.1753+6A>C)
c.1345+6A>C (n.1345+6A>C)
n.3834+6A>C
c.128+6A>C
c.7219+6A>C (n.7219+6A>C)
c.7189+6A>C (n.7189+6A>C)
c.7126+6A>C (n.7126+6A>C)
c.6124+6A>C (n.6124+6A>C)
c.572+6A>C
c.7325+6A>C (n.7325+6A>C)
c.332+6A>C
n.431+6A>C
c.7180+6A>C (n.7180+6A>C)
c.7156+6A>C (n.7156+6A>C)
c.7216+6A>C (n.7216+6A>C)
 ClinVar
17g.31343142A=CA2255605144NF1c.7171+7A= (n.7171+7A=)
c.1753+7A= (n.1753+7A=)
c.1345+7A= (n.1345+7A=)
n.3834+7A=
c.128+7A=
c.7219+7A= (n.7219+7A=)
c.7189+7A= (n.7189+7A=)
c.7126+7A= (n.7126+7A=)
c.6124+7A= (n.6124+7A=)
c.572+7A=
c.7325+7A= (n.7325+7A=)
c.332+7A=
n.431+7A=
c.7180+7A= (n.7180+7A=)
c.7156+7A= (n.7156+7A=)
c.7216+7A= (n.7216+7A=)
17g.31343142A>CCA2573153814NF1c.7171+7A>C (n.7171+7A>C)
c.1753+7A>C (n.1753+7A>C)
c.1345+7A>C (n.1345+7A>C)
n.3834+7A>C
c.128+7A>C
c.7219+7A>C (n.7219+7A>C)
c.7189+7A>C (n.7189+7A>C)
c.7126+7A>C (n.7126+7A>C)
c.6124+7A>C (n.6124+7A>C)
c.572+7A>C
c.7325+7A>C (n.7325+7A>C)
c.332+7A>C
n.431+7A>C
c.7180+7A>C (n.7180+7A>C)
c.7156+7A>C (n.7156+7A>C)
c.7216+7A>C (n.7216+7A>C)
 ClinVar dbSNP
17g.31343142A>GCA8487509NF1c.7171+7A>G (n.7171+7A>G)
c.1753+7A>G (n.1753+7A>G)
c.1345+7A>G (n.1345+7A>G)
n.3834+7A>G
c.128+7A>G
c.7219+7A>G (n.7219+7A>G)
c.7189+7A>G (n.7189+7A>G)
c.7126+7A>G (n.7126+7A>G)
c.6124+7A>G (n.6124+7A>G)
c.572+7A>G
c.7325+7A>G (n.7325+7A>G)
c.332+7A>G
n.431+7A>G
c.7180+7A>G (n.7180+7A>G)
c.7156+7A>G (n.7156+7A>G)
c.7216+7A>G (n.7216+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31343142A>TCA2733211563NF1c.7171+7A>T (n.7171+7A>T)
c.1753+7A>T (n.1753+7A>T)
c.1345+7A>T (n.1345+7A>T)
n.3834+7A>T
c.128+7A>T
c.7219+7A>T (n.7219+7A>T)
c.7189+7A>T (n.7189+7A>T)
c.7126+7A>T (n.7126+7A>T)
c.6124+7A>T (n.6124+7A>T)
c.572+7A>T
c.7325+7A>T (n.7325+7A>T)
c.332+7A>T
n.431+7A>T
c.7180+7A>T (n.7180+7A>T)
c.7156+7A>T (n.7156+7A>T)
c.7216+7A>T (n.7216+7A>T)
 dbSNP
17g.31343143A=CA2255605145NF1c.7171+8A= (n.7171+8A=)
c.1753+8A= (n.1753+8A=)
c.1345+8A= (n.1345+8A=)
n.3834+8A=
c.128+8A=
c.7219+8A= (n.7219+8A=)
c.7189+8A= (n.7189+8A=)
c.7126+8A= (n.7126+8A=)
c.6124+8A= (n.6124+8A=)
c.572+8A=
c.7325+8A= (n.7325+8A=)
c.332+8A=
n.431+8A=
c.7180+8A= (n.7180+8A=)
c.7156+8A= (n.7156+8A=)
c.7216+8A= (n.7216+8A=)
17g.31343143A>GCA8487510NF1c.7171+8A>G (n.7171+8A>G)
c.1753+8A>G (n.1753+8A>G)
c.1345+8A>G (n.1345+8A>G)
n.3834+8A>G
c.128+8A>G
