Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31233073_31233152delCA645578920NF1c.3613_3692del (p.Gly1205Ter)
c.913_992del (p.Gly305Ter)
c.3598_3677del (p.Gly1200Ter)
n.294_373del
c.3568_3647del (p.Gly1190Ter)
c.2566_2645del (p.Gly856Ter)
c.44_123del
n.2104_2183del
c.3343_3422del
c.3670_3749del (p.Gly1224Ter)
c.3559_3638del (p.Gly1187Ter)
c.3595_3674del (p.Gly1199Ter)
 COSMIC
17g.31233143_31233144delCA658761068NF1c.3683_3684del (p.Thr1228AsnfsTer4)
c.983_984del (p.Thr328AsnfsTer4)
c.3668_3669del (p.Thr1223AsnfsTer4)
n.364_365del
c.3638_3639del (p.Thr1213AsnfsTer4)
c.2636_2637del (p.Thr879AsnfsTer4)
c.114_115del
n.2174_2175del
c.3413_3414del
c.3740_3741del (p.Thr1247AsnfsTer4)
c.3629_3630del (p.Thr1210AsnfsTer4)
c.3665_3666del (p.Thr1222AsnfsTer4)
17g.31233143_31233146delinsCAATCA2255570658NF1c.3683_3686delinsCAAT (p.Thr1228=)
c.983_986delinsCAAT (p.Thr328=)
c.3668_3671delinsCAAT (p.Thr1223=)
n.364_367delinsCAAT
c.3638_3641delinsCAAT (p.Thr1213=)
c.2636_2639delinsCAAT (p.Thr879=)
c.114_117delinsCAAT
n.2174_2177delinsCAAT
c.3413_3416delinsCAAT
c.3740_3743delinsCAAT (p.Thr1247=)
c.3629_3632delinsCAAT (p.Thr1210=)
c.3665_3668delinsCAAT (p.Thr1222=)
17g.31233143_31233205delinsACA645578921NF1c.3683_3745delinsA (p.Thr1228AsnfsTer5)
c.983_1045delinsA (p.Thr328AsnfsTer5)
c.3668_3730delinsA (p.Thr1223AsnfsTer5)
n.364_426delinsA
c.3638_3700delinsA (p.Thr1213AsnfsTer5)
c.2636_2698delinsA (p.Thr879AsnfsTer5)
c.114_176delinsA
n.2174_2236delinsA
c.3413_3475delinsA
c.3740_3802delinsA (p.Thr1247AsnfsTer5)
c.3629_3691delinsA (p.Thr1210AsnfsTer5)
c.3665_3727delinsA (p.Thr1222AsnfsTer5)
 COSMIC
17g.31233144A=CA2255570661NF1c.3684A= (p.Thr1228=)
c.984A= (p.Thr328=)
c.3669A= (p.Thr1223=)
n.365A=
c.3639A= (p.Thr1213=)
c.2637A= (p.Thr879=)
c.115A=
n.2175A=
c.3414A=
c.3741A= (p.Thr1247=)
c.3630A= (p.Thr1210=)
c.3666A= (p.Thr1222=)
17g.31233144A>CCA499443802NF1c.3684A>C (p.Thr1228=)
c.984A>C (p.Thr328=)
c.3669A>C (p.Thr1223=)
n.365A>C
c.3639A>C (p.Thr1213=)
c.2637A>C (p.Thr879=)
c.115A>C
n.2175A>C
c.3414A>C
c.3741A>C (p.Thr1247=)
c.3630A>C (p.Thr1210=)
c.3666A>C (p.Thr1222=)
17g.31233144A>GCA499443803NF1c.3684A>G (p.Thr1228=)
c.984A>G (p.Thr328=)
c.3669A>G (p.Thr1223=)
n.365A>G
c.3639A>G (p.Thr1213=)
c.2637A>G (p.Thr879=)
c.115A>G
n.2175A>G
c.3414A>G
c.3741A>G (p.Thr1247=)
c.3630A>G (p.Thr1210=)
c.3666A>G (p.Thr1222=)
 ClinVar dbSNP
17g.31233144A>TCA499443804NF1c.3684A>T (p.Thr1228=)
c.984A>T (p.Thr328=)
c.3669A>T (p.Thr1223=)
n.365A>T
c.3639A>T (p.Thr1213=)
c.2637A>T (p.Thr879=)
c.115A>T
n.2175A>T
c.3414A>T
c.3741A>T (p.Thr1247=)
c.3630A>T (p.Thr1210=)
c.3666A>T (p.Thr1222=)
 dbSNP
17g.31233144_31233145delCA2499224108NF1c.3684_3685del (p.Met1229AspfsTer3)
c.984_985del (p.Met329AspfsTer3)
c.3669_3670del (p.Met1224AspfsTer3)
n.365_366del
c.3639_3640del (p.Met1214AspfsTer3)
c.2637_2638del (p.Met880AspfsTer3)
c.115_116del
n.2175_2176del
c.3414_3415del
c.3741_3742del (p.Met1248AspfsTer3)
c.3630_3631del (p.Met1211AspfsTer3)
c.3666_3667del (p.Met1223AspfsTer3)
 ClinVar dbSNP
17g.31233145delCA2573153360NF1c.3685del (p.Met1229Ter)
c.985del (p.Met329Ter)
c.3670del (p.Met1224Ter)
n.366del
c.3640del (p.Met1214Ter)
c.2638del (p.Met880Ter)
c.116del
n.2176del
c.3415del
c.3742del (p.Met1248Ter)
c.3631del (p.Met1211Ter)
c.3667del (p.Met1223Ter)
 ClinVar dbSNP
17g.31233144_31233146delCA16615228NF1c.3684_3686del (p.Met1229del)
c.984_986del (p.Met329del)
c.3669_3671del (p.Met1224del)
n.365_367del
c.3639_3641del (p.Met1214del)
c.2637_2639del (p.Met880del)
c.115_117del
n.2175_2177del
c.3414_3416del
c.3741_3743del (p.Met1248del)
c.3630_3632del (p.Met1211del)
c.3666_3668del (p.Met1223del)
 ClinVar dbSNP
17g.31233145A>CCA398990408NF1c.3685A>C (p.Met1229Leu)
c.985A>C (p.Met329Leu)
c.3670A>C (p.Met1224Leu)
n.366A>C
c.3640A>C (p.Met1214Leu)
c.2638A>C (p.Met880Leu)
c.116A>C
n.2176A>C
c.3415A>C
c.3742A>C (p.Met1248Leu)
c.3631A>C (p.Met1211Leu)
c.3667A>C (p.Met1223Leu)
17g.31233145A>GCA398990405NF1c.3685A>G (p.Met1229Val)
c.985A>G (p.Met329Val)
c.3670A>G (p.Met1224Val)
n.366A>G
c.3640A>G (p.Met1214Val)
c.2638A>G (p.Met880Val)
c.116A>G
n.2176A>G
c.3415A>G
c.3742A>G (p.Met1248Val)
c.3631A>G (p.Met1211Val)
c.3667A>G (p.Met1223Val)
 dbSNP COSMIC COSMIC
17g.31233145A>TCA398990406NF1c.3685A>T (p.Met1229Leu)
c.985A>T (p.Met329Leu)
c.3670A>T (p.Met1224Leu)
n.366A>T
c.3640A>T (p.Met1214Leu)
c.2638A>T (p.Met880Leu)
c.116A>T
n.2176A>T
c.3415A>T
c.3742A>T (p.Met1248Leu)
c.3631A>T (p.Met1211Leu)
c.3667A>T (p.Met1223Leu)
 dbSNP
17g.31233148_31233150delCA2695224914NF1c.3688_3690del (p.Met1230del)
c.988_990del (p.Met330del)
c.3673_3675del (p.Met1225del)
n.369_371del
c.3643_3645del (p.Met1215del)
c.2641_2643del (p.Met881del)
c.119_121del
n.2179_2181del
c.3418_3420del
c.3745_3747del (p.Met1249del)
c.3634_3636del (p.Met1212del)
c.3670_3672del (p.Met1224del)
17g.31233146T>ACA398990410NF1c.3686T>A (p.Met1229Lys)
c.986T>A (p.Met329Lys)
c.3671T>A (p.Met1224Lys)
n.367T>A
c.3641T>A (p.Met1214Lys)
c.2639T>A (p.Met880Lys)
c.117T>A
n.2177T>A
c.3416T>A
c.3743T>A (p.Met1248Lys)
c.3632T>A (p.Met1211Lys)
c.3668T>A (p.Met1223Lys)
 ClinVar dbSNP
17g.31233146T>CCA398990412NF1c.3686T>C (p.Met1229Thr)
c.986T>C (p.Met329Thr)
c.3671T>C (p.Met1224Thr)
n.367T>C
c.3641T>C (p.Met1214Thr)
c.2639T>C (p.Met880Thr)
c.117T>C
n.2177T>C
c.3416T>C
c.3743T>C (p.Met1248Thr)
c.3632T>C (p.Met1211Thr)
c.3668T>C (p.Met1223Thr)
 gnomAD v4
17g.31233146T>GCA398990413NF1c.3686T>G (p.Met1229Arg)
c.986T>G (p.Met329Arg)
c.3671T>G (p.Met1224Arg)
n.367T>G
c.3641T>G (p.Met1214Arg)
c.2639T>G (p.Met880Arg)
c.117T>G
n.2177T>G
c.3416T>G
c.3743T>G (p.Met1248Arg)
c.3632T>G (p.Met1211Arg)
c.3668T>G (p.Met1223Arg)
 ClinVar dbSNP
17g.31233146T=CA2255570666NF1c.3686T= (p.Met1229=)
c.986T= (p.Met329=)
c.3671T= (p.Met1224=)
n.367T=
c.3641T= (p.Met1214=)
c.2639T= (p.Met880=)
c.117T=
n.2177T=
c.3416T=
c.3743T= (p.Met1248=)
c.3632T= (p.Met1211=)
c.3668T= (p.Met1223=)
17g.31233146dupCA2499224110NF1c.3686dup (p.Met1229IlefsTer4)
c.986dup (p.Met329IlefsTer4)
c.3671dup (p.Met1224IlefsTer4)
n.367dup
c.3641dup (p.Met1214IlefsTer4)
c.2639dup (p.Met880IlefsTer4)
c.117dup
n.2177dup
c.3416dup
c.3743dup (p.Met1248IlefsTer4)
c.3632dup (p.Met1211IlefsTer4)
c.3668dup (p.Met1223IlefsTer4)
 ClinVar dbSNP
17g.31233146_31233150delCA2499224109NF1c.3686_3690del (p.Met1229ArgfsTer2)
c.986_990del (p.Met329ArgfsTer2)
c.3671_3675del (p.Met1224ArgfsTer2)
n.367_371del
c.3641_3645del (p.Met1214ArgfsTer2)
c.2639_2643del (p.Met880ArgfsTer2)
c.117_121del
n.2177_2181del
c.3416_3420del
c.3743_3747del (p.Met1248ArgfsTer2)
c.3632_3636del (p.Met1211ArgfsTer2)
c.3668_3672del (p.Met1223ArgfsTer2)
 ClinVar dbSNP
17g.31233147G>ACA398990415NF1c.3687G>A (p.Met1229Ile)
c.987G>A (p.Met329Ile)
c.3672G>A (p.Met1224Ile)
n.368G>A
c.3642G>A (p.Met1214Ile)
c.2640G>A (p.Met880Ile)
c.118G>A
n.2178G>A
c.3417G>A
c.3744G>A (p.Met1248Ile)
c.3633G>A (p.Met1211Ile)
c.3669G>A (p.Met1223Ile)
 dbSNP
17g.31233147G>CCA398990417NF1c.3687G>C (p.Met1229Ile)
c.987G>C (p.Met329Ile)
c.3672G>C (p.Met1224Ile)
n.368G>C
c.3642G>C (p.Met1214Ile)
c.2640G>C (p.Met880Ile)
c.118G>C
n.2178G>C
c.3417G>C
c.3744G>C (p.Met1248Ile)
c.3633G>C (p.Met1211Ile)
c.3669G>C (p.Met1223Ile)
 dbSNP
17g.31233147G>TCA398990418NF1c.3687G>T (p.Met1229Ile)
c.987G>T (p.Met329Ile)
c.3672G>T (p.Met1224Ile)
n.368G>T
c.3642G>T (p.Met1214Ile)
c.2640G>T (p.Met880Ile)
c.118G>T
n.2178G>T
c.3417G>T
c.3744G>T (p.Met1248Ile)
c.3633G>T (p.Met1211Ile)
c.3669G>T (p.Met1223Ile)
17g.31233148A=CA2255570668NF1c.3688A= (p.Met1230=)
c.988A= (p.Met330=)
c.3673A= (p.Met1225=)
n.369A=
c.3643A= (p.Met1215=)
c.2641A= (p.Met881=)
c.119A=
n.2179A=
c.3418A=
c.3745A= (p.Met1249=)
c.3634A= (p.Met1212=)
c.3670A= (p.Met1224=)
17g.31233148A>CCA398990420NF1c.3688A>C (p.Met1230Leu)
c.988A>C (p.Met330Leu)
c.3673A>C (p.Met1225Leu)
n.369A>C
c.3643A>C (p.Met1215Leu)
c.2641A>C (p.Met881Leu)
c.119A>C
n.2179A>C
c.3418A>C
c.3745A>C (p.Met1249Leu)
c.3634A>C (p.Met1212Leu)
c.3670A>C (p.Met1224Leu)
 dbSNP
17g.31233148A>GCA398990422NF1c.3688A>G (p.Met1230Val)
c.988A>G (p.Met330Val)
c.3673A>G (p.Met1225Val)
n.369A>G
c.3643A>G (p.Met1215Val)
c.2641A>G (p.Met881Val)
c.119A>G
n.2179A>G
c.3418A>G
c.3745A>G (p.Met1249Val)
c.3634A>G (p.Met1212Val)
c.3670A>G (p.Met1224Val)
 ClinVar dbSNP
17g.31233148A>TCA398990424NF1c.3688A>T (p.Met1230Leu)
c.988A>T (p.Met330Leu)
c.3673A>T (p.Met1225Leu)
n.369A>T
c.3643A>T (p.Met1215Leu)
c.2641A>T (p.Met881Leu)
c.119A>T
n.2179A>T
c.3418A>T
c.3745A>T (p.Met1249Leu)
c.3634A>T (p.Met1212Leu)
c.3670A>T (p.Met1224Leu)
 dbSNP
17g.31233149T>ACA398990425NF1c.3689T>A (p.Met1230Lys)
c.989T>A (p.Met330Lys)
c.3674T>A (p.Met1225Lys)
n.370T>A
c.3644T>A (p.Met1215Lys)
c.2642T>A (p.Met881Lys)
c.120T>A
n.2180T>A
c.3419T>A
c.3746T>A (p.Met1249Lys)
c.3635T>A (p.Met1212Lys)
c.3671T>A (p.Met1224Lys)
 ClinVar
17g.31233149T>CCA398990426NF1c.3689T>C (p.Met1230Thr)
c.989T>C (p.Met330Thr)
c.3674T>C (p.Met1225Thr)
n.370T>C
c.3644T>C (p.Met1215Thr)
c.2642T>C (p.Met881Thr)
c.120T>C
n.2180T>C
c.3419T>C
c.3746T>C (p.Met1249Thr)
c.3635T>C (p.Met1212Thr)
c.3671T>C (p.Met1224Thr)
 ClinVar dbSNP
17g.31233149T>GCA398990428NF1c.3689T>G (p.Met1230Arg)
c.989T>G (p.Met330Arg)
c.3674T>G (p.Met1225Arg)
n.370T>G
c.3644T>G (p.Met1215Arg)
c.2642T>G (p.Met881Arg)
c.120T>G
n.2180T>G
c.3419T>G
c.3746T>G (p.Met1249Arg)
c.3635T>G (p.Met1212Arg)
c.3671T>G (p.Met1224Arg)
 ClinVar dbSNP
17g.31233149T=CA2255570673NF1c.3689T= (p.Met1230=)
c.989T= (p.Met330=)
c.3674T= (p.Met1225=)
n.370T=
c.3644T= (p.Met1215=)
c.2642T= (p.Met881=)
c.120T=
n.2180T=
c.3419T=
c.3746T= (p.Met1249=)
c.3635T= (p.Met1212=)
c.3671T= (p.Met1224=)
17g.31233149dupCA2695224915NF1c.3689dup (p.Met1230IlefsTer3)
c.989dup (p.Met330IlefsTer3)
c.3674dup (p.Met1225IlefsTer3)
n.370dup
c.3644dup (p.Met1215IlefsTer3)
c.2642dup (p.Met881IlefsTer3)
c.120dup
n.2180dup
c.3419dup
c.3746dup (p.Met1249IlefsTer3)
c.3635dup (p.Met1212IlefsTer3)
c.3671dup (p.Met1224IlefsTer3)
17g.31233150G>ACA398990431NF1c.3690G>A (p.Met1230Ile)
c.990G>A (p.Met330Ile)
c.3675G>A (p.Met1225Ile)
n.371G>A
c.3645G>A (p.Met1215Ile)
c.2643G>A (p.Met881Ile)
c.121G>A
n.2181G>A
c.3420G>A
c.3747G>A (p.Met1249Ile)
c.3636G>A (p.Met1212Ile)
c.3672G>A (p.Met1224Ile)
 dbSNP COSMIC COSMIC
17g.31233150G>CCA398990435NF1c.3690G>C (p.Met1230Ile)
c.990G>C (p.Met330Ile)
c.3675G>C (p.Met1225Ile)
n.371G>C
c.3645G>C (p.Met1215Ile)
c.2643G>C (p.Met881Ile)
c.121G>C
n.2181G>C
c.3420G>C
c.3747G>C (p.Met1249Ile)
c.3636G>C (p.Met1212Ile)
c.3672G>C (p.Met1224Ile)
 dbSNP
17g.31233150G>TCA398990433NF1c.3690G>T (p.Met1230Ile)
c.990G>T (p.Met330Ile)
c.3675G>T (p.Met1225Ile)
n.371G>T
c.3645G>T (p.Met1215Ile)
c.2643G>T (p.Met881Ile)
c.121G>T
n.2181G>T
c.3420G>T
c.3747G>T (p.Met1249Ile)
c.3636G>T (p.Met1212Ile)
c.3672G>T (p.Met1224Ile)
 dbSNP COSMIC COSMIC
17g.31233152delCA2695224916NF1c.3692del (p.Gly1231ValfsTer8)
c.992del (p.Gly331ValfsTer8)
c.3677del (p.Gly1226ValfsTer8)
n.373del
c.3647del (p.Gly1216ValfsTer8)
c.2645del (p.Gly882ValfsTer8)
c.123del
n.2183del
c.3422del
c.3749del (p.Gly1250ValfsTer8)
c.3638del (p.Gly1213ValfsTer8)
c.3674del (p.Gly1225ValfsTer8)
17g.31233150_31233151insCACCCA2697559807NF1c.3690_3691insCACC (p.Gly1231HisfsTer3)
c.990_991insCACC (p.Gly331HisfsTer3)
c.3675_3676insCACC (p.Gly1226HisfsTer3)
n.371_372insCACC
c.3645_3646insCACC (p.Gly1216HisfsTer3)
c.2643_2644insCACC (p.Gly882HisfsTer3)
c.121_122insCACC
n.2181_2182insCACC
c.3420_3421insCACC
c.3747_3748insCACC (p.Gly1250HisfsTer3)
c.3636_3637insCACC (p.Gly1213HisfsTer3)
c.3672_3673insCACC (p.Gly1225HisfsTer3)
 ClinVar
17g.31233151G>ACA398990438NF1c.3691G>A (p.Gly1231Ser)
c.991G>A (p.Gly331Ser)
c.3676G>A (p.Gly1226Ser)
n.372G>A
c.3646G>A (p.Gly1216Ser)
c.2644G>A (p.Gly882Ser)
c.122G>A
n.2182G>A
c.3421G>A
c.3748G>A (p.Gly1250Ser)
c.3637G>A (p.Gly1213Ser)
c.3673G>A (p.Gly1225Ser)
 gnomAD v4
17g.31233151G>CCA398990441NF1c.3691G>C (p.Gly1231Arg)
c.991G>C (p.Gly331Arg)
c.3676G>C (p.Gly1226Arg)
n.372G>C
c.3646G>C (p.Gly1216Arg)
c.2644G>C (p.Gly882Arg)
c.122G>C
n.2182G>C
c.3421G>C
c.3748G>C (p.Gly1250Arg)
c.3637G>C (p.Gly1213Arg)
c.3673G>C (p.Gly1225Arg)
17g.31233151G=CA2255570679NF1c.3691G= (p.Gly1231=)
c.991G= (p.Gly331=)
c.3676G= (p.Gly1226=)
n.372G=
c.3646G= (p.Gly1216=)
c.2644G= (p.Gly882=)
c.122G=
n.2182G=
c.3421G=
c.3748G= (p.Gly1250=)
c.3637G= (p.Gly1213=)
c.3673G= (p.Gly1225=)
17g.31233151G>TCA398990439NF1c.3691G>T (p.Gly1231Cys)
c.991G>T (p.Gly331Cys)
c.3676G>T (p.Gly1226Cys)
n.372G>T
c.3646G>T (p.Gly1216Cys)
c.2644G>T (p.Gly882Cys)
c.122G>T
n.2182G>T
c.3421G>T
c.3748G>T (p.Gly1250Cys)
c.3637G>T (p.Gly1213Cys)
c.3673G>T (p.Gly1225Cys)
 ClinVar dbSNP gnomAD v4
17g.31233152G>ACA398990444NF1c.3692G>A (p.Gly1231Asp)
c.992G>A (p.Gly331Asp)
c.3677G>A (p.Gly1226Asp)
n.373G>A
c.3647G>A (p.Gly1216Asp)
c.2645G>A (p.Gly882Asp)
c.123G>A
n.2183G>A
c.3422G>A
c.3749G>A (p.Gly1250Asp)
c.3638G>A (p.Gly1213Asp)
c.3674G>A (p.Gly1225Asp)
 ClinVar dbSNP
17g.31233152G>CCA398990446NF1c.3692G>C (p.Gly1231Ala)
c.992G>C (p.Gly331Ala)
c.3677G>C (p.Gly1226Ala)
n.373G>C
c.3647G>C (p.Gly1216Ala)
c.2645G>C (p.Gly882Ala)
c.123G>C
n.2183G>C
c.3422G>C
c.3749G>C (p.Gly1250Ala)
c.3638G>C (p.Gly1213Ala)
c.3674G>C (p.Gly1225Ala)
 dbSNP
17g.31233152G>TCA398990449NF1c.3692G>T (p.Gly1231Val)
c.992G>T (p.Gly331Val)
c.3677G>T (p.Gly1226Val)
n.373G>T
c.3647G>T (p.Gly1216Val)
c.2645G>T (p.Gly882Val)
c.123G>T
n.2183G>T
c.3422G>T
c.3749G>T (p.Gly1250Val)
c.3638G>T (p.Gly1213Val)
c.3674G>T (p.Gly1225Val)
 dbSNP
17g.31233153T>ACA16615633NF1c.3693T>A (p.Gly1231=)
c.993T>A (p.Gly331=)
c.3678T>A (p.Gly1226=)
n.374T>A
c.3648T>A (p.Gly1216=)
c.2646T>A (p.Gly882=)
c.124T>A
n.2184T>A
c.3423T>A
c.3750T>A (p.Gly1250=)
c.3639T>A (p.Gly1213=)
c.3675T>A (p.Gly1225=)
 ClinVar dbSNP
17g.31233153T>CCA499443812NF1c.3693T>C (p.Gly1231=)
c.993T>C (p.Gly331=)
c.3678T>C (p.Gly1226=)
n.374T>C
c.3648T>C (p.Gly1216=)
c.2646T>C (p.Gly882=)
c.124T>C
n.2184T>C
c.3423T>C
c.3750T>C (p.Gly1250=)
c.3639T>C (p.Gly1213=)
c.3675T>C (p.Gly1225=)
 dbSNP
17g.31233153T>GCA499443811NF1c.3693T>G (p.Gly1231=)
c.993T>G (p.Gly331=)
c.3678T>G (p.Gly1226=)
n.374T>G
c.3648T>G (p.Gly1216=)
c.2646T>G (p.Gly882=)
c.124T>G