c.7219+8A>G (n.7219+8A>G)
c.7189+8A>G (n.7189+8A>G)
c.7126+8A>G (n.7126+8A>G)
c.6124+8A>G (n.6124+8A>G)
c.572+8A>G
c.7325+8A>G (n.7325+8A>G)
c.332+8A>G
n.431+8A>G
c.7180+8A>G (n.7180+8A>G)
c.7156+8A>G (n.7156+8A>G)
c.7216+8A>G (n.7216+8A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343144G>ACA915949812NF1c.7171+9G>A (n.7171+9G>A)
c.1753+9G>A (n.1753+9G>A)
c.1345+9G>A (n.1345+9G>A)
n.3834+9G>A
c.128+9G>A
c.7219+9G>A (n.7219+9G>A)
c.7189+9G>A (n.7189+9G>A)
c.7126+9G>A (n.7126+9G>A)
c.6124+9G>A (n.6124+9G>A)
c.572+9G>A
c.7325+9G>A (n.7325+9G>A)
c.332+9G>A
n.431+9G>A
c.7180+9G>A (n.7180+9G>A)
c.7156+9G>A (n.7156+9G>A)
c.7216+9G>A (n.7216+9G>A)
 ClinVar dbSNP
17g.31343144G>CCA2733271276NF1c.7171+9G>C (n.7171+9G>C)
c.1753+9G>C (n.1753+9G>C)
c.1345+9G>C (n.1345+9G>C)
n.3834+9G>C
c.128+9G>C
c.7219+9G>C (n.7219+9G>C)
c.7189+9G>C (n.7189+9G>C)
c.7126+9G>C (n.7126+9G>C)
c.6124+9G>C (n.6124+9G>C)
c.572+9G>C
c.7325+9G>C (n.7325+9G>C)
c.332+9G>C
n.431+9G>C
c.7180+9G>C (n.7180+9G>C)
c.7156+9G>C (n.7156+9G>C)
c.7216+9G>C (n.7216+9G>C)
 dbSNP
17g.31343144G=CA2255605146NF1c.7171+9G= (n.7171+9G=)
c.1753+9G= (n.1753+9G=)
c.1345+9G= (n.1345+9G=)
n.3834+9G=
c.128+9G=
c.7219+9G= (n.7219+9G=)
c.7189+9G= (n.7189+9G=)
c.7126+9G= (n.7126+9G=)
c.6124+9G= (n.6124+9G=)
c.572+9G=
c.7325+9G= (n.7325+9G=)
c.332+9G=
n.431+9G=
c.7180+9G= (n.7180+9G=)
c.7156+9G= (n.7156+9G=)
c.7216+9G= (n.7216+9G=)
17g.31343145C>ACA2580093285NF1c.7171+10C>A (n.7171+10C>A)
c.1753+10C>A (n.1753+10C>A)
c.1345+10C>A (n.1345+10C>A)
n.3834+10C>A
c.128+10C>A
c.7219+10C>A (n.7219+10C>A)
c.7189+10C>A (n.7189+10C>A)
c.7126+10C>A (n.7126+10C>A)
c.6124+10C>A (n.6124+10C>A)
c.572+10C>A
c.7325+10C>A (n.7325+10C>A)
c.332+10C>A
n.431+10C>A
c.7180+10C>A (n.7180+10C>A)
c.7156+10C>A (n.7156+10C>A)
c.7216+10C>A (n.7216+10C>A)
 ClinVar dbSNP
17g.31343145C>GCA2499224217NF1c.7171+10C>G (n.7171+10C>G)
c.1753+10C>G (n.1753+10C>G)
c.1345+10C>G (n.1345+10C>G)
n.3834+10C>G
c.128+10C>G
c.7219+10C>G (n.7219+10C>G)
c.7189+10C>G (n.7189+10C>G)
c.7126+10C>G (n.7126+10C>G)
c.6124+10C>G (n.6124+10C>G)
c.572+10C>G
c.7325+10C>G (n.7325+10C>G)
c.332+10C>G
n.431+10C>G
c.7180+10C>G (n.7180+10C>G)
c.7156+10C>G (n.7156+10C>G)
c.7216+10C>G (n.7216+10C>G)
 ClinVar dbSNP
17g.31343145C>TCA2733595895NF1c.7171+10C>T (n.7171+10C>T)
c.1753+10C>T (n.1753+10C>T)