n.2184T>G
c.3423T>G
c.3750T>G (p.Gly1250=)
c.3639T>G (p.Gly1213=)
c.3675T>G (p.Gly1225=)
 dbSNP
17g.31233153T=CA2255570683NF1c.3693T= (p.Gly1231=)
c.993T= (p.Gly331=)
c.3678T= (p.Gly1226=)
n.374T=
c.3648T= (p.Gly1216=)
c.2646T= (p.Gly882=)
c.124T=
n.2184T=
c.3423T=
c.3750T= (p.Gly1250=)
c.3639T= (p.Gly1213=)
c.3675T= (p.Gly1225=)
17g.31233154G>ACA398990451NF1c.3694G>A (p.Asp1232Asn)
c.994G>A (p.Asp332Asn)
c.3679G>A (p.Asp1227Asn)
n.375G>A
c.3649G>A (p.Asp1217Asn)
c.2647G>A (p.Asp883Asn)
c.125G>A
n.2185G>A
c.3424G>A
c.3751G>A (p.Asp1251Asn)
c.3640G>A (p.Asp1214Asn)
c.3676G>A (p.Asp1226Asn)
 ClinVar dbSNP
17g.31233154G>CCA398990453NF1c.3694G>C (p.Asp1232His)
c.994G>C (p.Asp332His)
c.3679G>C (p.Asp1227His)
n.375G>C
c.3649G>C (p.Asp1217His)
c.2647G>C (p.Asp883His)
c.125G>C
n.2185G>C
c.3424G>C
c.3751G>C (p.Asp1251His)
c.3640G>C (p.Asp1214His)
c.3676G>C (p.Asp1226His)
 dbSNP
17g.31233154G>TCA398990456NF1c.3694G>T (p.Asp1232Tyr)
c.994G>T (p.Asp332Tyr)
c.3679G>T (p.Asp1227Tyr)
n.375G>T
c.3649G>T (p.Asp1217Tyr)
c.2647G>T (p.Asp883Tyr)
c.125G>T
n.2185G>T
c.3424G>T
c.3751G>T (p.Asp1251Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3676G>T (p.Asp1226Tyr)
 dbSNP
17g.31233154dupCA658761069NF1c.3694dup (p.Asp1232GlyfsTer22)
c.994dup (p.Asp332GlyfsTer22)
c.3679dup (p.Asp1227GlyfsTer22)
n.375dup
c.3649dup (p.Asp1217GlyfsTer22)
c.2647dup (p.Asp883GlyfsTer22)
c.125dup
n.2185dup
c.3424dup
c.3751dup (p.Asp1251GlyfsTer22)
c.3640dup (p.Asp1214GlyfsTer22)
c.3676dup (p.Asp1226GlyfsTer22)
17g.31233155A>CCA398990460NF1c.3695A>C (p.Asp1232Ala)
c.995A>C (p.Asp332Ala)
c.3680A>C (p.Asp1227Ala)
n.376A>C
c.3650A>C (p.Asp1217Ala)
c.2648A>C (p.Asp883Ala)
c.126A>C
n.2186A>C
c.3425A>C
c.3752A>C (p.Asp1251Ala)
c.3641A>C (p.Asp1214Ala)
c.3677A>C (p.Asp1226Ala)
17g.31233155A>GCA398990462NF1c.3695A>G (p.Asp1232Gly)
c.995A>G (p.Asp332Gly)
c.3680A>G (p.Asp1227Gly)
n.376A>G
c.3650A>G (p.Asp1217Gly)
c.2648A>G (p.Asp883Gly)
c.126A>G
n.2186A>G
c.3425A>G
c.3752A>G (p.Asp1251Gly)
c.3641A>G (p.Asp1214Gly)
c.3677A>G (p.Asp1226Gly)
 ClinVar
17g.31233155A>TCA398990464NF1c.3695A>T (p.Asp1232Val)
c.995A>T (p.Asp332Val)
c.3680A>T (p.Asp1227Val)
n.376A>T
c.3650A>T (p.Asp1217Val)
c.2648A>T (p.Asp883Val)
c.126A>T
n.2186A>T
c.3425A>T
c.3752A>T (p.Asp1251Val)
c.3641A>T (p.Asp1214Val)
c.3677A>T (p.Asp1226Val)
 ClinVar dbSNP
17g.31233156T>ACA398990467NF1c.3696T>A (p.Asp1232Glu)
c.996T>A (p.Asp332Glu)
c.3681T>A (p.Asp1227Glu)
n.377T>A
c.3651T>A (p.Asp1217Glu)
c.2649T>A (p.Asp883Glu)
c.127T>A
n.2187T>A
c.3426T>A
c.3753T>A (p.Asp1251Glu)
c.3642T>A (p.Asp1214Glu)
c.3678T>A (p.Asp1226Glu)
17g.31233156T>CCA499443816NF1c.3696T>C (p.Asp1232=)
c.996T>C (p.Asp332=)
c.3681T>C (p.Asp1227=)
n.377T>C
c.3651T>C (p.Asp1217=)
c.2649T>C (p.Asp883=)
c.127T>C
n.2187T>C
c.3426T>C
c.3753T>C (p.Asp1251=)
c.3642T>C (p.Asp1214=)
c.3678T>C (p.Asp1226=)
 ClinVar dbSNP
17g.31233156T>GCA398990468NF1c.3696T>G (p.Asp1232Glu)
c.996T>G (p.Asp332Glu)
c.3681T>G (p.Asp1227Glu)
n.377T>G
c.3651T>G (p.Asp1217Glu)
c.2649T>G (p.Asp883Glu)
c.127T>G
n.2187T>G
c.3426T>G
c.3753T>G (p.Asp1251Glu)
c.3642T>G (p.Asp1214Glu)
c.3678T>G (p.Asp1226Glu)
 ClinVar dbSNP
17g.31233156T=CA2255570686NF1c.3696T= (p.Asp1232=)
c.996T= (p.Asp332=)
c.3681T= (p.Asp1227=)
n.377T=
c.3651T= (p.Asp1217=)
c.2649T= (p.Asp883=)
c.127T=
n.2187T=
c.3426T=
c.3753T= (p.Asp1251=)
c.3642T= (p.Asp1214=)
c.3678T= (p.Asp1226=)
17g.31233157C>ACA398990476NF1c.3697C>A (p.Gln1233Lys)
c.997C>A (p.Gln333Lys)
c.3682C>A (p.Gln1228Lys)
n.378C>A
c.3652C>A (p.Gln1218Lys)
c.2650C>A (p.Gln884Lys)
c.128C>A
n.2188C>A
c.3427C>A
c.3754C>A (p.Gln1252Lys)
c.3643C>A (p.Gln1215Lys)
c.3679C>A (p.Gln1227Lys)
17g.31233157C>GCA398990473NF1c.3697C>G (p.Gln1233Glu)
c.997C>G (p.Gln333Glu)
c.3682C>G (p.Gln1228Glu)
n.378C>G
c.3652C>G (p.Gln1218Glu)
c.2650C>G (p.Gln884Glu)
c.128C>G
n.2188C>G
c.3427C>G
c.3754C>G (p.Gln1252Glu)
c.3643C>G (p.Gln1215Glu)
c.3679C>G (p.Gln1227Glu)
17g.31233157C>TCA398990470NF1c.3697C>T (p.Gln1233Ter)
c.997C>T (p.Gln333Ter)
c.3682C>T (p.Gln1228Ter)
n.378C>T
c.3652C>T (p.Gln1218Ter)
c.2650C>T (p.Gln884Ter)
c.128C>T
n.2188C>T
c.3427C>T
c.3754C>T (p.Gln1252Ter)
c.3643C>T (p.Gln1215Ter)
c.3679C>T (p.Gln1227Ter)
 ClinVar COSMIC COSMIC
17g.31233158A=CA2255570688NF1c.3698A= (p.Gln1233=)
c.998A= (p.Gln333=)
c.3683A= (p.Gln1228=)
n.379A=
c.3653A= (p.Gln1218=)
c.2651A= (p.Gln884=)
c.129A=
n.2189A=
c.3428A=
c.3755A= (p.Gln1252=)
c.3644A= (p.Gln1215=)
c.3680A= (p.Gln1227=)
17g.31233158A>CCA398990478NF1c.3698A>C (p.Gln1233Pro)
c.998A>C (p.Gln333Pro)
c.3683A>C (p.Gln1228Pro)
n.379A>C
c.3653A>C (p.Gln1218Pro)
c.2651A>C (p.Gln884Pro)
c.129A>C
n.2189A>C
c.3428A>C
c.3755A>C (p.Gln1252Pro)
c.3644A>C (p.Gln1215Pro)
c.3680A>C (p.Gln1227Pro)
 ClinVar dbSNP
17g.31233158A>GCA10580289NF1c.3698A>G (p.Gln1233Arg)
c.998A>G (p.Gln333Arg)
c.3683A>G (p.Gln1228Arg)
n.379A>G
c.3653A>G (p.Gln1218Arg)
c.2651A>G (p.Gln884Arg)
c.129A>G
n.2189A>G
c.3428A>G
c.3755A>G (p.Gln1252Arg)
c.3644A>G (p.Gln1215Arg)
c.3680A>G (p.Gln1227Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31233158A>TCA398990481NF1c.3698A>T (p.Gln1233Leu)
c.998A>T (p.Gln333Leu)
c.3683A>T (p.Gln1228Leu)
n.379A>T
c.3653A>T (p.Gln1218Leu)
c.2651A>T (p.Gln884Leu)
c.129A>T
n.2189A>T
c.3428A>T
c.3755A>T (p.Gln1252Leu)
c.3644A>T (p.Gln1215Leu)
c.3680A>T (p.Gln1227Leu)
 dbSNP
17g.31233158_31233161delinsAAGGCA2255570691NF1c.3698_3701delinsAAGG (p.Gln1233=)
c.998_1001delinsAAGG (p.Gln333=)
c.3683_3686delinsAAGG (p.Gln1228=)
n.379_382delinsAAGG
c.3653_3656delinsAAGG (p.Gln1218=)
c.2651_2654delinsAAGG (p.Gln884=)
c.129_132delinsAAGG
n.2189_2192delinsAAGG
c.3428_3431delinsAAGG
c.3755_3758delinsAAGG (p.Gln1252=)
c.3644_3647delinsAAGG (p.Gln1215=)
c.3680_3683delinsAAGG (p.Gln1227=)
17g.31233159A=CA2255570698NF1c.3699A= (p.Gln1233=)
c.999A= (p.Gln333=)
c.3684A= (p.Gln1228=)
n.380A=
c.3654A= (p.Gln1218=)
c.2652A= (p.Gln884=)
c.130A=
n.2190A=
c.3429A=
c.3756A= (p.Gln1252=)
c.3645A= (p.Gln1215=)
c.3681A= (p.Gln1227=)
17g.31233159A>CCA398990482NF1c.3699A>C (p.Gln1233His)
c.999A>C (p.Gln333His)
c.3684A>C (p.Gln1228His)
n.380A>C
c.3654A>C (p.Gln1218His)
c.2652A>C (p.Gln884His)
c.130A>C
n.2190A>C
c.3429A>C
c.3756A>C (p.Gln1252His)
c.3645A>C (p.Gln1215His)
c.3681A>C (p.Gln1227His)
17g.31233159A>GCA499443823NF1c.3699A>G (p.Gln1233=)
c.999A>G (p.Gln333=)
c.3684A>G (p.Gln1228=)
n.380A>G
c.3654A>G (p.Gln1218=)
c.2652A>G (p.Gln884=)
c.130A>G
n.2190A>G
c.3429A>G
c.3756A>G (p.Gln1252=)
c.3645A>G (p.Gln1215=)
c.3681A>G (p.Gln1227=)
 dbSNP gnomAD v3 gnomAD v4
17g.31233159A>TCA398990484NF1c.3699A>T (p.Gln1233His)
c.999A>T (p.Gln333His)
c.3684A>T (p.Gln1228His)
n.380A>T
c.3654A>T (p.Gln1218His)
c.2652A>T (p.Gln884His)
c.130A>T
n.2190A>T
c.3429A>T
c.3756A>T (p.Gln1252His)
c.3645A>T (p.Gln1215His)
c.3681A>T (p.Gln1227His)
 dbSNP
17g.31233161_31233163delCA658824756NF1c.3701_3703del (p.Gly1234del)
c.1001_1003del (p.Gly334del)
c.3686_3688del (p.Gly1229del)
n.382_384del
c.3656_3658del (p.Gly1219del)
c.2654_2656del (p.Gly885del)
c.132_134del
n.2192_2194del
c.3431_3433del
c.3758_3760del (p.Gly1253del)
c.3647_3649del (p.Gly1216del)
c.3683_3685del (p.Gly1228del)
 ClinVar dbSNP
17g.31233160G>ACA398990487NF1c.3700G>A (p.Gly1234Arg)
c.1000G>A (p.Gly334Arg)
c.3685G>A (p.Gly1229Arg)
n.381G>A
c.3655G>A (p.Gly1219Arg)
c.2653G>A (p.Gly885Arg)
c.131G>A
n.2191G>A
c.3430G>A
c.3757G>A (p.Gly1253Arg)
c.3646G>A (p.Gly1216Arg)
c.3682G>A (p.Gly1228Arg)
 ClinVar dbSNP
17g.31233160G>CCA398990489NF1c.3700G>C (p.Gly1234Arg)
c.1000G>C (p.Gly334Arg)
c.3685G>C (p.Gly1229Arg)
n.381G>C
c.3655G>C (p.Gly1219Arg)
c.2653G>C (p.Gly885Arg)
c.131G>C
n.2191G>C
c.3430G>C
c.3757G>C (p.Gly1253Arg)
c.3646G>C (p.Gly1216Arg)
c.3682G>C (p.Gly1228Arg)
 ClinVar dbSNP
17g.31233160G=CA2255570700NF1c.3700G= (p.Gly1234=)
c.1000G= (p.Gly334=)
c.3685G= (p.Gly1229=)
n.381G=
c.3655G= (p.Gly1219=)
c.2653G= (p.Gly885=)
c.131G=
n.2191G=
c.3430G=
c.3757G= (p.Gly1253=)
c.3646G= (p.Gly1216=)
c.3682G= (p.Gly1228=)
17g.31233160G>TCA398990490NF1c.3700G>T (p.Gly1234Ter)
c.1000G>T (p.Gly334Ter)
c.3685G>T (p.Gly1229Ter)
n.381G>T
c.3655G>T (p.Gly1219Ter)
c.2653G>T (p.Gly885Ter)
c.131G>T
n.2191G>T
c.3430G>T
c.3757G>T (p.Gly1253Ter)
c.3646G>T (p.Gly1216Ter)
c.3682G>T (p.Gly1228Ter)
 dbSNP
17g.31233161G>ACA398990493NF1c.3701G>A (p.Gly1234Glu)
c.1001G>A (p.Gly334Glu)
c.3686G>A (p.Gly1229Glu)
n.382G>A
c.3656G>A (p.Gly1219Glu)
c.2654G>A (p.Gly885Glu)
c.132G>A
n.2192G>A
c.3431G>A
c.3758G>A (p.Gly1253Glu)
c.3647G>A (p.Gly1216Glu)
c.3683G>A (p.Gly1228Glu)
 ClinVar dbSNP
17g.31233161G>CCA398990494NF1c.3701G>C (p.Gly1234Ala)
c.1001G>C (p.Gly334Ala)
c.3686G>C (p.Gly1229Ala)
n.382G>C
c.3656G>C (p.Gly1219Ala)
c.2654G>C (p.Gly885Ala)
c.132G>C
n.2192G>C
c.3431G>C
c.3758G>C (p.Gly1253Ala)
c.3647G>C (p.Gly1216Ala)
c.3683G>C (p.Gly1228Ala)
 dbSNP
17g.31233161G=CA2255570704NF1c.3701G= (p.Gly1234=)
c.1001G= (p.Gly334=)
c.3686G= (p.Gly1229=)
n.382G=
c.3656G= (p.Gly1219=)
c.2654G= (p.Gly885=)
c.132G=
n.2192G=
c.3431G=
c.3758G= (p.Gly1253=)
c.3647G= (p.Gly1216=)
c.3683G= (p.Gly1228=)
17g.31233161G>TCA10583495NF1c.3701G>T (p.Gly1234Val)
c.1001G>T (p.Gly334Val)
c.3686G>T (p.Gly1229Val)
n.382G>T
c.3656G>T (p.Gly1219Val)
c.2654G>T (p.Gly885Val)
c.132G>T
n.2192G>T
c.3431G>T
c.3758G>T (p.Gly1253Val)
c.3647G>T (p.Gly1216Val)
c.3683G>T (p.Gly1228Val)
 ClinVar dbSNP
17g.31233163_31233164delCA2759543836NF1c.3703_3704del (p.Glu1235ThrfsTer18)
c.1003_1004del (p.Glu335ThrfsTer18)
c.3688_3689del (p.Glu1230ThrfsTer18)
n.384_385del
c.3658_3659del (p.Glu1220ThrfsTer18)
c.2656_2657del (p.Glu886ThrfsTer18)
c.134_135del
n.2194_2195del
c.3433_3434del
c.3760_3761del (p.Glu1254ThrfsTer18)
c.3649_3650del (p.Glu1217ThrfsTer18)
c.3685_3686del (p.Glu1229ThrfsTer18)
17g.31233162A=CA2255570717NF1c.3702A= (p.Gly1234=)
c.1002A= (p.Gly334=)
c.3687A= (p.Gly1229=)
n.383A=
c.3657A= (p.Gly1219=)
c.2655A= (p.Gly885=)
c.133A=
n.2193A=
c.3432A=
c.3759A= (p.Gly1253=)
c.3648A= (p.Gly1216=)
c.3684A= (p.Gly1228=)
17g.31233162A>CCA499443824NF1c.3702A>C (p.Gly1234=)
c.1002A>C (p.Gly334=)
c.3687A>C (p.Gly1229=)
n.383A>C
c.3657A>C (p.Gly1219=)
c.2655A>C (p.Gly885=)
c.133A>C
n.2193A>C
c.3432A>C
c.3759A>C (p.Gly1253=)
c.3648A>C (p.Gly1216=)
c.3684A>C (p.Gly1228=)
17g.31233162A>GCA499443825NF1c.3702A>G (p.Gly1234=)
c.1002A>G (p.Gly334=)
c.3687A>G (p.Gly1229=)
n.383A>G
c.3657A>G (p.Gly1219=)
c.2655A>G (p.Gly885=)
c.133A>G
n.2193A>G
c.3432A>G
c.3759A>G (p.Gly1253=)
c.3648A>G (p.Gly1216=)
c.3684A>G (p.Gly1228=)
 dbSNP
17g.31233162A>TCA499443826NF1c.3702A>T (p.Gly1234=)
c.1002A>T (p.Gly334=)
c.3687A>T (p.Gly1229=)
n.383A>T
c.3657A>T (p.Gly1219=)
c.2655A>T (p.Gly885=)
c.133A>T
n.2193A>T
c.3432A>T
c.3759A>T (p.Gly1253=)
c.3648A>T (p.Gly1216=)
c.3684A>T (p.Gly1228=)
 dbSNP
17g.31233162dupCA891843818NF1c.3702dup (p.Glu1235ArgfsTer19)
c.1002dup (p.Glu335ArgfsTer19)
c.3687dup (p.Glu1230ArgfsTer19)
n.383dup
c.3657dup (p.Glu1220ArgfsTer19)
c.2655dup (p.Glu886ArgfsTer19)
c.133dup
n.2193dup
c.3432dup
c.3759dup (p.Glu1254ArgfsTer19)
c.3648dup (p.Glu1217ArgfsTer19)
c.3684dup (p.Glu1229ArgfsTer19)
 ClinVar dbSNP
17g.31233163G>ACA398990502NF1c.3703G>A (p.Glu1235Lys)
c.1003G>A (p.Glu335Lys)
c.3688G>A (p.Glu1230Lys)
n.384G>A
c.3658G>A (p.Glu1220Lys)
c.2656G>A (p.Glu886Lys)
c.134G>A
n.2194G>A
c.3433G>A
c.3760G>A (p.Glu1254Lys)
c.3649G>A (p.Glu1217Lys)
c.3685G>A (p.Glu1229Lys)
 ClinVar dbSNP
17g.31233163G>CCA398990500NF1c.3703G>C (p.Glu1235Gln)
c.1003G>C (p.Glu335Gln)
c.3688G>C (p.Glu1230Gln)
n.384G>C
c.3658G>C (p.Glu1220Gln)
c.2656G>C (p.Glu886Gln)
c.134G>C
n.2194G>C
c.3433G>C
c.3760G>C (p.Glu1254Gln)
c.3649G>C (p.Glu1217Gln)
c.3685G>C (p.Glu1229Gln)
 ClinVar dbSNP
17g.31233163G=CA2255570721NF1c.3703G= (p.Glu1235=)
c.1003G= (p.Glu335=)
c.3688G= (p.Glu1230=)
n.384G=
c.3658G= (p.Glu1220=)
c.2656G= (p.Glu886=)
c.134G=
n.2194G=
c.3433G=
c.3760G= (p.Glu1254=)
c.3649G= (p.Glu1217=)
c.3685G= (p.Glu1229=)
17g.31233163G>TCA398990499NF1c.3703G>T (p.Glu1235Ter)
c.1003G>T (p.Glu335Ter)
c.3688G>T (p.Glu1230Ter)
n.384G>T
c.3658G>T (p.Glu1220Ter)
c.2656G>T (p.Glu886Ter)
c.134G>T
n.2194G>T
c.3433G>T
c.3760G>T (p.Glu1254Ter)
c.3649G>T (p.Glu1217Ter)
c.3685G>T (p.Glu1229Ter)
 dbSNP gnomAD v4
17g.31233163_31233164insTTTGCA1139665340NF1c.3703_3704insTTTG (p.Glu1235ValfsTer2)
c.1003_1004insTTTG (p.Glu335ValfsTer2)
c.3688_3689insTTTG (p.Glu1230ValfsTer2)
n.384_385insTTTG
c.3658_3659insTTTG (p.Glu1220ValfsTer2)
c.2656_2657insTTTG (p.Glu886ValfsTer2)
c.134_135insTTTG
n.2194_2195insTTTG
c.3433_3434insTTTG
c.3760_3761insTTTG (p.Glu1254ValfsTer2)
c.3649_3650insTTTG (p.Glu1217ValfsTer2)
c.3685_3686insTTTG (p.Glu1229ValfsTer2)
 ClinVar dbSNP
17g.31233164A=CA2255570723NF1c.3704A= (p.Glu1235=)
c.1004A= (p.Glu335=)
c.3689A= (p.Glu1230=)
n.385A=
c.3659A= (p.Glu1220=)
c.2657A= (p.Glu886=)
c.135A=
n.2195A=
c.3434A=
c.3761A= (p.Glu1254=)
c.3650A= (p.Glu1217=)
c.3686A= (p.Glu1229=)
17g.31233164A>CCA398990505NF1c.3704A>C (p.Glu1235Ala)
c.1004A>C (p.Glu335Ala)
c.3689A>C (p.Glu1230Ala)
n.385A>C
c.3659A>C (p.Glu1220Ala)
c.2657A>C (p.Glu886Ala)
c.135A>C
n.2195A>C
c.3434A>C
c.3761A>C (p.Glu1254Ala)
c.3650A>C (p.Glu1217Ala)
c.3686A>C (p.Glu1229Ala)
 ClinVar dbSNP
17g.31233164A>GCA398990507NF1c.3704A>G (p.Glu1235Gly)
c.1004A>G (p.Glu335Gly)
c.3689A>G (p.Glu1230Gly)
n.385A>G
c.3659A>G (p.Glu1220Gly)
c.2657A>G (p.Glu886Gly)
c.135A>G
n.2195A>G
c.3434A>G
c.3761A>G (p.Glu1254Gly)
c.3650A>G (p.Glu1217Gly)
c.3686A>G (p.Glu1229Gly)
 dbSNP
17g.31233164A>TCA398990510NF1c.3704A>T (p.Glu1235Val)
c.1004A>T (p.Glu335Val)
c.3689A>T (p.Glu1230Val)
n.385A>T
c.3659A>T (p.Glu1220Val)
c.2657A>T (p.Glu886Val)
c.135A>T
n.2195A>T
c.3434A>T
c.3761A>T (p.Glu1254Val)
c.3650A>T (p.Glu1217Val)
c.3686A>T (p.Glu1229Val)
17g.31233165A=CA2255570728NF1c.3705A= (p.Glu1235=)
c.1005A= (p.Glu335=)
c.3690A= (p.Glu1230=)
n.386A=
c.3660A= (p.Glu1220=)
c.2658A= (p.Glu886=)
c.136A=
n.2196A=
c.3435A=
c.3762A= (p.Glu1254=)
c.3651A= (p.Glu1217=)
c.3687A= (p.Glu1229=)
17g.31233165A>CCA398990512NF1c.3705A>C (p.Glu1235Asp)
c.1005A>C (p.Glu335Asp)
c.3690A>C (p.Glu1230Asp)
n.386A>C
c.3660A>C (p.Glu1220Asp)
c.2658A>C (p.Glu886Asp)
c.136A>C
n.2196A>C
c.3435A>C
c.3762A>C (p.Glu1254Asp)
c.3651A>C (p.Glu1217Asp)
c.3687A>C (p.Glu1229Asp)
 dbSNP
17g.31233165A>GCA499443829NF1c.3705A>G (p.Glu1235=)
c.1005A>G (p.Glu335=)
c.3690A>G (p.Glu1230=)
n.386A>G
c.3660A>G (p.Glu1220=)
c.2658A>G (p.Glu886=)
c.136A>G
n.2196A>G
c.3435A>G
c.3762A>G (p.Glu1254=)
c.3651A>G (p.Glu1217=)
c.3687A>G (p.Glu1229=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.31233165A>TCA398990515NF1c.3705A>T (p.Glu1235Asp)
c.1005A>T (p.Glu335Asp)
c.3690A>T (p.Glu1230Asp)
n.386A>T
c.3660A>T (p.Glu1220Asp)
c.2658A>T (p.Glu886Asp)
c.136A>T
n.2196A>T
c.3435A>T
c.3762A>T (p.Glu1254Asp)
c.3651A>T (p.Glu1217Asp)
c.3687A>T (p.Glu1229Asp)
 ClinVar dbSNP
17g.31233166C>ACA398990518NF1c.3706C>A (p.Leu1236Ile)
c.1006C>A (p.Leu336Ile)
c.3691C>A (p.Leu1231Ile)
n.387C>A
c.3661C>A (p.Leu1221Ile)
c.2659C>A (p.Leu887Ile)
c.137C>A
n.2197C>A
c.3436C>A
c.3763C>A (p.Leu1255Ile)
c.3652C>A (p.Leu1218Ile)
c.3688C>A (p.Leu1230Ile)
 dbSNP
17g.31233166C=CA2255570731NF1c.3706C= (p.Leu1236=)
c.1006C= (p.Leu336=)
c.3691C= (p.Leu1231=)
n.387C=
c.3661C= (p.Leu1221=)
c.2659C= (p.Leu887=)
c.137C=
n.2197C=
c.3436C=
c.3763C= (p.Leu1255=)
c.3652C= (p.Leu1218=)
c.3688C= (p.Leu1230=)
17g.31233166C>GCA8486199NF1c.3706C>G (p.Leu1236Val)
c.1006C>G (p.Leu336Val)
c.3691C>G (p.Leu1231Val)
n.387C>G
c.3661C>G (p.Leu1221Val)
c.2659C>G (p.Leu887Val)
c.137C>G
n.2197C>G
c.3436C>G
c.3763C>G (p.Leu1255Val)
c.3652C>G (p.Leu1218Val)
c.3688C>G (p.Leu1230Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233166C>TCA398990520NF1c.3706C>T (p.Leu1236Phe)
c.1006C>T (p.Leu336Phe)
c.3691C>T (p.Leu1231Phe)
n.387C>T
c.3661C>T (p.Leu1221Phe)
c.2659C>T (p.Leu887Phe)
c.137C>T
n.2197C>T
c.3436C>T
c.3763C>T (p.Leu1255Phe)
c.3652C>T (p.Leu1218Phe)
c.3688C>T (p.Leu1230Phe)
 ClinVar dbSNP
17g.31233167delCA2580093090NF1c.3707del (p.Leu1236ProfsTer3)
c.1007del (p.Leu336ProfsTer3)
c.3692del (p.Leu1231ProfsTer3)
n.388del
c.3662del (p.Leu1221ProfsTer3)
c.2660del (p.Leu887ProfsTer3)
c.138del
n.2198del
c.3437del
c.3764del (p.Leu1255ProfsTer3)
c.3653del (p.Leu1218ProfsTer3)
c.3689del (p.Leu1230ProfsTer3)
 ClinVar
17g.31233167T>ACA398990523NF1c.3707T>A (p.Leu1236His)
c.1007T>A (p.Leu336His)
c.3692T>A (p.Leu1231His)
n.388T>A
c.3662T>A (p.Leu1221His)
c.2660T>A (p.Leu887His)
c.138T>A
n.2198T>A
c.3437T>A
c.3764T>A (p.Leu1255His)
c.3653T>A (p.Leu1218His)
c.3689T>A (p.Leu1230His)
 dbSNP gnomAD v4
17g.31233167T>CCA398990524NF1c.3707T>C (p.Leu1236Pro)
c.1007T>C (p.Leu336Pro)
c.3692T>C (p.Leu1231Pro)
n.388T>C
c.3662T>C (p.Leu1221Pro)
c.2660T>C (p.Leu887Pro)
c.138T>C
n.2198T>C
c.3437T>C
c.3764T>C (p.Leu1255Pro)
c.3653T>C (p.Leu1218Pro)
c.3689T>C (p.Leu1230Pro)
 ClinVar dbSNP
17g.31233167T>GCA398990527NF1c.3707T>G (p.Leu1236Arg)
c.1007T>G (p.Leu336Arg)
c.3692T>G (p.Leu1231Arg)
n.388T>G
c.3662T>G (p.Leu1221Arg)
c.2660T>G (p.Leu887Arg)
c.138T>G
n.2198T>G
c.3437T>G
c.3764T>G (p.Leu1255Arg)
c.3653T>G (p.Leu1218Arg)
c.3689T>G (p.Leu1230Arg)
 ClinVar dbSNP
17g.31233167T=CA2255570735NF1c.3707T= (p.Leu1236=)
c.1007T= (p.Leu336=)
c.3692T= (p.Leu1231=)
n.388T=
c.3662T= (p.Leu1221=)
c.2660T= (p.Leu887=)
c.138T=
n.2198T=
c.3437T=
c.3764T= (p.Leu1255=)
c.3653T= (p.Leu1218=)
c.3689T= (p.Leu1230=)
17g.31233167_31233168delinsTCCA2255570734NF1c.3707_3708delinsTC (p.Leu1236=)
c.1007_1008delinsTC (p.Leu336=)
c.3692_3693delinsTC (p.Leu1231=)
n.388_389delinsTC
c.3662_3663delinsTC (p.Leu1221=)
c.2660_2661delinsTC (p.Leu887=)
c.138_139delinsTC
n.2198_2199delinsTC
c.3437_3438delinsTC
c.3764_3765delinsTC (p.Leu1255=)
c.3653_3654delinsTC (p.Leu1218=)
c.3689_3690delinsTC (p.Leu1230=)
17g.31233168C>ACA499443832NF1c.3708C>A (p.Leu1236=)
c.1008C>A (p.Leu336=)
c.3693C>A (p.Leu1231=)
n.389C>A
c.3663C>A (p.Leu1221=)
c.2661C>A (p.Leu887=)
c.139C>A
n.2199C>A
c.3438C>A
c.3765C>A (p.Leu1255=)
c.3654C>A (p.Leu1218=)
c.3690C>A (p.Leu1230=)
 gnomAD v4
17g.31233168C=CA2255570740NF1c.3708C= (p.Leu1236=)
c.1008C= (p.Leu336=)
c.3693C= (p.Leu1231=)
n.389C=
c.3663C= (p.Leu1221=)
c.2661C= (p.Leu887=)
c.139C=
n.2199C=
c.3438C=
c.3765C= (p.Leu1255=)
c.3654C= (p.Leu1218=)
c.3690C= (p.Leu1230=)
17g.31233168C>GCA499443831NF1c.3708C>G (p.Leu1236=)
c.1008C>G (p.Leu336=)
c.3693C>G (p.Leu1231=)
n.389C>G
c.3663C>G (p.Leu1221=)
c.2661C>G (p.Leu887=)
c.139C>G
n.2199C>G
c.3438C>G
c.3765C>G (p.Leu1255=)
c.3654C>G (p.Leu1218=)
c.3690C>G (p.Leu1230=)
 dbSNP
17g.31233168C>TCA8486200NF1c.3708C>T (p.Leu1236=)
c.1008C>T (p.Leu336=)
c.3693C>T (p.Leu1231=)
n.389C>T
c.3663C>T (p.Leu1221=)
c.2661C>T (p.Leu887=)
c.139C>T
n.2199C>T
c.3438C>T
c.3765C>T (p.Leu1255=)
c.3654C>T (p.Leu1218=)
c.3690C>T (p.Leu1230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233170delCA289338290NF1c.3710del (p.Pro1237LeufsTer2)
c.1010del (p.Pro337LeufsTer2)
c.3695del (p.Pro1232LeufsTer2)
n.391del
c.3665del (p.Pro1222LeufsTer2)
c.2663del (p.Pro888LeufsTer2)
c.141del
n.2201del
c.3440del
c.3767del (p.Pro1256LeufsTer2)
c.3656del (p.Pro1219LeufsTer2)
c.3692del (p.Pro1231LeufsTer2)
 ClinVar dbSNP
17g.31233169C>ACA398990540NF1c.3709C>A (p.Pro1237Thr)
c.1009C>A (p.Pro337Thr)
c.3694C>A (p.Pro1232Thr)
n.390C>A
c.3664C>A (p.Pro1222Thr)
c.2662C>A (p.Pro888Thr)
c.140C>A
n.2200C>A
c.3439C>A
c.3766C>A (p.Pro1256Thr)
c.3655C>A (p.Pro1219Thr)
c.3691C>A (p.Pro1231Thr)
 dbSNP
17g.31233169C=CA2255570742NF1c.3709C= (p.Pro1237=)
c.1009C= (p.Pro337=)
c.3694C= (p.Pro1232=)
n.390C=
c.3664C= (p.Pro1222=)
c.2662C= (p.Pro888=)
c.140C=
n.2200C=
c.3439C=
c.3766C= (p.Pro1256=)
c.3655C= (p.Pro1219=)
c.3691C= (p.Pro1231=)
17g.31233169C>GCA398990536NF1c.3709C>G (p.Pro1237Ala)
c.1009C>G (p.Pro337Ala)
c.3694C>G (p.Pro1232Ala)
n.390C>G
c.3664C>G (p.Pro1222Ala)
c.2662C>G (p.Pro888Ala)
c.140C>G
n.2200C>G
c.3439C>G
c.3766C>G (p.Pro1256Ala)
c.3655C>G (p.Pro1219Ala)
c.3691C>G (p.Pro1231Ala)
 ClinVar dbSNP
17g.31233169C>TCA398990538NF1c.3709C>T (p.Pro1237Ser)
c.1009C>T (p.Pro337Ser)
c.3694C>T (p.Pro1232Ser)
n.390C>T
c.3664C>T (p.Pro1222Ser)
c.2662C>T (p.Pro888Ser)
c.140C>T
n.2200C>T
c.3439C>T
c.3766C>T (p.Pro1256Ser)
c.3655C>T (p.Pro1219Ser)
c.3691C>T (p.Pro1231Ser)
 ClinVar dbSNP gnomAD v4
17g.31233170C>ACA398990543NF1c.3710C>A (p.Pro1237His)
c.1010C>A (p.Pro337His)
c.3695C>A (p.Pro1232His)
n.391C>A
c.3665C>A (p.Pro1222His)
c.2663C>A (p.Pro888His)
c.141C>A
n.2201C>A
c.3440C>A
c.3767C>A (p.Pro1256His)
c.3656C>A (p.Pro1219His)
c.3692C>A (p.Pro1231His)
 dbSNP
17g.31233170C=CA2255570746NF1c.3710C= (p.Pro1237=)
c.1010C= (p.Pro337=)
c.3695C= (p.Pro1232=)
n.391C=
c.3665C= (p.Pro1222=)
c.2663C= (p.Pro888=)
c.141C=
n.2201C=
c.3440C=
c.3767C= (p.Pro1256=)
c.3656C= (p.Pro1219=)
c.3692C= (p.Pro1231=)
17g.31233170C>GCA398990546NF1c.3710C>G (p.Pro1237Arg)
c.1010C>G (p.Pro337Arg)
c.3695C>G (p.Pro1232Arg)
n.391C>G
c.3665C>G (p.Pro1222Arg)
c.2663C>G (p.Pro888Arg)
c.141C>G
n.2201C>G
c.3440C>G
c.3767C>G (p.Pro1256Arg)
c.3656C>G (p.Pro1219Arg)
c.3692C>G (p.Pro1231Arg)
 ClinVar dbSNP
17g.31233170C>TCA8486201NF1c.3710C>T (p.Pro1237Leu)
c.1010C>T (p.Pro337Leu)
c.3695C>T (p.Pro1232Leu)
n.391C>T
c.3665C>T (p.Pro1222Leu)
c.2663C>T (p.Pro888Leu)
c.141C>T
n.2201C>T
c.3440C>T
c.3767C>T (p.Pro1256Leu)
c.3656C>T (p.Pro1219Leu)
c.3692C>T (p.Pro1231Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233171T>ACA499443835NF1c.3711T>A (p.Pro1237=)
c.1011T>A (p.Pro337=)
c.3696T>A (p.Pro1232=)
n.392T>A
c.3666T>A (p.Pro1222=)
c.2664T>A (p.Pro888=)
c.142T>A
n.2202T>A
c.3441T>A
c.3768T>A (p.Pro1256=)
c.3657T>A (p.Pro1219=)
c.3693T>A (p.Pro1231=)
 dbSNP
17g.31233171T>CCA499443836NF1c.3711T>C (p.Pro1237=)
c.1011T>C (p.Pro337=)
c.3696T>C (p.Pro1232=)
n.392T>C
c.3666T>C (p.Pro1222=)
c.2664T>C (p.Pro888=)
c.142T>C
n.2202T>C
c.3441T>C
c.3768T>C (p.Pro1256=)
c.3657T>C (p.Pro1219=)
c.3693T>C (p.Pro1231=)
 ClinVar dbSNP
17g.31233171T>GCA499443837NF1c.3711T>G (p.Pro1237=)
c.1011T>G (p.Pro337=)
c.3696T>G (p.Pro1232=)
n.392T>G
c.3666T>G (p.Pro1222=)
c.2664T>G (p.Pro888=)
c.142T>G
n.2202T>G
c.3441T>G
c.3768T>G (p.Pro1256=)
c.3657T>G (p.Pro1219=)
c.3693T>G (p.Pro1231=)
17g.31233172A=CA2255570749NF1c.3712A= (p.Ile1238=)
c.1012A= (p.Ile338=)
c.3697A= (p.Ile1233=)
n.393A=
c.3667A= (p.Ile1223=)
c.2665A= (p.Ile889=)
c.143A=
n.2203A=
c.3442A=
c.3769A= (p.Ile1257=)
c.3658A= (p.Ile1220=)
c.3694A= (p.Ile1232=)
17g.31233172A>CCA398990549NF1c.3712A>C (p.Ile1238Leu)
c.1012A>C (p.Ile338Leu)
c.3697A>C (p.Ile1233Leu)
n.393A>C
c.3667A>C (p.Ile1223Leu)
c.2665A>C (p.Ile889Leu)
c.143A>C
n.2203A>C
c.3442A>C
c.3769A>C (p.Ile1257Leu)
c.3658A>C (p.Ile1220Leu)
c.3694A>C (p.Ile1232Leu)
 dbSNP
17g.31233172A>GCA398990552NF1c.3712A>G (p.Ile1238Val)
c.1012A>G (p.Ile338Val)
c.3697A>G (p.Ile1233Val)
n.393A>G
c.3667A>G (p.Ile1223Val)
c.2665A>G (p.Ile889Val)
c.143A>G
n.2203A>G
c.3442A>G
c.3769A>G (p.Ile1257Val)
c.3658A>G (p.Ile1220Val)
c.3694A>G (p.Ile1232Val)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.31233172A>TCA398990554NF1c.3712A>T (p.Ile1238Leu)
c.1012A>T (p.Ile338Leu)
c.3697A>T (p.Ile1233Leu)
n.393A>T
c.3667A>T (p.Ile1223Leu)
c.2665A>T (p.Ile889Leu)
c.143A>T
n.2203A>T
c.3442A>T
c.3769A>T (p.Ile1257Leu)
c.3658A>T (p.Ile1220Leu)
c.3694A>T (p.Ile1232Leu)
 dbSNP
17g.31233174_31233192delCA2580093091NF1c.3714_3732del (p.Ile1238MetfsTer11)
c.1014_1032del (p.Ile338MetfsTer11)
c.3699_3717del (p.Ile1233MetfsTer11)
n.395_413del
c.3669_3687del (p.Ile1223MetfsTer11)
c.2667_2685del (p.Ile889MetfsTer11)
c.145_163del
n.2205_2223del
c.3444_3462del
c.3771_3789del (p.Ile1257MetfsTer11)
c.3660_3678del (p.Ile1220MetfsTer11)
c.3696_3714del (p.Ile1232MetfsTer11)
 ClinVar
17g.31233173T>ACA398990555NF1c.3713T>A (p.Ile1238Lys)
c.1013T>A (p.Ile338Lys)
c.3698T>A (p.Ile1233Lys)
n.394T>A
c.3668T>A (p.Ile1223Lys)
c.2666T>A (p.Ile889Lys)
c.144T>A
n.2204T>A
c.3443T>A
c.3770T>A (p.Ile1257Lys)
c.3659T>A (p.Ile1220Lys)
c.3695T>A (p.Ile1232Lys)
 dbSNP
17g.31233173T>CCA398990556NF1c.3713T>C (p.Ile1238Thr)
c.1013T>C (p.Ile338Thr)
c.3698T>C (p.Ile1233Thr)
n.394T>C
c.3668T>C (p.Ile1223Thr)
c.2666T>C (p.Ile889Thr)
c.144T>C
n.2204T>C
c.3443T>C
c.3770T>C (p.Ile1257Thr)
c.3659T>C (p.Ile1220Thr)
c.3695T>C (p.Ile1232Thr)
 ClinVar
17g.31233173T>GCA398990558NF1c.3713T>G (p.Ile1238Arg)
c.1013T>G (p.Ile338Arg)
c.3698T>G (p.Ile1233Arg)
n.394T>G
c.3668T>G (p.Ile1223Arg)
c.2666T>G (p.Ile889Arg)
c.144T>G
n.2204T>G
c.3443T>G
c.3770T>G (p.Ile1257Arg)
c.3659T>G (p.Ile1220Arg)
c.3695T>G (p.Ile1232Arg)
 ClinVar dbSNP
17g.31233173T=CA2255570755NF1c.3713T= (p.Ile1238=)
c.1013T= (p.Ile338=)
c.3698T= (p.Ile1233=)
n.394T=
c.3668T= (p.Ile1223=)
c.2666T= (p.Ile889=)
c.144T=
n.2204T=
c.3443T=
c.3770T= (p.Ile1257=)
c.3659T= (p.Ile1220=)
c.3695T= (p.Ile1232=)
17g.31233174A>CCA499443842NF1c.3714A>C (p.Ile1238=)
c.1014A>C (p.Ile338=)
c.3699A>C (p.Ile1233=)
n.395A>C
c.3669A>C (p.Ile1223=)
c.2667A>C (p.Ile889=)
c.145A>C
n.2205A>C
c.3444A>C
c.3771A>C (p.Ile1257=)
c.3660A>C (p.Ile1220=)
c.3696A>C (p.Ile1232=)
17g.31233174A>GCA398990561NF1c.3714A>G (p.Ile1238Met)
c.1014A>G (p.Ile338Met)
c.3699A>G (p.Ile1233Met)
n.395A>G
c.3669A>G (p.Ile1223Met)
c.2667A>G (p.Ile889Met)
c.145A>G
n.2205A>G
c.3444A>G
c.3771A>G (p.Ile1257Met)
c.3660A>G (p.Ile1220Met)
c.3696A>G (p.Ile1232Met)
 dbSNP
17g.31233174A>TCA499443843NF1c.3714A>T (p.Ile1238=)
c.1014A>T (p.Ile338=)
c.3699A>T (p.Ile1233=)
n.395A>T
c.3669A>T (p.Ile1223=)
c.2667A>T (p.Ile889=)
c.145A>T
n.2205A>T
c.3444A>T
c.3771A>T (p.Ile1257=)
c.3660A>T (p.Ile1220=)
c.3696A>T (p.Ile1232=)
 dbSNP
17g.31233175G>ACA398990567NF1c.3715G>A (p.Ala1239Thr)
c.1015G>A (p.Ala339Thr)
c.3700G>A (p.Ala1234Thr)
n.396G>A
c.3670G>A (p.Ala1224Thr)
c.2668G>A (p.Ala890Thr)
c.146G>A
n.2206G>A
c.3445G>A
c.3772G>A (p.Ala1258Thr)
c.3661G>A (p.Ala1221Thr)
c.3697G>A (p.Ala1233Thr)
 dbSNP
17g.31233175G>CCA398990565NF1c.3715G>C (p.Ala1239Pro)
c.1015G>C (p.Ala339Pro)
c.3700G>C (p.Ala1234Pro)
n.396G>C
c.3670G>C (p.Ala1224Pro)
c.2668G>C (p.Ala890Pro)
c.146G>C
n.2206G>C
c.3445G>C
c.3772G>C (p.Ala1258Pro)
c.3661G>C (p.Ala1221Pro)
c.3697G>C (p.Ala1233Pro)
 dbSNP
17g.31233175G=CA2255570757NF1c.3715G= (p.Ala1239=)
c.1015G= (p.Ala339=)
c.3700G= (p.Ala1234=)
n.396G=
c.3670G= (p.Ala1224=)
c.2668G= (p.Ala890=)
c.146G=
n.2206G=
c.3445G=
c.3772G= (p.Ala1258=)
c.3661G= (p.Ala1221=)
c.3697G= (p.Ala1233=)
17g.31233175G>TCA398990563NF1c.3715G>T (p.Ala1239Ser)
c.1015G>T (p.Ala339Ser)
c.3700G>T (p.Ala1234Ser)
n.396G>T
c.3670G>T (p.Ala1224Ser)
c.2668G>T (p.Ala890Ser)
c.146G>T
n.2206G>T
c.3445G>T
c.3772G>T (p.Ala1258Ser)
c.3661G>T (p.Ala1221Ser)
c.3697G>T (p.Ala1233Ser)
 dbSNP
17g.31233176C>ACA398990570NF1c.3716C>A (p.Ala1239Glu)
c.1016C>A (p.Ala339Glu)
c.3701C>A (p.Ala1234Glu)
n.397C>A
c.3671C>A (p.Ala1224Glu)
c.2669C>A (p.Ala890Glu)
c.147C>A
n.2207C>A
c.3446C>A
c.3773C>A (p.Ala1258Glu)
c.3662C>A (p.Ala1221Glu)
c.3698C>A (p.Ala1233Glu)
 dbSNP
17g.31233176C=CA2255570761NF1c.3716C= (p.Ala1239=)
c.1016C= (p.Ala339=)
c.3701C= (p.Ala1234=)
n.397C=
c.3671C= (p.Ala1224=)
c.2669C= (p.Ala890=)
c.147C=
n.2207C=
c.3446C=
c.3773C= (p.Ala1258=)
c.3662C= (p.Ala1221=)
c.3698C= (p.Ala1233=)
17g.31233176C>GCA398990571NF1c.3716C>G (p.Ala1239Gly)
c.1016C>G (p.Ala339Gly)
c.3701C>G (p.Ala1234Gly)
n.397C>G
c.3671C>G (p.Ala1224Gly)
c.2669C>G (p.Ala890Gly)
c.147C>G
n.2207C>G
c.3446C>G
c.3773C>G (p.Ala1258Gly)
c.3662C>G (p.Ala1221Gly)
c.3698C>G (p.Ala1233Gly)
 ClinVar dbSNP
17g.31233176C>TCA16615635NF1c.3716C>T (p.Ala1239Val)
c.1016C>T (p.Ala339Val)
c.3701C>T (p.Ala1234Val)
n.397C>T
c.3671C>T (p.Ala1224Val)
c.2669C>T (p.Ala890Val)
c.147C>T
n.2207C>T
c.3446C>T
c.3773C>T (p.Ala1258Val)
c.3662C>T (p.Ala1221Val)
c.3698C>T (p.Ala1233Val)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.31233176_31233177insTACA728036300NF1c.3716_3717insTA (p.Met1240ArgfsTer16)
c.1016_1017insTA (p.Met340ArgfsTer16)
c.3701_3702insTA (p.Met1235ArgfsTer16)
n.397_398insTA
c.3671_3672insTA (p.Met1225ArgfsTer16)
c.2669_2670insTA (p.Met891ArgfsTer16)
c.147_148insTA
n.2207_2208insTA
c.3446_3447insTA
c.3773_3774insTA (p.Met1259ArgfsTer16)
c.3662_3663insTA (p.Met1222ArgfsTer16)
c.3698_3699insTA (p.Met1234ArgfsTer16)
 dbSNP
17g.31233177G>ACA8486202NF1c.3717G>A (p.Ala1239=)
c.1017G>A (p.Ala339=)
c.3702G>A (p.Ala1234=)
n.398G>A
c.3672G>A (p.Ala1224=)
c.2670G>A (p.Ala890=)
c.148G>A
n.2208G>A
c.3447G>A
c.3774G>A (p.Ala1258=)
c.3663G>A (p.Ala1221=)