c.1345+10C>T (n.1345+10C>T)
n.3834+10C>T
c.128+10C>T
c.7219+10C>T (n.7219+10C>T)
c.7189+10C>T (n.7189+10C>T)
c.7126+10C>T (n.7126+10C>T)
c.6124+10C>T (n.6124+10C>T)
c.572+10C>T
c.7325+10C>T (n.7325+10C>T)
c.332+10C>T
n.431+10C>T
c.7180+10C>T (n.7180+10C>T)
c.7156+10C>T (n.7156+10C>T)
c.7216+10C>T (n.7216+10C>T)
 dbSNP
17g.31343146C>ACA2733595968NF1c.7171+11C>A (n.7171+11C>A)
c.1753+11C>A (n.1753+11C>A)
c.1345+11C>A (n.1345+11C>A)
n.3834+11C>A
c.128+11C>A
c.7219+11C>A (n.7219+11C>A)
c.7189+11C>A (n.7189+11C>A)
c.7126+11C>A (n.7126+11C>A)
c.6124+11C>A (n.6124+11C>A)
c.572+11C>A
c.7325+11C>A (n.7325+11C>A)
c.332+11C>A
n.431+11C>A
c.7180+11C>A (n.7180+11C>A)
c.7156+11C>A (n.7156+11C>A)
c.7216+11C>A (n.7216+11C>A)
 dbSNP
17g.31343146C>GCA2733595990NF1c.7171+11C>G (n.7171+11C>G)
c.1753+11C>G (n.1753+11C>G)
c.1345+11C>G (n.1345+11C>G)
n.3834+11C>G
c.128+11C>G
c.7219+11C>G (n.7219+11C>G)
c.7189+11C>G (n.7189+11C>G)
c.7126+11C>G (n.7126+11C>G)
c.6124+11C>G (n.6124+11C>G)
c.572+11C>G
c.7325+11C>G (n.7325+11C>G)
c.332+11C>G
n.431+11C>G
c.7180+11C>G (n.7180+11C>G)
c.7156+11C>G (n.7156+11C>G)
c.7216+11C>G (n.7216+11C>G)
 dbSNP
17g.31343146C>TCA2637081206NF1c.7171+11C>T (n.7171+11C>T)
c.1753+11C>T (n.1753+11C>T)
c.1345+11C>T (n.1345+11C>T)
n.3834+11C>T
c.128+11C>T
c.7219+11C>T (n.7219+11C>T)
c.7189+11C>T (n.7189+11C>T)
c.7126+11C>T (n.7126+11C>T)
c.6124+11C>T (n.6124+11C>T)
c.572+11C>T
c.7325+11C>T (n.7325+11C>T)
c.332+11C>T
n.431+11C>T
c.7180+11C>T (n.7180+11C>T)
c.7156+11C>T (n.7156+11C>T)
c.7216+11C>T (n.7216+11C>T)
 ClinVar dbSNP gnomAD v4
17g.31343147T>ACA2733595997NF1c.7171+12T>A (n.7171+12T>A)
c.1753+12T>A (n.1753+12T>A)
c.1345+12T>A (n.1345+12T>A)
n.3834+12T>A
c.128+12T>A
c.7219+12T>A (n.7219+12T>A)
c.7189+12T>A (n.7189+12T>A)
c.7126+12T>A (n.7126+12T>A)
c.6124+12T>A (n.6124+12T>A)
c.572+12T>A
c.7325+12T>A (n.7325+12T>A)
c.332+12T>A
n.431+12T>A
c.7180+12T>A (n.7180+12T>A)
c.7156+12T>A (n.7156+12T>A)
c.7216+12T>A (n.7216+12T>A)
 dbSNP
17g.31343147T>CCA2733596077NF1c.7171+12T>C (n.7171+12T>C)
c.1753+12T>C (n.1753+12T>C)
c.1345+12T>C (n.1345+12T>C)
n.3834+12T>C
c.128+12T>C
c.7219+12T>C (n.7219+12T>C)
c.7189+12T>C (n.7189+12T>C)
c.7126+12T>C (n.7126+12T>C)
c.6124+12T>C (n.6124+12T>C)
c.572+12T>C
c.7325+12T>C (n.7325+12T>C)
c.332+12T>C
n.431+12T>C
c.7180+12T>C (n.7180+12T>C)
c.7156+12T>C (n.7156+12T>C)