c.3699G>A (p.Ala1233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233177G>CCA499443847NF1c.3717G>C (p.Ala1239=)
c.1017G>C (p.Ala339=)
c.3702G>C (p.Ala1234=)
n.398G>C
c.3672G>C (p.Ala1224=)
c.2670G>C (p.Ala890=)
c.148G>C
n.2208G>C
c.3447G>C
c.3774G>C (p.Ala1258=)
c.3663G>C (p.Ala1221=)
c.3699G>C (p.Ala1233=)
 ClinVar dbSNP
17g.31233177G=CA2255570764NF1c.3717G= (p.Ala1239=)
c.1017G= (p.Ala339=)
c.3702G= (p.Ala1234=)
n.398G=
c.3672G= (p.Ala1224=)
c.2670G= (p.Ala890=)
c.148G=
n.2208G=
c.3447G=
c.3774G= (p.Ala1258=)
c.3663G= (p.Ala1221=)
c.3699G= (p.Ala1233=)
17g.31233177G>TCA499443846NF1c.3717G>T (p.Ala1239=)
c.1017G>T (p.Ala339=)
c.3702G>T (p.Ala1234=)
n.398G>T
c.3672G>T (p.Ala1224=)
c.2670G>T (p.Ala890=)
c.148G>T
n.2208G>T
c.3447G>T
c.3774G>T (p.Ala1258=)
c.3663G>T (p.Ala1221=)
c.3699G>T (p.Ala1233=)
 gnomAD v4
17g.31233178A=CA2255570769NF1c.3718A= (p.Met1240=)
c.1018A= (p.Met340=)
c.3703A= (p.Met1235=)
n.399A=
c.3673A= (p.Met1225=)
c.2671A= (p.Met891=)
c.149A=
n.2209A=
c.3448A=
c.3775A= (p.Met1259=)
c.3664A= (p.Met1222=)
c.3700A= (p.Met1234=)
17g.31233178A>CCA398990575NF1c.3718A>C (p.Met1240Leu)
c.1018A>C (p.Met340Leu)
c.3703A>C (p.Met1235Leu)
n.399A>C
c.3673A>C (p.Met1225Leu)
c.2671A>C (p.Met891Leu)
c.149A>C
n.2209A>C
c.3448A>C
c.3775A>C (p.Met1259Leu)
c.3664A>C (p.Met1222Leu)
c.3700A>C (p.Met1234Leu)
17g.31233178A>GCA8486203NF1c.3718A>G (p.Met1240Val)
c.1018A>G (p.Met340Val)
c.3703A>G (p.Met1235Val)
n.399A>G
c.3673A>G (p.Met1225Val)
c.2671A>G (p.Met891Val)
c.149A>G
n.2209A>G
c.3448A>G
c.3775A>G (p.Met1259Val)
c.3664A>G (p.Met1222Val)
c.3700A>G (p.Met1234Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233178A>TCA398990578NF1c.3718A>T (p.Met1240Leu)
c.1018A>T (p.Met340Leu)
c.3703A>T (p.Met1235Leu)
n.399A>T
c.3673A>T (p.Met1225Leu)
c.2671A>T (p.Met891Leu)
c.149A>T
n.2209A>T
c.3448A>T
c.3775A>T (p.Met1259Leu)
c.3664A>T (p.Met1222Leu)
c.3700A>T (p.Met1234Leu)
 dbSNP
17g.31233179T>ACA398990580NF1c.3719T>A (p.Met1240Lys)
c.1019T>A (p.Met340Lys)
c.3704T>A (p.Met1235Lys)
n.400T>A
c.3674T>A (p.Met1225Lys)
c.2672T>A (p.Met891Lys)
c.150T>A
n.2210T>A
c.3449T>A
c.3776T>A (p.Met1259Lys)
c.3665T>A (p.Met1222Lys)
c.3701T>A (p.Met1234Lys)
17g.31233179T>CCA398990582NF1c.3719T>C (p.Met1240Thr)
c.1019T>C (p.Met340Thr)
c.3704T>C (p.Met1235Thr)
n.400T>C
c.3674T>C (p.Met1225Thr)
c.2672T>C (p.Met891Thr)
c.150T>C
n.2210T>C
c.3449T>C
c.3776T>C (p.Met1259Thr)
c.3665T>C (p.Met1222Thr)
c.3701T>C (p.Met1234Thr)
 ClinVar
17g.31233179T>GCA398990585NF1c.3719T>G (p.Met1240Arg)
c.1019T>G (p.Met340Arg)
c.3704T>G (p.Met1235Arg)
n.400T>G
c.3674T>G (p.Met1225Arg)
c.2672T>G (p.Met891Arg)
c.150T>G
n.2210T>G
c.3449T>G
c.3776T>G (p.Met1259Arg)
c.3665T>G (p.Met1222Arg)
c.3701T>G (p.Met1234Arg)
 dbSNP
17g.31233183_31233188delCA2573153361NF1c.3723_3728del (p.Leu1242_Ala1243del)
c.1023_1028del (p.Leu342_Ala343del)
c.3708_3713del (p.Leu1237_Ala1238del)
n.404_409del
c.3678_3683del (p.Leu1227_Ala1228del)
c.2676_2681del (p.Leu893_Ala894del)
c.154_159del
n.2214_2219del
c.3453_3458del
c.3780_3785del (p.Leu1261_Ala1262del)
c.3669_3674del (p.Leu1224_Ala1225del)
c.3705_3710del (p.Leu1236_Ala1237del)
 ClinVar dbSNP
17g.31233180G>ACA398990587NF1c.3720G>A (p.Met1240Ile)
c.1020G>A (p.Met340Ile)
c.3705G>A (p.Met1235Ile)
n.401G>A
c.3675G>A (p.Met1225Ile)
c.2673G>A (p.Met891Ile)
c.151G>A
n.2211G>A
c.3450G>A
c.3777G>A (p.Met1259Ile)
c.3666G>A (p.Met1222Ile)
c.3702G>A (p.Met1234Ile)
 ClinVar dbSNP
17g.31233180G>CCA398990589NF1c.3720G>C (p.Met1240Ile)
c.1020G>C (p.Met340Ile)
c.3705G>C (p.Met1235Ile)
n.401G>C
c.3675G>C (p.Met1225Ile)
c.2673G>C (p.Met891Ile)
c.151G>C
n.2211G>C
c.3450G>C
c.3777G>C (p.Met1259Ile)
c.3666G>C (p.Met1222Ile)
c.3702G>C (p.Met1234Ile)
 dbSNP
17g.31233180G>TCA398990591NF1c.3720G>T (p.Met1240Ile)
c.1020G>T (p.Met340Ile)
c.3705G>T (p.Met1235Ile)
n.401G>T
c.3675G>T (p.Met1225Ile)
c.2673G>T (p.Met891Ile)
c.151G>T
n.2211G>T
c.3450G>T
c.3777G>T (p.Met1259Ile)
c.3666G>T (p.Met1222Ile)
c.3702G>T (p.Met1234Ile)
17g.31233181delCA2580093092NF1c.3721del (p.Ala1241LeufsTer14)
c.1021del (p.Ala341LeufsTer14)
c.3706del (p.Ala1236LeufsTer14)
n.402del
c.3676del (p.Ala1226LeufsTer14)
c.2674del (p.Ala892LeufsTer14)
c.152del
n.2212del
c.3451del
c.3778del (p.Ala1260LeufsTer14)
c.3667del (p.Ala1223LeufsTer14)
c.3703del (p.Ala1235LeufsTer14)
 ClinVar
17g.31233181G>ACA398990594NF1c.3721G>A (p.Ala1241Thr)
c.1021G>A (p.Ala341Thr)
c.3706G>A (p.Ala1236Thr)
n.402G>A
c.3676G>A (p.Ala1226Thr)
c.2674G>A (p.Ala892Thr)
c.152G>A
n.2212G>A
c.3451G>A
c.3778G>A (p.Ala1260Thr)
c.3667G>A (p.Ala1223Thr)
c.3703G>A (p.Ala1235Thr)
 dbSNP
17g.31233181G>CCA398990597NF1c.3721G>C (p.Ala1241Pro)
c.1021G>C (p.Ala341Pro)
c.3706G>C (p.Ala1236Pro)
n.402G>C
c.3676G>C (p.Ala1226Pro)
c.2674G>C (p.Ala892Pro)
c.152G>C
n.2212G>C
c.3451G>C
c.3778G>C (p.Ala1260Pro)
c.3667G>C (p.Ala1223Pro)
c.3703G>C (p.Ala1235Pro)
 dbSNP
17g.31233181G=CA2255570772NF1c.3721G= (p.Ala1241=)
c.1021G= (p.Ala341=)
c.3706G= (p.Ala1236=)
n.402G=
c.3676G= (p.Ala1226=)
c.2674G= (p.Ala892=)
c.152G=
n.2212G=
c.3451G=
c.3778G= (p.Ala1260=)
c.3667G= (p.Ala1223=)
c.3703G= (p.Ala1235=)
17g.31233181G>TCA398990598NF1c.3721G>T (p.Ala1241Ser)
c.1021G>T (p.Ala341Ser)
c.3706G>T (p.Ala1236Ser)
n.402G>T
c.3676G>T (p.Ala1226Ser)
c.2674G>T (p.Ala892Ser)
c.152G>T
n.2212G>T
c.3451G>T
c.3778G>T (p.Ala1260Ser)
c.3667G>T (p.Ala1223Ser)
c.3703G>T (p.Ala1235Ser)
 dbSNP
17g.31233182C>ACA398990601NF1c.3722C>A (p.Ala1241Asp)
c.1022C>A (p.Ala341Asp)
c.3707C>A (p.Ala1236Asp)
n.403C>A
c.3677C>A (p.Ala1226Asp)
c.2675C>A (p.Ala892Asp)
c.153C>A
n.2213C>A
c.3452C>A
c.3779C>A (p.Ala1260Asp)
c.3668C>A (p.Ala1223Asp)
c.3704C>A (p.Ala1235Asp)
 dbSNP
17g.31233182C>GCA398990604NF1c.3722C>G (p.Ala1241Gly)
c.1022C>G (p.Ala341Gly)
c.3707C>G (p.Ala1236Gly)
n.403C>G
c.3677C>G (p.Ala1226Gly)
c.2675C>G (p.Ala892Gly)
c.153C>G
n.2213C>G
c.3452C>G
c.3779C>G (p.Ala1260Gly)
c.3668C>G (p.Ala1223Gly)
c.3704C>G (p.Ala1235Gly)
 dbSNP
17g.31233182C>TCA398990603NF1c.3722C>T (p.Ala1241Val)
c.1022C>T (p.Ala341Val)
c.3707C>T (p.Ala1236Val)
n.403C>T
c.3677C>T (p.Ala1226Val)
c.2675C>T (p.Ala892Val)
c.153C>T
n.2213C>T
c.3452C>T
c.3779C>T (p.Ala1260Val)
c.3668C>T (p.Ala1223Val)
c.3704C>T (p.Ala1235Val)
 dbSNP
17g.31233182dupCA658824757NF1c.3722dup (p.Leu1242SerfsTer12)
c.1022dup (p.Leu342SerfsTer12)
c.3707dup (p.Leu1237SerfsTer12)
n.403dup
c.3677dup (p.Leu1227SerfsTer12)
c.2675dup (p.Leu893SerfsTer12)
c.153dup
n.2213dup
c.3452dup
c.3779dup (p.Leu1261SerfsTer12)
c.3668dup (p.Leu1224SerfsTer12)
c.3704dup (p.Leu1236SerfsTer12)
 ClinVar dbSNP
17g.31233183T>ACA499443854NF1c.3723T>A (p.Ala1241=)
c.1023T>A (p.Ala341=)
c.3708T>A (p.Ala1236=)
n.404T>A
c.3678T>A (p.Ala1226=)
c.2676T>A (p.Ala892=)
c.154T>A
n.2214T>A
c.3453T>A
c.3780T>A (p.Ala1260=)
c.3669T>A (p.Ala1223=)
c.3705T>A (p.Ala1235=)
 dbSNP
17g.31233183T>CCA8486204NF1c.3723T>C (p.Ala1241=)
c.1023T>C (p.Ala341=)
c.3708T>C (p.Ala1236=)
n.404T>C
c.3678T>C (p.Ala1226=)
c.2676T>C (p.Ala892=)
c.154T>C
n.2214T>C
c.3453T>C
c.3780T>C (p.Ala1260=)
c.3669T>C (p.Ala1223=)
c.3705T>C (p.Ala1235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233183T>GCA499443856NF1c.3723T>G (p.Ala1241=)
c.1023T>G (p.Ala341=)
c.3708T>G (p.Ala1236=)
n.404T>G
c.3678T>G (p.Ala1226=)
c.2676T>G (p.Ala892=)
c.154T>G
n.2214T>G
c.3453T>G
c.3780T>G (p.Ala1260=)
c.3669T>G (p.Ala1223=)
c.3705T>G (p.Ala1235=)
17g.31233183T=CA2255570782NF1c.3723T= (p.Ala1241=)
c.1023T= (p.Ala341=)
c.3708T= (p.Ala1236=)
n.404T=
c.3678T= (p.Ala1226=)
c.2676T= (p.Ala892=)
c.154T=
n.2214T=
c.3453T=
c.3780T= (p.Ala1260=)
c.3669T= (p.Ala1223=)
c.3705T= (p.Ala1235=)
17g.31233184C>ACA398990607NF1c.3724C>A (p.Leu1242Met)
c.1024C>A (p.Leu342Met)
c.3709C>A (p.Leu1237Met)
n.405C>A
c.3679C>A (p.Leu1227Met)
c.2677C>A (p.Leu893Met)
c.155C>A
n.2215C>A
c.3454C>A
c.3781C>A (p.Leu1261Met)
c.3670C>A (p.Leu1224Met)
c.3706C>A (p.Leu1236Met)
 dbSNP
17g.31233184C=CA2255570786NF1c.3724C= (p.Leu1242=)
c.1024C= (p.Leu342=)
c.3709C= (p.Leu1237=)
n.405C=
c.3679C= (p.Leu1227=)
c.2677C= (p.Leu893=)
c.155C=
n.2215C=
c.3454C=
c.3781C= (p.Leu1261=)
c.3670C= (p.Leu1224=)
c.3706C= (p.Leu1236=)
17g.31233184C>GCA398990610NF1c.3724C>G (p.Leu1242Val)
c.1024C>G (p.Leu342Val)
c.3709C>G (p.Leu1237Val)
n.405C>G
c.3679C>G (p.Leu1227Val)
c.2677C>G (p.Leu893Val)
c.155C>G
n.2215C>G
c.3454C>G
c.3781C>G (p.Leu1261Val)
c.3670C>G (p.Leu1224Val)
c.3706C>G (p.Leu1236Val)
 ClinVar dbSNP
17g.31233184C>TCA10580290NF1c.3724C>T (p.Leu1242=)
c.1024C>T (p.Leu342=)
c.3709C>T (p.Leu1237=)
n.405C>T
c.3679C>T (p.Leu1227=)
c.2677C>T (p.Leu893=)
c.155C>T
n.2215C>T
c.3454C>T
c.3781C>T (p.Leu1261=)
c.3670C>T (p.Leu1224=)
c.3706C>T (p.Leu1236=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31233185T>ACA398990613NF1c.3725T>A (p.Leu1242Gln)
c.1025T>A (p.Leu342Gln)
c.3710T>A (p.Leu1237Gln)
n.406T>A
c.3680T>A (p.Leu1227Gln)
c.2678T>A (p.Leu893Gln)
c.156T>A
n.2216T>A
c.3455T>A
c.3782T>A (p.Leu1261Gln)
c.3671T>A (p.Leu1224Gln)
c.3707T>A (p.Leu1236Gln)
17g.31233185T>CCA398990615NF1c.3725T>C (p.Leu1242Pro)
c.1025T>C (p.Leu342Pro)
c.3710T>C (p.Leu1237Pro)
n.406T>C
c.3680T>C (p.Leu1227Pro)
c.2678T>C (p.Leu893Pro)
c.156T>C
n.2216T>C
c.3455T>C
c.3782T>C (p.Leu1261Pro)
c.3671T>C (p.Leu1224Pro)
c.3707T>C (p.Leu1236Pro)
17g.31233185T>GCA398990618NF1c.3725T>G (p.Leu1242Arg)
c.1025T>G (p.Leu342Arg)
c.3710T>G (p.Leu1237Arg)
n.406T>G
c.3680T>G (p.Leu1227Arg)
c.2678T>G (p.Leu893Arg)
c.156T>G
n.2216T>G
c.3455T>G
c.3782T>G (p.Leu1261Arg)
c.3671T>G (p.Leu1224Arg)
c.3707T>G (p.Leu1236Arg)
 gnomAD v4
17g.31233186G>ACA499443860NF1c.3726G>A (p.Leu1242=)
c.1026G>A (p.Leu342=)
c.3711G>A (p.Leu1237=)
n.407G>A
c.3681G>A (p.Leu1227=)
c.2679G>A (p.Leu893=)
c.157G>A
n.2217G>A
c.3456G>A
c.3783G>A (p.Leu1261=)
c.3672G>A (p.Leu1224=)
c.3708G>A (p.Leu1236=)
 dbSNP
17g.31233186G>CCA499443861NF1c.3726G>C (p.Leu1242=)
c.1026G>C (p.Leu342=)
c.3711G>C (p.Leu1237=)
n.407G>C
c.3681G>C (p.Leu1227=)
c.2679G>C (p.Leu893=)
c.157G>C
n.2217G>C
c.3456G>C
c.3783G>C (p.Leu1261=)
c.3672G>C (p.Leu1224=)
c.3708G>C (p.Leu1236=)
 dbSNP
17g.31233186G>TCA499443862NF1c.3726G>T (p.Leu1242=)
c.1026G>T (p.Leu342=)
c.3711G>T (p.Leu1237=)
n.407G>T
c.3681G>T (p.Leu1227=)
c.2679G>T (p.Leu893=)
c.157G>T
n.2217G>T
c.3456G>T
c.3783G>T (p.Leu1261=)
c.3672G>T (p.Leu1224=)
c.3708G>T (p.Leu1236=)
 dbSNP
17g.31233187delCA2580093093NF1c.3727del (p.Ala1243ProfsTer12)
c.1027del (p.Ala343ProfsTer12)
c.3712del (p.Ala1238ProfsTer12)
n.408del
c.3682del (p.Ala1228ProfsTer12)
c.2680del (p.Ala894ProfsTer12)
c.158del
n.2218del
c.3457del
c.3784del (p.Ala1262ProfsTer12)
c.3673del (p.Ala1225ProfsTer12)
c.3709del (p.Ala1237ProfsTer12)
 ClinVar
17g.31233187G>ACA398990621NF1c.3727G>A (p.Ala1243Thr)
c.1027G>A (p.Ala343Thr)
c.3712G>A (p.Ala1238Thr)
n.408G>A
c.3682G>A (p.Ala1228Thr)
c.2680G>A (p.Ala894Thr)
c.158G>A
n.2218G>A
c.3457G>A
c.3784G>A (p.Ala1262Thr)
c.3673G>A (p.Ala1225Thr)
c.3709G>A (p.Ala1237Thr)
 dbSNP
17g.31233187G>CCA398990623NF1c.3727G>C (p.Ala1243Pro)
c.1027G>C (p.Ala343Pro)
c.3712G>C (p.Ala1238Pro)
n.408G>C
c.3682G>C (p.Ala1228Pro)
c.2680G>C (p.Ala894Pro)
c.158G>C
n.2218G>C
c.3457G>C
c.3784G>C (p.Ala1262Pro)
c.3673G>C (p.Ala1225Pro)
c.3709G>C (p.Ala1237Pro)
 dbSNP
17g.31233187G>TCA398990625NF1c.3727G>T (p.Ala1243Ser)
c.1027G>T (p.Ala343Ser)
c.3712G>T (p.Ala1238Ser)
n.408G>T
c.3682G>T (p.Ala1228Ser)
c.2680G>T (p.Ala894Ser)
c.158G>T
n.2218G>T
c.3457G>T
c.3784G>T (p.Ala1262Ser)
c.3673G>T (p.Ala1225Ser)
c.3709G>T (p.Ala1237Ser)
 dbSNP
17g.31233188C>ACA398990631NF1c.3728C>A (p.Ala1243Asp)
c.1028C>A (p.Ala343Asp)
c.3713C>A (p.Ala1238Asp)
n.409C>A
c.3683C>A (p.Ala1228Asp)
c.2681C>A (p.Ala894Asp)
c.159C>A
n.2219C>A
c.3458C>A
c.3785C>A (p.Ala1262Asp)
c.3674C>A (p.Ala1225Asp)
c.3710C>A (p.Ala1237Asp)
 dbSNP
17g.31233188C=CA2255570790NF1c.3728C= (p.Ala1243=)
c.1028C= (p.Ala343=)
c.3713C= (p.Ala1238=)
n.409C=
c.3683C= (p.Ala1228=)
c.2681C= (p.Ala894=)
c.159C=
n.2219C=
c.3458C=
c.3785C= (p.Ala1262=)
c.3674C= (p.Ala1225=)
c.3710C= (p.Ala1237=)
17g.31233188C>GCA398990628NF1c.3728C>G (p.Ala1243Gly)
c.1028C>G (p.Ala343Gly)
c.3713C>G (p.Ala1238Gly)
n.409C>G
c.3683C>G (p.Ala1228Gly)
c.2681C>G (p.Ala894Gly)
c.159C>G
n.2219C>G
c.3458C>G
c.3785C>G (p.Ala1262Gly)
c.3674C>G (p.Ala1225Gly)
c.3710C>G (p.Ala1237Gly)
 dbSNP
17g.31233188C>TCA16615230NF1c.3728C>T (p.Ala1243Val)
c.1028C>T (p.Ala343Val)
c.3713C>T (p.Ala1238Val)
n.409C>T
c.3683C>T (p.Ala1228Val)
c.2681C>T (p.Ala894Val)
c.159C>T
n.2219C>T
c.3458C>T
c.3785C>T (p.Ala1262Val)
c.3674C>T (p.Ala1225Val)
c.3710C>T (p.Ala1237Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31233189delCA2695224917NF1c.3729del (p.Asn1244MetfsTer11)
c.1029del (p.Asn344MetfsTer11)
c.3714del (p.Asn1239MetfsTer11)
n.410del
c.3684del (p.Asn1229MetfsTer11)
c.2682del (p.Asn895MetfsTer11)
c.160del
n.2220del
c.3459del
c.3786del (p.Asn1263MetfsTer11)
c.3675del (p.Asn1226MetfsTer11)
c.3711del (p.Asn1238MetfsTer11)
17g.31233189C>ACA499443866NF1c.3729C>A (p.Ala1243=)
c.1029C>A (p.Ala343=)
c.3714C>A (p.Ala1238=)
n.410C>A
c.3684C>A (p.Ala1228=)
c.2682C>A (p.Ala894=)
c.160C>A
n.2220C>A
c.3459C>A
c.3786C>A (p.Ala1262=)
c.3675C>A (p.Ala1225=)
c.3711C>A (p.Ala1237=)
 dbSNP
17g.31233189C=CA2255570798NF1c.3729C= (p.Ala1243=)
c.1029C= (p.Ala343=)
c.3714C= (p.Ala1238=)
n.410C=
c.3684C= (p.Ala1228=)
c.2682C= (p.Ala894=)
c.160C=
n.2220C=
c.3459C=
c.3786C= (p.Ala1262=)
c.3675C= (p.Ala1225=)
c.3711C= (p.Ala1237=)
17g.31233189C>GCA499443868NF1c.3729C>G (p.Ala1243=)
c.1029C>G (p.Ala343=)
c.3714C>G (p.Ala1238=)
n.410C>G
c.3684C>G (p.Ala1228=)
c.2682C>G (p.Ala894=)
c.160C>G
n.2220C>G
c.3459C>G
c.3786C>G (p.Ala1262=)
c.3675C>G (p.Ala1225=)
c.3711C>G (p.Ala1237=)
 dbSNP
17g.31233189C>TCA8486205NF1c.3729C>T (p.Ala1243=)
c.1029C>T (p.Ala343=)
c.3714C>T (p.Ala1238=)
n.410C>T
c.3684C>T (p.Ala1228=)
c.2682C>T (p.Ala894=)
c.160C>T
n.2220C>T
c.3459C>T
c.3786C>T (p.Ala1262=)
c.3675C>T (p.Ala1225=)
c.3711C>T (p.Ala1237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233189_31233190delinsCACA2255570796NF1c.3729_3730delinsCA (p.Ala1243=)
c.1029_1030delinsCA (p.Ala343=)
c.3714_3715delinsCA (p.Ala1238=)
n.410_411delinsCA
c.3684_3685delinsCA (p.Ala1228=)
c.2682_2683delinsCA (p.Ala894=)
c.160_161delinsCA
n.2220_2221delinsCA
c.3459_3460delinsCA
c.3786_3787delinsCA (p.Ala1262=)
c.3675_3676delinsCA (p.Ala1225=)
c.3711_3712delinsCA (p.Ala1237=)
17g.31233190A=CA2255570807NF1c.3730A= (p.Asn1244=)
c.1030A= (p.Asn344=)
c.3715A= (p.Asn1239=)
n.411A=
c.3685A= (p.Asn1229=)
c.2683A= (p.Asn895=)
c.161A=
n.2221A=
c.3460A=
c.3787A= (p.Asn1263=)
c.3676A= (p.Asn1226=)
c.3712A= (p.Asn1238=)
17g.31233190A>CCA398990639NF1c.3730A>C (p.Asn1244His)
c.1030A>C (p.Asn344His)
c.3715A>C (p.Asn1239His)
n.411A>C
c.3685A>C (p.Asn1229His)
c.2683A>C (p.Asn895His)
c.161A>C
n.2221A>C
c.3460A>C
c.3787A>C (p.Asn1263His)
c.3676A>C (p.Asn1226His)
c.3712A>C (p.Asn1238His)
17g.31233190A>GCA398990641NF1c.3730A>G (p.Asn1244Asp)
c.1030A>G (p.Asn344Asp)
c.3715A>G (p.Asn1239Asp)
n.411A>G
c.3685A>G (p.Asn1229Asp)
c.2683A>G (p.Asn895Asp)
c.161A>G
n.2221A>G
c.3460A>G
c.3787A>G (p.Asn1263Asp)
c.3676A>G (p.Asn1226Asp)
c.3712A>G (p.Asn1238Asp)
 ClinVar dbSNP
17g.31233190A>TCA398990644NF1c.3730A>T (p.Asn1244Tyr)
c.1030A>T (p.Asn344Tyr)
c.3715A>T (p.Asn1239Tyr)
n.411A>T
c.3685A>T (p.Asn1229Tyr)
c.2683A>T (p.Asn895Tyr)
c.161A>T
n.2221A>T
c.3460A>T
c.3787A>T (p.Asn1263Tyr)
c.3676A>T (p.Asn1226Tyr)
c.3712A>T (p.Asn1238Tyr)
 ClinVar dbSNP
17g.31233191delCA658824758NF1c.3731del (p.Asn1244MetfsTer11)
c.1031del (p.Asn344MetfsTer11)
c.3716del (p.Asn1239MetfsTer11)
n.412del
c.3686del (p.Asn1229MetfsTer11)
c.2684del (p.Asn895MetfsTer11)
c.162del
n.2222del
c.3461del
c.3788del (p.Asn1263MetfsTer11)
c.3677del (p.Asn1226MetfsTer11)
c.3713del (p.Asn1238MetfsTer11)
 ClinVar dbSNP
17g.31233191A=CA2255570813NF1c.3731A= (p.Asn1244=)
c.1031A= (p.Asn344=)
c.3716A= (p.Asn1239=)
n.412A=
c.3686A= (p.Asn1229=)
c.2684A= (p.Asn895=)
c.162A=
n.2222A=
c.3461A=
c.3788A= (p.Asn1263=)
c.3677A= (p.Asn1226=)
c.3713A= (p.Asn1238=)
17g.31233191A>CCA398990647NF1c.3731A>C (p.Asn1244Thr)
c.1031A>C (p.Asn344Thr)
c.3716A>C (p.Asn1239Thr)
n.412A>C
c.3686A>C (p.Asn1229Thr)
c.2684A>C (p.Asn895Thr)
c.162A>C
n.2222A>C
c.3461A>C
c.3788A>C (p.Asn1263Thr)
c.3677A>C (p.Asn1226Thr)
c.3713A>C (p.Asn1238Thr)
 ClinVar dbSNP
17g.31233191A>GCA191008NF1c.3731A>G (p.Asn1244Ser)
c.1031A>G (p.Asn344Ser)
c.3716A>G (p.Asn1239Ser)
n.412A>G
c.3686A>G (p.Asn1229Ser)
c.2684A>G (p.Asn895Ser)
c.162A>G
n.2222A>G
c.3461A>G
c.3788A>G (p.Asn1263Ser)
c.3677A>G (p.Asn1226Ser)
c.3713A>G (p.Asn1238Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233191A>TCA398990651NF1c.3731A>T (p.Asn1244Ile)
c.1031A>T (p.Asn344Ile)
c.3716A>T (p.Asn1239Ile)
n.412A>T
c.3686A>T (p.Asn1229Ile)
c.2684A>T (p.Asn895Ile)
c.162A>T
n.2222A>T
c.3461A>T
c.3788A>T (p.Asn1263Ile)
c.3677A>T (p.Asn1226Ile)
c.3713A>T (p.Asn1238Ile)
 dbSNP
17g.31233191_31233195delCA2695201288NF1c.3731_3735del (p.Asn1244SerfsTer8)
c.1031_1035del (p.Asn344SerfsTer8)
c.3716_3720del (p.Asn1239SerfsTer8)
n.412_416del
c.3686_3690del (p.Asn1229SerfsTer8)
c.2684_2688del (p.Asn895SerfsTer8)
c.162_166del
n.2222_2226del
c.3461_3465del
c.3788_3792del (p.Asn1263SerfsTer8)
c.3677_3681del (p.Asn1226SerfsTer8)
c.3713_3717del (p.Asn1238SerfsTer8)
 ClinVar
17g.31233192delCA2739267380NF1c.3732del (p.Asn1244LysfsTer11)
c.1032del (p.Asn344LysfsTer11)
c.3717del (p.Asn1239LysfsTer11)
n.413del
c.3687del (p.Asn1229LysfsTer11)
c.2685del (p.Asn895LysfsTer11)
c.163del
n.2223del
c.3462del
c.3789del (p.Asn1263LysfsTer11)
c.3678del (p.Asn1226LysfsTer11)
c.3714del (p.Asn1238LysfsTer11)
 ClinVar
17g.31233192T>ACA398990652NF1c.3732T>A (p.Asn1244Lys)
c.1032T>A (p.Asn344Lys)
c.3717T>A (p.Asn1239Lys)
n.413T>A
c.3687T>A (p.Asn1229Lys)
c.2685T>A (p.Asn895Lys)
c.163T>A
n.2223T>A
c.3462T>A
c.3789T>A (p.Asn1263Lys)
c.3678T>A (p.Asn1226Lys)
c.3714T>A (p.Asn1238Lys)
 dbSNP
17g.31233192T>CCA8486206NF1c.3732T>C (p.Asn1244=)
c.1032T>C (p.Asn344=)
c.3717T>C (p.Asn1239=)
n.413T>C
c.3687T>C (p.Asn1229=)
c.2685T>C (p.Asn895=)
c.163T>C
n.2223T>C
c.3462T>C
c.3789T>C (p.Asn1263=)
c.3678T>C (p.Asn1226=)
c.3714T>C (p.Asn1238=)
 ClinVar dbSNP ExAC gnomAD v4
17g.31233192T>GCA398990655NF1c.3732T>G (p.Asn1244Lys)
c.1032T>G (p.Asn344Lys)
c.3717T>G (p.Asn1239Lys)
n.413T>G
c.3687T>G (p.Asn1229Lys)
c.2685T>G (p.Asn895Lys)
c.163T>G
n.2223T>G
c.3462T>G
c.3789T>G (p.Asn1263Lys)
c.3678T>G (p.Asn1226Lys)
c.3714T>G (p.Asn1238Lys)
17g.31233192T=CA2255570816NF1c.3732T= (p.Asn1244=)
c.1032T= (p.Asn344=)
c.3717T= (p.Asn1239=)
n.413T=
c.3687T= (p.Asn1229=)
c.2685T= (p.Asn895=)
c.163T=
n.2223T=
c.3462T=
c.3789T= (p.Asn1263=)
c.3678T= (p.Asn1226=)
c.3714T= (p.Asn1238=)
17g.31233195_31233204delCA2576223449NF1c.3735_3744del (p.Val1246LeufsTer6)
c.1035_1044del (p.Val346LeufsTer6)
c.3720_3729del (p.Val1241LeufsTer6)
n.416_425del
c.3690_3699del (p.Val1231LeufsTer6)
c.2688_2697del (p.Val897LeufsTer6)
c.166_175del
n.2226_2235del
c.3465_3474del
c.3792_3801del (p.Val1265LeufsTer6)
c.3681_3690del (p.Val1228LeufsTer6)
c.3717_3726del (p.Val1240LeufsTer6)
17g.31233192_31233209delinsTGTGGTTCCTTGTTCTCACA2255570818NF1c.3732_3749delinsTGTGGTTCCTTGTTCTCA (p.Asn1244=)
c.1032_1049delinsTGTGGTTCCTTGTTCTCA (p.Asn344=)
c.3717_3734delinsTGTGGTTCCTTGTTCTCA (p.Asn1239=)
n.413_430delinsTGTGGTTCCTTGTTCTCA
c.3687_3704delinsTGTGGTTCCTTGTTCTCA (p.Asn1229=)
c.2685_2702delinsTGTGGTTCCTTGTTCTCA (p.Asn895=)
c.163_180delinsTGTGGTTCCTTGTTCTCA
n.2223_2240delinsTGTGGTTCCTTGTTCTCA
c.3462_3479delinsTGTGGTTCCTTGTTCTCA
c.3789_3806delinsTGTGGTTCCTTGTTCTCA (p.Asn1263=)
c.3678_3695delinsTGTGGTTCCTTGTTCTCA (p.Asn1226=)
c.3714_3731delinsTGTGGTTCCTTGTTCTCA (p.Asn1238=)
17g.31233193G>ACA398990659NF1c.3733G>A (p.Val1245Met)
c.1033G>A (p.Val345Met)
c.3718G>A (p.Val1240Met)
n.414G>A
c.3688G>A (p.Val1230Met)
c.2686G>A (p.Val896Met)
c.164G>A
n.2224G>A
c.3463G>A
c.3790G>A (p.Val1264Met)
c.3679G>A (p.Val1227Met)
c.3715G>A (p.Val1239Met)
 dbSNP gnomAD v4
17g.31233193G>CCA398990661NF1c.3733G>C (p.Val1245Leu)
c.1033G>C (p.Val345Leu)
c.3718G>C (p.Val1240Leu)
n.414G>C
c.3688G>C (p.Val1230Leu)
c.2686G>C (p.Val896Leu)
c.164G>C
n.2224G>C
c.3463G>C
c.3790G>C (p.Val1264Leu)
c.3679G>C (p.Val1227Leu)
c.3715G>C (p.Val1239Leu)
 dbSNP
17g.31233193G>TCA398990662NF1c.3733G>T (p.Val1245Leu)
c.1033G>T (p.Val345Leu)
c.3718G>T (p.Val1240Leu)
n.414G>T
c.3688G>T (p.Val1230Leu)
c.2686G>T (p.Val896Leu)
c.164G>T
n.2224G>T
c.3463G>T
c.3790G>T (p.Val1264Leu)
c.3679G>T (p.Val1227Leu)
c.3715G>T (p.Val1239Leu)
17g.31233194_31233195insTCTCAGTCA2573153362NF1c.3734_3735insTCTCAGT (p.Val1246LeufsTer10)
c.1034_1035insTCTCAGT (p.Val346LeufsTer10)
c.3719_3720insTCTCAGT (p.Val1241LeufsTer10)
n.415_416insTCTCAGT
c.3689_3690insTCTCAGT (p.Val1231LeufsTer10)
c.2687_2688insTCTCAGT (p.Val897LeufsTer10)
c.165_166insTCTCAGT
n.2225_2226insTCTCAGT
c.3464_3465insTCTCAGT
c.3791_3792insTCTCAGT (p.Val1265LeufsTer10)
c.3680_3681insTCTCAGT (p.Val1228LeufsTer10)
c.3716_3717insTCTCAGT (p.Val1240LeufsTer10)
 dbSNP
17g.31233197_31233213delCA645373118NF1c.3737_3753del (p.Val1246GlyfsTer2)
c.1037_1053del (p.Val346GlyfsTer2)
c.3722_3738del (p.Val1241GlyfsTer2)
n.418_434del
c.3692_3708del (p.Val1231GlyfsTer2)
c.2690_2706del (p.Val897GlyfsTer2)
c.168_184del
n.2228_2244del
c.3467_3483del
c.3794_3810del (p.Val1265GlyfsTer2)
c.3683_3699del (p.Val1228GlyfsTer2)
c.3719_3735del (p.Val1240GlyfsTer2)
 ClinVar dbSNP
17g.31233194delCA1139768275NF1c.3734del (p.Val1245GlyfsTer10)
c.1034del (p.Val345GlyfsTer10)
c.3719del (p.Val1240GlyfsTer10)
n.415del
c.3689del (p.Val1230GlyfsTer10)
c.2687del (p.Val896GlyfsTer10)
c.165del
n.2225del
c.3464del
c.3791del (p.Val1264GlyfsTer10)
c.3680del (p.Val1227GlyfsTer10)
c.3716del (p.Val1239GlyfsTer10)
17g.31233194T>ACA398990666NF1c.3734T>A (p.Val1245Glu)
c.1034T>A (p.Val345Glu)
c.3719T>A (p.Val1240Glu)
n.415T>A
c.3689T>A (p.Val1230Glu)
c.2687T>A (p.Val896Glu)
c.165T>A
n.2225T>A
c.3464T>A
c.3791T>A (p.Val1264Glu)
c.3680T>A (p.Val1227Glu)
c.3716T>A (p.Val1239Glu)
 dbSNP
17g.31233194T>CCA169771NF1c.3734T>C (p.Val1245Ala)
c.1034T>C (p.Val345Ala)
c.3719T>C (p.Val1240Ala)
n.415T>C
c.3689T>C (p.Val1230Ala)
c.2687T>C (p.Val896Ala)
c.165T>C
n.2225T>C
c.3464T>C
c.3791T>C (p.Val1264Ala)
c.3680T>C (p.Val1227Ala)
c.3716T>C (p.Val1239Ala)
 ClinVar dbSNP
17g.31233194T>GCA398990664NF1c.3734T>G (p.Val1245Gly)
c.1034T>G (p.Val345Gly)
c.3719T>G (p.Val1240Gly)
n.415T>G
c.3689T>G (p.Val1230Gly)
c.2687T>G (p.Val896Gly)
c.165T>G
n.2225T>G
c.3464T>G
c.3791T>G (p.Val1264Gly)
c.3680T>G (p.Val1227Gly)
c.3716T>G (p.Val1239Gly)
17g.31233194T=CA2255570825NF1c.3734T= (p.Val1245=)
c.1034T= (p.Val345=)
c.3719T= (p.Val1240=)
n.415T=
c.3689T= (p.Val1230=)
c.2687T= (p.Val896=)
c.165T=
n.2225T=
c.3464T=
c.3791T= (p.Val1264=)
c.3680T= (p.Val1227=)
c.3716T= (p.Val1239=)
17g.31233195G>ACA194631NF1c.3735G>A (p.Val1245=)
c.1035G>A (p.Val345=)
c.3720G>A (p.Val1240=)
n.416G>A
c.3690G>A (p.Val1230=)
c.2688G>A (p.Val896=)
c.166G>A
n.2226G>A
c.3465G>A
c.3792G>A (p.Val1264=)
c.3681G>A (p.Val1227=)
c.3717G>A (p.Val1239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233195G>CCA499443875NF1c.3735G>C (p.Val1245=)
c.1035G>C (p.Val345=)
c.3720G>C (p.Val1240=)
n.416G>C
c.3690G>C (p.Val1230=)
c.2688G>C (p.Val896=)
c.166G>C
n.2226G>C
c.3465G>C
c.3792G>C (p.Val1264=)
c.3681G>C (p.Val1227=)
c.3717G>C (p.Val1239=)
 dbSNP
17g.31233195G=CA2255570831NF1c.3735G= (p.Val1245=)
c.1035G= (p.Val345=)
c.3720G= (p.Val1240=)
n.416G=
c.3690G= (p.Val1230=)
c.2688G= (p.Val896=)
c.166G=
n.2226G=
c.3465G=
c.3792G= (p.Val1264=)
c.3681G= (p.Val1227=)
c.3717G= (p.Val1239=)
17g.31233195G>TCA8486207NF1c.3735G>T (p.Val1245=)
c.1035G>T (p.Val345=)
c.3720G>T (p.Val1240=)
n.416G>T
c.3690G>T (p.Val1230=)
c.2688G>T (p.Val896=)
c.166G>T
n.2226G>T
c.3465G>T
c.3792G>T (p.Val1264=)
c.3681G>T (p.Val1227=)
c.3717G>T (p.Val1239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233196G>ACA398990673NF1c.3736G>A (p.Val1246Ile)
c.1036G>A (p.Val346Ile)
c.3721G>A (p.Val1241Ile)
n.417G>A
c.3691G>A (p.Val1231Ile)
c.2689G>A (p.Val897Ile)
c.167G>A
n.2227G>A
c.3466G>A
c.3793G>A (p.Val1265Ile)
c.3682G>A (p.Val1228Ile)
c.3718G>A (p.Val1240Ile)
 ClinVar dbSNP
17g.31233196G>CCA398990675NF1c.3736G>C (p.Val1246Leu)
c.1036G>C (p.Val346Leu)
c.3721G>C (p.Val1241Leu)
n.417G>C
c.3691G>C (p.Val1231Leu)
c.2689G>C (p.Val897Leu)
c.167G>C
n.2227G>C
c.3466G>C
c.3793G>C (p.Val1265Leu)
c.3682G>C (p.Val1228Leu)
c.3718G>C (p.Val1240Leu)
 ClinVar dbSNP
17g.31233196G=CA2255570834NF1c.3736G= (p.Val1246=)
c.1036G= (p.Val346=)
c.3721G= (p.Val1241=)
n.417G=
c.3691G= (p.Val1231=)
c.2689G= (p.Val897=)
c.167G=
n.2227G=
c.3466G=
c.3793G= (p.Val1265=)
c.3682G= (p.Val1228=)
c.3718G= (p.Val1240=)
17g.31233196G>TCA398990678NF1c.3736G>T (p.Val1246Phe)
c.1036G>T (p.Val346Phe)
c.3721G>T (p.Val1241Phe)
n.417G>T
c.3691G>T (p.Val1231Phe)
c.2689G>T (p.Val897Phe)
c.167G>T
n.2227G>T
c.3466G>T
c.3793G>T (p.Val1265Phe)
c.3682G>T (p.Val1228Phe)
c.3718G>T (p.Val1240Phe)
 ClinVar dbSNP
17g.31233197T>ACA398990685NF1c.3737T>A (p.Val1246Asp)
c.1037T>A (p.Val346Asp)
c.3722T>A (p.Val1241Asp)
n.418T>A
c.3692T>A (p.Val1231Asp)
c.2690T>A (p.Val897Asp)
c.168T>A
n.2228T>A
c.3467T>A
c.3794T>A (p.Val1265Asp)
c.3683T>A (p.Val1228Asp)
c.3719T>A (p.Val1240Asp)
 dbSNP
17g.31233197T>CCA398990681NF1c.3737T>C (p.Val1246Ala)
c.1037T>C (p.Val346Ala)
c.3722T>C (p.Val1241Ala)
n.418T>C
c.3692T>C (p.Val1231Ala)
c.2690T>C (p.Val897Ala)
c.168T>C
n.2228T>C
c.3467T>C
c.3794T>C (p.Val1265Ala)
c.3683T>C (p.Val1228Ala)
c.3719T>C (p.Val1240Ala)
 dbSNP
17g.31233197T>GCA398990683NF1c.3737T>G (p.Val1246Gly)
c.1037T>G (p.Val346Gly)
c.3722T>G (p.Val1241Gly)
n.418T>G
c.3692T>G (p.Val1231Gly)
c.2690T>G (p.Val897Gly)
c.168T>G
n.2228T>G
c.3467T>G
c.3794T>G (p.Val1265Gly)
c.3683T>G (p.Val1228Gly)
c.3719T>G (p.Val1240Gly)
17g.31233198delCA2580614087NF1c.3738del (p.Pro1247LeufsTer8)
c.1038del (p.Pro347LeufsTer8)
c.3723del (p.Pro1242LeufsTer8)
n.419del
c.3693del (p.Pro1232LeufsTer8)
c.2691del (p.Pro898LeufsTer8)
c.169del
n.2229del
c.3468del
c.3795del (p.Pro1266LeufsTer8)
c.3684del (p.Pro1229LeufsTer8)
c.3720del (p.Pro1241LeufsTer8)
 ClinVar
17g.31233198T>ACA499443877NF1c.3738T>A (p.Val1246=)
c.1038T>A (p.Val346=)
c.3723T>A (p.Val1241=)
n.419T>A
c.3693T>A (p.Val1231=)
c.2691T>A (p.Val897=)
c.169T>A
n.2229T>A
c.3468T>A
c.3795T>A (p.Val1265=)
c.3684T>A (p.Val1228=)
c.3720T>A (p.Val1240=)
 dbSNP
17g.31233198T>CCA499443879NF1c.3738T>C (p.Val1246=)
c.1038T>C (p.Val346=)
c.3723T>C (p.Val1241=)
n.419T>C
c.3693T>C (p.Val1231=)
c.2691T>C (p.Val897=)
c.169T>C
n.2229T>C
c.3468T>C
c.3795T>C (p.Val1265=)
c.3684T>C (p.Val1228=)
c.3720T>C (p.Val1240=)
17g.31233198T>GCA499443878NF1c.3738T>G (p.Val1246=)
c.1038T>G (p.Val346=)
c.3723T>G (p.Val1241=)
n.419T>G
c.3693T>G (p.Val1231=)
c.2691T>G (p.Val897=)
c.169T>G
n.2229T>G
c.3468T>G
c.3795T>G (p.Val1265=)
c.3684T>G (p.Val1228=)
c.3720T>G (p.Val1240=)
17g.31233198_31233199delinsTCCA2255570836NF1c.3738_3739delinsTC (p.Val1246=)
c.1038_1039delinsTC (p.Val346=)
c.3723_3724delinsTC (p.Val1241=)
n.419_420delinsTC
c.3693_3694delinsTC (p.Val1231=)
c.2691_2692delinsTC (p.Val897=)
c.169_170delinsTC
n.2229_2230delinsTC
c.3468_3469delinsTC
c.3795_3796delinsTC (p.Val1265=)
c.3684_3685delinsTC (p.Val1228=)
c.3720_3721delinsTC (p.Val1240=)
17g.31233199C>ACA398990688NF1c.3739C>A (p.Pro1247Thr)
c.1039C>A (p.Pro347Thr)
c.3724C>A (p.Pro1242Thr)
n.420C>A
c.3694C>A (p.Pro1232Thr)
c.2692C>A (p.Pro898Thr)
c.170C>A
n.2230C>A
c.3469C>A
c.3796C>A (p.Pro1266Thr)
c.3685C>A (p.Pro1229Thr)
c.3721C>A (p.Pro1241Thr)
17g.31233199C=CA2255570840NF1c.3739C= (p.Pro1247=)
c.1039C= (p.Pro347=)
c.3724C= (p.Pro1242=)
n.420C=
c.3694C= (p.Pro1232=)
c.2692C= (p.Pro898=)
c.170C=
n.2230C=
c.3469C=
c.3796C= (p.Pro1266=)
c.3685C= (p.Pro1229=)
c.3721C= (p.Pro1241=)
17g.31233199C>GCA398990690NF1c.3739C>G (p.Pro1247Ala)
c.1039C>G (p.Pro347Ala)
c.3724C>G (p.Pro1242Ala)
n.420C>G
c.3694C>G (p.Pro1232Ala)
c.2692C>G (p.Pro898Ala)
c.170C>G
n.2230C>G
c.3469C>G
c.3796C>G (p.Pro1266Ala)
c.3685C>G (p.Pro1229Ala)
c.3721C>G (p.Pro1241Ala)
 dbSNP COSMIC COSMIC
17g.31233199C>TCA398990692NF1c.3739C>T (p.Pro1247Ser)
c.1039C>T (p.Pro347Ser)
c.3724C>T (p.Pro1242Ser)
n.420C>T
c.3694C>T (p.Pro1232Ser)
c.2692C>T (p.Pro898Ser)
c.170C>T
n.2230C>T
c.3469C>T
c.3796C>T (p.Pro1266Ser)
c.3685C>T (p.Pro1229Ser)