c.7216+12T>C (n.7216+12T>C)
 dbSNP
17g.31343148delCA2637081208NF1c.7171+13del (n.7171+13del)
c.1753+13del (n.1753+13del)
c.1345+13del (n.1345+13del)
n.3834+13del
c.128+13del
c.7219+13del (n.7219+13del)
c.7189+13del (n.7189+13del)
c.7126+13del (n.7126+13del)
c.6124+13del (n.6124+13del)
c.572+13del
c.7325+13del (n.7325+13del)
c.332+13del
n.431+13del
c.7180+13del (n.7180+13del)
c.7156+13del (n.7156+13del)
c.7216+13del (n.7216+13del)
 gnomAD v4
17g.31343148T>ACA2733596093NF1c.7171+13T>A (n.7171+13T>A)
c.1753+13T>A (n.1753+13T>A)
c.1345+13T>A (n.1345+13T>A)
n.3834+13T>A
c.128+13T>A
c.7219+13T>A (n.7219+13T>A)
c.7189+13T>A (n.7189+13T>A)
c.7126+13T>A (n.7126+13T>A)
c.6124+13T>A (n.6124+13T>A)
c.572+13T>A
c.7325+13T>A (n.7325+13T>A)
c.332+13T>A
n.431+13T>A
c.7180+13T>A (n.7180+13T>A)
c.7156+13T>A (n.7156+13T>A)
c.7216+13T>A (n.7216+13T>A)
 dbSNP
17g.31343148T>CCA2637081210NF1c.7171+13T>C (n.7171+13T>C)
c.1753+13T>C (n.1753+13T>C)
c.1345+13T>C (n.1345+13T>C)
n.3834+13T>C
c.128+13T>C
c.7219+13T>C (n.7219+13T>C)
c.7189+13T>C (n.7189+13T>C)
c.7126+13T>C (n.7126+13T>C)
c.6124+13T>C (n.6124+13T>C)
c.572+13T>C
c.7325+13T>C (n.7325+13T>C)
c.332+13T>C
n.431+13T>C
c.7180+13T>C (n.7180+13T>C)
c.7156+13T>C (n.7156+13T>C)
c.7216+13T>C (n.7216+13T>C)
 gnomAD v4
17g.31343150T>CCA728030460NF1c.7171+15T>C (n.7171+15T>C)
c.1753+15T>C (n.1753+15T>C)
c.1345+15T>C (n.1345+15T>C)
n.3834+15T>C
c.128+15T>C
c.7219+15T>C (n.7219+15T>C)
c.7189+15T>C (n.7189+15T>C)
c.7126+15T>C (n.7126+15T>C)
c.6124+15T>C (n.6124+15T>C)
c.572+15T>C
c.7325+15T>C (n.7325+15T>C)
c.332+15T>C
n.431+15T>C
c.7180+15T>C (n.7180+15T>C)
c.7156+15T>C (n.7156+15T>C)
c.7216+15T>C (n.7216+15T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31343150T=CA2255605147NF1c.7171+15T= (n.7171+15T=)
c.1753+15T= (n.1753+15T=)
c.1345+15T= (n.1345+15T=)
n.3834+15T=
c.128+15T=
c.7219+15T= (n.7219+15T=)
c.7189+15T= (n.7189+15T=)
c.7126+15T= (n.7126+15T=)
c.6124+15T= (n.6124+15T=)
c.572+15T=
c.7325+15T= (n.7325+15T=)
c.332+15T=
n.431+15T=
c.7180+15T= (n.7180+15T=)
c.7156+15T= (n.7156+15T=)
c.7216+15T= (n.7216+15T=)
17g.31343152delCA2637081211NF1c.7171+17del (n.7171+17del)
c.1753+17del (n.1753+17del)
c.1345+17del (n.1345+17del)
n.3834+17del
c.128+17del
c.7219+17del (n.7219+17del)
c.7189+17del (n.7189+17del)
c.7126+17del (n.7126+17del)
c.6124+17del (n.6124+17del)
c.572+17del
c.7325+17del (n.7325+17del)
c.332+17del
n.431+17del
c.7180+17del (n.7180+17del)
c.7156+17del (n.7156+17del)
c.7216+17del (n.7216+17del)
 dbSNP gnomAD v4
17g.31343151T>GCA289396343NF1c.7171+16T>G (n.7171+16T>G)
c.1753+16T>G (n.1753+16T>G)
c.1345+16T>G (n.1345+16T>G)
n.3834+16T>G
c.128+16T>G
c.7219+16T>G (n.7219+16T>G)
c.7189+16T>G (n.7189+16T>G)
c.7126+16T>G (n.7126+16T>G)
c.6124+16T>G (n.6124+16T>G)
c.572+16T>G
c.7325+16T>G (n.7325+16T>G)
c.332+16T>G
n.431+16T>G
c.7180+16T>G (n.7180+16T>G)
c.7156+16T>G (n.7156+16T>G)
c.7216+16T>G (n.7216+16T>G)
 ClinVar dbSNP
17g.31343151T=CA2255605148NF1c.7171+16T= (n.7171+16T=)
c.1753+16T= (n.1753+16T=)
c.1345+16T= (n.1345+16T=)
n.3834+16T=
c.128+16T=
c.7219+16T= (n.7219+16T=)
c.7189+16T= (n.7189+16T=)
c.7126+16T= (n.7126+16T=)
c.6124+16T= (n.6124+16T=)
c.572+16T=
c.7325+16T= (n.7325+16T=)
c.332+16T=
n.431+16T=
c.7180+16T= (n.7180+16T=)
c.7156+16T= (n.7156+16T=)
c.7216+16T= (n.7216+16T=)
17g.31343154G>ACA2733596118NF1c.7171+19G>A (n.7171+19G>A)
c.1753+19G>A (n.1753+19G>A)
c.1345+19G>A (n.1345+19G>A)
n.3834+19G>A
c.128+19G>A
c.7219+19G>A (n.7219+19G>A)
c.7189+19G>A (n.7189+19G>A)
c.7126+19G>A (n.7126+19G>A)
c.6124+19G>A (n.6124+19G>A)
c.572+19G>A
c.7325+19G>A (n.7325+19G>A)
c.332+19G>A
n.431+19G>A
c.7180+19G>A (n.7180+19G>A)
c.7156+19G>A (n.7156+19G>A)
c.7216+19G>A (n.7216+19G>A)
 dbSNP
17g.31343154G>CCA2733596124NF1c.7171+19G>C (n.7171+19G>C)
c.1753+19G>C (n.1753+19G>C)
c.1345+19G>C (n.1345+19G>C)
n.3834+19G>C
c.128+19G>C
c.7219+19G>C (n.7219+19G>C)
c.7189+19G>C (n.7189+19G>C)
c.7126+19G>C (n.7126+19G>C)
c.6124+19G>C (n.6124+19G>C)
c.572+19G>C
c.7325+19G>C (n.7325+19G>C)
c.332+19G>C
n.431+19G>C
c.7180+19G>C (n.7180+19G>C)
c.7156+19G>C (n.7156+19G>C)
c.7216+19G>C (n.7216+19G>C)
 dbSNP
17g.31343155A=CA2255605149NF1c.7171+20A= (n.7171+20A=)
c.1753+20A= (n.1753+20A=)
c.1345+20A= (n.1345+20A=)
n.3834+20A=
c.128+20A=
c.7219+20A= (n.7219+20A=)
c.7189+20A= (n.7189+20A=)
c.7126+20A= (n.7126+20A=)
c.6124+20A= (n.6124+20A=)
c.572+20A=
c.7325+20A= (n.7325+20A=)
c.332+20A=
n.431+20A=
c.7180+20A= (n.7180+20A=)
c.7156+20A= (n.7156+20A=)
c.7216+20A= (n.7216+20A=)
17g.31343155A>CCA625472910NF1c.7171+20A>C (n.7171+20A>C)
c.1753+20A>C (n.1753+20A>C)
c.1345+20A>C (n.1345+20A>C)
n.3834+20A>C
c.128+20A>C
c.7219+20A>C (n.7219+20A>C)
c.7189+20A>C (n.7189+20A>C)
c.7126+20A>C (n.7126+20A>C)
c.6124+20A>C (n.6124+20A>C)
c.572+20A>C
c.7325+20A>C (n.7325+20A>C)
c.332+20A>C
n.431+20A>C
c.7180+20A>C (n.7180+20A>C)
c.7156+20A>C (n.7156+20A>C)
c.7216+20A>C (n.7216+20A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31343155A>GCA2733245463NF1c.7171+20A>G (n.7171+20A>G)
c.1753+20A>G (n.1753+20A>G)
c.1345+20A>G (n.1345+20A>G)
n.3834+20A>G
c.128+20A>G
c.7219+20A>G (n.7219+20A>G)
c.7189+20A>G (n.7189+20A>G)
c.7126+20A>G (n.7126+20A>G)
c.6124+20A>G (n.6124+20A>G)
c.572+20A>G
c.7325+20A>G (n.7325+20A>G)
c.332+20A>G
n.431+20A>G
c.7180+20A>G (n.7180+20A>G)
c.7156+20A>G (n.7156+20A>G)
c.7216+20A>G (n.7216+20A>G)
 dbSNP
17g.31343156A=CA2255605150NF1c.7171+21A= (n.7171+21A=)
c.1753+21A= (n.1753+21A=)
c.1345+21A= (n.1345+21A=)
n.3834+21A=
c.128+21A=
c.7219+21A= (n.7219+21A=)
c.7189+21A= (n.7189+21A=)
c.7126+21A= (n.7126+21A=)
c.6124+21A= (n.6124+21A=)
c.572+21A=
c.7325+21A= (n.7325+21A=)
c.332+21A=
n.431+21A=
c.7180+21A= (n.7180+21A=)
c.7156+21A= (n.7156+21A=)
c.7216+21A= (n.7216+21A=)
17g.31343156A>GCA2637081217NF1c.7171+21A>G (n.7171+21A>G)
c.1753+21A>G (n.1753+21A>G)
c.1345+21A>G (n.1345+21A>G)
n.3834+21A>G
c.128+21A>G
c.7219+21A>G (n.7219+21A>G)
c.7189+21A>G (n.7189+21A>G)
c.7126+21A>G (n.7126+21A>G)
c.6124+21A>G (n.6124+21A>G)
c.572+21A>G
c.7325+21A>G (n.7325+21A>G)
c.332+21A>G
n.431+21A>G
c.7180+21A>G (n.7180+21A>G)
c.7156+21A>G (n.7156+21A>G)
c.7216+21A>G (n.7216+21A>G)
 gnomAD v4
17g.31343156A>TCA2576223922NF1c.7171+21A>T (n.7171+21A>T)
c.1753+21A>T (n.1753+21A>T)
c.1345+21A>T (n.1345+21A>T)
n.3834+21A>T
c.128+21A>T
c.7219+21A>T (n.7219+21A>T)
c.7189+21A>T (n.7189+21A>T)
c.7126+21A>T (n.7126+21A>T)
c.6124+21A>T (n.6124+21A>T)
c.572+21A>T
c.7325+21A>T (n.7325+21A>T)
c.332+21A>T
n.431+21A>T
c.7180+21A>T (n.7180+21A>T)
c.7156+21A>T (n.7156+21A>T)
c.7216+21A>T (n.7216+21A>T)
 gnomAD v4
17g.31343157T>ACA728030471NF1c.7171+22T>A (n.7171+22T>A)
c.1753+22T>A (n.1753+22T>A)
c.1345+22T>A (n.1345+22T>A)
n.3834+22T>A
c.128+22T>A
c.7219+22T>A (n.7219+22T>A)
c.7189+22T>A (n.7189+22T>A)
c.7126+22T>A (n.7126+22T>A)
c.6124+22T>A (n.6124+22T>A)
c.572+22T>A
c.7325+22T>A (n.7325+22T>A)
c.332+22T>A
n.431+22T>A
c.7180+22T>A (n.7180+22T>A)
c.7156+22T>A (n.7156+22T>A)
c.7216+22T>A (n.7216+22T>A)
 dbSNP gnomAD v4
17g.31343157T>CCA728030469NF1c.7171+22T>C (n.7171+22T>C)
c.1753+22T>C (n.1753+22T>C)
c.1345+22T>C (n.1345+22T>C)
n.3834+22T>C
c.128+22T>C
c.7219+22T>C (n.7219+22T>C)
c.7189+22T>C (n.7189+22T>C)
c.7126+22T>C (n.7126+22T>C)
c.6124+22T>C (n.6124+22T>C)
c.572+22T>C
c.7325+22T>C (n.7325+22T>C)
c.332+22T>C
n.431+22T>C
c.7180+22T>C (n.7180+22T>C)
c.7156+22T>C (n.7156+22T>C)
c.7216+22T>C (n.7216+22T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.31343157T=CA2255605151NF1c.7171+22T= (n.7171+22T=)
c.1753+22T= (n.1753+22T=)
c.1345+22T= (n.1345+22T=)
n.3834+22T=
c.128+22T=
c.7219+22T= (n.7219+22T=)
c.7189+22T= (n.7189+22T=)
c.7126+22T= (n.7126+22T=)
c.6124+22T= (n.6124+22T=)
c.572+22T=
c.7325+22T= (n.7325+22T=)
c.332+22T=
n.431+22T=
c.7180+22T= (n.7180+22T=)
c.7156+22T= (n.7156+22T=)
c.7216+22T= (n.7216+22T=)
17g.31343158_31343161dupCA8487511NF1c.7171+23_7171+26dup (n.7171+23_7171+26dup)
c.1753+23_1753+26dup (n.1753+23_1753+26dup)
c.1345+23_1345+26dup (n.1345+23_1345+26dup)
n.3834+23_3834+26dup
c.128+23_128+26dup
c.7219+23_7219+26dup (n.7219+23_7219+26dup)
c.7189+23_7189+26dup (n.7189+23_7189+26dup)
c.7126+23_7126+26dup (n.7126+23_7126+26dup)
c.6124+23_6124+26dup (n.6124+23_6124+26dup)
c.572+23_572+26dup
c.7325+23_7325+26dup (n.7325+23_7325+26dup)
c.332+23_332+26dup
n.431+23_431+26dup
c.7180+23_7180+26dup (n.7180+23_7180+26dup)
c.7156+23_7156+26dup (n.7156+23_7156+26dup)
c.7216+23_7216+26dup (n.7216+23_7216+26dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31343158delCA2576223924NF1c.7171+23del (n.7171+23del)
c.1753+23del (n.1753+23del)
c.1345+23del (n.1345+23del)
n.3834+23del
c.128+23del
c.7219+23del (n.7219+23del)
c.7189+23del (n.7189+23del)
c.7126+23del (n.7126+23del)
c.6124+23del (n.6124+23del)
c.572+23del
c.7325+23del (n.7325+23del)
c.332+23del
n.431+23del
c.7180+23del (n.7180+23del)
c.7156+23del (n.7156+23del)
c.7216+23del (n.7216+23del)
 gnomAD v4
17g.31343158A>GCA2637081221NF1c.7171+23A>G (n.7171+23A>G)
c.1753+23A>G (n.1753+23A>G)
c.1345+23A>G (n.1345+23A>G)
n.3834+23A>G
c.128+23A>G
c.7219+23A>G (n.7219+23A>G)
c.7189+23A>G (n.7189+23A>G)
c.7126+23A>G (n.7126+23A>G)
c.6124+23A>G (n.6124+23A>G)
c.572+23A>G
c.7325+23A>G (n.7325+23A>G)
c.332+23A>G
n.431+23A>G
c.7180+23A>G (n.7180+23A>G)
c.7156+23A>G (n.7156+23A>G)
c.7216+23A>G (n.7216+23A>G)
 gnomAD v4

Number of alleles fetched