c.3721C>T (p.Pro1241Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31233200delCA891843819NF1c.3740del (p.Pro1247LeufsTer8)
c.1040del (p.Pro347LeufsTer8)
c.3725del (p.Pro1242LeufsTer8)
n.421del
c.3695del (p.Pro1232LeufsTer8)
c.2693del (p.Pro898LeufsTer8)
c.171del
n.2231del
c.3470del
c.3797del (p.Pro1266LeufsTer8)
c.3686del (p.Pro1229LeufsTer8)
c.3722del (p.Pro1241LeufsTer8)
 ClinVar dbSNP
17g.31233200C>ACA398990695NF1c.3740C>A (p.Pro1247His)
c.1040C>A (p.Pro347His)
c.3725C>A (p.Pro1242His)
n.421C>A
c.3695C>A (p.Pro1232His)
c.2693C>A (p.Pro898His)
c.171C>A
n.2231C>A
c.3470C>A
c.3797C>A (p.Pro1266His)
c.3686C>A (p.Pro1229His)
c.3722C>A (p.Pro1241His)
17g.31233200C=CA2255570845NF1c.3740C= (p.Pro1247=)
c.1040C= (p.Pro347=)
c.3725C= (p.Pro1242=)
n.421C=
c.3695C= (p.Pro1232=)
c.2693C= (p.Pro898=)
c.171C=
n.2231C=
c.3470C=
c.3797C= (p.Pro1266=)
c.3686C= (p.Pro1229=)
c.3722C= (p.Pro1241=)
17g.31233200C>GCA398990698NF1c.3740C>G (p.Pro1247Arg)
c.1040C>G (p.Pro347Arg)
c.3725C>G (p.Pro1242Arg)
n.421C>G
c.3695C>G (p.Pro1232Arg)
c.2693C>G (p.Pro898Arg)
c.171C>G
n.2231C>G
c.3470C>G
c.3797C>G (p.Pro1266Arg)
c.3686C>G (p.Pro1229Arg)
c.3722C>G (p.Pro1241Arg)
17g.31233200C>TCA398990705NF1c.3740C>T (p.Pro1247Leu)
c.1040C>T (p.Pro347Leu)
c.3725C>T (p.Pro1242Leu)
n.421C>T
c.3695C>T (p.Pro1232Leu)
c.2693C>T (p.Pro898Leu)
c.171C>T
n.2231C>T
c.3470C>T
c.3797C>T (p.Pro1266Leu)
c.3686C>T (p.Pro1229Leu)
c.3722C>T (p.Pro1241Leu)
 ClinVar dbSNP
17g.31233200_31233201delinsACA2580618196NF1c.3740_3741delinsA (p.Pro1247HisfsTer8)
c.1040_1041delinsA (p.Pro347HisfsTer8)
c.3725_3726delinsA (p.Pro1242HisfsTer8)
n.421_422delinsA
c.3695_3696delinsA (p.Pro1232HisfsTer8)
c.2693_2694delinsA (p.Pro898HisfsTer8)
c.171_172delinsA
n.2231_2232delinsA
c.3470_3471delinsA
c.3797_3798delinsA (p.Pro1266HisfsTer8)
c.3686_3687delinsA (p.Pro1229HisfsTer8)
c.3722_3723delinsA (p.Pro1241HisfsTer8)
 ClinVar
17g.31233201T>ACA499443880NF1c.3741T>A (p.Pro1247=)
c.1041T>A (p.Pro347=)
c.3726T>A (p.Pro1242=)
n.422T>A
c.3696T>A (p.Pro1232=)
c.2694T>A (p.Pro898=)
c.172T>A
n.2232T>A
c.3471T>A
c.3798T>A (p.Pro1266=)
c.3687T>A (p.Pro1229=)
c.3723T>A (p.Pro1241=)
 ClinVar dbSNP
17g.31233201T>CCA499443882NF1c.3741T>C (p.Pro1247=)
c.1041T>C (p.Pro347=)
c.3726T>C (p.Pro1242=)
n.422T>C
c.3696T>C (p.Pro1232=)
c.2694T>C (p.Pro898=)
c.172T>C
n.2232T>C
c.3471T>C
c.3798T>C (p.Pro1266=)
c.3687T>C (p.Pro1229=)
c.3723T>C (p.Pro1241=)
 dbSNP
17g.31233201T>GCA499443883NF1c.3741T>G (p.Pro1247=)
c.1041T>G (p.Pro347=)
c.3726T>G (p.Pro1242=)
n.422T>G
c.3696T>G (p.Pro1232=)
c.2694T>G (p.Pro898=)
c.172T>G
n.2232T>G
c.3471T>G
c.3798T>G (p.Pro1266=)
c.3687T>G (p.Pro1229=)
c.3723T>G (p.Pro1241=)
17g.31233201T=CA2255570847NF1c.3741T= (p.Pro1247=)
c.1041T= (p.Pro347=)
c.3726T= (p.Pro1242=)
n.422T=
c.3696T= (p.Pro1232=)
c.2694T= (p.Pro898=)
c.172T=
n.2232T=
c.3471T=
c.3798T= (p.Pro1266=)
c.3687T= (p.Pro1229=)
c.3723T= (p.Pro1241=)
17g.31233202T>ACA398990710NF1c.3742T>A (p.Cys1248Ser)
c.1042T>A (p.Cys348Ser)
c.3727T>A (p.Cys1243Ser)
n.423T>A
c.3697T>A (p.Cys1233Ser)
c.2695T>A (p.Cys899Ser)
c.173T>A
n.2233T>A
c.3472T>A
c.3799T>A (p.Cys1267Ser)
c.3688T>A (p.Cys1230Ser)
c.3724T>A (p.Cys1242Ser)
 dbSNP
17g.31233202T>CCA398990712NF1c.3742T>C (p.Cys1248Arg)
c.1042T>C (p.Cys348Arg)
c.3727T>C (p.Cys1243Arg)
n.423T>C
c.3697T>C (p.Cys1233Arg)
c.2695T>C (p.Cys899Arg)
c.173T>C
n.2233T>C
c.3472T>C
c.3799T>C (p.Cys1267Arg)
c.3688T>C (p.Cys1230Arg)
c.3724T>C (p.Cys1242Arg)
 ClinVar dbSNP
17g.31233202T>GCA398990708NF1c.3742T>G (p.Cys1248Gly)
c.1042T>G (p.Cys348Gly)
c.3727T>G (p.Cys1243Gly)
n.423T>G
c.3697T>G (p.Cys1233Gly)
c.2695T>G (p.Cys899Gly)
c.173T>G
n.2233T>G
c.3472T>G
c.3799T>G (p.Cys1267Gly)
c.3688T>G (p.Cys1230Gly)
c.3724T>G (p.Cys1242Gly)
17g.31233203G>ACA398990716NF1c.3743G>A (p.Cys1248Tyr)
c.1043G>A (p.Cys348Tyr)
c.3728G>A (p.Cys1243Tyr)
n.424G>A
c.3698G>A (p.Cys1233Tyr)
c.2696G>A (p.Cys899Tyr)
c.174G>A
n.2234G>A
c.3473G>A
c.3800G>A (p.Cys1267Tyr)
c.3689G>A (p.Cys1230Tyr)
c.3725G>A (p.Cys1242Tyr)
 ClinVar dbSNP gnomAD v4
17g.31233203G>CCA398990720NF1c.3743G>C (p.Cys1248Ser)
c.1043G>C (p.Cys348Ser)
c.3728G>C (p.Cys1243Ser)
n.424G>C
c.3698G>C (p.Cys1233Ser)
c.2696G>C (p.Cys899Ser)
c.174G>C
n.2234G>C
c.3473G>C
c.3800G>C (p.Cys1267Ser)
c.3689G>C (p.Cys1230Ser)
c.3725G>C (p.Cys1242Ser)
 ClinVar dbSNP
17g.31233203G=CA2255570850NF1c.3743G= (p.Cys1248=)
c.1043G= (p.Cys348=)
c.3728G= (p.Cys1243=)
n.424G=
c.3698G= (p.Cys1233=)
c.2696G= (p.Cys899=)
c.174G=
n.2234G=
c.3473G=
c.3800G= (p.Cys1267=)
c.3689G= (p.Cys1230=)
c.3725G= (p.Cys1242=)
17g.31233203G>TCA398990718NF1c.3743G>T (p.Cys1248Phe)
c.1043G>T (p.Cys348Phe)
c.3728G>T (p.Cys1243Phe)
n.424G>T
c.3698G>T (p.Cys1233Phe)
c.2696G>T (p.Cys899Phe)
c.174G>T
n.2234G>T
c.3473G>T
c.3800G>T (p.Cys1267Phe)
c.3689G>T (p.Cys1230Phe)
c.3725G>T (p.Cys1242Phe)
17g.31233204T>ACA398990722NF1c.3744T>A (p.Cys1248Ter)
c.1044T>A (p.Cys348Ter)
c.3729T>A (p.Cys1243Ter)
n.425T>A
c.3699T>A (p.Cys1233Ter)
c.2697T>A (p.Cys899Ter)
c.175T>A
n.2235T>A
c.3474T>A
c.3801T>A (p.Cys1267Ter)
c.3690T>A (p.Cys1230Ter)
c.3726T>A (p.Cys1242Ter)
 dbSNP
17g.31233204T>CCA499443885NF1c.3744T>C (p.Cys1248=)
c.1044T>C (p.Cys348=)
c.3729T>C (p.Cys1243=)
n.425T>C
c.3699T>C (p.Cys1233=)
c.2697T>C (p.Cys899=)
c.175T>C
n.2235T>C
c.3474T>C
c.3801T>C (p.Cys1267=)
c.3690T>C (p.Cys1230=)
c.3726T>C (p.Cys1242=)
 ClinVar dbSNP gnomAD v4
17g.31233204T>GCA398990724NF1c.3744T>G (p.Cys1248Trp)
c.1044T>G (p.Cys348Trp)
c.3729T>G (p.Cys1243Trp)
n.425T>G
c.3699T>G (p.Cys1233Trp)
c.2697T>G (p.Cys899Trp)
c.175T>G
n.2235T>G
c.3474T>G
c.3801T>G (p.Cys1267Trp)
c.3690T>G (p.Cys1230Trp)
c.3726T>G (p.Cys1242Trp)
 dbSNP
17g.31233204T=CA2255570856NF1c.3744T= (p.Cys1248=)
c.1044T= (p.Cys348=)
c.3729T= (p.Cys1243=)
n.425T=
c.3699T= (p.Cys1233=)
c.2697T= (p.Cys899=)
c.175T=
n.2235T=
c.3474T=
c.3801T= (p.Cys1267=)
c.3690T= (p.Cys1230=)
c.3726T= (p.Cys1242=)
17g.31233205dupCA2573153363NF1c.3745dup (p.Ser1249PhefsTer5)
c.1045dup (p.Ser349PhefsTer5)
c.3730dup (p.Ser1244PhefsTer5)
n.426dup
c.3700dup (p.Ser1234PhefsTer5)
c.2698dup (p.Ser900PhefsTer5)
c.176dup
n.2236dup
c.3475dup
c.3802dup (p.Ser1268PhefsTer5)
c.3691dup (p.Ser1231PhefsTer5)
c.3727dup (p.Ser1243PhefsTer5)
 ClinVar dbSNP
17g.31233205T>ACA398990727NF1c.3745T>A (p.Ser1249Thr)
c.1045T>A (p.Ser349Thr)
c.3730T>A (p.Ser1244Thr)
n.426T>A
c.3700T>A (p.Ser1234Thr)
c.2698T>A (p.Ser900Thr)
c.176T>A
n.2236T>A
c.3475T>A
c.3802T>A (p.Ser1268Thr)
c.3691T>A (p.Ser1231Thr)
c.3727T>A (p.Ser1243Thr)
 dbSNP
17g.31233205T>CCA398990730NF1c.3745T>C (p.Ser1249Pro)
c.1045T>C (p.Ser349Pro)
c.3730T>C (p.Ser1244Pro)
n.426T>C
c.3700T>C (p.Ser1234Pro)
c.2698T>C (p.Ser900Pro)
c.176T>C
n.2236T>C
c.3475T>C
c.3802T>C (p.Ser1268Pro)
c.3691T>C (p.Ser1231Pro)
c.3727T>C (p.Ser1243Pro)
17g.31233205T>GCA398990732NF1c.3745T>G (p.Ser1249Ala)
c.1045T>G (p.Ser349Ala)
c.3730T>G (p.Ser1244Ala)
n.426T>G
c.3700T>G (p.Ser1234Ala)
c.2698T>G (p.Ser900Ala)
c.176T>G
n.2236T>G
c.3475T>G
c.3802T>G (p.Ser1268Ala)
c.3691T>G (p.Ser1231Ala)
c.3727T>G (p.Ser1243Ala)
17g.31233205T=CA2255570858NF1c.3745T= (p.Ser1249=)
c.1045T= (p.Ser349=)
c.3730T= (p.Ser1244=)
n.426T=
c.3700T= (p.Ser1234=)
c.2698T= (p.Ser900=)
c.176T=
n.2236T=
c.3475T=
c.3802T= (p.Ser1268=)
c.3691T= (p.Ser1231=)
c.3727T= (p.Ser1243=)
17g.31233206C>ACA398990737NF1c.3746C>A (p.Ser1249Tyr)
c.1046C>A (p.Ser349Tyr)
c.3731C>A (p.Ser1244Tyr)
n.427C>A
c.3701C>A (p.Ser1234Tyr)
c.2699C>A (p.Ser900Tyr)
c.177C>A
n.2237C>A
c.3476C>A
c.3803C>A (p.Ser1268Tyr)
c.3692C>A (p.Ser1231Tyr)
c.3728C>A (p.Ser1243Tyr)
17g.31233206C=CA2255570861NF1c.3746C= (p.Ser1249=)
c.1046C= (p.Ser349=)
c.3731C= (p.Ser1244=)
n.427C=
c.3701C= (p.Ser1234=)
c.2699C= (p.Ser900=)
c.177C=
n.2237C=
c.3476C=
c.3803C= (p.Ser1268=)
c.3692C= (p.Ser1231=)
c.3728C= (p.Ser1243=)
17g.31233206C>GCA398990738NF1c.3746C>G (p.Ser1249Cys)
c.1046C>G (p.Ser349Cys)
c.3731C>G (p.Ser1244Cys)
n.427C>G
c.3701C>G (p.Ser1234Cys)
c.2699C>G (p.Ser900Cys)
c.177C>G
n.2237C>G
c.3476C>G
c.3803C>G (p.Ser1268Cys)
c.3692C>G (p.Ser1231Cys)
c.3728C>G (p.Ser1243Cys)
17g.31233206C>TCA8486208NF1c.3746C>T (p.Ser1249Phe)
c.1046C>T (p.Ser349Phe)
c.3731C>T (p.Ser1244Phe)
n.427C>T
c.3701C>T (p.Ser1234Phe)
c.2699C>T (p.Ser900Phe)
c.177C>T
n.2237C>T
c.3476C>T
c.3803C>T (p.Ser1268Phe)
c.3692C>T (p.Ser1231Phe)
c.3728C>T (p.Ser1243Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233206dupCA289338328NF1c.3746dup (p.Gln1250SerfsTer4)
c.1046dup (p.Gln350SerfsTer4)
c.3731dup (p.Gln1245SerfsTer4)
n.427dup
c.3701dup (p.Gln1235SerfsTer4)
c.2699dup (p.Gln901SerfsTer4)
c.177dup
n.2237dup
c.3476dup
c.3803dup (p.Gln1269SerfsTer4)
c.3692dup (p.Gln1232SerfsTer4)
c.3728dup (p.Gln1244SerfsTer4)
 dbSNP
17g.31233207T>ACA499443891NF1c.3747T>A (p.Ser1249=)
c.1047T>A (p.Ser349=)
c.3732T>A (p.Ser1244=)
n.428T>A
c.3702T>A (p.Ser1234=)
c.2700T>A (p.Ser900=)
c.178T>A
n.2238T>A
c.3477T>A
c.3804T>A (p.Ser1268=)
c.3693T>A (p.Ser1231=)
c.3729T>A (p.Ser1243=)
 dbSNP
17g.31233207T>CCA499443890NF1c.3747T>C (p.Ser1249=)
c.1047T>C (p.Ser349=)
c.3732T>C (p.Ser1244=)
n.428T>C
c.3702T>C (p.Ser1234=)
c.2700T>C (p.Ser900=)
c.178T>C
n.2238T>C
c.3477T>C
c.3804T>C (p.Ser1268=)
c.3693T>C (p.Ser1231=)
c.3729T>C (p.Ser1243=)
17g.31233207T>GCA499443889NF1c.3747T>G (p.Ser1249=)
c.1047T>G (p.Ser349=)
c.3732T>G (p.Ser1244=)
n.428T>G
c.3702T>G (p.Ser1234=)
c.2700T>G (p.Ser900=)
c.178T>G
n.2238T>G
c.3477T>G
c.3804T>G (p.Ser1268=)
c.3693T>G (p.Ser1231=)
c.3729T>G (p.Ser1243=)
17g.31233208C>ACA398990743NF1c.3748C>A (p.Gln1250Lys)
c.1048C>A (p.Gln350Lys)
c.3733C>A (p.Gln1245Lys)
n.429C>A
c.3703C>A (p.Gln1235Lys)
c.2701C>A (p.Gln901Lys)
c.179C>A
n.2239C>A
c.3478C>A
c.3805C>A (p.Gln1269Lys)
c.3694C>A (p.Gln1232Lys)
c.3730C>A (p.Gln1244Lys)
17g.31233208C=CA2255570866NF1c.3748C= (p.Gln1250=)
c.1048C= (p.Gln350=)
c.3733C= (p.Gln1245=)
n.429C=
c.3703C= (p.Gln1235=)
c.2701C= (p.Gln901=)
c.179C=
n.2239C=
c.3478C=
c.3805C= (p.Gln1269=)
c.3694C= (p.Gln1232=)
c.3730C= (p.Gln1244=)
17g.31233208C>GCA398990745NF1c.3748C>G (p.Gln1250Glu)
c.1048C>G (p.Gln350Glu)
c.3733C>G (p.Gln1245Glu)
n.429C>G
c.3703C>G (p.Gln1235Glu)
c.2701C>G (p.Gln901Glu)
c.179C>G
n.2239C>G
c.3478C>G
c.3805C>G (p.Gln1269Glu)
c.3694C>G (p.Gln1232Glu)
c.3730C>G (p.Gln1244Glu)
17g.31233208C>TCA398990746NF1c.3748C>T (p.Gln1250Ter)
c.1048C>T (p.Gln350Ter)
c.3733C>T (p.Gln1245Ter)
n.429C>T
c.3703C>T (p.Gln1235Ter)
c.2701C>T (p.Gln901Ter)
c.179C>T
n.2239C>T
c.3478C>T
c.3805C>T (p.Gln1269Ter)
c.3694C>T (p.Gln1232Ter)
c.3730C>T (p.Gln1244Ter)
 ClinVar dbSNP gnomAD v4
17g.31233209A>CCA398990753NF1c.3749A>C (p.Gln1250Pro)
c.1049A>C (p.Gln350Pro)
c.3734A>C (p.Gln1245Pro)
n.430A>C
c.3704A>C (p.Gln1235Pro)
c.2702A>C (p.Gln901Pro)
c.180A>C
n.2240A>C
c.3479A>C
c.3806A>C (p.Gln1269Pro)
c.3695A>C (p.Gln1232Pro)
c.3731A>C (p.Gln1244Pro)
17g.31233209A>GCA398990748NF1c.3749A>G (p.Gln1250Arg)
c.1049A>G (p.Gln350Arg)
c.3734A>G (p.Gln1245Arg)
n.430A>G
c.3704A>G (p.Gln1235Arg)
c.2702A>G (p.Gln901Arg)
c.180A>G
n.2240A>G
c.3479A>G
c.3806A>G (p.Gln1269Arg)
c.3695A>G (p.Gln1232Arg)
c.3731A>G (p.Gln1244Arg)
 dbSNP gnomAD v4
17g.31233209A>TCA398990750NF1c.3749A>T (p.Gln1250Leu)
c.1049A>T (p.Gln350Leu)
c.3734A>T (p.Gln1245Leu)
n.430A>T
c.3704A>T (p.Gln1235Leu)
c.2702A>T (p.Gln901Leu)
c.180A>T
n.2240A>T
c.3479A>T
c.3806A>T (p.Gln1269Leu)
c.3695A>T (p.Gln1232Leu)
c.3731A>T (p.Gln1244Leu)
 dbSNP
17g.31233209_31233212delCA2573153365NF1c.3749_3752del (p.Gln1250ArgfsTer4)
c.1049_1052del (p.Gln350ArgfsTer4)
c.3734_3737del (p.Gln1245ArgfsTer4)
n.430_433del
c.3704_3707del (p.Gln1235ArgfsTer4)
c.2702_2705del (p.Gln901ArgfsTer4)
c.180_183del
n.2240_2243del
c.3479_3482del
c.3806_3809del (p.Gln1269ArgfsTer4)
c.3695_3698del (p.Gln1232ArgfsTer4)
c.3731_3734del (p.Gln1244ArgfsTer4)
 ClinVar dbSNP
17g.31233210delCA658761073NF1c.3750del (p.Gln1250HisfsTer5)
c.1050del (p.Gln350HisfsTer5)
c.3735del (p.Gln1245HisfsTer5)
n.431del
c.3705del (p.Gln1235HisfsTer5)
c.2703del (p.Gln901HisfsTer5)
c.181del
n.2241del
c.3480del
c.3807del (p.Gln1269HisfsTer5)
c.3696del (p.Gln1232HisfsTer5)
c.3732del (p.Gln1244HisfsTer5)
17g.31233210G>ACA499443895NF1c.3750G>A (p.Gln1250=)
c.1050G>A (p.Gln350=)
c.3735G>A (p.Gln1245=)
n.431G>A
c.3705G>A (p.Gln1235=)
c.2703G>A (p.Gln901=)
c.181G>A
n.2241G>A
c.3480G>A
c.3807G>A (p.Gln1269=)
c.3696G>A (p.Gln1232=)
c.3732G>A (p.Gln1244=)
17g.31233210G>CCA398990754NF1c.3750G>C (p.Gln1250His)
c.1050G>C (p.Gln350His)
c.3735G>C (p.Gln1245His)
n.431G>C
c.3705G>C (p.Gln1235His)
c.2703G>C (p.Gln901His)
c.181G>C
n.2241G>C
c.3480G>C
c.3807G>C (p.Gln1269His)
c.3696G>C (p.Gln1232His)
c.3732G>C (p.Gln1244His)
 dbSNP
17g.31233210G>TCA398990757NF1c.3750G>T (p.Gln1250His)
c.1050G>T (p.Gln350His)
c.3735G>T (p.Gln1245His)
n.431G>T
c.3705G>T (p.Gln1235His)
c.2703G>T (p.Gln901His)
c.181G>T
n.2241G>T
c.3480G>T
c.3807G>T (p.Gln1269His)
c.3696G>T (p.Gln1232His)
c.3732G>T (p.Gln1244His)
17g.31233211T>ACA398990760NF1c.3751T>A (p.Trp1251Arg)
c.1051T>A (p.Trp351Arg)
c.3736T>A (p.Trp1246Arg)
n.432T>A
c.3706T>A (p.Trp1236Arg)
c.2704T>A (p.Trp902Arg)
c.182T>A
n.2242T>A
c.3481T>A
c.3808T>A (p.Trp1270Arg)
c.3697T>A (p.Trp1233Arg)
c.3733T>A (p.Trp1245Arg)
 dbSNP gnomAD v4
17g.31233211T>CCA398990762NF1c.3751T>C (p.Trp1251Arg)
c.1051T>C (p.Trp351Arg)
c.3736T>C (p.Trp1246Arg)
n.432T>C
c.3706T>C (p.Trp1236Arg)
c.2704T>C (p.Trp902Arg)
c.182T>C
n.2242T>C
c.3481T>C
c.3808T>C (p.Trp1270Arg)
c.3697T>C (p.Trp1233Arg)
c.3733T>C (p.Trp1245Arg)
 ClinVar dbSNP gnomAD v4
17g.31233211T>GCA398990765NF1c.3751T>G (p.Trp1251Gly)
c.1051T>G (p.Trp351Gly)
c.3736T>G (p.Trp1246Gly)
n.432T>G
c.3706T>G (p.Trp1236Gly)
c.2704T>G (p.Trp902Gly)
c.182T>G
n.2242T>G
c.3481T>G
c.3808T>G (p.Trp1270Gly)
c.3697T>G (p.Trp1233Gly)
c.3733T>G (p.Trp1245Gly)
17g.31233211T=CA2255570870NF1c.3751T= (p.Trp1251=)
c.1051T= (p.Trp351=)
c.3736T= (p.Trp1246=)
n.432T=
c.3706T= (p.Trp1236=)
c.2704T= (p.Trp902=)
c.182T=
n.2242T=
c.3481T=
c.3808T= (p.Trp1270=)
c.3697T= (p.Trp1233=)
c.3733T= (p.Trp1245=)
17g.31233212G>ACA398990770NF1c.3752G>A (p.Trp1251Ter)
c.1052G>A (p.Trp351Ter)
c.3737G>A (p.Trp1246Ter)
n.433G>A
c.3707G>A (p.Trp1236Ter)
c.2705G>A (p.Trp902Ter)
c.183G>A
n.2243G>A
c.3482G>A
c.3809G>A (p.Trp1270Ter)
c.3698G>A (p.Trp1233Ter)
c.3734G>A (p.Trp1245Ter)
 ClinVar dbSNP gnomAD v2
17g.31233212G>CCA398990773NF1c.3752G>C (p.Trp1251Ser)
c.1052G>C (p.Trp351Ser)
c.3737G>C (p.Trp1246Ser)
n.433G>C
c.3707G>C (p.Trp1236Ser)
c.2705G>C (p.Trp902Ser)
c.183G>C
n.2243G>C
c.3482G>C
c.3809G>C (p.Trp1270Ser)
c.3698G>C (p.Trp1233Ser)
c.3734G>C (p.Trp1245Ser)
 dbSNP
17g.31233212G=CA2255570873NF1c.3752G= (p.Trp1251=)
c.1052G= (p.Trp351=)
c.3737G= (p.Trp1246=)
n.433G=
c.3707G= (p.Trp1236=)
c.2705G= (p.Trp902=)
c.183G=
n.2243G=
c.3482G=
c.3809G= (p.Trp1270=)
c.3698G= (p.Trp1233=)
c.3734G= (p.Trp1245=)
17g.31233212G>TCA398990774NF1c.3752G>T (p.Trp1251Leu)
c.1052G>T (p.Trp351Leu)
c.3737G>T (p.Trp1246Leu)
n.433G>T
c.3707G>T (p.Trp1236Leu)
c.2705G>T (p.Trp902Leu)
c.183G>T
n.2243G>T
c.3482G>T
c.3809G>T (p.Trp1270Leu)
c.3698G>T (p.Trp1233Leu)
c.3734G>T (p.Trp1245Leu)
17g.31233214delCA2695224918NF1c.3753+1del
c.1053+1del
c.3738+1del
n.435del
c.3708+1del
c.2706+1del
c.184+1del
n.2244+1del
c.3483+1del
c.3810+1del
c.3699+1del
c.3735+1del
17g.31233213G>ACA398990777NF1c.3753G>A (p.Trp1251Ter)
c.1053G>A (p.Trp351Ter)
c.3738G>A (p.Trp1246Ter)
n.434G>A
c.3708G>A (p.Trp1236Ter)
c.2706G>A (p.Trp902Ter)
c.184G>A
n.2244G>A
c.3483G>A
c.3810G>A (p.Trp1270Ter)
c.3699G>A (p.Trp1233Ter)
c.3735G>A (p.Trp1245Ter)
 ClinVar dbSNP gnomAD v4
17g.31233213G>CCA398990779NF1c.3753G>C (p.Trp1251Cys)
c.1053G>C (p.Trp351Cys)
c.3738G>C (p.Trp1246Cys)
n.434G>C
c.3708G>C (p.Trp1236Cys)
c.2706G>C (p.Trp902Cys)
c.184G>C
n.2244G>C
c.3483G>C
c.3810G>C (p.Trp1270Cys)
c.3699G>C (p.Trp1233Cys)
c.3735G>C (p.Trp1245Cys)
 dbSNP
17g.31233213G=CA2255570880NF1c.3753G= (p.Trp1251=)
c.1053G= (p.Trp351=)
c.3738G= (p.Trp1246=)
n.434G=
c.3708G= (p.Trp1236=)
c.2706G= (p.Trp902=)
c.184G=
n.2244G=
c.3483G=
c.3810G= (p.Trp1270=)
c.3699G= (p.Trp1233=)
c.3735G= (p.Trp1245=)
17g.31233213G>TCA398990781NF1c.3753G>T (p.Trp1251Cys)
c.1053G>T (p.Trp351Cys)
c.3738G>T (p.Trp1246Cys)
n.434G>T
c.3708G>T (p.Trp1236Cys)
c.2706G>T (p.Trp902Cys)
c.184G>T
n.2244G>T
c.3483G>T
c.3810G>T (p.Trp1270Cys)
c.3699G>T (p.Trp1233Cys)
c.3735G>T (p.Trp1245Cys)
 dbSNP
17g.31233213_31233214insTACCA2695224919NF1c.3753_3753+1insTAC (n.3753_3753+1insTAC)
c.1053_1053+1insTAC (n.1053_1053+1insTAC)
c.3738_3738+1insTAC (n.3738_3738+1insTAC)
n.434_435insTAC
c.3708_3708+1insTAC (n.3708_3708+1insTAC)
c.2706_2706+1insTAC (n.2706_2706+1insTAC)
c.184_184+1insTAC
n.2244_2244+1insTAC
c.3483_3483+1insTAC
c.3810_3810+1insTAC (n.3810_3810+1insTAC)
c.3699_3699+1insTAC (n.3699_3699+1insTAC)
c.3735_3735+1insTAC (n.3735_3735+1insTAC)
17g.31233214G>ACA398990787NF1c.3753+1G>A (n.3753+1G>A)
c.1053+1G>A (n.1053+1G>A)
c.3738+1G>A (n.3738+1G>A)
n.435G>A
c.3708+1G>A (n.3708+1G>A)
c.2706+1G>A (n.2706+1G>A)
c.184+1G>A
n.2244+1G>A
c.3483+1G>A
c.3810+1G>A (n.3810+1G>A)
c.3699+1G>A (n.3699+1G>A)
c.3735+1G>A (n.3735+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31233214G>CCA398990785NF1c.3753+1G>C (n.3753+1G>C)
c.1053+1G>C (n.1053+1G>C)
c.3738+1G>C (n.3738+1G>C)
n.435G>C
c.3708+1G>C (n.3708+1G>C)
c.2706+1G>C (n.2706+1G>C)
c.184+1G>C
n.2244+1G>C
c.3483+1G>C
c.3810+1G>C (n.3810+1G>C)
c.3699+1G>C (n.3699+1G>C)
c.3735+1G>C (n.3735+1G>C)
 ClinVar dbSNP
17g.31233214G=CA2255570886NF1c.3753+1G= (n.3753+1G=)
c.1053+1G= (n.1053+1G=)
c.3738+1G= (n.3738+1G=)
n.435G=
c.3708+1G= (n.3708+1G=)
c.2706+1G= (n.2706+1G=)
c.184+1G=
n.2244+1G=
c.3483+1G=
c.3810+1G= (n.3810+1G=)
c.3699+1G= (n.3699+1G=)
c.3735+1G= (n.3735+1G=)
17g.31233214G>TCA398990783NF1c.3753+1G>T (n.3753+1G>T)
c.1053+1G>T (n.1053+1G>T)
c.3738+1G>T (n.3738+1G>T)
n.435G>T
c.3708+1G>T (n.3708+1G>T)
c.2706+1G>T (n.2706+1G>T)
c.184+1G>T
n.2244+1G>T
c.3483+1G>T
c.3810+1G>T (n.3810+1G>T)
c.3699+1G>T (n.3699+1G>T)
c.3735+1G>T (n.3735+1G>T)
 ClinVar dbSNP
17g.31233216_31233219delCA2573153366NF1c.3753+3_3753+6del (n.3753+3_3753+6del)
c.1053+3_1053+6del (n.1053+3_1053+6del)
c.3738+3_3738+6del (n.3738+3_3738+6del)
n.437_440del
c.3708+3_3708+6del (n.3708+3_3708+6del)
c.2706+3_2706+6del (n.2706+3_2706+6del)
c.184+3_184+6del
n.2244+3_2244+6del
c.3483+3_3483+6del
c.3810+3_3810+6del (n.3810+3_3810+6del)
c.3699+3_3699+6del (n.3699+3_3699+6del)
c.3735+3_3735+6del (n.3735+3_3735+6del)
 ClinVar dbSNP
17g.31233215T>ACA398990790NF1c.3753+2T>A (n.3753+2T>A)
c.1053+2T>A (n.1053+2T>A)
c.3738+2T>A (n.3738+2T>A)
n.436T>A
c.3708+2T>A (n.3708+2T>A)
c.2706+2T>A (n.2706+2T>A)
c.184+2T>A
n.2244+2T>A
c.3483+2T>A
c.3810+2T>A (n.3810+2T>A)
c.3699+2T>A (n.3699+2T>A)
c.3735+2T>A (n.3735+2T>A)
 dbSNP gnomAD v4
17g.31233215T>CCA398990792NF1c.3753+2T>C (n.3753+2T>C)
c.1053+2T>C (n.1053+2T>C)
c.3738+2T>C (n.3738+2T>C)
n.436T>C
c.3708+2T>C (n.3708+2T>C)
c.2706+2T>C (n.2706+2T>C)
c.184+2T>C
n.2244+2T>C
c.3483+2T>C
c.3810+2T>C (n.3810+2T>C)
c.3699+2T>C (n.3699+2T>C)
c.3735+2T>C (n.3735+2T>C)
 ClinVar
17g.31233215T>GCA398990795NF1c.3753+2T>G (n.3753+2T>G)
c.1053+2T>G (n.1053+2T>G)
c.3738+2T>G (n.3738+2T>G)
n.436T>G
c.3708+2T>G (n.3708+2T>G)
c.2706+2T>G (n.2706+2T>G)
c.184+2T>G
n.2244+2T>G
c.3483+2T>G
c.3810+2T>G (n.3810+2T>G)
c.3699+2T>G (n.3699+2T>G)
c.3735+2T>G (n.3735+2T>G)
17g.31233215dupCA2582342155NF1c.3753+2dup (n.3753+2dup)
c.1053+2dup (n.1053+2dup)
c.3738+2dup (n.3738+2dup)
n.436dup
c.3708+2dup (n.3708+2dup)
c.2706+2dup (n.2706+2dup)
c.184+2dup
n.2244+2dup
c.3483+2dup
c.3810+2dup (n.3810+2dup)
c.3699+2dup (n.3699+2dup)
c.3735+2dup (n.3735+2dup)
 ClinVar
17g.31233216A=CA2255570889NF1c.3753+3A= (n.3753+3A=)
c.1053+3A= (n.1053+3A=)
c.3738+3A= (n.3738+3A=)
n.437A=
c.3708+3A= (n.3708+3A=)
c.2706+3A= (n.2706+3A=)
c.184+3A=
n.2244+3A=
c.3483+3A=
c.3810+3A= (n.3810+3A=)
c.3699+3A= (n.3699+3A=)
c.3735+3A= (n.3735+3A=)
17g.31233216A>GCA2255570890NF1c.3753+3A>G (n.3753+3A>G)
c.1053+3A>G (n.1053+3A>G)
c.3738+3A>G (n.3738+3A>G)
n.437A>G
c.3708+3A>G (n.3708+3A>G)
c.2706+3A>G (n.2706+3A>G)
c.184+3A>G
n.2244+3A>G
c.3483+3A>G
c.3810+3A>G (n.3810+3A>G)
c.3699+3A>G (n.3699+3A>G)
c.3735+3A>G (n.3735+3A>G)
 ClinVar dbSNP
17g.31233216A>TCA658824759NF1c.3753+3A>T (n.3753+3A>T)
c.1053+3A>T (n.1053+3A>T)
c.3738+3A>T (n.3738+3A>T)
n.437A>T
c.3708+3A>T (n.3708+3A>T)
c.2706+3A>T (n.2706+3A>T)
c.184+3A>T
n.2244+3A>T
c.3483+3A>T
c.3810+3A>T (n.3810+3A>T)
c.3699+3A>T (n.3699+3A>T)
c.3735+3A>T (n.3735+3A>T)
 ClinVar dbSNP
17g.31233216_31233217dupCA2831875352NF1c.3753+3_3753+4dup (n.3753+3_3753+4dup)
c.1053+3_1053+4dup (n.1053+3_1053+4dup)
c.3738+3_3738+4dup (n.3738+3_3738+4dup)
n.437_438dup
c.3708+3_3708+4dup (n.3708+3_3708+4dup)
c.2706+3_2706+4dup (n.2706+3_2706+4dup)
c.184+3_184+4dup
n.2244+3_2244+4dup
c.3483+3_3483+4dup
c.3810+3_3810+4dup (n.3810+3_3810+4dup)
c.3699+3_3699+4dup (n.3699+3_3699+4dup)
c.3735+3_3735+4dup (n.3735+3_3735+4dup)
17g.31233217A=CA2255570895NF1c.3753+4A= (n.3753+4A=)
c.1053+4A= (n.1053+4A=)
c.3738+4A= (n.3738+4A=)
n.438A=
c.3708+4A= (n.3708+4A=)
c.2706+4A= (n.2706+4A=)
c.184+4A=
n.2244+4A=
c.3483+4A=
c.3810+4A= (n.3810+4A=)
c.3699+4A= (n.3699+4A=)
c.3735+4A= (n.3735+4A=)
17g.31233217A>GCA2255570893NF1c.3753+4A>G (n.3753+4A>G)
c.1053+4A>G (n.1053+4A>G)
c.3738+4A>G (n.3738+4A>G)
n.438A>G
c.3708+4A>G (n.3708+4A>G)
c.2706+4A>G (n.2706+4A>G)
c.184+4A>G
n.2244+4A>G
c.3483+4A>G
c.3810+4A>G (n.3810+4A>G)
c.3699+4A>G (n.3699+4A>G)
c.3735+4A>G (n.3735+4A>G)
 ClinVar dbSNP
17g.31233217A>TCA2733359637NF1c.3753+4A>T (n.3753+4A>T)
c.1053+4A>T (n.1053+4A>T)
c.3738+4A>T (n.3738+4A>T)
n.438A>T
c.3708+4A>T (n.3708+4A>T)
c.2706+4A>T (n.2706+4A>T)
c.184+4A>T
n.2244+4A>T
c.3483+4A>T
c.3810+4A>T (n.3810+4A>T)
c.3699+4A>T (n.3699+4A>T)
c.3735+4A>T (n.3735+4A>T)
 dbSNP
17g.31233218G>ACA982966609NF1c.3753+5G>A (n.3753+5G>A)
c.1053+5G>A (n.1053+5G>A)
c.3738+5G>A (n.3738+5G>A)
n.439G>A
c.3708+5G>A (n.3708+5G>A)
c.2706+5G>A (n.2706+5G>A)
c.184+5G>A
n.2244+5G>A
c.3483+5G>A
c.3810+5G>A (n.3810+5G>A)
c.3699+5G>A (n.3699+5G>A)
c.3735+5G>A (n.3735+5G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31233218G>CCA915949924NF1c.3753+5G>C (n.3753+5G>C)
c.1053+5G>C (n.1053+5G>C)
c.3738+5G>C (n.3738+5G>C)
n.439G>C
c.3708+5G>C (n.3708+5G>C)
c.2706+5G>C (n.2706+5G>C)
c.184+5G>C
n.2244+5G>C
c.3483+5G>C
c.3810+5G>C (n.3810+5G>C)
c.3699+5G>C (n.3699+5G>C)
c.3735+5G>C (n.3735+5G>C)
 ClinVar dbSNP
17g.31233218G=CA2255570899NF1c.3753+5G= (n.3753+5G=)
c.1053+5G= (n.1053+5G=)
c.3738+5G= (n.3738+5G=)
n.439G=
c.3708+5G= (n.3708+5G=)
c.2706+5G= (n.2706+5G=)
c.184+5G=
n.2244+5G=
c.3483+5G=
c.3810+5G= (n.3810+5G=)
c.3699+5G= (n.3699+5G=)
c.3735+5G= (n.3735+5G=)
17g.31233220G>ACA658798784NF1c.3753+7G>A (n.3753+7G>A)
c.1053+7G>A (n.1053+7G>A)
c.3738+7G>A (n.3738+7G>A)
n.441G>A
c.3708+7G>A (n.3708+7G>A)
c.2706+7G>A (n.2706+7G>A)
c.184+7G>A
n.2244+7G>A
c.3483+7G>A
c.3810+7G>A (n.3810+7G>A)
c.3699+7G>A (n.3699+7G>A)
c.3735+7G>A (n.3735+7G>A)
 ClinVar dbSNP gnomAD v4
17g.31233220G>CCA2733262537NF1c.3753+7G>C (n.3753+7G>C)
c.1053+7G>C (n.1053+7G>C)
c.3738+7G>C (n.3738+7G>C)
n.441G>C
c.3708+7G>C (n.3708+7G>C)
c.2706+7G>C (n.2706+7G>C)
c.184+7G>C
n.2244+7G>C
c.3483+7G>C
c.3810+7G>C (n.3810+7G>C)
c.3699+7G>C (n.3699+7G>C)
c.3735+7G>C (n.3735+7G>C)
 dbSNP
17g.31233220G=CA2255570902NF1c.3753+7G= (n.3753+7G=)
c.1053+7G= (n.1053+7G=)
c.3738+7G= (n.3738+7G=)
n.441G=
c.3708+7G= (n.3708+7G=)
c.2706+7G= (n.2706+7G=)
c.184+7G=
n.2244+7G=
c.3483+7G=
c.3810+7G= (n.3810+7G=)
c.3699+7G= (n.3699+7G=)
c.3735+7G= (n.3735+7G=)
17g.31233221A=CA2255570904NF1c.3753+8A= (n.3753+8A=)
c.1053+8A= (n.1053+8A=)
c.3738+8A= (n.3738+8A=)
n.442A=
c.3708+8A= (n.3708+8A=)
c.2706+8A= (n.2706+8A=)
c.184+8A=
n.2244+8A=
c.3483+8A=
c.3810+8A= (n.3810+8A=)
c.3699+8A= (n.3699+8A=)
c.3735+8A= (n.3735+8A=)
17g.31233221A>CCA2809192249NF1c.3753+8A>C (n.3753+8A>C)
c.1053+8A>C (n.1053+8A>C)
c.3738+8A>C (n.3738+8A>C)
n.442A>C
c.3708+8A>C (n.3708+8A>C)
c.2706+8A>C (n.2706+8A>C)
c.184+8A>C
n.2244+8A>C
c.3483+8A>C
c.3810+8A>C (n.3810+8A>C)
c.3699+8A>C (n.3699+8A>C)
c.3735+8A>C (n.3735+8A>C)
17g.31233221A>GCA625780596NF1c.3753+8A>G (n.3753+8A>G)
c.1053+8A>G (n.1053+8A>G)
c.3738+8A>G (n.3738+8A>G)
n.442A>G
c.3708+8A>G (n.3708+8A>G)
c.2706+8A>G (n.2706+8A>G)
c.184+8A>G
n.2244+8A>G
c.3483+8A>G
c.3810+8A>G (n.3810+8A>G)
c.3699+8A>G (n.3699+8A>G)
c.3735+8A>G (n.3735+8A>G)
 ClinVar dbSNP gnomAD v2
17g.31233222T>ACA2733609176NF1c.3753+9T>A (n.3753+9T>A)
c.1053+9T>A (n.1053+9T>A)
c.3738+9T>A (n.3738+9T>A)
n.443T>A
c.3708+9T>A (n.3708+9T>A)
c.2706+9T>A (n.2706+9T>A)
c.184+9T>A
n.2244+9T>A
c.3483+9T>A
c.3810+9T>A (n.3810+9T>A)
c.3699+9T>A (n.3699+9T>A)
c.3735+9T>A (n.3735+9T>A)
 dbSNP
17g.31233222T>GCA2576223451NF1c.3753+9T>G (n.3753+9T>G)
c.1053+9T>G (n.1053+9T>G)
c.3738+9T>G (n.3738+9T>G)
n.443T>G
c.3708+9T>G (n.3708+9T>G)
c.2706+9T>G (n.2706+9T>G)
c.184+9T>G
n.2244+9T>G
c.3483+9T>G
c.3810+9T>G (n.3810+9T>G)
c.3699+9T>G (n.3699+9T>G)
c.3735+9T>G (n.3735+9T>G)
 dbSNP
17g.31233223delCA2576223450NF1c.3753+10del (n.3753+10del)
c.1053+10del (n.1053+10del)
c.3738+10del (n.3738+10del)
n.444del
c.3708+10del (n.3708+10del)
c.2706+10del (n.2706+10del)
c.184+10del
n.2244+10del
c.3483+10del
c.3810+10del (n.3810+10del)
c.3699+10del (n.3699+10del)
c.3735+10del (n.3735+10del)
17g.31233223T>ACA2733211002NF1c.3753+10T>A (n.3753+10T>A)
c.1053+10T>A (n.1053+10T>A)
c.3738+10T>A (n.3738+10T>A)
n.444T>A
c.3708+10T>A (n.3708+10T>A)
c.2706+10T>A (n.2706+10T>A)
c.184+10T>A
n.2244+10T>A
c.3483+10T>A
c.3810+10T>A (n.3810+10T>A)
c.3699+10T>A (n.3699+10T>A)
c.3735+10T>A (n.3735+10T>A)
 dbSNP
17g.31233223T>CCA8486209NF1c.3753+10T>C (n.3753+10T>C)
c.1053+10T>C (n.1053+10T>C)
c.3738+10T>C (n.3738+10T>C)
n.444T>C
c.3708+10T>C (n.3708+10T>C)
c.2706+10T>C (n.2706+10T>C)
c.184+10T>C
n.2244+10T>C
c.3483+10T>C
c.3810+10T>C (n.3810+10T>C)
c.3699+10T>C (n.3699+10T>C)
c.3735+10T>C (n.3735+10T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233223T>GCA2697559808NF1c.3753+10T>G (n.3753+10T>G)
c.1053+10T>G (n.1053+10T>G)
c.3738+10T>G (n.3738+10T>G)
n.444T>G
c.3708+10T>G (n.3708+10T>G)
c.2706+10T>G (n.2706+10T>G)
c.184+10T>G
n.2244+10T>G
c.3483+10T>G
c.3810+10T>G (n.3810+10T>G)
c.3699+10T>G (n.3699+10T>G)
c.3735+10T>G (n.3735+10T>G)
 ClinVar
17g.31233223T=CA2255570906NF1c.3753+10T= (n.3753+10T=)
c.1053+10T= (n.1053+10T=)
c.3738+10T= (n.3738+10T=)
n.444T=
c.3708+10T= (n.3708+10T=)
c.2706+10T= (n.2706+10T=)
c.184+10T=
n.2244+10T=
c.3483+10T=
c.3810+10T= (n.3810+10T=)
c.3699+10T= (n.3699+10T=)
c.3735+10T= (n.3735+10T=)
17g.31233224A=CA2255570908NF1c.3753+11A= (n.3753+11A=)
c.1053+11A= (n.1053+11A=)
c.3738+11A= (n.3738+11A=)
n.445A=
c.3708+11A= (n.3708+11A=)
c.2706+11A= (n.2706+11A=)
c.184+11A=
n.2244+11A=
c.3483+11A=
c.3810+11A= (n.3810+11A=)
c.3699+11A= (n.3699+11A=)
c.3735+11A= (n.3735+11A=)
17g.31233224A>CCA8486210NF1c.3753+11A>C (n.3753+11A>C)
c.1053+11A>C (n.1053+11A>C)
c.3738+11A>C (n.3738+11A>C)
n.445A>C
c.3708+11A>C (n.3708+11A>C)
c.2706+11A>C (n.2706+11A>C)
c.184+11A>C
n.2244+11A>C
c.3483+11A>C
c.3810+11A>C (n.3810+11A>C)
c.3699+11A>C (n.3699+11A>C)
c.3735+11A>C (n.3735+11A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233224A>GCA2733206700NF1c.3753+11A>G (n.3753+11A>G)
c.1053+11A>G (n.1053+11A>G)
c.3738+11A>G (n.3738+11A>G)
n.445A>G
c.3708+11A>G (n.3708+11A>G)
c.2706+11A>G (n.2706+11A>G)
c.184+11A>G
n.2244+11A>G
c.3483+11A>G
c.3810+11A>G (n.3810+11A>G)
c.3699+11A>G (n.3699+11A>G)
c.3735+11A>G (n.3735+11A>G)
 dbSNP
17g.31233225G>ACA2733609233NF1c.3753+12G>A (n.3753+12G>A)
c.1053+12G>A (n.1053+12G>A)
c.3738+12G>A (n.3738+12G>A)
n.446G>A
c.3708+12G>A (n.3708+12G>A)
c.2706+12G>A (n.2706+12G>A)
c.184+12G>A
n.2244+12G>A
c.3483+12G>A
c.3810+12G>A (n.3810+12G>A)
c.3699+12G>A (n.3699+12G>A)
c.3735+12G>A (n.3735+12G>A)
 dbSNP
17g.31233225G>CCA2697559809NF1c.3753+12G>C (n.3753+12G>C)
c.1053+12G>C (n.1053+12G>C)
c.3738+12G>C (n.3738+12G>C)
n.446G>C
c.3708+12G>C (n.3708+12G>C)
c.2706+12G>C (n.2706+12G>C)
c.184+12G>C
n.2244+12G>C
c.3483+12G>C
c.3810+12G>C (n.3810+12G>C)
c.3699+12G>C (n.3699+12G>C)
c.3735+12G>C (n.3735+12G>C)
 ClinVar dbSNP
17g.31233226A>CCA2573153367NF1c.3753+13A>C (n.3753+13A>C)
c.1053+13A>C (n.1053+13A>C)
c.3738+13A>C (n.3738+13A>C)
n.447A>C
c.3708+13A>C (n.3708+13A>C)
c.2706+13A>C (n.2706+13A>C)
c.184+13A>C
n.2244+13A>C
c.3483+13A>C
c.3810+13A>C (n.3810+13A>C)
c.3699+13A>C (n.3699+13A>C)
c.3735+13A>C (n.3735+13A>C)
 ClinVar dbSNP
17g.31233227G>ACA2733609305NF1c.3753+14G>A (n.3753+14G>A)
c.1053+14G>A (n.1053+14G>A)
c.3738+14G>A (n.3738+14G>A)
n.448G>A
c.3708+14G>A (n.3708+14G>A)
c.2706+14G>A (n.2706+14G>A)
c.184+14G>A
n.2244+14G>A
c.3483+14G>A
c.3810+14G>A (n.3810+14G>A)
c.3699+14G>A (n.3699+14G>A)
c.3735+14G>A (n.3735+14G>A)
 dbSNP
17g.31233227G>CCA2733609444NF1c.3753+14G>C (n.3753+14G>C)
c.1053+14G>C (n.1053+14G>C)
c.3738+14G>C (n.3738+14G>C)
n.448G>C
c.3708+14G>C (n.3708+14G>C)
c.2706+14G>C (n.2706+14G>C)
c.184+14G>C
n.2244+14G>C
c.3483+14G>C
c.3810+14G>C (n.3810+14G>C)
c.3699+14G>C (n.3699+14G>C)
c.3735+14G>C (n.3735+14G>C)
 dbSNP
17g.31233228delCA2576223452NF1c.3753+15del (n.3753+15del)
c.1053+15del (n.1053+15del)
c.3738+15del (n.3738+15del)
n.449del
c.3708+15del (n.3708+15del)
c.2706+15del (n.2706+15del)
c.184+15del
n.2244+15del
c.3483+15del
c.3810+15del (n.3810+15del)
c.3699+15del (n.3699+15del)
c.3735+15del (n.3735+15del)
17g.31233228T>CCA2255570912NF1c.3753+15T>C (n.3753+15T>C)
c.1053+15T>C (n.1053+15T>C)
c.3738+15T>C (n.3738+15T>C)
n.449T>C
c.3708+15T>C (n.3708+15T>C)
c.2706+15T>C (n.2706+15T>C)
c.184+15T>C
n.2244+15T>C
c.3483+15T>C
c.3810+15T>C (n.3810+15T>C)
c.3699+15T>C (n.3699+15T>C)
c.3735+15T>C (n.3735+15T>C)
 dbSNP
17g.31233228T=CA2255570910NF1c.3753+15T= (n.3753+15T=)
c.1053+15T= (n.1053+15T=)
c.3738+15T= (n.3738+15T=)
n.449T=
c.3708+15T= (n.3708+15T=)
c.2706+15T= (n.2706+15T=)
c.184+15T=
n.2244+15T=
c.3483+15T=
c.3810+15T= (n.3810+15T=)
c.3699+15T= (n.3699+15T=)
c.3735+15T= (n.3735+15T=)
17g.31233229A>GCA2637081859NF1c.3753+16A>G (n.3753+16A>G)
c.1053+16A>G (n.1053+16A>G)
c.3738+16A>G (n.3738+16A>G)
n.450A>G
c.3708+16A>G (n.3708+16A>G)
c.2706+16A>G (n.2706+16A>G)
c.184+16A>G
n.2244+16A>G
c.3483+16A>G
c.3810+16A>G (n.3810+16A>G)
c.3699+16A>G (n.3699+16A>G)
c.3735+16A>G (n.3735+16A>G)
 ClinVar gnomAD v4
17g.31233229A>TCA2573153368NF1c.3753+16A>T (n.3753+16A>T)
c.1053+16A>T (n.1053+16A>T)
c.3738+16A>T (n.3738+16A>T)
n.450A>T
c.3708+16A>T (n.3708+16A>T)
c.2706+16A>T (n.2706+16A>T)
c.184+16A>T
n.2244+16A>T
c.3483+16A>T
c.3810+16A>T (n.3810+16A>T)
c.3699+16A>T (n.3699+16A>T)
c.3735+16A>T (n.3735+16A>T)
 ClinVar dbSNP
17g.31233230A>GCA2733609461NF1c.3753+17A>G (n.3753+17A>G)
c.1053+17A>G (n.1053+17A>G)
c.3738+17A>G (n.3738+17A>G)
n.451A>G
c.3708+17A>G (n.3708+17A>G)
c.2706+17A>G (n.2706+17A>G)
c.184+17A>G
n.2244+17A>G
c.3483+17A>G
c.3810+17A>G (n.3810+17A>G)
c.3699+17A>G (n.3699+17A>G)
c.3735+17A>G (n.3735+17A>G)
 dbSNP
17g.31233230A>TCA2733609462NF1c.3753+17A>T (n.3753+17A>T)
c.1053+17A>T (n.1053+17A>T)
c.3738+17A>T (n.3738+17A>T)
n.451A>T
c.3708+17A>T (n.3708+17A>T)
c.2706+17A>T (n.2706+17A>T)
c.184+17A>T
n.2244+17A>T
c.3483+17A>T
c.3810+17A>T (n.3810+17A>T)
c.3699+17A>T (n.3699+17A>T)
c.3735+17A>T (n.3735+17A>T)
 dbSNP
17g.31233231G>ACA2573153369NF1c.3753+18G>A (n.3753+18G>A)
c.1053+18G>A (n.1053+18G>A)
c.3738+18G>A (n.3738+18G>A)
n.452G>A
c.3708+18G>A (n.3708+18G>A)
c.2706+18G>A (n.2706+18G>A)
c.184+18G>A
n.2244+18G>A
c.3483+18G>A
c.3810+18G>A (n.3810+18G>A)
c.3699+18G>A (n.3699+18G>A)
c.3735+18G>A (n.3735+18G>A)
 ClinVar dbSNP
17g.31233231_31233232delinsGCCA2255570913NF1c.3753+18_3753+19delinsGC (n.3753+18_3753+19delinsGC)
c.1053+18_1053+19delinsGC (n.1053+18_1053+19delinsGC)
c.3738+18_3738+19delinsGC (n.3738+18_3738+19delinsGC)
n.452_453delinsGC
c.3708+18_3708+19delinsGC (n.3708+18_3708+19delinsGC)
c.2706+18_2706+19delinsGC (n.2706+18_2706+19delinsGC)
c.184+18_184+19delinsGC
n.2244+18_2244+19delinsGC
c.3483+18_3483+19delinsGC
c.3810+18_3810+19delinsGC (n.3810+18_3810+19delinsGC)
c.3699+18_3699+19delinsGC (n.3699+18_3699+19delinsGC)
c.3735+18_3735+19delinsGC (n.3735+18_3735+19delinsGC)
17g.31233232delCA625780597NF1c.3753+19del (n.3753+19del)
c.1053+19del (n.1053+19del)
c.3738+19del (n.3738+19del)
n.453del
c.3708+19del (n.3708+19del)
c.2706+19del (n.2706+19del)
c.184+19del
n.2244+19del
c.3483+19del
c.3810+19del (n.3810+19del)
c.3699+19del (n.3699+19del)
c.3735+19del (n.3735+19del)
 ClinVar dbSNP gnomAD v2
17g.31233232C>ACA2637081868NF1c.3753+19C>A (n.3753+19C>A)
c.1053+19C>A (n.1053+19C>A)
c.3738+19C>A (n.3738+19C>A)
n.453C>A
c.3708+19C>A (n.3708+19C>A)
c.2706+19C>A (n.2706+19C>A)
c.184+19C>A
n.2244+19C>A
c.3483+19C>A
c.3810+19C>A (n.3810+19C>A)
c.3699+19C>A (n.3699+19C>A)
c.3735+19C>A (n.3735+19C>A)
 dbSNP gnomAD v4
17g.31233232C=CA2255570915NF1c.3753+19C= (n.3753+19C=)
c.1053+19C= (n.1053+19C=)
c.3738+19C= (n.3738+19C=)
n.453C=
c.3708+19C= (n.3708+19C=)
c.2706+19C= (n.2706+19C=)
c.184+19C=
n.2244+19C=
c.3483+19C=
c.3810+19C= (n.3810+19C=)
c.3699+19C= (n.3699+19C=)
c.3735+19C= (n.3735+19C=)
17g.31233232C>GCA2580093094NF1c.3753+19C>G (n.3753+19C>G)
c.1053+19C>G (n.1053+19C>G)
c.3738+19C>G (n.3738+19C>G)
n.453C>G
c.3708+19C>G (n.3708+19C>G)
c.2706+19C>G (n.2706+19C>G)
c.184+19C>G
n.2244+19C>G
c.3483+19C>G
c.3810+19C>G (n.3810+19C>G)
c.3699+19C>G (n.3699+19C>G)
c.3735+19C>G (n.3735+19C>G)
 ClinVar dbSNP gnomAD v4
17g.31233232C>TCA8486211NF1c.3753+19C>T (n.3753+19C>T)
c.1053+19C>T (n.1053+19C>T)
c.3738+19C>T (n.3738+19C>T)
n.453C>T
c.3708+19C>T (n.3708+19C>T)
c.2706+19C>T (n.2706+19C>T)
c.184+19C>T
n.2244+19C>T
c.3483+19C>T
c.3810+19C>T (n.3810+19C>T)
c.3699+19C>T (n.3699+19C>T)
c.3735+19C>T (n.3735+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233233G>ACA8486212NF1c.3753+20G>A (n.3753+20G>A)
c.1053+20G>A (n.1053+20G>A)
c.3738+20G>A (n.3738+20G>A)
n.454G>A
c.3708+20G>A (n.3708+20G>A)
c.2706+20G>A (n.2706+20G>A)
c.184+20G>A
n.2244+20G>A
c.3483+20G>A
c.3810+20G>A (n.3810+20G>A)
c.3699+20G>A (n.3699+20G>A)
c.3735+20G>A (n.3735+20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31233233G>CCA2637081874NF1c.3753+20G>C (n.3753+20G>C)
c.1053+20G>C (n.1053+20G>C)
c.3738+20G>C (n.3738+20G>C)
n.454G>C
c.3708+20G>C (n.3708+20G>C)
c.2706+20G>C (n.2706+20G>C)
c.184+20G>C
n.2244+20G>C
c.3483+20G>C
c.3810+20G>C (n.3810+20G>C)
c.3699+20G>C (n.3699+20G>C)
c.3735+20G>C (n.3735+20G>C)
 ClinVar gnomAD v4
17g.31233233G=CA2255570916NF1c.3753+20G= (n.3753+20G=)
c.1053+20G= (n.1053+20G=)
c.3738+20G= (n.3738+20G=)
n.454G=
c.3708+20G= (n.3708+20G=)
c.2706+20G= (n.2706+20G=)
c.184+20G=
n.2244+20G=
c.3483+20G=
c.3810+20G= (n.3810+20G=)
c.3699+20G= (n.3699+20G=)
c.3735+20G= (n.3735+20G=)
17g.31233236delCA2637081873NF1c.3753+23del (n.3753+23del)
c.1053+23del (n.1053+23del)
c.3738+23del (n.3738+23del)
n.457del
c.3708+23del (n.3708+23del)
c.2706+23del (n.2706+23del)
c.184+23del
n.2244+23del
c.3483+23del
c.3810+23del (n.3810+23del)
c.3699+23del (n.3699+23del)
c.3735+23del (n.3735+23del)
 gnomAD v4
17g.31233234G>ACA656524016NF1c.3753+21G>A (n.3753+21G>A)
c.1053+21G>A (n.1053+21G>A)
c.3738+21G>A (n.3738+21G>A)
n.455G>A
c.3708+21G>A (n.3708+21G>A)
c.2706+21G>A (n.2706+21G>A)
c.184+21G>A
n.2244+21G>A
c.3483+21G>A
c.3810+21G>A (n.3810+21G>A)
c.3699+21G>A (n.3699+21G>A)
c.3735+21G>A (n.3735+21G>A)
 dbSNP COSMIC
17g.31233234G>CCA2637081877NF1c.3753+21G>C (n.3753+21G>C)
c.1053+21G>C (n.1053+21G>C)
c.3738+21G>C (n.3738+21G>C)
n.455G>C
c.3708+21G>C (n.3708+21G>C)
c.2706+21G>C (n.2706+21G>C)
c.184+21G>C
n.2244+21G>C
c.3483+21G>C
c.3810+21G>C (n.3810+21G>C)
c.3699+21G>C (n.3699+21G>C)
c.3735+21G>C (n.3735+21G>C)
 dbSNP gnomAD v4
17g.31233235G>ACA2733609693NF1c.3753+22G>A (n.3753+22G>A)
c.1053+22G>A (n.1053+22G>A)
c.3738+22G>A (n.3738+22G>A)
n.456G>A
c.3708+22G>A (n.3708+22G>A)
c.2706+22G>A (n.2706+22G>A)
c.184+22G>A
n.2244+22G>A
c.3483+22G>A
c.3810+22G>A (n.3810+22G>A)
c.3699+22G>A (n.3699+22G>A)
c.3735+22G>A (n.3735+22G>A)
 dbSNP
17g.31233235G>CCA2733609731NF1c.3753+22G>C (n.3753+22G>C)
c.1053+22G>C (n.1053+22G>C)
c.3738+22G>C (n.3738+22G>C)
n.456G>C
c.3708+22G>C (n.3708+22G>C)
c.2706+22G>C (n.2706+22G>C)
c.184+22G>C
n.2244+22G>C
c.3483+22G>C
c.3810+22G>C (n.3810+22G>C)
c.3699+22G>C (n.3699+22G>C)
c.3735+22G>C (n.3735+22G>C)
 dbSNP
17g.31233236G>ACA2255570918NF1c.3753+23G>A (n.3753+23G>A)
c.1053+23G>A (n.1053+23G>A)
c.3738+23G>A (n.3738+23G>A)
n.457G>A
c.3708+23G>A (n.3708+23G>A)
c.2706+23G>A (n.2706+23G>A)
c.184+23G>A
n.2244+23G>A
c.3483+23G>A
c.3810+23G>A (n.3810+23G>A)
c.3699+23G>A (n.3699+23G>A)
c.3735+23G>A (n.3735+23G>A)
 dbSNP
17g.31233236G>CCA2733275951NF1c.3753+23G>C (n.3753+23G>C)
c.1053+23G>C (n.1053+23G>C)
c.3738+23G>C (n.3738+23G>C)
n.457G>C
c.3708+23G>C (n.3708+23G>C)
c.2706+23G>C (n.2706+23G>C)
c.184+23G>C
n.2244+23G>C
c.3483+23G>C
c.3810+23G>C (n.3810+23G>C)
c.3699+23G>C (n.3699+23G>C)
c.3735+23G>C (n.3735+23G>C)
 dbSNP
17g.31233236G=CA2255570917NF1c.3753+23G= (n.3753+23G=)
c.1053+23G= (n.1053+23G=)
c.3738+23G= (n.3738+23G=)
n.457G=
c.3708+23G= (n.3708+23G=)
c.2706+23G= (n.2706+23G=)
c.184+23G=
n.2244+23G=
c.3483+23G=
c.3810+23G= (n.3810+23G=)
c.3699+23G= (n.3699+23G=)
c.3735+23G= (n.3735+23G=)
17g.31233237A=CA2255570919NF1c.3753+24A= (n.3753+24A=)
c.1053+24A= (n.1053+24A=)
c.3738+24A= (n.3738+24A=)
n.458A=
c.3708+24A= (n.3708+24A=)
c.2706+24A= (n.2706+24A=)
c.184+24A=
n.2244+24A=
c.3483+24A=
c.3810+24A= (n.3810+24A=)
c.3699+24A= (n.3699+24A=)
c.3735+24A= (n.3735+24A=)
17g.31233237A>GCA2637081882NF1c.3753+24A>G (n.3753+24A>G)
c.1053+24A>G (n.1053+24A>G)
c.3738+24A>G (n.3738+24A>G)
n.458A>G
c.3708+24A>G (n.3708+24A>G)
c.2706+24A>G (n.2706+24A>G)
c.184+24A>G
n.2244+24A>G
c.3483+24A>G
c.3810+24A>G (n.3810+24A>G)
c.3699+24A>G (n.3699+24A>G)
c.3735+24A>G (n.3735+24A>G)
 gnomAD v4
17g.31233237A>TCA8486213NF1c.3753+24A>T (n.3753+24A>T)
c.1053+24A>T (n.1053+24A>T)
c.3738+24A>T (n.3738+24A>T)
n.458A>T
c.3708+24A>T (n.3708+24A>T)
c.2706+24A>T (n.2706+24A>T)
c.184+24A>T
n.2244+24A>T
c.3483+24A>T
c.3810+24A>T (n.3810+24A>T)
c.3699+24A>T (n.3699+24A>T)
c.3735+24A>T (n.3735+24A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233238delCA2637081880NF1c.3753+25del (n.3753+25del)
c.1053+25del (n.1053+25del)
c.3738+25del (n.3738+25del)
n.459del
c.3708+25del (n.3708+25del)
c.2706+25del (n.2706+25del)
c.184+25del
n.2244+25del
c.3483+25del
c.3810+25del (n.3810+25del)
c.3699+25del (n.3699+25del)
c.3735+25del (n.3735+25del)
 gnomAD v4
17g.31233239G>ACA8486214NF1c.3753+26G>A (n.3753+26G>A)
c.1053+26G>A (n.1053+26G>A)
c.3738+26G>A (n.3738+26G>A)
n.460G>A
c.3708+26G>A (n.3708+26G>A)
c.2706+26G>A (n.2706+26G>A)
c.184+26G>A
n.2244+26G>A
c.3483+26G>A
c.3810+26G>A (n.3810+26G>A)
c.3699+26G>A (n.3699+26G>A)
c.3735+26G>A (n.3735+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31233239G>CCA2733210063NF1c.3753+26G>C (n.3753+26G>C)
c.1053+26G>C (n.1053+26G>C)
c.3738+26G>C (n.3738+26G>C)
n.460G>C
c.3708+26G>C (n.3708+26G>C)
c.2706+26G>C (n.2706+26G>C)
c.184+26G>C
n.2244+26G>C
c.3483+26G>C
c.3810+26G>C (n.3810+26G>C)
c.3699+26G>C (n.3699+26G>C)
c.3735+26G>C (n.3735+26G>C)
 dbSNP
17g.31233239G=CA2255570921NF1c.3753+26G= (n.3753+26G=)
c.1053+26G= (n.1053+26G=)
c.3738+26G= (n.3738+26G=)
n.460G=
c.3708+26G= (n.3708+26G=)
c.2706+26G= (n.2706+26G=)
c.184+26G=
n.2244+26G=
c.3483+26G=
c.3810+26G= (n.3810+26G=)
c.3699+26G= (n.3699+26G=)
c.3735+26G= (n.3735+26G=)
17g.31233239G>TCA2637081886NF1c.3753+26G>T (n.3753+26G>T)
c.1053+26G>T (n.1053+26G>T)
c.3738+26G>T (n.3738+26G>T)
n.460G>T
c.3708+26G>T (n.3708+26G>T)
c.2706+26G>T (n.2706+26G>T)
c.184+26G>T
n.2244+26G>T
c.3483+26G>T
c.3810+26G>T (n.3810+26G>T)
c.3699+26G>T (n.3699+26G>T)
c.3735+26G>T (n.3735+26G>T)
 gnomAD v4
17g.31233240A>GCA2733609736NF1c.3753+27A>G (n.3753+27A>G)
c.1053+27A>G (n.1053+27A>G)
c.3738+27A>G (n.3738+27A>G)
n.461A>G
c.3708+27A>G (n.3708+27A>G)
c.2706+27A>G (n.2706+27A>G)
c.184+27A>G
n.2244+27A>G
c.3483+27A>G
c.3810+27A>G (n.3810+27A>G)
c.3699+27A>G (n.3699+27A>G)
c.3735+27A>G (n.3735+27A>G)
 dbSNP
17g.31233241A>CCA2809192257NF1c.3753+28A>C (n.3753+28A>C)
c.1053+28A>C (n.1053+28A>C)
c.3738+28A>C (n.3738+28A>C)
n.462A>C
c.3708+28A>C (n.3708+28A>C)
c.2706+28A>C (n.2706+28A>C)
c.184+28A>C
n.2244+28A>C
c.3483+28A>C
c.3810+28A>C (n.3810+28A>C)
c.3699+28A>C (n.3699+28A>C)
c.3735+28A>C (n.3735+28A>C)
17g.31233242A>TCA2733609738NF1c.3753+29A>T (n.3753+29A>T)
c.1053+29A>T (n.1053+29A>T)
c.3738+29A>T (n.3738+29A>T)
n.463A>T
c.3708+29A>T (n.3708+29A>T)
c.2706+29A>T (n.2706+29A>T)
c.184+29A>T
n.2244+29A>T
c.3483+29A>T
c.3810+29A>T (n.3810+29A>T)
c.3699+29A>T (n.3699+29A>T)
c.3735+29A>T (n.3735+29A>T)
 dbSNP
17g.31233243A>GCA2733609791NF1c.3753+30A>G (n.3753+30A>G)
c.1053+30A>G (n.1053+30A>G)
c.3738+30A>G (n.3738+30A>G)
n.464A>G
c.3708+30A>G (n.3708+30A>G)
c.2706+30A>G (n.2706+30A>G)
c.184+30A>G
n.2244+30A>G
c.3483+30A>G
c.3810+30A>G (n.3810+30A>G)
c.3699+30A>G (n.3699+30A>G)
c.3735+30A>G (n.3735+30A>G)
 dbSNP
17g.31233243A>TCA2733609815NF1c.3753+30A>T (n.3753+30A>T)
c.1053+30A>T (n.1053+30A>T)
c.3738+30A>T (n.3738+30A>T)
n.464A>T
c.3708+30A>T (n.3708+30A>T)
c.2706+30A>T (n.2706+30A>T)
c.184+30A>T
n.2244+30A>T
c.3483+30A>T
c.3810+30A>T (n.3810+30A>T)
c.3699+30A>T (n.3699+30A>T)
c.3735+30A>T (n.3735+30A>T)
 dbSNP
17g.31233244G>ACA2733359639NF1c.3753+31G>A (n.3753+31G>A)
c.1053+31G>A (n.1053+31G>A)
c.3738+31G>A (n.3738+31G>A)
n.465G>A
c.3708+31G>A (n.3708+31G>A)
c.2706+31G>A (n.2706+31G>A)
c.184+31G>A
n.2244+31G>A
c.3483+31G>A
c.3810+31G>A (n.3810+31G>A)
c.3699+31G>A (n.3699+31G>A)
c.3735+31G>A (n.3735+31G>A)
 dbSNP
17g.31233244G>CCA2733359638NF1c.3753+31G>C (n.3753+31G>C)
c.1053+31G>C (n.1053+31G>C)
c.3738+31G>C (n.3738+31G>C)
n.465G>C
c.3708+31G>C (n.3708+31G>C)
c.2706+31G>C (n.2706+31G>C)
c.184+31G>C
n.2244+31G>C
c.3483+31G>C
c.3810+31G>C (n.3810+31G>C)
c.3699+31G>C (n.3699+31G>C)
c.3735+31G>C (n.3735+31G>C)
 dbSNP
17g.31233244G=CA2255570923NF1c.3753+31G= (n.3753+31G=)
c.1053+31G= (n.1053+31G=)
c.3738+31G= (n.3738+31G=)
n.465G=
c.3708+31G= (n.3708+31G=)
c.2706+31G= (n.2706+31G=)
c.184+31G=
n.2244+31G=
c.3483+31G=
c.3810+31G= (n.3810+31G=)
c.3699+31G= (n.3699+31G=)
c.3735+31G= (n.3735+31G=)
17g.31233244G>TCA982966621NF1c.3753+31G>T (n.3753+31G>T)
c.1053+31G>T (n.1053+31G>T)
c.3738+31G>T (n.3738+31G>T)
n.465G>T
c.3708+31G>T (n.3708+31G>T)
c.2706+31G>T (n.2706+31G>T)
c.184+31G>T
n.2244+31G>T
c.3483+31G>T
c.3810+31G>T (n.3810+31G>T)
c.3699+31G>T (n.3699+31G>T)
c.3735+31G>T (n.3735+31G>T)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched