Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31349077_31349168delCA645572259NF1c.7172-43_7220del
c.1754-43_1802del
c.1346-43_1394del
n.3835-43_3883del
c.240-43_288del
c.7220-43_7268del
c.7190-43_7238del
c.7127-43_7175del
c.6125-43_6173del
c.573-43_621del
c.7326-43_7374del
c.333-43_381del
c.7181-43_7229del
c.7157-43_7205del
c.7217-43_7265del
 COSMIC
17g.31349144_31349154delCA2695225461NF1c.7196_7206del (p.Ile2399AsnfsTer13)
c.1778_1788del (p.Ile593AsnfsTer13)
c.1370_1380del (p.Ile457AsnfsTer13)
n.3859_3869del
c.264_274del
c.7244_7254del (p.Ile2415AsnfsTer13)
c.7214_7224del (p.Ile2405AsnfsTer13)
c.7151_7161del (p.Ile2384AsnfsTer13)
c.6149_6159del (p.Ile2050AsnfsTer13)
c.597_607del
c.7350_7360del (n.7350_7360del)
c.357_367del
c.7205_7215del (p.Ile2402AsnfsTer13)
c.7181_7191del (p.Ile2394AsnfsTer13)
c.7241_7251del (p.Ile2414AsnfsTer13)
17g.31349149G>ACA399016709NF1c.7201G>A (p.Ala2401Thr)
c.1783G>A (p.Ala595Thr)
c.1375G>A (p.Ala459Thr)
n.3864G>A
c.269G>A
c.7249G>A (p.Ala2417Thr)
c.7219G>A (p.Ala2407Thr)
c.7156G>A (p.Ala2386Thr)
c.6154G>A (p.Ala2052Thr)
c.602G>A
c.7355G>A (n.7355G>A)
c.362G>A
n.461G>A
c.7210G>A (p.Ala2404Thr)
c.7186G>A (p.Ala2396Thr)
c.7246G>A (p.Ala2416Thr)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
17g.31349149G>CCA399016710NF1c.7201G>C (p.Ala2401Pro)
c.1783G>C (p.Ala595Pro)
c.1375G>C (p.Ala459Pro)
n.3864G>C
c.269G>C
c.7249G>C (p.Ala2417Pro)
c.7219G>C (p.Ala2407Pro)
c.7156G>C (p.Ala2386Pro)
c.6154G>C (p.Ala2052Pro)
c.602G>C
c.7355G>C (n.7355G>C)
c.362G>C
n.461G>C
c.7210G>C (p.Ala2404Pro)
c.7186G>C (p.Ala2396Pro)
c.7246G>C (p.Ala2416Pro)
 ClinVar dbSNP
17g.31349149G=CA2255607711NF1c.7201G= (p.Ala2401=)
c.1783G= (p.Ala595=)
c.1375G= (p.Ala459=)
n.3864G=
c.269G=
c.7249G= (p.Ala2417=)
c.7219G= (p.Ala2407=)
c.7156G= (p.Ala2386=)
c.6154G= (p.Ala2052=)
c.602G=
c.7355G= (n.7355G=)
c.362G=
n.461G=
c.7210G= (p.Ala2404=)
c.7186G= (p.Ala2396=)
c.7246G= (p.Ala2416=)
17g.31349149G>TCA399016711NF1c.7201G>T (p.Ala2401Ser)
c.1783G>T (p.Ala595Ser)
c.1375G>T (p.Ala459Ser)
n.3864G>T
c.269G>T
c.7249G>T (p.Ala2417Ser)
c.7219G>T (p.Ala2407Ser)
c.7156G>T (p.Ala2386Ser)
c.6154G>T (p.Ala2052Ser)
c.602G>T
c.7355G>T (n.7355G>T)
c.362G>T
n.461G>T
c.7210G>T (p.Ala2404Ser)
c.7186G>T (p.Ala2396Ser)
c.7246G>T (p.Ala2416Ser)
17g.31349150C>ACA399016712NF1c.7202C>A (p.Ala2401Glu)
c.1784C>A (p.Ala595Glu)
c.1376C>A (p.Ala459Glu)
n.3865C>A
c.270C>A
c.7250C>A (p.Ala2417Glu)
c.7220C>A (p.Ala2407Glu)
c.7157C>A (p.Ala2386Glu)
c.6155C>A (p.Ala2052Glu)
c.603C>A
c.7356C>A (n.7356C>A)
c.363C>A
n.462C>A
c.7211C>A (p.Ala2404Glu)
c.7187C>A (p.Ala2396Glu)
c.7247C>A (p.Ala2416Glu)
17g.31349150C>GCA399016713NF1c.7202C>G (p.Ala2401Gly)
c.1784C>G (p.Ala595Gly)
c.1376C>G (p.Ala459Gly)
n.3865C>G
c.270C>G
c.7250C>G (p.Ala2417Gly)
c.7220C>G (p.Ala2407Gly)
c.7157C>G (p.Ala2386Gly)
c.6155C>G (p.Ala2052Gly)
c.603C>G
c.7356C>G (n.7356C>G)
c.363C>G
n.462C>G
c.7211C>G (p.Ala2404Gly)
c.7187C>G (p.Ala2396Gly)
c.7247C>G (p.Ala2416Gly)
 ClinVar dbSNP
17g.31349150C>TCA399016714NF1c.7202C>T (p.Ala2401Val)
c.1784C>T (p.Ala595Val)
c.1376C>T (p.Ala459Val)
n.3865C>T
c.270C>T
c.7250C>T (p.Ala2417Val)
c.7220C>T (p.Ala2407Val)
c.7157C>T (p.Ala2386Val)
c.6155C>T (p.Ala2052Val)
c.603C>T
c.7356C>T (n.7356C>T)
c.363C>T
n.462C>T
c.7211C>T (p.Ala2404Val)
c.7187C>T (p.Ala2396Val)
c.7247C>T (p.Ala2416Val)
 dbSNP
17g.31349150dupCA2255607712NF1c.7202dup (p.Arg2402LysfsTer14)
c.1784dup (p.Arg596LysfsTer14)
c.1376dup (p.Arg460LysfsTer14)
n.3865dup
c.270dup
c.7250dup (p.Arg2418LysfsTer14)
c.7220dup (p.Arg2408LysfsTer14)
c.7157dup (p.Arg2387LysfsTer14)
c.6155dup (p.Arg2053LysfsTer14)
c.603dup
c.7356dup (n.7356dup)
c.363dup
c.7211dup (p.Arg2405LysfsTer14)
c.7187dup (p.Arg2397LysfsTer14)
c.7247dup (p.Arg2417LysfsTer14)
 dbSNP
17g.31349151A>CCA499239075NF1c.7203A>C (p.Ala2401=)
c.1785A>C (p.Ala595=)
c.1377A>C (p.Ala459=)
n.3866A>C
c.271A>C
c.7251A>C (p.Ala2417=)
c.7221A>C (p.Ala2407=)
c.7158A>C (p.Ala2386=)
c.6156A>C (p.Ala2052=)
c.604A>C
c.7357A>C (n.7357A>C)
c.364A>C
c.7212A>C (p.Ala2404=)
c.7188A>C (p.Ala2396=)
c.7248A>C (p.Ala2416=)
17g.31349151A>GCA499239076NF1c.7203A>G (p.Ala2401=)
c.1785A>G (p.Ala595=)
c.1377A>G (p.Ala459=)
n.3866A>G
c.271A>G
c.7251A>G (p.Ala2417=)
c.7221A>G (p.Ala2407=)
c.7158A>G (p.Ala2386=)
c.6156A>G (p.Ala2052=)
c.604A>G
c.7357A>G (n.7357A>G)
c.364A>G
c.7212A>G (p.Ala2404=)
c.7188A>G (p.Ala2396=)
c.7248A>G (p.Ala2416=)
 ClinVar
17g.31349151A>TCA499239077NF1c.7203A>T (p.Ala2401=)
c.1785A>T (p.Ala595=)
c.1377A>T (p.Ala459=)
n.3866A>T
c.271A>T
c.7251A>T (p.Ala2417=)
c.7221A>T (p.Ala2407=)
c.7158A>T (p.Ala2386=)
c.6156A>T (p.Ala2052=)
c.604A>T
c.7357A>T (n.7357A>T)
c.364A>T
c.7212A>T (p.Ala2404=)
c.7188A>T (p.Ala2396=)
c.7248A>T (p.Ala2416=)
17g.31349152A=CA2255607713NF1c.7204A= (p.Arg2402=)
c.1786A= (p.Arg596=)
c.1378A= (p.Arg460=)
n.3867A=
c.272A=
c.7252A= (p.Arg2418=)
c.7222A= (p.Arg2408=)
c.7159A= (p.Arg2387=)
c.6157A= (p.Arg2053=)
c.605A=
c.7358A= (n.7358A=)
c.365A=
c.7213A= (p.Arg2405=)
c.7189A= (p.Arg2397=)
c.7249A= (p.Arg2417=)
17g.31349152A>CCA499239078NF1c.7204A>C (p.Arg2402=)
c.1786A>C (p.Arg596=)
c.1378A>C (p.Arg460=)
n.3867A>C
c.272A>C
c.7252A>C (p.Arg2418=)
c.7222A>C (p.Arg2408=)
c.7159A>C (p.Arg2387=)
c.6157A>C (p.Arg2053=)
c.605A>C
c.7358A>C (n.7358A>C)
c.365A>C
c.7213A>C (p.Arg2405=)
c.7189A>C (p.Arg2397=)
c.7249A>C (p.Arg2417=)
 gnomAD v4
17g.31349152A>GCA399016716NF1c.7204A>G (p.Arg2402Gly)
c.1786A>G (p.Arg596Gly)
c.1378A>G (p.Arg460Gly)
n.3867A>G
c.272A>G
c.7252A>G (p.Arg2418Gly)
c.7222A>G (p.Arg2408Gly)
c.7159A>G (p.Arg2387Gly)
c.6157A>G (p.Arg2053Gly)
c.605A>G
c.7358A>G (n.7358A>G)
c.365A>G
c.7213A>G (p.Arg2405Gly)
c.7189A>G (p.Arg2397Gly)
c.7249A>G (p.Arg2417Gly)
 ClinVar dbSNP
17g.31349152A>TCA399016715NF1c.7204A>T (p.Arg2402Ter)
c.1786A>T (p.Arg596Ter)
c.1378A>T (p.Arg460Ter)
n.3867A>T
c.272A>T
c.7252A>T (p.Arg2418Ter)
c.7222A>T (p.Arg2408Ter)
c.7159A>T (p.Arg2387Ter)
c.6157A>T (p.Arg2053Ter)
c.605A>T
c.7358A>T (n.7358A>T)
c.365A>T
c.7213A>T (p.Arg2405Ter)
c.7189A>T (p.Arg2397Ter)
c.7249A>T (p.Arg2417Ter)
 dbSNP
17g.31349153delCA2695225464NF1c.7205del (p.Arg2402LysfsTer10)
c.1787del (p.Arg596LysfsTer10)
c.1379del (p.Arg460LysfsTer10)
n.3868del
c.273del
c.7253del (p.Arg2418LysfsTer10)
c.7223del (p.Arg2408LysfsTer10)
c.7160del (p.Arg2387LysfsTer10)
c.6158del (p.Arg2053LysfsTer10)
c.606del
c.7359del (n.7359del)
c.366del
c.7214del (p.Arg2405LysfsTer10)
c.7190del (p.Arg2397LysfsTer10)
c.7250del (p.Arg2417LysfsTer10)
17g.31349153G>ACA399016717NF1c.7205G>A (p.Arg2402Lys)
c.1787G>A (p.Arg596Lys)
c.1379G>A (p.Arg460Lys)
n.3868G>A
c.273G>A
c.7253G>A (p.Arg2418Lys)
c.7223G>A (p.Arg2408Lys)
c.7160G>A (p.Arg2387Lys)
c.6158G>A (p.Arg2053Lys)
c.606G>A
c.7359G>A (n.7359G>A)
c.366G>A
c.7214G>A (p.Arg2405Lys)
c.7190G>A (p.Arg2397Lys)
c.7250G>A (p.Arg2417Lys)
 ClinVar dbSNP
17g.31349153G>CCA399016718NF1c.7205G>C (p.Arg2402Thr)
c.1787G>C (p.Arg596Thr)
c.1379G>C (p.Arg460Thr)
n.3868G>C
c.273G>C
c.7253G>C (p.Arg2418Thr)
c.7223G>C (p.Arg2408Thr)
c.7160G>C (p.Arg2387Thr)
c.6158G>C (p.Arg2053Thr)
c.606G>C
c.7359G>C (n.7359G>C)
c.366G>C
c.7214G>C (p.Arg2405Thr)
c.7190G>C (p.Arg2397Thr)
c.7250G>C (p.Arg2417Thr)
 dbSNP
17g.31349153G=CA2255607714NF1c.7205G= (p.Arg2402=)
c.1787G= (p.Arg596=)
c.1379G= (p.Arg460=)
n.3868G=
c.273G=
c.7253G= (p.Arg2418=)
c.7223G= (p.Arg2408=)
c.7160G= (p.Arg2387=)
c.6158G= (p.Arg2053=)
c.606G=
c.7359G= (n.7359G=)
c.366G=
c.7214G= (p.Arg2405=)
c.7190G= (p.Arg2397=)
c.7250G= (p.Arg2417=)
17g.31349153G>TCA399016719NF1c.7205G>T (p.Arg2402Ile)
c.1787G>T (p.Arg596Ile)
c.1379G>T (p.Arg460Ile)
n.3868G>T
c.273G>T
c.7253G>T (p.Arg2418Ile)
c.7223G>T (p.Arg2408Ile)
c.7160G>T (p.Arg2387Ile)
c.6158G>T (p.Arg2053Ile)
c.606G>T
c.7359G>T (n.7359G>T)
c.366G>T
c.7214G>T (p.Arg2405Ile)
c.7190G>T (p.Arg2397Ile)
c.7250G>T (p.Arg2417Ile)
 gnomAD v4
17g.31349154A>CCA399016720NF1c.7206A>C (p.Arg2402Ser)
c.1788A>C (p.Arg596Ser)
c.1380A>C (p.Arg460Ser)
n.3869A>C
c.274A>C
c.7254A>C (p.Arg2418Ser)
c.7224A>C (p.Arg2408Ser)
c.7161A>C (p.Arg2387Ser)
c.6159A>C (p.Arg2053Ser)
c.607A>C
c.7360A>C (n.7360A>C)
c.367A>C
c.7215A>C (p.Arg2405Ser)
c.7191A>C (p.Arg2397Ser)
c.7251A>C (p.Arg2417Ser)
17g.31349154A>GCA499239079NF1c.7206A>G (p.Arg2402=)
c.1788A>G (p.Arg596=)
c.1380A>G (p.Arg460=)
n.3869A>G
c.274A>G
c.7254A>G (p.Arg2418=)
c.7224A>G (p.Arg2408=)
c.7161A>G (p.Arg2387=)
c.6159A>G (p.Arg2053=)
c.607A>G
c.7360A>G (n.7360A>G)
c.367A>G
c.7215A>G (p.Arg2405=)
c.7191A>G (p.Arg2397=)
c.7251A>G (p.Arg2417=)
17g.31349154A>TCA399016721NF1c.7206A>T (p.Arg2402Ser)
c.1788A>T (p.Arg596Ser)
c.1380A>T (p.Arg460Ser)
n.3869A>T
c.274A>T
c.7254A>T (p.Arg2418Ser)
c.7224A>T (p.Arg2408Ser)
c.7161A>T (p.Arg2387Ser)
c.6159A>T (p.Arg2053Ser)
c.607A>T
c.7360A>T (n.7360A>T)
c.367A>T
c.7215A>T (p.Arg2405Ser)
c.7191A>T (p.Arg2397Ser)
c.7251A>T (p.Arg2417Ser)
17g.31349155A=CA2255607715NF1c.7207A= (p.Thr2403=)
c.1789A= (p.Thr597=)
c.1381A= (p.Thr461=)
n.3870A=
c.275A=
c.7255A= (p.Thr2419=)
c.7225A= (p.Thr2409=)
c.7162A= (p.Thr2388=)
c.6160A= (p.Thr2054=)
c.608A=
c.7361A= (n.7361A=)
c.368A=
c.7216A= (p.Thr2406=)
c.7192A= (p.Thr2398=)
c.7252A= (p.Thr2418=)
17g.31349155A>CCA399016722NF1c.7207A>C (p.Thr2403Pro)
c.1789A>C (p.Thr597Pro)
c.1381A>C (p.Thr461Pro)
n.3870A>C
c.275A>C
c.7255A>C (p.Thr2419Pro)
c.7225A>C (p.Thr2409Pro)
c.7162A>C (p.Thr2388Pro)
c.6160A>C (p.Thr2054Pro)
c.608A>C
c.7361A>C (n.7361A>C)
c.368A>C
c.7216A>C (p.Thr2406Pro)
c.7192A>C (p.Thr2398Pro)
c.7252A>C (p.Thr2418Pro)
 dbSNP
17g.31349155A>GCA399016723NF1c.7207A>G (p.Thr2403Ala)
c.1789A>G (p.Thr597Ala)
c.1381A>G (p.Thr461Ala)
n.3870A>G
c.275A>G
c.7255A>G (p.Thr2419Ala)
c.7225A>G (p.Thr2409Ala)
c.7162A>G (p.Thr2388Ala)
c.6160A>G (p.Thr2054Ala)
c.608A>G
c.7361A>G (n.7361A>G)
c.368A>G
c.7216A>G (p.Thr2406Ala)
c.7192A>G (p.Thr2398Ala)
c.7252A>G (p.Thr2418Ala)
 ClinVar dbSNP
17g.31349155A>TCA399016724NF1c.7207A>T (p.Thr2403Ser)
c.1789A>T (p.Thr597Ser)
c.1381A>T (p.Thr461Ser)
n.3870A>T
c.275A>T
c.7255A>T (p.Thr2419Ser)
c.7225A>T (p.Thr2409Ser)
c.7162A>T (p.Thr2388Ser)
c.6160A>T (p.Thr2054Ser)
c.608A>T
c.7361A>T (n.7361A>T)
c.368A>T
c.7216A>T (p.Thr2406Ser)
c.7192A>T (p.Thr2398Ser)
c.7252A>T (p.Thr2418Ser)
 dbSNP
17g.31349156_31349157delCA2637077378NF1c.7208_7209del (p.Thr2403SerfsTer12)
c.1790_1791del (p.Thr597SerfsTer12)
c.1382_1383del (p.Thr461SerfsTer12)
n.3871_3872del
c.276_277del
c.7256_7257del (p.Thr2419SerfsTer12)
c.7226_7227del (p.Thr2409SerfsTer12)
c.7163_7164del (p.Thr2388SerfsTer12)
c.6161_6162del (p.Thr2054SerfsTer12)
c.609_610del
c.7362_7363del (n.7362_7363del)
c.369_370del
c.7217_7218del (p.Thr2406SerfsTer12)
c.7193_7194del (p.Thr2398SerfsTer12)
c.7253_7254del (p.Thr2418SerfsTer12)
 gnomAD v4
17g.31349156delCA2499224219NF1c.7208del (p.Thr2403LysfsTer9)
c.1790del (p.Thr597LysfsTer9)
c.1382del (p.Thr461LysfsTer9)
n.3871del
c.276del
c.7256del (p.Thr2419LysfsTer9)
c.7226del (p.Thr2409LysfsTer9)
c.7163del (p.Thr2388LysfsTer9)
c.6161del (p.Thr2054LysfsTer9)
c.609del
c.7362del (n.7362del)
c.369del
c.7217del (p.Thr2406LysfsTer9)
c.7193del (p.Thr2398LysfsTer9)
c.7253del (p.Thr2418LysfsTer9)
 ClinVar dbSNP
17g.31349156C>ACA399016725NF1c.7208C>A (p.Thr2403Lys)
c.1790C>A (p.Thr597Lys)
c.1382C>A (p.Thr461Lys)
n.3871C>A
c.276C>A
c.7256C>A (p.Thr2419Lys)
c.7226C>A (p.Thr2409Lys)
c.7163C>A (p.Thr2388Lys)
c.6161C>A (p.Thr2054Lys)
c.609C>A
c.7362C>A (n.7362C>A)
c.369C>A
c.7217C>A (p.Thr2406Lys)
c.7193C>A (p.Thr2398Lys)
c.7253C>A (p.Thr2418Lys)
 gnomAD v4
17g.31349156C=CA2255607716NF1c.7208C= (p.Thr2403=)
c.1790C= (p.Thr597=)
c.1382C= (p.Thr461=)
n.3871C=
c.276C=
c.7256C= (p.Thr2419=)
c.7226C= (p.Thr2409=)
c.7163C= (p.Thr2388=)
c.6161C= (p.Thr2054=)
c.609C=
c.7362C= (n.7362C=)
c.369C=
c.7217C= (p.Thr2406=)
c.7193C= (p.Thr2398=)
c.7253C= (p.Thr2418=)
17g.31349156C>GCA399016726NF1c.7208C>G (p.Thr2403Arg)
c.1790C>G (p.Thr597Arg)
c.1382C>G (p.Thr461Arg)
n.3871C>G
c.276C>G
c.7256C>G (p.Thr2419Arg)
c.7226C>G (p.Thr2409Arg)
c.7163C>G (p.Thr2388Arg)
c.6161C>G (p.Thr2054Arg)
c.609C>G
c.7362C>G (n.7362C>G)
c.369C>G
c.7217C>G (p.Thr2406Arg)
c.7193C>G (p.Thr2398Arg)
c.7253C>G (p.Thr2418Arg)
 ClinVar dbSNP
17g.31349156C>TCA399016727NF1c.7208C>T (p.Thr2403Ile)
c.1790C>T (p.Thr597Ile)
c.1382C>T (p.Thr461Ile)
n.3871C>T
c.276C>T
c.7256C>T (p.Thr2419Ile)
c.7226C>T (p.Thr2409Ile)
c.7163C>T (p.Thr2388Ile)
c.6161C>T (p.Thr2054Ile)
c.609C>T
c.7362C>T (n.7362C>T)
c.369C>T
c.7217C>T (p.Thr2406Ile)
c.7193C>T (p.Thr2398Ile)
c.7253C>T (p.Thr2418Ile)
 ClinVar dbSNP
17g.31349157A>CCA499239080NF1c.7209A>C (p.Thr2403=)
c.1791A>C (p.Thr597=)
c.1383A>C (p.Thr461=)
n.3872A>C
c.277A>C
c.7257A>C (p.Thr2419=)
c.7227A>C (p.Thr2409=)
c.7164A>C (p.Thr2388=)
c.6162A>C (p.Thr2054=)
c.610A>C
c.7363A>C (n.7363A>C)
c.370A>C
c.7218A>C (p.Thr2406=)
c.7194A>C (p.Thr2398=)
c.7254A>C (p.Thr2418=)
17g.31349157A>GCA499239081NF1c.7209A>G (p.Thr2403=)
c.1791A>G (p.Thr597=)
c.1383A>G (p.Thr461=)
n.3872A>G
c.277A>G
c.7257A>G (p.Thr2419=)
c.7227A>G (p.Thr2409=)
c.7164A>G (p.Thr2388=)
c.6162A>G (p.Thr2054=)
c.610A>G
c.7363A>G (n.7363A>G)
c.370A>G
c.7218A>G (p.Thr2406=)
c.7194A>G (p.Thr2398=)
c.7254A>G (p.Thr2418=)
17g.31349157A>TCA499239082NF1c.7209A>T (p.Thr2403=)
c.1791A>T (p.Thr597=)
c.1383A>T (p.Thr461=)
n.3872A>T
c.277A>T
c.7257A>T (p.Thr2419=)
c.7227A>T (p.Thr2409=)
c.7164A>T (p.Thr2388=)
c.6162A>T (p.Thr2054=)
c.610A>T
c.7363A>T (n.7363A>T)
c.370A>T
c.7218A>T (p.Thr2406=)
c.7194A>T (p.Thr2398=)
c.7254A>T (p.Thr2418=)
17g.31349158G>ACA16615587NF1c.7210G>A (p.Val2404Ile)
c.1792G>A (p.Val598Ile)
c.1384G>A (p.Val462Ile)
n.3873G>A
c.278G>A
c.7258G>A (p.Val2420Ile)
c.7228G>A (p.Val2410Ile)
c.7165G>A (p.Val2389Ile)
c.6163G>A (p.Val2055Ile)
c.611G>A
c.7364G>A (n.7364G>A)
c.371G>A
c.7219G>A (p.Val2407Ile)
c.7195G>A (p.Val2399Ile)
c.7255G>A (p.Val2419Ile)
 ClinVar dbSNP
17g.31349158G>CCA399016728NF1c.7210G>C (p.Val2404Leu)
c.1792G>C (p.Val598Leu)
c.1384G>C (p.Val462Leu)
n.3873G>C
c.278G>C
c.7258G>C (p.Val2420Leu)
c.7228G>C (p.Val2410Leu)
c.7165G>C (p.Val2389Leu)
c.6163G>C (p.Val2055Leu)
c.611G>C
c.7364G>C (n.7364G>C)
c.371G>C
c.7219G>C (p.Val2407Leu)
c.7195G>C (p.Val2399Leu)
c.7255G>C (p.Val2419Leu)
 ClinVar dbSNP gnomAD v4
17g.31349158G=CA2255607717NF1c.7210G= (p.Val2404=)
c.1792G= (p.Val598=)
c.1384G= (p.Val462=)
n.3873G=
c.278G=
c.7258G= (p.Val2420=)
c.7228G= (p.Val2410=)
c.7165G= (p.Val2389=)
c.6163G= (p.Val2055=)
c.611G=
c.7364G= (n.7364G=)
c.371G=
c.7219G= (p.Val2407=)
c.7195G= (p.Val2399=)
c.7255G= (p.Val2419=)
17g.31349158G>TCA399016729NF1c.7210G>T (p.Val2404Phe)
c.1792G>T (p.Val598Phe)
c.1384G>T (p.Val462Phe)
n.3873G>T
c.278G>T
c.7258G>T (p.Val2420Phe)
c.7228G>T (p.Val2410Phe)
c.7165G>T (p.Val2389Phe)
c.6163G>T (p.Val2055Phe)
c.611G>T
c.7364G>T (n.7364G>T)
c.371G>T
c.7219G>T (p.Val2407Phe)
c.7195G>T (p.Val2399Phe)
c.7255G>T (p.Val2419Phe)
17g.31349159T>ACA399016731NF1c.7211T>A (p.Val2404Asp)
c.1793T>A (p.Val598Asp)
c.1385T>A (p.Val462Asp)
n.3874T>A
c.279T>A
c.7259T>A (p.Val2420Asp)
c.7229T>A (p.Val2410Asp)
c.7166T>A (p.Val2389Asp)
c.6164T>A (p.Val2055Asp)
c.612T>A
c.7365T>A (n.7365T>A)
c.372T>A
c.7220T>A (p.Val2407Asp)
c.7196T>A (p.Val2399Asp)
c.7256T>A (p.Val2419Asp)
 dbSNP
17g.31349159T>CCA399016732NF1c.7211T>C (p.Val2404Ala)
c.1793T>C (p.Val598Ala)
c.1385T>C (p.Val462Ala)
n.3874T>C
c.279T>C
c.7259T>C (p.Val2420Ala)
c.7229T>C (p.Val2410Ala)
c.7166T>C (p.Val2389Ala)
c.6164T>C (p.Val2055Ala)
c.612T>C
c.7365T>C (n.7365T>C)
c.372T>C
c.7220T>C (p.Val2407Ala)
c.7196T>C (p.Val2399Ala)
c.7256T>C (p.Val2419Ala)
17g.31349159T>GCA399016730NF1c.7211T>G (p.Val2404Gly)
c.1793T>G (p.Val598Gly)
c.1385T>G (p.Val462Gly)
n.3874T>G
c.279T>G
c.7259T>G (p.Val2420Gly)
c.7229T>G (p.Val2410Gly)
c.7166T>G (p.Val2389Gly)
c.6164T>G (p.Val2055Gly)
c.612T>G
c.7365T>G (n.7365T>G)
c.372T>G
c.7220T>G (p.Val2407Gly)
c.7196T>G (p.Val2399Gly)
c.7256T>G (p.Val2419Gly)
17g.31349160delCA2695225465NF1c.7212del (p.Arg2405GlufsTer7)
c.1794del (p.Arg599GlufsTer7)
c.1386del (p.Arg463GlufsTer7)
n.3875del
c.280del
c.7260del (p.Arg2421GlufsTer7)
c.7230del (p.Arg2411GlufsTer7)
c.7167del (p.Arg2390GlufsTer7)
c.6165del (p.Arg2056GlufsTer7)
c.613del
c.7366del (n.7366del)
c.373del
c.7221del (p.Arg2408GlufsTer7)
c.7197del (p.Arg2400GlufsTer7)
c.7257del (p.Arg2420GlufsTer7)
17g.31349160C>ACA499239083NF1c.7212C>A (p.Val2404=)
c.1794C>A (p.Val598=)
c.1386C>A (p.Val462=)
n.3875C>A
c.280C>A
c.7260C>A (p.Val2420=)
c.7230C>A (p.Val2410=)
c.7167C>A (p.Val2389=)
c.6165C>A (p.Val2055=)
c.613C>A
c.7366C>A (n.7366C>A)
c.373C>A
c.7221C>A (p.Val2407=)
c.7197C>A (p.Val2399=)
c.7257C>A (p.Val2419=)
 dbSNP
17g.31349160C=CA2255607718NF1c.7212C= (p.Val2404=)
c.1794C= (p.Val598=)
c.1386C= (p.Val462=)
n.3875C=
c.280C=
c.7260C= (p.Val2420=)
c.7230C= (p.Val2410=)
c.7167C= (p.Val2389=)
c.6165C= (p.Val2055=)
c.613C=
c.7366C= (n.7366C=)
c.373C=
c.7221C= (p.Val2407=)
c.7197C= (p.Val2399=)
c.7257C= (p.Val2419=)
17g.31349160C>GCA499239084NF1c.7212C>G (p.Val2404=)
c.1794C>G (p.Val598=)
c.1386C>G (p.Val462=)
n.3875C>G
c.280C>G
c.7260C>G (p.Val2420=)
c.7230C>G (p.Val2410=)
c.7167C>G (p.Val2389=)
c.6165C>G (p.Val2055=)
c.613C>G
c.7366C>G (n.7366C>G)
c.373C>G
c.7221C>G (p.Val2407=)
c.7197C>G (p.Val2399=)
c.7257C>G (p.Val2419=)
 dbSNP
17g.31349160C>TCA499239085NF1c.7212C>T (p.Val2404=)
c.1794C>T (p.Val598=)
c.1386C>T (p.Val462=)
n.3875C>T
c.280C>T
c.7260C>T (p.Val2420=)
c.7230C>T (p.Val2410=)
c.7167C>T (p.Val2389=)
c.6165C>T (p.Val2055=)
c.613C>T
c.7366C>T (n.7366C>T)
c.373C>T
c.7221C>T (p.Val2407=)
c.7197C>T (p.Val2399=)
c.7257C>T (p.Val2419=)
 ClinVar dbSNP gnomAD v4
17g.31349161A=CA2255607720NF1c.7213A= (p.Arg2405=)
c.1795A= (p.Arg599=)
c.1387A= (p.Arg463=)
n.3876A=
c.281A=
c.7261A= (p.Arg2421=)
c.7231A= (p.Arg2411=)
c.7168A= (p.Arg2390=)
c.6166A= (p.Arg2056=)
c.614A=
c.7367A= (n.7367A=)
c.374A=
c.7222A= (p.Arg2408=)
c.7198A= (p.Arg2400=)
c.7258A= (p.Arg2420=)
17g.31349161A>CCA499239086NF1c.7213A>C (p.Arg2405=)
c.1795A>C (p.Arg599=)
c.1387A>C (p.Arg463=)
n.3876A>C
c.281A>C
c.7261A>C (p.Arg2421=)
c.7231A>C (p.Arg2411=)
c.7168A>C (p.Arg2390=)
c.6166A>C (p.Arg2056=)
c.614A>C
c.7367A>C (n.7367A>C)
c.374A>C
c.7222A>C (p.Arg2408=)
c.7198A>C (p.Arg2400=)
c.7258A>C (p.Arg2420=)
17g.31349161A>GCA399016734NF1c.7213A>G (p.Arg2405Gly)
c.1795A>G (p.Arg599Gly)
c.1387A>G (p.Arg463Gly)
n.3876A>G
c.281A>G
c.7261A>G (p.Arg2421Gly)
c.7231A>G (p.Arg2411Gly)
c.7168A>G (p.Arg2390Gly)
c.6166A>G (p.Arg2056Gly)
c.614A>G
c.7367A>G (n.7367A>G)
c.374A>G
c.7222A>G (p.Arg2408Gly)
c.7198A>G (p.Arg2400Gly)
c.7258A>G (p.Arg2420Gly)
17g.31349161A>TCA399016733NF1c.7213A>T (p.Arg2405Ter)
c.1795A>T (p.Arg599Ter)
c.1387A>T (p.Arg463Ter)
n.3876A>T
c.281A>T
c.7261A>T (p.Arg2421Ter)
c.7231A>T (p.Arg2411Ter)
c.7168A>T (p.Arg2390Ter)
c.6166A>T (p.Arg2056Ter)
c.614A>T
c.7367A>T (n.7367A>T)
c.374A>T
c.7222A>T (p.Arg2408Ter)
c.7198A>T (p.Arg2400Ter)
c.7258A>T (p.Arg2420Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31349162_31349163delCA2573153820NF1c.7214_7215del (p.Arg2405AsnfsTer10)
c.1796_1797del (p.Arg599AsnfsTer10)
c.1388_1389del (p.Arg463AsnfsTer10)
n.3877_3878del
c.282_283del
c.7262_7263del (p.Arg2421AsnfsTer10)
c.7232_7233del (p.Arg2411AsnfsTer10)
c.7169_7170del (p.Arg2390AsnfsTer10)
c.6167_6168del (p.Arg2056AsnfsTer10)
c.615_616del
c.7368_7369del (n.7368_7369del)
c.375_376del
c.7223_7224del (p.Arg2408AsnfsTer10)
c.7199_7200del (p.Arg2400AsnfsTer10)
c.7259_7260del (p.Arg2420AsnfsTer10)
 ClinVar dbSNP
17g.31349161_31349188delinsAGAATTTTACATACACTACTAACTCTGGCA2255607719NF1c.7213_7240delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2405=)
c.1795_1822delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg599=)
c.1387_1414delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg463=)
n.3876_3903delinsAGAATTTTACATACACTACTAACTCTGG
c.281_308delinsAGAATTTTACATACACTACTAACTCTGG
c.7261_7288delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2421=)
c.7231_7258delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2411=)
c.7168_7195delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2390=)
c.6166_6193delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2056=)
c.614_641delinsAGAATTTTACATACACTACTAACTCTGG
c.7367_7394delinsAGAATTTTACATACACTACTAACTCTGG (n.7367_7394delinsAGAATTTTACATACACTACTAACTCTGG)
c.374_401delinsAGAATTTTACATACACTACTAACTCTGG
c.7222_7249delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2408=)
c.7198_7225delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2400=)
c.7258_7285delinsAGAATTTTACATACACTACTAACTCTGG (p.Arg2420=)
17g.31349162delCA499239087NF1c.7214del (p.Arg2405LysfsTer7)
c.1796del (p.Arg599LysfsTer7)
c.1388del (p.Arg463LysfsTer7)
n.3877del
c.282del
c.7262del (p.Arg2421LysfsTer7)
c.7232del (p.Arg2411LysfsTer7)
c.7169del (p.Arg2390LysfsTer7)
c.6167del (p.Arg2056LysfsTer7)
c.615del
c.7368del (n.7368del)
c.375del
c.7223del (p.Arg2408LysfsTer7)
c.7199del (p.Arg2400LysfsTer7)
c.7259del (p.Arg2420LysfsTer7)
 COSMIC
17g.31349162G>ACA399016735NF1c.7214G>A (p.Arg2405Lys)
c.1796G>A (p.Arg599Lys)
c.1388G>A (p.Arg463Lys)
n.3877G>A
c.282G>A
c.7262G>A (p.Arg2421Lys)
c.7232G>A (p.Arg2411Lys)
c.7169G>A (p.Arg2390Lys)
c.6167G>A (p.Arg2056Lys)
c.615G>A
c.7368G>A (n.7368G>A)
c.375G>A
c.7223G>A (p.Arg2408Lys)
c.7199G>A (p.Arg2400Lys)
c.7259G>A (p.Arg2420Lys)
 dbSNP
17g.31349162G>CCA399016736NF1c.7214G>C (p.Arg2405Thr)
c.1796G>C (p.Arg599Thr)
c.1388G>C (p.Arg463Thr)
n.3877G>C
c.282G>C
c.7262G>C (p.Arg2421Thr)
c.7232G>C (p.Arg2411Thr)
c.7169G>C (p.Arg2390Thr)
c.6167G>C (p.Arg2056Thr)
c.615G>C
c.7368G>C (n.7368G>C)
c.375G>C
c.7223G>C (p.Arg2408Thr)
c.7199G>C (p.Arg2400Thr)
c.7259G>C (p.Arg2420Thr)
 dbSNP gnomAD v4
17g.31349162G>TCA399016737NF1c.7214G>T (p.Arg2405Ile)
c.1796G>T (p.Arg599Ile)
c.1388G>T (p.Arg463Ile)
n.3877G>T
c.282G>T
c.7262G>T (p.Arg2421Ile)
c.7232G>T (p.Arg2411Ile)
c.7169G>T (p.Arg2390Ile)
c.6167G>T (p.Arg2056Ile)
c.615G>T
c.7368G>T (n.7368G>T)
c.375G>T
c.7223G>T (p.Arg2408Ile)
c.7199G>T (p.Arg2400Ile)
c.7259G>T (p.Arg2420Ile)
17g.31349162_31349163delinsGACA2255607721NF1c.7214_7215delinsGA (p.Arg2405=)
c.1796_1797delinsGA (p.Arg599=)
c.1388_1389delinsGA (p.Arg463=)
n.3877_3878delinsGA
c.282_283delinsGA
c.7262_7263delinsGA (p.Arg2421=)
c.7232_7233delinsGA (p.Arg2411=)
c.7169_7170delinsGA (p.Arg2390=)
c.6167_6168delinsGA (p.Arg2056=)
c.615_616delinsGA
c.7368_7369delinsGA (n.7368_7369delinsGA)
c.375_376delinsGA
c.7223_7224delinsGA (p.Arg2408=)
c.7199_7200delinsGA (p.Arg2400=)
c.7259_7260delinsGA (p.Arg2420=)
17g.31349162_31349188delCA891843663NF1c.7214_7240del (p.Arg2405_Val2414delinsIle)
c.1796_1822del (p.Arg599_Val608delinsIle)
c.1388_1414del (p.Arg463_Val472delinsIle)
n.3877_3903del
c.282_308del
c.7262_7288del (p.Arg2421_Val2430delinsIle)
c.7232_7258del (p.Arg2411_Val2420delinsIle)
c.7169_7195del (p.Arg2390_Val2399delinsIle)
c.6167_6193del (p.Arg2056_Val2065delinsIle)
c.615_641del
c.7368_7394del (n.7368_7394del)
c.375_401del
c.7223_7249del (p.Arg2408_Val2417delinsIle)
c.7199_7225del (p.Arg2400_Val2409delinsIle)
c.7259_7285del (p.Arg2420_Val2429delinsIle)
 ClinVar dbSNP
17g.31349163A=CA2255607722NF1c.7215A= (p.Arg2405=)
c.1797A= (p.Arg599=)
c.1389A= (p.Arg463=)
n.3878A=
c.283A=
c.7263A= (p.Arg2421=)
c.7233A= (p.Arg2411=)
c.7170A= (p.Arg2390=)
c.6168A= (p.Arg2056=)
c.616A=
c.7369A= (n.7369A=)
c.376A=
c.7224A= (p.Arg2408=)
c.7200A= (p.Arg2400=)
c.7260A= (p.Arg2420=)
17g.31349163A>CCA399016738NF1c.7215A>C (p.Arg2405Ser)
c.1797A>C (p.Arg599Ser)
c.1389A>C (p.Arg463Ser)
n.3878A>C
c.283A>C
c.7263A>C (p.Arg2421Ser)
c.7233A>C (p.Arg2411Ser)
c.7170A>C (p.Arg2390Ser)
c.6168A>C (p.Arg2056Ser)
c.616A>C
c.7369A>C (n.7369A>C)
c.376A>C
c.7224A>C (p.Arg2408Ser)
c.7200A>C (p.Arg2400Ser)
c.7260A>C (p.Arg2420Ser)
 gnomAD v4
17g.31349163A>GCA499239088NF1c.7215A>G (p.Arg2405=)
c.1797A>G (p.Arg599=)
c.1389A>G (p.Arg463=)
n.3878A>G
c.283A>G
c.7263A>G (p.Arg2421=)
c.7233A>G (p.Arg2411=)
c.7170A>G (p.Arg2390=)
c.6168A>G (p.Arg2056=)
c.616A>G
c.7369A>G (n.7369A>G)
c.376A>G
c.7224A>G (p.Arg2408=)
c.7200A>G (p.Arg2400=)
c.7260A>G (p.Arg2420=)
 ClinVar dbSNP
17g.31349163A>TCA399016739NF1c.7215A>T (p.Arg2405Ser)
c.1797A>T (p.Arg599Ser)
c.1389A>T (p.Arg463Ser)
n.3878A>T
c.283A>T
c.7263A>T (p.Arg2421Ser)
c.7233A>T (p.Arg2411Ser)
c.7170A>T (p.Arg2390Ser)
c.6168A>T (p.Arg2056Ser)
c.616A>T
c.7369A>T (n.7369A>T)
c.376A>T
c.7224A>T (p.Arg2408Ser)
c.7200A>T (p.Arg2400Ser)
c.7260A>T (p.Arg2420Ser)
 ClinVar
17g.31349164delCA10580400NF1c.7216del (p.Ile2406PhefsTer6)
c.1798del (p.Ile600PhefsTer6)
c.1390del (p.Ile464PhefsTer6)
n.3879del
c.284del
c.7264del (p.Ile2422PhefsTer6)
c.7234del (p.Ile2412PhefsTer6)
c.7171del (p.Ile2391PhefsTer6)
c.6169del (p.Ile2057PhefsTer6)
c.617del
c.7370del (n.7370del)
c.377del
c.7225del (p.Ile2409PhefsTer6)
c.7201del (p.Ile2401PhefsTer6)
c.7261del (p.Ile2421PhefsTer6)
 ClinVar dbSNP
17g.31349164A>CCA399016740NF1c.7216A>C (p.Ile2406Leu)
c.1798A>C (p.Ile600Leu)
c.1390A>C (p.Ile464Leu)
n.3879A>C
c.284A>C
c.7264A>C (p.Ile2422Leu)
c.7234A>C (p.Ile2412Leu)
c.7171A>C (p.Ile2391Leu)
c.6169A>C (p.Ile2057Leu)
c.617A>C
c.7370A>C (n.7370A>C)
c.377A>C
c.7225A>C (p.Ile2409Leu)
c.7201A>C (p.Ile2401Leu)
c.7261A>C (p.Ile2421Leu)
17g.31349164A>GCA399016741NF1c.7216A>G (p.Ile2406Val)
c.1798A>G (p.Ile600Val)
c.1390A>G (p.Ile464Val)
n.3879A>G
c.284A>G
c.7264A>G (p.Ile2422Val)
c.7234A>G (p.Ile2412Val)
c.7171A>G (p.Ile2391Val)
c.6169A>G (p.Ile2057Val)
c.617A>G
c.7370A>G (n.7370A>G)
c.377A>G
c.7225A>G (p.Ile2409Val)
c.7201A>G (p.Ile2401Val)
c.7261A>G (p.Ile2421Val)
17g.31349164A>TCA399016742NF1c.7216A>T (p.Ile2406Phe)
c.1798A>T (p.Ile600Phe)
c.1390A>T (p.Ile464Phe)
n.3879A>T
c.284A>T
c.7264A>T (p.Ile2422Phe)
c.7234A>T (p.Ile2412Phe)
c.7171A>T (p.Ile2391Phe)
c.6169A>T (p.Ile2057Phe)
c.617A>T
c.7370A>T (n.7370A>T)
c.377A>T
c.7225A>T (p.Ile2409Phe)
c.7201A>T (p.Ile2401Phe)
c.7261A>T (p.Ile2421Phe)
17g.31349165T>ACA399016743NF1c.7217T>A (p.Ile2406Asn)
c.1799T>A (p.Ile600Asn)
c.1391T>A (p.Ile464Asn)
n.3880T>A
c.285T>A
c.7265T>A (p.Ile2422Asn)
c.7235T>A (p.Ile2412Asn)
c.7172T>A (p.Ile2391Asn)
c.6170T>A (p.Ile2057Asn)
c.618T>A
c.7371T>A (n.7371T>A)
c.378T>A
c.7226T>A (p.Ile2409Asn)
c.7202T>A (p.Ile2401Asn)
c.7262T>A (p.Ile2421Asn)
 dbSNP
17g.31349165T>CCA399016744NF1c.7217T>C (p.Ile2406Thr)
c.1799T>C (p.Ile600Thr)
c.1391T>C (p.Ile464Thr)
n.3880T>C
c.285T>C
c.7265T>C (p.Ile2422Thr)
c.7235T>C (p.Ile2412Thr)
c.7172T>C (p.Ile2391Thr)
c.6170T>C (p.Ile2057Thr)
c.618T>C
c.7371T>C (n.7371T>C)
c.378T>C
c.7226T>C (p.Ile2409Thr)
c.7202T>C (p.Ile2401Thr)
c.7262T>C (p.Ile2421Thr)
17g.31349165T>GCA399016745NF1c.7217T>G (p.Ile2406Ser)
c.1799T>G (p.Ile600Ser)
c.1391T>G (p.Ile464Ser)
n.3880T>G
c.285T>G
c.7265T>G (p.Ile2422Ser)
c.7235T>G (p.Ile2412Ser)
c.7172T>G (p.Ile2391Ser)
c.6170T>G (p.Ile2057Ser)
c.618T>G
c.7371T>G (n.7371T>G)
c.378T>G
c.7226T>G (p.Ile2409Ser)
c.7202T>G (p.Ile2401Ser)
c.7262T>G (p.Ile2421Ser)
 ClinVar
17g.31349168delCA645572262NF1c.7220del (p.Leu2407TyrfsTer5)
c.1802del (p.Leu601TyrfsTer5)
c.1394del (p.Leu465TyrfsTer5)
n.3883del
c.288del
c.7268del (p.Leu2423TyrfsTer5)
c.7238del (p.Leu2413TyrfsTer5)
c.7175del (p.Leu2392TyrfsTer5)
c.6173del (p.Leu2058TyrfsTer5)
c.621del
c.7374del (n.7374del)
c.381del
c.7229del (p.Leu2410TyrfsTer5)
c.7205del (p.Leu2402TyrfsTer5)
c.7265del (p.Leu2422TyrfsTer5)
 COSMIC
17g.31349166_31349583delCA2697559560NF1c.7218_7303+332del
c.1800_1885+332del
c.1392_1477+332del
n.3881_3966+332del
c.286_371+332del
c.7266_7351+332del
c.7236_7321+332del
c.7173_7258+332del
c.6171_6256+332del
c.619_704+332del
c.7372_7457+332del
c.379_464+332del
c.7227_7312+332del
c.7203_7288+332del
c.7263_7348+332del
 ClinVar
17g.31349166T>ACA499239089NF1c.7218T>A (p.Ile2406=)
c.1800T>A (p.Ile600=)
c.1392T>A (p.Ile464=)
n.3881T>A
c.286T>A
c.7266T>A (p.Ile2422=)
c.7236T>A (p.Ile2412=)
c.7173T>A (p.Ile2391=)
c.6171T>A (p.Ile2057=)
c.619T>A
c.7372T>A (n.7372T>A)
c.379T>A
c.7227T>A (p.Ile2409=)
c.7203T>A (p.Ile2401=)
c.7263T>A (p.Ile2421=)
17g.31349166T>CCA499239090NF1c.7218T>C (p.Ile2406=)
c.1800T>C (p.Ile600=)
c.1392T>C (p.Ile464=)
n.3881T>C
c.286T>C
c.7266T>C (p.Ile2422=)
c.7236T>C (p.Ile2412=)
c.7173T>C (p.Ile2391=)
c.6171T>C (p.Ile2057=)
c.619T>C
c.7372T>C (n.7372T>C)
c.379T>C
c.7227T>C (p.Ile2409=)
c.7203T>C (p.Ile2401=)
c.7263T>C (p.Ile2421=)
17g.31349166T>GCA399016746NF1c.7218T>G (p.Ile2406Met)
c.1800T>G (p.Ile600Met)
c.1392T>G (p.Ile464Met)
n.3881T>G
c.286T>G
c.7266T>G (p.Ile2422Met)
c.7236T>G (p.Ile2412Met)
c.7173T>G (p.Ile2391Met)
c.6171T>G (p.Ile2057Met)
c.619T>G
c.7372T>G (n.7372T>G)
c.379T>G
c.7227T>G (p.Ile2409Met)
c.7203T>G (p.Ile2401Met)
c.7263T>G (p.Ile2421Met)
17g.31349167T>ACA399016748NF1c.7219T>A (p.Leu2407Ile)
c.1801T>A (p.Leu601Ile)
c.1393T>A (p.Leu465Ile)
n.3882T>A
c.287T>A
c.7267T>A (p.Leu2423Ile)
c.7237T>A (p.Leu2413Ile)
c.7174T>A (p.Leu2392Ile)
c.6172T>A (p.Leu2058Ile)
c.620T>A
c.7373T>A (n.7373T>A)
c.380T>A
c.7228T>A (p.Leu2410Ile)
c.7204T>A (p.Leu2402Ile)
c.7264T>A (p.Leu2422Ile)
 dbSNP
17g.31349167T>CCA499239091NF1c.7219T>C (p.Leu2407=)
c.1801T>C (p.Leu601=)
c.1393T>C (p.Leu465=)
n.3882T>C
c.287T>C
c.7267T>C (p.Leu2423=)
c.7237T>C (p.Leu2413=)
c.7174T>C (p.Leu2392=)
c.6172T>C (p.Leu2058=)
c.620T>C
c.7373T>C (n.7373T>C)
c.380T>C
c.7228T>C (p.Leu2410=)
c.7204T>C (p.Leu2402=)
c.7264T>C (p.Leu2422=)
 ClinVar dbSNP
17g.31349167T>GCA399016747NF1c.7219T>G (p.Leu2407Val)
c.1801T>G (p.Leu601Val)
c.1393T>G (p.Leu465Val)
n.3882T>G
c.287T>G
c.7267T>G (p.Leu2423Val)
c.7237T>G (p.Leu2413Val)
c.7174T>G (p.Leu2392Val)
c.6172T>G (p.Leu2058Val)
c.620T>G
c.7373T>G (n.7373T>G)
c.380T>G
c.7228T>G (p.Leu2410Val)
c.7204T>G (p.Leu2402Val)
c.7264T>G (p.Leu2422Val)
 ClinVar
17g.31349167T=CA2255607723NF1c.7219T= (p.Leu2407=)
c.1801T= (p.Leu601=)
c.1393T= (p.Leu465=)
n.3882T=
c.287T=
c.7267T= (p.Leu2423=)
c.7237T= (p.Leu2413=)
c.7174T= (p.Leu2392=)
c.6172T= (p.Leu2058=)
c.620T=
c.7373T= (n.7373T=)
c.380T=
c.7228T= (p.Leu2410=)
c.7204T= (p.Leu2402=)
c.7264T= (p.Leu2422=)
17g.31349167_31349171delinsTTACACA2255607724NF1c.7219_7223delinsTTACA (p.Leu2407=)
c.1801_1805delinsTTACA (p.Leu601=)
c.1393_1397delinsTTACA (p.Leu465=)
n.3882_3886delinsTTACA
c.287_291delinsTTACA
c.7267_7271delinsTTACA (p.Leu2423=)
c.7237_7241delinsTTACA (p.Leu2413=)
c.7174_7178delinsTTACA (p.Leu2392=)
c.6172_6176delinsTTACA (p.Leu2058=)
c.620_624delinsTTACA
c.7373_7377delinsTTACA (n.7373_7377delinsTTACA)
c.380_384delinsTTACA
c.7228_7232delinsTTACA (p.Leu2410=)
c.7204_7208delinsTTACA (p.Leu2402=)
c.7264_7268delinsTTACA (p.Leu2422=)
17g.31349168T>ACA399016749NF1c.7220T>A (p.Leu2407Ter)
c.1802T>A (p.Leu601Ter)
c.1394T>A (p.Leu465Ter)
n.3883T>A
c.288T>A
c.7268T>A (p.Leu2423Ter)
c.7238T>A (p.Leu2413Ter)
c.7175T>A (p.Leu2392Ter)
c.6173T>A (p.Leu2058Ter)
c.621T>A
c.7374T>A (n.7374T>A)
c.381T>A
c.7229T>A (p.Leu2410Ter)
c.7205T>A (p.Leu2402Ter)
c.7265T>A (p.Leu2422Ter)
 ClinVar dbSNP
17g.31349168T>CCA8487530NF1c.7220T>C (p.Leu2407Ser)
c.1802T>C (p.Leu601Ser)
c.1394T>C (p.Leu465Ser)
n.3883T>C
c.288T>C
c.7268T>C (p.Leu2423Ser)
c.7238T>C (p.Leu2413Ser)
c.7175T>C (p.Leu2392Ser)
c.6173T>C (p.Leu2058Ser)
c.621T>C
c.7374T>C (n.7374T>C)
c.381T>C
c.7229T>C (p.Leu2410Ser)
c.7205T>C (p.Leu2402Ser)
c.7265T>C (p.Leu2422Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31349168T>GCA399016750NF1c.7220T>G (p.Leu2407Ter)
c.1802T>G (p.Leu601Ter)
c.1394T>G (p.Leu465Ter)
n.3883T>G
c.288T>G
c.7268T>G (p.Leu2423Ter)
c.7238T>G (p.Leu2413Ter)
c.7175T>G (p.Leu2392Ter)
c.6173T>G (p.Leu2058Ter)
c.621T>G
c.7374T>G (n.7374T>G)
c.381T>G
c.7229T>G (p.Leu2410Ter)
c.7205T>G (p.Leu2402Ter)
c.7265T>G (p.Leu2422Ter)
17g.31349168T=CA2255607726NF1c.7220T= (p.Leu2407=)
c.1802T= (p.Leu601=)
c.1394T= (p.Leu465=)
n.3883T=
c.288T=
c.7268T= (p.Leu2423=)
c.7238T= (p.Leu2413=)
c.7175T= (p.Leu2392=)
c.6173T= (p.Leu2058=)
c.621T=
c.7374T= (n.7374T=)
c.381T=
c.7229T= (p.Leu2410=)
c.7205T= (p.Leu2402=)
c.7265T= (p.Leu2422=)
17g.31349172_31349175delCA2255607725NF1c.7224_7227del (p.Thr2409TyrfsTer2)
c.1806_1809del (p.Thr603TyrfsTer2)
c.1398_1401del (p.Thr467TyrfsTer2)
n.3887_3890del
c.292_295del
c.7272_7275del (p.Thr2425TyrfsTer2)
c.7242_7245del (p.Thr2415TyrfsTer2)
c.7179_7182del (p.Thr2394TyrfsTer2)
c.6177_6180del (p.Thr2060TyrfsTer2)
c.625_628del
c.7378_7381del (n.7378_7381del)
c.385_388del
c.7233_7236del (p.Thr2412TyrfsTer2)
c.7209_7212del (p.Thr2404TyrfsTer2)
c.7269_7272del (p.Thr2424TyrfsTer2)
 ClinVar dbSNP
17g.31349169A>CCA399016751NF1c.7221A>C (p.Leu2407Phe)
c.1803A>C (p.Leu601Phe)
c.1395A>C (p.Leu465Phe)
n.3884A>C
c.289A>C
c.7269A>C (p.Leu2423Phe)
c.7239A>C (p.Leu2413Phe)
c.7176A>C (p.Leu2392Phe)
c.6174A>C (p.Leu2058Phe)
c.622A>C
c.7375A>C (n.7375A>C)
c.382A>C
c.7230A>C (p.Leu2410Phe)
c.7206A>C (p.Leu2402Phe)
c.7266A>C (p.Leu2422Phe)
 dbSNP
17g.31349169A>GCA499239092NF1c.7221A>G (p.Leu2407=)
c.1803A>G (p.Leu601=)
c.1395A>G (p.Leu465=)
n.3884A>G
c.289A>G
c.7269A>G (p.Leu2423=)
c.7239A>G (p.Leu2413=)
c.7176A>G (p.Leu2392=)
c.6174A>G (p.Leu2058=)
c.622A>G
c.7375A>G (n.7375A>G)
c.382A>G
c.7230A>G (p.Leu2410=)
c.7206A>G (p.Leu2402=)
c.7266A>G (p.Leu2422=)
 COSMIC COSMIC
17g.31349169A>TCA399016752NF1c.7221A>T (p.Leu2407Phe)
c.1803A>T (p.Leu601Phe)
c.1395A>T (p.Leu465Phe)
n.3884A>T
c.289A>T
c.7269A>T (p.Leu2423Phe)
c.7239A>T (p.Leu2413Phe)
c.7176A>T (p.Leu2392Phe)
c.6174A>T (p.Leu2058Phe)
c.622A>T
c.7375A>T (n.7375A>T)
c.382A>T
c.7230A>T (p.Leu2410Phe)
c.7206A>T (p.Leu2402Phe)
c.7266A>T (p.Leu2422Phe)
 dbSNP
17g.31349170C>ACA399016753NF1c.7222C>A (p.His2408Asn)
c.1804C>A (p.His602Asn)
c.1396C>A (p.His466Asn)
n.3885C>A
c.290C>A
c.7270C>A (p.His2424Asn)
c.7240C>A (p.His2414Asn)
c.7177C>A (p.His2393Asn)
c.6175C>A (p.His2059Asn)
c.623C>A
c.7376C>A (n.7376C>A)
c.383C>A
c.7231C>A (p.His2411Asn)
c.7207C>A (p.His2403Asn)
c.7267C>A (p.His2423Asn)
17g.31349170C=CA2255607727NF1c.7222C= (p.His2408=)
c.1804C= (p.His602=)
c.1396C= (p.His466=)
n.3885C=
c.290C=
c.7270C= (p.His2424=)
c.7240C= (p.His2414=)
c.7177C= (p.His2393=)
c.6175C= (p.His2059=)
c.623C=
c.7376C= (n.7376C=)
c.383C=
c.7231C= (p.His2411=)
c.7207C= (p.His2403=)
c.7267C= (p.His2423=)
17g.31349170C>GCA399016754NF1c.7222C>G (p.His2408Asp)
c.1804C>G (p.His602Asp)
c.1396C>G (p.His466Asp)
n.3885C>G
c.290C>G
c.7270C>G (p.His2424Asp)
c.7240C>G (p.His2414Asp)
c.7177C>G (p.His2393Asp)
c.6175C>G (p.His2059Asp)
c.623C>G
c.7376C>G (n.7376C>G)
c.383C>G
c.7231C>G (p.His2411Asp)
c.7207C>G (p.His2403Asp)
c.7267C>G (p.His2423Asp)
 ClinVar dbSNP
17g.31349170C>TCA399016755NF1c.7222C>T (p.His2408Tyr)
c.1804C>T (p.His602Tyr)
c.1396C>T (p.His466Tyr)
n.3885C>T
c.290C>T
c.7270C>T (p.His2424Tyr)
c.7240C>T (p.His2414Tyr)
c.7177C>T (p.His2393Tyr)
c.6175C>T (p.His2059Tyr)
c.623C>T
c.7376C>T (n.7376C>T)
c.383C>T
c.7231C>T (p.His2411Tyr)
c.7207C>T (p.His2403Tyr)
c.7267C>T (p.His2423Tyr)
 ClinVar dbSNP gnomAD v4
17g.31349171A=CA2255607728NF1c.7223A= (p.His2408=)
c.1805A= (p.His602=)
c.1397A= (p.His466=)
n.3886A=
c.291A=
c.7271A= (p.His2424=)
c.7241A= (p.His2414=)
c.7178A= (p.His2393=)
c.6176A= (p.His2059=)
c.624A=
c.7377A= (n.7377A=)
c.384A=
c.7232A= (p.His2411=)
c.7208A= (p.His2403=)
c.7268A= (p.His2423=)
17g.31349171A>CCA399016756NF1c.7223A>C (p.His2408Pro)
c.1805A>C (p.His602Pro)
c.1397A>C (p.His466Pro)
n.3886A>C
c.291A>C
c.7271A>C (p.His2424Pro)
c.7241A>C (p.His2414Pro)
c.7178A>C (p.His2393Pro)
c.6176A>C (p.His2059Pro)
c.624A>C
c.7377A>C (n.7377A>C)
c.384A>C
c.7232A>C (p.His2411Pro)
c.7208A>C (p.His2403Pro)
c.7268A>C (p.His2423Pro)
 ClinVar dbSNP
17g.31349171A>GCA10580401NF1c.7223A>G (p.His2408Arg)
c.1805A>G (p.His602Arg)
c.1397A>G (p.His466Arg)
n.3886A>G
c.291A>G
c.7271A>G (p.His2424Arg)
c.7241A>G (p.His2414Arg)
c.7178A>G (p.His2393Arg)
c.6176A>G (p.His2059Arg)
c.624A>G
c.7377A>G (n.7377A>G)
c.384A>G
c.7232A>G (p.His2411Arg)
c.7208A>G (p.His2403Arg)
c.7268A>G (p.His2423Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31349171A>TCA399016757NF1c.7223A>T (p.His2408Leu)
c.1805A>T (p.His602Leu)
c.1397A>T (p.His466Leu)
n.3886A>T
c.291A>T
c.7271A>T (p.His2424Leu)
c.7241A>T (p.His2414Leu)
c.7178A>T (p.His2393Leu)
c.6176A>T (p.His2059Leu)
c.624A>T
c.7377A>T (n.7377A>T)
c.384A>T
c.7232A>T (p.His2411Leu)
c.7208A>T (p.His2403Leu)
c.7268A>T (p.His2423Leu)
 dbSNP
17g.31349172T>ACA399016758NF1c.7224T>A (p.His2408Gln)
c.1806T>A (p.His602Gln)
c.1398T>A (p.His466Gln)
n.3887T>A
c.292T>A
c.7272T>A (p.His2424Gln)
c.7242T>A (p.His2414Gln)
c.7179T>A (p.His2393Gln)
c.6177T>A (p.His2059Gln)
c.625T>A
c.7378T>A (n.7378T>A)
c.385T>A
c.7233T>A (p.His2411Gln)
c.7209T>A (p.His2403Gln)
c.7269T>A (p.His2423Gln)
 dbSNP
17g.31349172T>CCA499239093NF1c.7224T>C (p.His2408=)
c.1806T>C (p.His602=)
c.1398T>C (p.His466=)
n.3887T>C
c.292T>C
c.7272T>C (p.His2424=)
c.7242T>C (p.His2414=)
c.7179T>C (p.His2393=)
c.6177T>C (p.His2059=)
c.625T>C
c.7378T>C (n.7378T>C)
c.385T>C
c.7233T>C (p.His2411=)
c.7209T>C (p.His2403=)
c.7269T>C (p.His2423=)
17g.31349172T>GCA399016759NF1c.7224T>G (p.His2408Gln)
c.1806T>G (p.His602Gln)
c.1398T>G (p.His466Gln)
n.3887T>G
c.292T>G
c.7272T>G (p.His2424Gln)
c.7242T>G (p.His2414Gln)
c.7179T>G (p.His2393Gln)
c.6177T>G (p.His2059Gln)
c.625T>G
c.7378T>G (n.7378T>G)
c.385T>G
c.7233T>G (p.His2411Gln)
c.7209T>G (p.His2403Gln)
c.7269T>G (p.His2423Gln)
17g.31349173A>CCA399016760NF1c.7225A>C (p.Thr2409Pro)
c.1807A>C (p.Thr603Pro)
c.1399A>C (p.Thr467Pro)
n.3888A>C
c.293A>C
c.7273A>C (p.Thr2425Pro)
c.7243A>C (p.Thr2415Pro)
c.7180A>C (p.Thr2394Pro)
c.6178A>C (p.Thr2060Pro)
c.626A>C
c.7379A>C (n.7379A>C)
c.386A>C
c.7234A>C (p.Thr2412Pro)
c.7210A>C (p.Thr2404Pro)
c.7270A>C (p.Thr2424Pro)
17g.31349173A>GCA399016762NF1c.7225A>G (p.Thr2409Ala)
c.1807A>G (p.Thr603Ala)
c.1399A>G (p.Thr467Ala)
n.3888A>G
c.293A>G
c.7273A>G (p.Thr2425Ala)
c.7243A>G (p.Thr2415Ala)
c.7180A>G (p.Thr2394Ala)
c.6178A>G (p.Thr2060Ala)
c.626A>G
c.7379A>G (n.7379A>G)
c.386A>G
c.7234A>G (p.Thr2412Ala)
c.7210A>G (p.Thr2404Ala)
c.7270A>G (p.Thr2424Ala)
 ClinVar dbSNP
17g.31349173A>TCA399016761NF1c.7225A>T (p.Thr2409Ser)
c.1807A>T (p.Thr603Ser)
c.1399A>T (p.Thr467Ser)
n.3888A>T
c.293A>T
c.7273A>T (p.Thr2425Ser)
c.7243A>T (p.Thr2415Ser)
c.7180A>T (p.Thr2394Ser)
c.6178A>T (p.Thr2060Ser)
c.626A>T
c.7379A>T (n.7379A>T)
c.386A>T
c.7234A>T (p.Thr2412Ser)
c.7210A>T (p.Thr2404Ser)
c.7270A>T (p.Thr2424Ser)
 dbSNP
17g.31349175_31349176delCA658761014NF1c.7227_7228del (p.Leu2410ThrfsTer5)
c.1809_1810del (p.Leu604ThrfsTer5)
c.1401_1402del (p.Leu468ThrfsTer5)
n.3890_3891del
c.295_296del
c.7275_7276del (p.Leu2426ThrfsTer5)
c.7245_7246del (p.Leu2416ThrfsTer5)
c.7182_7183del (p.Leu2395ThrfsTer5)
c.6180_6181del (p.Leu2061ThrfsTer5)
c.628_629del
c.7381_7382del (n.7381_7382del)
c.388_389del
c.7236_7237del (p.Leu2413ThrfsTer5)
c.7212_7213del (p.Leu2405ThrfsTer5)
c.7272_7273del (p.Leu2425ThrfsTer5)
17g.31349174C>ACA399016763NF1c.7226C>A (p.Thr2409Lys)
c.1808C>A (p.Thr603Lys)
c.1400C>A (p.Thr467Lys)
n.3889C>A
c.294C>A
c.7274C>A (p.Thr2425Lys)
c.7244C>A (p.Thr2415Lys)
c.7181C>A (p.Thr2394Lys)
c.6179C>A (p.Thr2060Lys)
c.627C>A
c.7380C>A (n.7380C>A)
c.387C>A
c.7235C>A (p.Thr2412Lys)
c.7211C>A (p.Thr2404Lys)
c.7271C>A (p.Thr2424Lys)
 ClinVar dbSNP
17g.31349174C>GCA399016764NF1c.7226C>G (p.Thr2409Arg)
c.1808C>G (p.Thr603Arg)
c.1400C>G (p.Thr467Arg)
n.3889C>G
c.294C>G
c.7274C>G (p.Thr2425Arg)
c.7244C>G (p.Thr2415Arg)
c.7181C>G (p.Thr2394Arg)
c.6179C>G (p.Thr2060Arg)
c.627C>G
c.7380C>G (n.7380C>G)
c.387C>G
c.7235C>G (p.Thr2412Arg)
c.7211C>G (p.Thr2404Arg)
c.7271C>G (p.Thr2424Arg)
 dbSNP
17g.31349174C>TCA399016765NF1c.7226C>T (p.Thr2409Ile)
c.1808C>T (p.Thr603Ile)
c.1400C>T (p.Thr467Ile)
n.3889C>T
c.294C>T
c.7274C>T (p.Thr2425Ile)
c.7244C>T (p.Thr2415Ile)
c.7181C>T (p.Thr2394Ile)
c.6179C>T (p.Thr2060Ile)
c.627C>T
c.7380C>T (n.7380C>T)
c.387C>T
c.7235C>T (p.Thr2412Ile)
c.7211C>T (p.Thr2404Ile)
c.7271C>T (p.Thr2424Ile)
 dbSNP
17g.31349174_31349177delinsCACTCA2255607729NF1c.7226_7229delinsCACT (p.Thr2409=)
c.1808_1811delinsCACT (p.Thr603=)
c.1400_1403delinsCACT (p.Thr467=)
n.3889_3892delinsCACT
c.294_297delinsCACT
c.7274_7277delinsCACT (p.Thr2425=)
c.7244_7247delinsCACT (p.Thr2415=)
c.7181_7184delinsCACT (p.Thr2394=)
c.6179_6182delinsCACT (p.Thr2060=)
c.627_630delinsCACT
c.7380_7383delinsCACT (n.7380_7383delinsCACT)
c.387_390delinsCACT
c.7235_7238delinsCACT (p.Thr2412=)
c.7211_7214delinsCACT (p.Thr2404=)
c.7271_7274delinsCACT (p.Thr2424=)
17g.31349175A=CA2255607730NF1c.7227A= (p.Thr2409=)
c.1809A= (p.Thr603=)
c.1401A= (p.Thr467=)
n.3890A=
c.295A=
c.7275A= (p.Thr2425=)
c.7245A= (p.Thr2415=)
c.7182A= (p.Thr2394=)
c.6180A= (p.Thr2060=)
c.628A=
c.7381A= (n.7381A=)
c.388A=
c.7236A= (p.Thr2412=)
c.7212A= (p.Thr2404=)
c.7272A= (p.Thr2424=)
17g.31349175A>CCA499239094NF1c.7227A>C (p.Thr2409=)
c.1809A>C (p.Thr603=)
c.1401A>C (p.Thr467=)
n.3890A>C
c.295A>C
c.7275A>C (p.Thr2425=)
c.7245A>C (p.Thr2415=)
c.7182A>C (p.Thr2394=)
c.6180A>C (p.Thr2060=)
c.628A>C
c.7381A>C (n.7381A>C)
c.388A>C
c.7236A>C (p.Thr2412=)
c.7212A>C (p.Thr2404=)
c.7272A>C (p.Thr2424=)
17g.31349175A>GCA8487531NF1c.7227A>G (p.Thr2409=)
c.1809A>G (p.Thr603=)
c.1401A>G (p.Thr467=)
n.3890A>G
c.295A>G
c.7275A>G (p.Thr2425=)
c.7245A>G (p.Thr2415=)
c.7182A>G (p.Thr2394=)
c.6180A>G (p.Thr2060=)
c.628A>G
c.7381A>G (n.7381A>G)
c.388A>G
c.7236A>G (p.Thr2412=)
c.7212A>G (p.Thr2404=)
c.7272A>G (p.Thr2424=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31349175A>TCA499239095NF1c.7227A>T (p.Thr2409=)
c.1809A>T (p.Thr603=)
c.1401A>T (p.Thr467=)
n.3890A>T
c.295A>T
c.7275A>T (p.Thr2425=)
c.7245A>T (p.Thr2415=)
c.7182A>T (p.Thr2394=)
c.6180A>T (p.Thr2060=)
c.628A>T
c.7381A>T (n.7381A>T)
c.388A>T
c.7236A>T (p.Thr2412=)
c.7212A>T (p.Thr2404=)
c.7272A>T (p.Thr2424=)
 dbSNP
17g.31349179_31349181delCA658658600NF1c.7231_7233del (p.Leu2411del)
c.1813_1815del (p.Leu605del)
c.1405_1407del (p.Leu469del)
n.3894_3896del
c.299_301del
c.7279_7281del (p.Leu2427del)
c.7249_7251del (p.Leu2417del)
c.7186_7188del (p.Leu2396del)
c.6184_6186del (p.Leu2062del)
c.632_634del
c.7385_7387del (n.7385_7387del)
c.392_394del
c.7240_7242del (p.Leu2414del)
c.7216_7218del (p.Leu2406del)
c.7276_7278del (p.Leu2426del)
 ClinVar dbSNP gnomAD v4
17g.31349176C>ACA399016766NF1c.7228C>A (p.Leu2410Ile)
c.1810C>A (p.Leu604Ile)
c.1402C>A (p.Leu468Ile)
n.3891C>A
c.296C>A
c.7276C>A (p.Leu2426Ile)
c.7246C>A (p.Leu2416Ile)
c.7183C>A (p.Leu2395Ile)
c.6181C>A (p.Leu2061Ile)
c.629C>A
c.7382C>A (n.7382C>A)
c.389C>A
c.7237C>A (p.Leu2413Ile)
c.7213C>A (p.Leu2405Ile)
c.7273C>A (p.Leu2425Ile)
 dbSNP
17g.31349176C=CA2255607731NF1c.7228C= (p.Leu2410=)
c.1810C= (p.Leu604=)
c.1402C= (p.Leu468=)
n.3891C=
c.296C=
c.7276C= (p.Leu2426=)
c.7246C= (p.Leu2416=)
c.7183C= (p.Leu2395=)
c.6181C= (p.Leu2061=)
c.629C=
c.7382C= (n.7382C=)
c.389C=
c.7237C= (p.Leu2413=)
c.7213C= (p.Leu2405=)
c.7273C= (p.Leu2425=)
17g.31349176C>GCA399016767NF1c.7228C>G (p.Leu2410Val)
c.1810C>G (p.Leu604Val)
c.1402C>G (p.Leu468Val)
n.3891C>G
c.296C>G
c.7276C>G (p.Leu2426Val)
c.7246C>G (p.Leu2416Val)
c.7183C>G (p.Leu2395Val)
c.6181C>G (p.Leu2061Val)
c.629C>G
c.7382C>G (n.7382C>G)
c.389C>G
c.7237C>G (p.Leu2413Val)
c.7213C>G (p.Leu2405Val)
c.7273C>G (p.Leu2425Val)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.31349176C>TCA188027NF1c.7228C>T (p.Leu2410=)
c.1810C>T (p.Leu604=)
c.1402C>T (p.Leu468=)
n.3891C>T
c.296C>T
c.7276C>T (p.Leu2426=)
c.7246C>T (p.Leu2416=)
c.7183C>T (p.Leu2395=)
c.6181C>T (p.Leu2061=)
c.629C>T
c.7382C>T (n.7382C>T)
c.389C>T
c.7237C>T (p.Leu2413=)
c.7213C>T (p.Leu2405=)
c.7273C>T (p.Leu2425=)
 ClinVar dbSNP gnomAD v4
17g.31349177T>ACA399016768NF1c.7229T>A (p.Leu2410Gln)
c.1811T>A (p.Leu604Gln)
c.1403T>A (p.Leu468Gln)
n.3892T>A
c.297T>A
c.7277T>A (p.Leu2426Gln)
c.7247T>A (p.Leu2416Gln)
c.7184T>A (p.Leu2395Gln)
c.6182T>A (p.Leu2061Gln)
c.630T>A
c.7383T>A (n.7383T>A)
c.390T>A
c.7238T>A (p.Leu2413Gln)
c.7214T>A (p.Leu2405Gln)
c.7274T>A (p.Leu2425Gln)
 dbSNP
17g.31349177T>CCA399016769NF1c.7229T>C (p.Leu2410Pro)
c.1811T>C (p.Leu604Pro)
c.1403T>C (p.Leu468Pro)
n.3892T>C
c.297T>C
c.7277T>C (p.Leu2426Pro)
c.7247T>C (p.Leu2416Pro)
c.7184T>C (p.Leu2395Pro)
c.6182T>C (p.Leu2061Pro)
c.630T>C
c.7383T>C (n.7383T>C)
c.390T>C
c.7238T>C (p.Leu2413Pro)
c.7214T>C (p.Leu2405Pro)
c.7274T>C (p.Leu2425Pro)
 ClinVar dbSNP COSMIC
17g.31349177T>GCA399016770NF1c.7229T>G (p.Leu2410Arg)
c.1811T>G (p.Leu604Arg)
c.1403T>G (p.Leu468Arg)
n.3892T>G
c.297T>G
c.7277T>G (p.Leu2426Arg)
c.7247T>G (p.Leu2416Arg)
c.7184T>G (p.Leu2395Arg)
c.6182T>G (p.Leu2061Arg)
c.630T>G
c.7383T>G (n.7383T>G)
c.390T>G
c.7238T>G (p.Leu2413Arg)
c.7214T>G (p.Leu2405Arg)
c.7274T>G (p.Leu2425Arg)
17g.31349177_31349180dupCA916080699NF1c.7229_7232dup (p.Leu2413AsnfsTer4)
c.1811_1814dup (p.Leu607AsnfsTer4)
c.1403_1406dup (p.Leu471AsnfsTer4)
n.3892_3895dup
c.297_300dup
c.7277_7280dup (p.Leu2429AsnfsTer4)
c.7247_7250dup (p.Leu2419AsnfsTer4)
c.7184_7187dup (p.Leu2398AsnfsTer4)
c.6182_6185dup (p.Leu2064AsnfsTer4)
c.630_633dup
c.7383_7386dup (n.7383_7386dup)
c.390_393dup
c.7238_7241dup (p.Leu2416AsnfsTer4)
c.7214_7217dup (p.Leu2408AsnfsTer4)
c.7274_7277dup (p.Leu2428AsnfsTer4)
 ClinVar dbSNP
17g.31349177_31349234delCA2580093324NF1c.7229_7286del (p.Leu2410ProfsTer5)
c.1811_1868del (p.Leu604ProfsTer5)
c.1403_1460del (p.Leu468ProfsTer5)
n.3892_3949del
c.297_354del
c.7277_7334del (p.Leu2426ProfsTer5)
c.7247_7304del (p.Leu2416ProfsTer5)
c.7184_7241del (p.Leu2395ProfsTer5)
c.6182_6239del (p.Leu2061ProfsTer5)
c.630_687del
c.7383_7440del (n.7383_7440del)
c.390_447del
c.7238_7295del (p.Leu2413ProfsTer5)
c.7214_7271del (p.Leu2405ProfsTer5)
c.7274_7331del (p.Leu2425ProfsTer5)
 ClinVar
17g.31349178A>CCA499239096NF1c.7230A>C (p.Leu2410=)
c.1812A>C (p.Leu604=)
c.1404A>C (p.Leu468=)
n.3893A>C
c.298A>C
c.7278A>C (p.Leu2426=)
c.7248A>C (p.Leu2416=)
c.7185A>C (p.Leu2395=)
c.6183A>C (p.Leu2061=)
c.631A>C
c.7384A>C (n.7384A>C)
c.391A>C
c.7239A>C (p.Leu2413=)
c.7215A>C (p.Leu2405=)
c.7275A>C (p.Leu2425=)
 dbSNP
17g.31349178A>GCA499239097NF1c.7230A>G (p.Leu2410=)
c.1812A>G (p.Leu604=)
c.1404A>G (p.Leu468=)
n.3893A>G
c.298A>G
c.7278A>G (p.Leu2426=)
c.7248A>G (p.Leu2416=)
c.7185A>G (p.Leu2395=)
c.6183A>G (p.Leu2061=)
c.631A>G
c.7384A>G (n.7384A>G)
c.391A>G
c.7239A>G (p.Leu2413=)
c.7215A>G (p.Leu2405=)
c.7275A>G (p.Leu2425=)
17g.31349178A>TCA499239098NF1c.7230A>T (p.Leu2410=)
c.1812A>T (p.Leu604=)
c.1404A>T (p.Leu468=)
n.3893A>T
c.298A>T
c.7278A>T (p.Leu2426=)
c.7248A>T (p.Leu2416=)
c.7185A>T (p.Leu2395=)
c.6183A>T (p.Leu2061=)
c.631A>T
c.7384A>T (n.7384A>T)
c.391A>T
c.7239A>T (p.Leu2413=)
c.7215A>T (p.Leu2405=)
c.7275A>T (p.Leu2425=)
 dbSNP
17g.31349178_31349179delinsACCA2255607732NF1c.7230_7231delinsAC (p.Leu2410=)
c.1812_1813delinsAC (p.Leu604=)
c.1404_1405delinsAC (p.Leu468=)
n.3893_3894delinsAC
c.298_299delinsAC
c.7278_7279delinsAC (p.Leu2426=)
c.7248_7249delinsAC (p.Leu2416=)
c.7185_7186delinsAC (p.Leu2395=)
c.6183_6184delinsAC (p.Leu2061=)
c.631_632delinsAC
c.7384_7385delinsAC (n.7384_7385delinsAC)
c.391_392delinsAC
c.7239_7240delinsAC (p.Leu2413=)
c.7215_7216delinsAC (p.Leu2405=)
c.7275_7276delinsAC (p.Leu2425=)
17g.31349179delCA915949827NF1c.7231del (p.Leu2411Ter)
c.1813del (p.Leu605Ter)
c.1405del (p.Leu469Ter)
n.3894del
c.299del
c.7279del (p.Leu2427Ter)
c.7249del (p.Leu2417Ter)
c.7186del (p.Leu2396Ter)
c.6184del (p.Leu2062Ter)
c.632del
c.7385del (n.7385del)
c.392del
c.7240del (p.Leu2414Ter)
c.7216del (p.Leu2406Ter)
c.7276del (p.Leu2426Ter)
 ClinVar dbSNP
17g.31349179C>ACA399016771NF1c.7231C>A (p.Leu2411Ile)
c.1813C>A (p.Leu605Ile)
c.1405C>A (p.Leu469Ile)
n.3894C>A
c.299C>A
c.7279C>A (p.Leu2427Ile)
c.7249C>A (p.Leu2417Ile)
c.7186C>A (p.Leu2396Ile)
c.6184C>A (p.Leu2062Ile)
c.632C>A
c.7385C>A (n.7385C>A)
c.392C>A
c.7240C>A (p.Leu2414Ile)
c.7216C>A (p.Leu2406Ile)
c.7276C>A (p.Leu2426Ile)
 dbSNP
17g.31349179C=CA2255607733NF1c.7231C= (p.Leu2411=)
c.1813C= (p.Leu605=)
c.1405C= (p.Leu469=)
n.3894C=
c.299C=
c.7279C= (p.Leu2427=)
c.7249C= (p.Leu2417=)
c.7186C= (p.Leu2396=)
c.6184C= (p.Leu2062=)
c.632C=
c.7385C= (n.7385C=)
c.392C=
c.7240C= (p.Leu2414=)
c.7216C= (p.Leu2406=)
c.7276C= (p.Leu2426=)
17g.31349179C>GCA399016772NF1c.7231C>G (p.Leu2411Val)
c.1813C>G (p.Leu605Val)
c.1405C>G (p.Leu469Val)
n.3894C>G
c.299C>G
c.7279C>G (p.Leu2427Val)
c.7249C>G (p.Leu2417Val)
c.7186C>G (p.Leu2396Val)
c.6184C>G (p.Leu2062Val)
c.632C>G
c.7385C>G (n.7385C>G)
c.392C>G
c.7240C>G (p.Leu2414Val)
c.7216C>G (p.Leu2406Val)
c.7276C>G (p.Leu2426Val)
 ClinVar dbSNP
17g.31349179C>TCA499239099NF1c.7231C>T (p.Leu2411=)
c.1813C>T (p.Leu605=)
c.1405C>T (p.Leu469=)
n.3894C>T
c.299C>T
c.7279C>T (p.Leu2427=)
c.7249C>T (p.Leu2417=)
c.7186C>T (p.Leu2396=)
c.6184C>T (p.Leu2062=)
c.632C>T
c.7385C>T (n.7385C>T)
c.392C>T
c.7240C>T (p.Leu2414=)
c.7216C>T (p.Leu2406=)
c.7276C>T (p.Leu2426=)
 ClinVar
17g.31349179_31349188dupCA2580093328NF1c.7231_7240dup (p.Val2414AlafsTer5)
c.1813_1822dup (p.Val608AlafsTer5)
c.1405_1414dup (p.Val472AlafsTer5)
n.3894_3903dup
c.299_308dup
c.7279_7288dup (p.Val2430AlafsTer5)
c.7249_7258dup (p.Val2420AlafsTer5)
c.7186_7195dup (p.Val2399AlafsTer5)
c.6184_6193dup (p.Val2065AlafsTer5)
c.632_641dup
c.7385_7394dup (n.7385_7394dup)
c.392_401dup
c.7240_7249dup (p.Val2417AlafsTer5)
c.7216_7225dup (p.Val2409AlafsTer5)
c.7276_7285dup (p.Val2429AlafsTer5)
 ClinVar
17g.31349180T>ACA399016775NF1c.7232T>A (p.Leu2411Gln)
c.1814T>A (p.Leu605Gln)
c.1406T>A (p.Leu469Gln)
n.3895T>A
c.300T>A
c.7280T>A (p.Leu2427Gln)
c.7250T>A (p.Leu2417Gln)
c.7187T>A (p.Leu2396Gln)
c.6185T>A (p.Leu2062Gln)
c.633T>A
c.7386T>A (n.7386T>A)
c.393T>A
c.7241T>A (p.Leu2414Gln)
c.7217T>A (p.Leu2406Gln)
c.7277T>A (p.Leu2426Gln)
 dbSNP
17g.31349180T>CCA399016773NF1c.7232T>C (p.Leu2411Pro)
c.1814T>C (p.Leu605Pro)
c.1406T>C (p.Leu469Pro)
n.3895T>C
c.300T>C
c.7280T>C (p.Leu2427Pro)
c.7250T>C (p.Leu2417Pro)
c.7187T>C (p.Leu2396Pro)
c.6185T>C (p.Leu2062Pro)
c.633T>C
c.7386T>C (n.7386T>C)
c.393T>C
c.7241T>C (p.Leu2414Pro)
c.7217T>C (p.Leu2406Pro)
c.7277T>C (p.Leu2426Pro)
17g.31349180T>GCA399016774NF1c.7232T>G (p.Leu2411Arg)
c.1814T>G (p.Leu605Arg)
c.1406T>G (p.Leu469Arg)
n.3895T>G
c.300T>G
c.7280T>G (p.Leu2427Arg)
c.7250T>G (p.Leu2417Arg)
c.7187T>G (p.Leu2396Arg)
c.6185T>G (p.Leu2062Arg)
c.633T>G
c.7386T>G (n.7386T>G)
c.393T>G
c.7241T>G (p.Leu2414Arg)
c.7217T>G (p.Leu2406Arg)
c.7277T>G (p.Leu2426Arg)
17g.31349181A>CCA499239102NF1c.7233A>C (p.Leu2411=)
c.1815A>C (p.Leu605=)
c.1407A>C (p.Leu469=)
n.3896A>C
c.301A>C
c.7281A>C (p.Leu2427=)
c.7251A>C (p.Leu2417=)
c.7188A>C (p.Leu2396=)
c.6186A>C (p.Leu2062=)
c.634A>C
c.7387A>C (n.7387A>C)
c.394A>C
c.7242A>C (p.Leu2414=)
c.7218A>C (p.Leu2406=)
c.7278A>C (p.Leu2426=)
17g.31349181A>GCA499239101NF1c.7233A>G (p.Leu2411=)
c.1815A>G (p.Leu605=)
c.1407A>G (p.Leu469=)
n.3896A>G
c.301A>G
c.7281A>G (p.Leu2427=)
c.7251A>G (p.Leu2417=)
c.7188A>G (p.Leu2396=)
c.6186A>G (p.Leu2062=)
c.634A>G
c.7387A>G (n.7387A>G)
c.394A>G
c.7242A>G (p.Leu2414=)
c.7218A>G (p.Leu2406=)
c.7278A>G (p.Leu2426=)
17g.31349181A>TCA499239100NF1c.7233A>T (p.Leu2411=)
c.1815A>T (p.Leu605=)
c.1407A>T (p.Leu469=)
n.3896A>T
c.301A>T
c.7281A>T (p.Leu2427=)
c.7251A>T (p.Leu2417=)
c.7188A>T (p.Leu2396=)
c.6186A>T (p.Leu2062=)
c.634A>T
c.7387A>T (n.7387A>T)
c.394A>T
c.7242A>T (p.Leu2414=)
c.7218A>T (p.Leu2406=)
c.7278A>T (p.Leu2426=)
17g.31349182dupCA2637077450NF1c.7234dup (p.Thr2412AsnfsTer4)
c.1816dup (p.Thr606AsnfsTer4)
c.1408dup (p.Thr470AsnfsTer4)
n.3897dup
c.302dup
c.7282dup (p.Thr2428AsnfsTer4)
c.7252dup (p.Thr2418AsnfsTer4)
c.7189dup (p.Thr2397AsnfsTer4)
c.6187dup (p.Thr2063AsnfsTer4)
c.635dup
c.7388dup (n.7388dup)
c.395dup
c.7243dup (p.Thr2415AsnfsTer4)
c.7219dup (p.Thr2407AsnfsTer4)
c.7279dup (p.Thr2427AsnfsTer4)
 gnomAD v4
17g.31349182delCA2695225466NF1c.7234del (p.Thr2412LeufsTer14)
c.1816del (p.Thr606LeufsTer14)
c.1408del (p.Thr470LeufsTer14)
n.3897del
c.302del
c.7282del (p.Thr2428LeufsTer14)
c.7252del (p.Thr2418LeufsTer14)
c.7189del (p.Thr2397LeufsTer14)
c.6187del (p.Thr2063LeufsTer14)
c.635del
c.7388del (n.7388del)
c.395del
c.7243del (p.Thr2415LeufsTer14)
c.7219del (p.Thr2407LeufsTer14)
c.7279del (p.Thr2427LeufsTer14)
17g.31349182A>CCA399016776NF1c.7234A>C (p.Thr2412Pro)
c.1816A>C (p.Thr606Pro)
c.1408A>C (p.Thr470Pro)
n.3897A>C
c.302A>C
c.7282A>C (p.Thr2428Pro)
c.7252A>C (p.Thr2418Pro)
c.7189A>C (p.Thr2397Pro)
c.6187A>C (p.Thr2063Pro)
c.635A>C
c.7388A>C (n.7388A>C)
c.395A>C
c.7243A>C (p.Thr2415Pro)
c.7219A>C (p.Thr2407Pro)
c.7279A>C (p.Thr2427Pro)
 gnomAD v4
17g.31349182A>GCA399016777NF1c.7234A>G (p.Thr2412Ala)
c.1816A>G (p.Thr606Ala)
c.1408A>G (p.Thr470Ala)
n.3897A>G
c.302A>G
c.7282A>G (p.Thr2428Ala)
c.7252A>G (p.Thr2418Ala)
c.7189A>G (p.Thr2397Ala)
c.6187A>G (p.Thr2063Ala)
c.635A>G
c.7388A>G (n.7388A>G)
c.395A>G
c.7243A>G (p.Thr2415Ala)
c.7219A>G (p.Thr2407Ala)
c.7279A>G (p.Thr2427Ala)
17g.31349182A>TCA399016778NF1c.7234A>T (p.Thr2412Ser)
c.1816A>T (p.Thr606Ser)
c.1408A>T (p.Thr470Ser)
n.3897A>T
c.302A>T
c.7282A>T (p.Thr2428Ser)
c.7252A>T (p.Thr2418Ser)
c.7189A>T (p.Thr2397Ser)
c.6187A>T (p.Thr2063Ser)
c.635A>T
c.7388A>T (n.7388A>T)
c.395A>T
c.7243A>T (p.Thr2415Ser)
c.7219A>T (p.Thr2407Ser)
c.7279A>T (p.Thr2427Ser)
 dbSNP
17g.31349182_31349184delinsACTCA2255607734NF1c.7234_7236delinsACT (p.Thr2412=)
c.1816_1818delinsACT (p.Thr606=)
c.1408_1410delinsACT (p.Thr470=)
n.3897_3899delinsACT
c.302_304delinsACT
c.7282_7284delinsACT (p.Thr2428=)
c.7252_7254delinsACT (p.Thr2418=)
c.7189_7191delinsACT (p.Thr2397=)
c.6187_6189delinsACT (p.Thr2063=)
c.635_637delinsACT
c.7388_7390delinsACT (n.7388_7390delinsACT)
c.395_397delinsACT
c.7243_7245delinsACT (p.Thr2415=)
c.7219_7221delinsACT (p.Thr2407=)
c.7279_7281delinsACT (p.Thr2427=)
17g.31349182_31349185delCA2573153821NF1c.7234_7237del (p.Thr2412TrpfsTer13)
c.1816_1819del (p.Thr606TrpfsTer13)
c.1408_1411del (p.Thr470TrpfsTer13)
n.3897_3900del
c.302_305del
c.7282_7285del (p.Thr2428TrpfsTer13)
c.7252_7255del (p.Thr2418TrpfsTer13)
c.7189_7192del (p.Thr2397TrpfsTer13)
c.6187_6190del (p.Thr2063TrpfsTer13)
c.635_638del
c.7388_7391del (n.7388_7391del)
c.395_398del
c.7243_7246del (p.Thr2415TrpfsTer13)
c.7219_7222del (p.Thr2407TrpfsTer13)
c.7279_7282del (p.Thr2427TrpfsTer13)
 ClinVar dbSNP
17g.31349183C>ACA399016779NF1c.7235C>A (p.Thr2412Asn)
c.1817C>A (p.Thr606Asn)
c.1409C>A (p.Thr470Asn)
n.3898C>A
c.303C>A
c.7283C>A (p.Thr2428Asn)
c.7253C>A (p.Thr2418Asn)
c.7190C>A (p.Thr2397Asn)
c.6188C>A (p.Thr2063Asn)
c.636C>A
c.7389C>A (n.7389C>A)
c.396C>A
c.7244C>A (p.Thr2415Asn)
c.7220C>A (p.Thr2407Asn)
c.7280C>A (p.Thr2427Asn)
 dbSNP
17g.31349183C=CA2255607735NF1c.7235C= (p.Thr2412=)
c.1817C= (p.Thr606=)
c.1409C= (p.Thr470=)
n.3898C=
c.303C=
c.7283C= (p.Thr2428=)
c.7253C= (p.Thr2418=)
c.7190C= (p.Thr2397=)
c.6188C= (p.Thr2063=)
c.636C=
c.7389C= (n.7389C=)
c.396C=
c.7244C= (p.Thr2415=)
c.7220C= (p.Thr2407=)
c.7280C= (p.Thr2427=)
17g.31349183C>GCA399016780NF1c.7235C>G (p.Thr2412Ser)
c.1817C>G (p.Thr606Ser)
c.1409C>G (p.Thr470Ser)
n.3898C>G
c.303C>G
c.7283C>G (p.Thr2428Ser)
c.7253C>G (p.Thr2418Ser)
c.7190C>G (p.Thr2397Ser)
c.6188C>G (p.Thr2063Ser)
c.636C>G
c.7389C>G (n.7389C>G)
c.396C>G
c.7244C>G (p.Thr2415Ser)
c.7220C>G (p.Thr2407Ser)
c.7280C>G (p.Thr2427Ser)
 ClinVar dbSNP
17g.31349183C>TCA8487532NF1c.7235C>T (p.Thr2412Ile)
c.1817C>T (p.Thr606Ile)
c.1409C>T (p.Thr470Ile)
n.3898C>T
c.303C>T
c.7283C>T (p.Thr2428Ile)
c.7253C>T (p.Thr2418Ile)
c.7190C>T (p.Thr2397Ile)
c.6188C>T (p.Thr2063Ile)
c.636C>T
c.7389C>T (n.7389C>T)
c.396C>T
c.7244C>T (p.Thr2415Ile)
c.7220C>T (p.Thr2407Ile)
c.7280C>T (p.Thr2427Ile)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17g.31349185_31349186delCA658761016NF1c.7237_7238del (p.Leu2413GlyfsTer2)
c.1819_1820del (p.Leu607GlyfsTer2)
c.1411_1412del (p.Leu471GlyfsTer2)
n.3900_3901del
c.305_306del
c.7285_7286del (p.Leu2429GlyfsTer2)
c.7255_7256del (p.Leu2419GlyfsTer2)
c.7192_7193del (p.Leu2398GlyfsTer2)
c.6190_6191del (p.Leu2064GlyfsTer2)
c.638_639del
c.7391_7392del (n.7391_7392del)
c.398_399del
c.7246_7247del (p.Leu2416GlyfsTer2)
c.7222_7223del (p.Leu2408GlyfsTer2)
c.7282_7283del (p.Leu2428GlyfsTer2)
 ClinVar dbSNP gnomAD v4
17g.31349184T>ACA499239103NF1c.7236T>A (p.Thr2412=)
c.1818T>A (p.Thr606=)
c.1410T>A (p.Thr470=)
n.3899T>A
c.304T>A
c.7284T>A (p.Thr2428=)
c.7254T>A (p.Thr2418=)
c.7191T>A (p.Thr2397=)
c.6189T>A (p.Thr2063=)
c.637T>A
c.7390T>A (n.7390T>A)
c.397T>A
c.7245T>A (p.Thr2415=)
c.7221T>A (p.Thr2407=)
c.7281T>A (p.Thr2427=)
 dbSNP
17g.31349184T>CCA499239104NF1c.7236T>C (p.Thr2412=)
c.1818T>C (p.Thr606=)
c.1410T>C (p.Thr470=)
n.3899T>C
c.304T>C
c.7284T>C (p.Thr2428=)
c.7254T>C (p.Thr2418=)
c.7191T>C (p.Thr2397=)
c.6189T>C (p.Thr2063=)
c.637T>C
c.7390T>C (n.7390T>C)
c.397T>C
c.7245T>C (p.Thr2415=)
c.7221T>C (p.Thr2407=)
c.7281T>C (p.Thr2427=)
 ClinVar dbSNP
17g.31349184T>GCA499239105NF1c.7236T>G (p.Thr2412=)
c.1818T>G (p.Thr606=)
c.1410T>G (p.Thr470=)
n.3899T>G
c.304T>G
c.7284T>G (p.Thr2428=)
c.7254T>G (p.Thr2418=)
c.7191T>G (p.Thr2397=)
c.6189T>G (p.Thr2063=)
c.637T>G
c.7390T>G (n.7390T>G)
c.397T>G
c.7245T>G (p.Thr2415=)
c.7221T>G (p.Thr2407=)
c.7281T>G (p.Thr2427=)
 ClinVar dbSNP
17g.31349184T=CA2255607736NF1c.7236T= (p.Thr2412=)
c.1818T= (p.Thr606=)
c.1410T= (p.Thr470=)
n.3899T=
c.304T=
c.7284T= (p.Thr2428=)
c.7254T= (p.Thr2418=)
c.7191T= (p.Thr2397=)
c.6189T= (p.Thr2063=)
c.637T=
c.7390T= (n.7390T=)
c.397T=
c.7245T= (p.Thr2415=)
c.7221T= (p.Thr2407=)
c.7281T= (p.Thr2427=)
17g.31349185C>ACA399016781NF1c.7237C>A (p.Leu2413Met)
c.1819C>A (p.Leu607Met)
c.1411C>A (p.Leu471Met)
n.3900C>A
c.305C>A
c.7285C>A (p.Leu2429Met)
c.7255C>A (p.Leu2419Met)
c.7192C>A (p.Leu2398Met)
c.6190C>A (p.Leu2064Met)
c.638C>A
c.7391C>A (n.7391C>A)
c.398C>A
c.7246C>A (p.Leu2416Met)
c.7222C>A (p.Leu2408Met)
c.7282C>A (p.Leu2428Met)
 dbSNP
17g.31349185C>GCA399016782NF1c.7237C>G (p.Leu2413Val)
c.1819C>G (p.Leu607Val)
c.1411C>G (p.Leu471Val)
n.3900C>G
c.305C>G
c.7285C>G (p.Leu2429Val)
c.7255C>G (p.Leu2419Val)
c.7192C>G (p.Leu2398Val)
c.6190C>G (p.Leu2064Val)
c.638C>G
c.7391C>G (n.7391C>G)
c.398C>G
c.7246C>G (p.Leu2416Val)
c.7222C>G (p.Leu2408Val)
c.7282C>G (p.Leu2428Val)
 dbSNP
17g.31349185C>TCA499239106NF1c.7237C>T (p.Leu2413=)
c.1819C>T (p.Leu607=)
c.1411C>T (p.Leu471=)
n.3900C>T
c.305C>T
c.7285C>T (p.Leu2429=)
c.7255C>T (p.Leu2419=)
c.7192C>T (p.Leu2398=)
c.6190C>T (p.Leu2064=)
c.638C>T
c.7391C>T (n.7391C>T)
c.398C>T
c.7246C>T (p.Leu2416=)
c.7222C>T (p.Leu2408=)
c.7282C>T (p.Leu2428=)
 dbSNP
17g.31349185_31349187delinsCTGCA2255607737NF1c.7237_7239delinsCTG (p.Leu2413=)
c.1819_1821delinsCTG (p.Leu607=)
c.1411_1413delinsCTG (p.Leu471=)
n.3900_3902delinsCTG
c.305_307delinsCTG
c.7285_7287delinsCTG (p.Leu2429=)
c.7255_7257delinsCTG (p.Leu2419=)
c.7192_7194delinsCTG (p.Leu2398=)
c.6190_6192delinsCTG (p.Leu2064=)
c.638_640delinsCTG
c.7391_7393delinsCTG (n.7391_7393delinsCTG)
c.398_400delinsCTG
c.7246_7248delinsCTG (p.Leu2416=)
c.7222_7224delinsCTG (p.Leu2408=)
c.7282_7284delinsCTG (p.Leu2428=)
17g.31349186T>ACA399016783NF1c.7238T>A (p.Leu2413Gln)
c.1820T>A (p.Leu607Gln)
c.1412T>A (p.Leu471Gln)
n.3901T>A
c.306T>A
c.7286T>A (p.Leu2429Gln)
c.7256T>A (p.Leu2419Gln)
c.7193T>A (p.Leu2398Gln)
c.6191T>A (p.Leu2064Gln)
c.639T>A
c.7392T>A (n.7392T>A)
c.399T>A
c.7247T>A (p.Leu2416Gln)
c.7223T>A (p.Leu2408Gln)
c.7283T>A (p.Leu2428Gln)
17g.31349186T>CCA399016784NF1c.7238T>C (p.Leu2413Pro)
c.1820T>C (p.Leu607Pro)
c.1412T>C (p.Leu471Pro)
n.3901T>C
c.306T>C
c.7286T>C (p.Leu2429Pro)
c.7256T>C (p.Leu2419Pro)
c.7193T>C (p.Leu2398Pro)
c.6191T>C (p.Leu2064Pro)
c.639T>C
c.7392T>C (n.7392T>C)
c.399T>C
c.7247T>C (p.Leu2416Pro)
c.7223T>C (p.Leu2408Pro)
c.7283T>C (p.Leu2428Pro)
 ClinVar
17g.31349186T>GCA399016785NF1c.7238T>G (p.Leu2413Arg)
c.1820T>G (p.Leu607Arg)
c.1412T>G (p.Leu471Arg)
n.3901T>G
c.306T>G
c.7286T>G (p.Leu2429Arg)
c.7256T>G (p.Leu2419Arg)
c.7193T>G (p.Leu2398Arg)
c.6191T>G (p.Leu2064Arg)
c.639T>G
c.7392T>G (n.7392T>G)
c.399T>G
c.7247T>G (p.Leu2416Arg)
c.7223T>G (p.Leu2408Arg)
c.7283T>G (p.Leu2428Arg)
 ClinVar dbSNP
17g.31349186T=CA2255607738NF1c.7238T= (p.Leu2413=)
c.1820T= (p.Leu607=)
c.1412T= (p.Leu471=)
n.3901T=
c.306T=
c.7286T= (p.Leu2429=)
c.7256T= (p.Leu2419=)
c.7193T= (p.Leu2398=)
c.6191T= (p.Leu2064=)
c.639T=
c.7392T= (n.7392T=)
c.399T=
c.7247T= (p.Leu2416=)
c.7223T= (p.Leu2408=)
c.7283T= (p.Leu2428=)
17g.31349186_31349187delCA658798780NF1c.7238_7239del (p.Leu2413ArgfsTer2)
c.1820_1821del (p.Leu607ArgfsTer2)
c.1412_1413del (p.Leu471ArgfsTer2)
n.3901_3902del
c.306_307del
c.7286_7287del (p.Leu2429ArgfsTer2)
c.7256_7257del (p.Leu2419ArgfsTer2)
c.7193_7194del (p.Leu2398ArgfsTer2)
c.6191_6192del (p.Leu2064ArgfsTer2)
c.639_640del
c.7392_7393del (n.7392_7393del)
c.399_400del
c.7247_7248del (p.Leu2416ArgfsTer2)
c.7223_7224del (p.Leu2408ArgfsTer2)
c.7283_7284del (p.Leu2428ArgfsTer2)
 ClinVar dbSNP
17g.31349187G>ACA499239107NF1c.7239G>A (p.Leu2413=)
c.1821G>A (p.Leu607=)
c.1413G>A (p.Leu471=)
n.3902G>A
c.307G>A
c.7287G>A (p.Leu2429=)
c.7257G>A (p.Leu2419=)
c.7194G>A (p.Leu2398=)
c.6192G>A (p.Leu2064=)
c.640G>A
c.7393G>A (n.7393G>A)
c.400G>A
c.7248G>A (p.Leu2416=)
c.7224G>A (p.Leu2408=)
c.7284G>A (p.Leu2428=)
 dbSNP gnomAD v2 gnomAD v4
17g.31349187G>CCA499239108NF1c.7239G>C (p.Leu2413=)
c.1821G>C (p.Leu607=)
c.1413G>C (p.Leu471=)
n.3902G>C
c.307G>C
c.7287G>C (p.Leu2429=)
c.7257G>C (p.Leu2419=)
c.7194G>C (p.Leu2398=)
c.6192G>C (p.Leu2064=)
c.640G>C
c.7393G>C (n.7393G>C)
c.400G>C
c.7248G>C (p.Leu2416=)
c.7224G>C (p.Leu2408=)
c.7284G>C (p.Leu2428=)
 dbSNP
17g.31349187G=CA2255607739NF1c.7239G= (p.Leu2413=)
c.1821G= (p.Leu607=)
c.1413G= (p.Leu471=)
n.3902G=
c.307G=
c.7287G= (p.Leu2429=)
c.7257G= (p.Leu2419=)
c.7194G= (p.Leu2398=)
c.6192G= (p.Leu2064=)
c.640G=
c.7393G= (n.7393G=)
c.400G=
c.7248G= (p.Leu2416=)
c.7224G= (p.Leu2408=)
c.7284G= (p.Leu2428=)
17g.31349187G>TCA499239109NF1c.7239G>T (p.Leu2413=)
c.1821G>T (p.Leu607=)
c.1413G>T (p.Leu471=)
n.3902G>T
c.307G>T
c.7287G>T (p.Leu2429=)
c.7257G>T (p.Leu2419=)
c.7194G>T (p.Leu2398=)
c.6192G>T (p.Leu2064=)
c.640G>T
c.7393G>T (n.7393G>T)
c.400G>T
c.7248G>T (p.Leu2416=)
c.7224G>T (p.Leu2408=)
c.7284G>T (p.Leu2428=)
 dbSNP
17g.31349188G>ACA399016787NF1c.7240G>A (p.Val2414Ile)
c.1822G>A (p.Val608Ile)
c.1414G>A (p.Val472Ile)
n.3903G>A
c.308G>A
c.7288G>A (p.Val2430Ile)
c.7258G>A (p.Val2420Ile)
c.7195G>A (p.Val2399Ile)
c.6193G>A (p.Val2065Ile)
c.641G>A
c.7394G>A (n.7394G>A)
c.401G>A
c.7249G>A (p.Val2417Ile)
c.7225G>A (p.Val2409Ile)
c.7285G>A (p.Val2429Ile)
 ClinVar dbSNP gnomAD v4
17g.31349188G>CCA399016788NF1c.7240G>C (p.Val2414Leu)
c.1822G>C (p.Val608Leu)
c.1414G>C (p.Val472Leu)
n.3903G>C
c.308G>C
c.7288G>C (p.Val2430Leu)
c.7258G>C (p.Val2420Leu)
c.7195G>C (p.Val2399Leu)
c.6193G>C (p.Val2065Leu)
c.641G>C
c.7394G>C (n.7394G>C)
c.401G>C
c.7249G>C (p.Val2417Leu)
c.7225G>C (p.Val2409Leu)
c.7285G>C (p.Val2429Leu)
 ClinVar dbSNP
17g.31349188G=CA2255607740NF1c.7240G= (p.Val2414=)
c.1822G= (p.Val608=)
c.1414G= (p.Val472=)
n.3903G=
c.308G=
c.7288G= (p.Val2430=)
c.7258G= (p.Val2420=)
c.7195G= (p.Val2399=)
c.6193G= (p.Val2065=)
c.641G=
c.7394G= (n.7394G=)
c.401G=
c.7249G= (p.Val2417=)
c.7225G= (p.Val2409=)
c.7285G= (p.Val2429=)
17g.31349188G>TCA399016786NF1c.7240G>T (p.Val2414Phe)
c.1822G>T (p.Val608Phe)
c.1414G>T (p.Val472Phe)
n.3903G>T
c.308G>T
c.7288G>T (p.Val2430Phe)
c.7258G>T (p.Val2420Phe)
c.7195G>T (p.Val2399Phe)
c.6193G>T (p.Val2065Phe)
c.641G>T
c.7394G>T (n.7394G>T)
c.401G>T
c.7249G>T (p.Val2417Phe)
c.7225G>T (p.Val2409Phe)
c.7285G>T (p.Val2429Phe)
 dbSNP
17g.31349189T>ACA399016789NF1c.7241T>A (p.Val2414Asp)
c.1823T>A (p.Val608Asp)
c.1415T>A (p.Val472Asp)
n.3904T>A
c.309T>A
c.7289T>A (p.Val2430Asp)
c.7259T>A (p.Val2420Asp)
c.7196T>A (p.Val2399Asp)
c.6194T>A (p.Val2065Asp)
c.642T>A
c.7395T>A (n.7395T>A)
c.402T>A
c.7250T>A (p.Val2417Asp)
c.7226T>A (p.Val2409Asp)
c.7286T>A (p.Val2429Asp)
 dbSNP
17g.31349189T>CCA399016790NF1c.7241T>C (p.Val2414Ala)
c.1823T>C (p.Val608Ala)
c.1415T>C (p.Val472Ala)
n.3904T>C
c.309T>C
c.7289T>C (p.Val2430Ala)
c.7259T>C (p.Val2420Ala)
c.7196T>C (p.Val2399Ala)
c.6194T>C (p.Val2065Ala)
c.642T>C
c.7395T>C (n.7395T>C)
c.402T>C
c.7250T>C (p.Val2417Ala)
c.7226T>C (p.Val2409Ala)
c.7286T>C (p.Val2429Ala)
 dbSNP
17g.31349189T>GCA399016791NF1c.7241T>G (p.Val2414Gly)
c.1823T>G (p.Val608Gly)
c.1415T>G (p.Val472Gly)
n.3904T>G
c.309T>G
c.7289T>G (p.Val2430Gly)
c.7259T>G (p.Val2420Gly)
c.7196T>G (p.Val2399Gly)
c.6194T>G (p.Val2065Gly)
c.642T>G
c.7395T>G (n.7395T>G)
c.402T>G
c.7250T>G (p.Val2417Gly)
c.7226T>G (p.Val2409Gly)
c.7286T>G (p.Val2429Gly)
17g.31349190dupCA645373110NF1c.7242dup (p.Asn2415Ter)
c.1824dup (p.Asn609Ter)
c.1416dup (p.Asn473Ter)
n.3905dup
c.310dup
c.7290dup (p.Asn2431Ter)
c.7260dup (p.Asn2421Ter)
c.7197dup (p.Asn2400Ter)
c.6195dup (p.Asn2066Ter)
c.643dup
c.7396dup (n.7396dup)
c.403dup
c.7251dup (p.Asn2418Ter)
c.7227dup (p.Asn2410Ter)
c.7287dup (p.Asn2430Ter)
 ClinVar dbSNP
17g.31349190delCA2573153822NF1c.7242del (p.Asn2415ThrfsTer11)
c.1824del (p.Asn609ThrfsTer11)
c.1416del (p.Asn473ThrfsTer11)
n.3905del
c.310del
c.7290del (p.Asn2431ThrfsTer11)
c.7260del (p.Asn2421ThrfsTer11)
c.7197del (p.Asn2400ThrfsTer11)
c.6195del (p.Asn2066ThrfsTer11)
c.643del
c.7396del (n.7396del)
c.403del
c.7251del (p.Asn2418ThrfsTer11)
c.7227del (p.Asn2410ThrfsTer11)
c.7287del (p.Asn2430ThrfsTer11)
 ClinVar dbSNP
17g.31349190T>ACA499239110NF1c.7242T>A (p.Val2414=)
c.1824T>A (p.Val608=)
c.1416T>A (p.Val472=)
n.3905T>A
c.310T>A
c.7290T>A (p.Val2430=)
c.7260T>A (p.Val2420=)
c.7197T>A (p.Val2399=)
c.6195T>A (p.Val2065=)
c.643T>A
c.7396T>A (n.7396T>A)
c.403T>A
c.7251T>A (p.Val2417=)
c.7227T>A (p.Val2409=)
c.7287T>A (p.Val2429=)
 ClinVar dbSNP
17g.31349190T>CCA499239111NF1c.7242T>C (p.Val2414=)
c.1824T>C (p.Val608=)
c.1416T>C (p.Val472=)
n.3905T>C
c.310T>C
c.7290T>C (p.Val2430=)
c.7260T>C (p.Val2420=)
c.7197T>C (p.Val2399=)
c.6195T>C (p.Val2065=)
c.643T>C
c.7396T>C (n.7396T>C)
c.403T>C
c.7251T>C (p.Val2417=)
c.7227T>C (p.Val2409=)
c.7287T>C (p.Val2429=)
 ClinVar
17g.31349190T>GCA499239112NF1c.7242T>G (p.Val2414=)
c.1824T>G (p.Val608=)
c.1416T>G (p.Val472=)
n.3905T>G
c.310T>G
c.7290T>G (p.Val2430=)
c.7260T>G (p.Val2420=)
c.7197T>G (p.Val2399=)
c.6195T>G (p.Val2065=)
c.643T>G
c.7396T>G (n.7396T>G)
c.403T>G
c.7251T>G (p.Val2417=)
c.7227T>G (p.Val2409=)
c.7287T>G (p.Val2429=)
17g.31349190_31349191delinsTACA2255607742NF1c.7242_7243delinsTA (p.Val2414=)
c.1824_1825delinsTA (p.Val608=)
c.1416_1417delinsTA (p.Val472=)
n.3905_3906delinsTA
c.310_311delinsTA
c.7290_7291delinsTA (p.Val2430=)
c.7260_7261delinsTA (p.Val2420=)
c.7197_7198delinsTA (p.Val2399=)
c.6195_6196delinsTA (p.Val2065=)
c.643_644delinsTA
c.7396_7397delinsTA (n.7396_7397delinsTA)
c.403_404delinsTA
c.7251_7252delinsTA (p.Val2417=)
c.7227_7228delinsTA (p.Val2409=)
c.7287_7288delinsTA (p.Val2429=)
17g.31349190_31349194delCA2573153823NF1c.7242_7246del (p.Asn2415ThrfsTer5)
c.1824_1828del (p.Asn609ThrfsTer5)
c.1416_1420del (p.Asn473ThrfsTer5)
n.3905_3909del
c.310_314del
c.7290_7294del (p.Asn2431ThrfsTer5)
c.7260_7264del (p.Asn2421ThrfsTer5)
c.7197_7201del (p.Asn2400ThrfsTer5)
c.6195_6199del (p.Asn2066ThrfsTer5)
c.643_647del
c.7396_7400del (n.7396_7400del)
c.403_407del
c.7251_7255del (p.Asn2418ThrfsTer5)
c.7227_7231del (p.Asn2410ThrfsTer5)
c.7287_7291del (p.Asn2430ThrfsTer5)
 ClinVar dbSNP
17g.31349190_31349194delinsTAACACA2255607743NF1c.7242_7246delinsTAACA (p.Val2414=)
c.1824_1828delinsTAACA (p.Val608=)
c.1416_1420delinsTAACA (p.Val472=)
n.3905_3909delinsTAACA
c.310_314delinsTAACA
c.7290_7294delinsTAACA (p.Val2430=)
c.7260_7264delinsTAACA (p.Val2420=)
c.7197_7201delinsTAACA (p.Val2399=)
c.6195_6199delinsTAACA (p.Val2065=)
c.643_647delinsTAACA
c.7396_7400delinsTAACA (n.7396_7400delinsTAACA)
c.403_407delinsTAACA
c.7251_7255delinsTAACA (p.Val2417=)
c.7227_7231delinsTAACA (p.Val2409=)
c.7287_7291delinsTAACA (p.Val2429=)
17g.31349190_31349195delinsTAACAACA2255607741NF1c.7242_7247delinsTAACAA (p.Val2414=)
c.1824_1829delinsTAACAA (p.Val608=)
c.1416_1421delinsTAACAA (p.Val472=)
n.3905_3910delinsTAACAA
c.310_315delinsTAACAA
c.7290_7295delinsTAACAA (p.Val2430=)
c.7260_7265delinsTAACAA (p.Val2420=)
c.7197_7202delinsTAACAA (p.Val2399=)
c.6195_6200delinsTAACAA (p.Val2065=)
c.643_648delinsTAACAA
c.7396_7401delinsTAACAA (n.7396_7401delinsTAACAA)
c.403_408delinsTAACAA
c.7251_7256delinsTAACAA (p.Val2417=)
c.7227_7232delinsTAACAA (p.Val2409=)
c.7287_7292delinsTAACAA (p.Val2429=)
17g.31349191A>CCA399016792NF1c.7243A>C (p.Asn2415His)
c.1825A>C (p.Asn609His)
c.1417A>C (p.Asn473His)
n.3906A>C
c.311A>C
c.7291A>C (p.Asn2431His)
c.7261A>C (p.Asn2421His)
c.7198A>C (p.Asn2400His)
c.6196A>C (p.Asn2066His)
c.644A>C
c.7397A>C (n.7397A>C)
c.404A>C
c.7252A>C (p.Asn2418His)
c.7228A>C (p.Asn2410His)
c.7288A>C (p.Asn2430His)
17g.31349191A>GCA399016793NF1c.7243A>G (p.Asn2415Asp)
c.1825A>G (p.Asn609Asp)
c.1417A>G (p.Asn473Asp)
n.3906A>G
c.311A>G
c.7291A>G (p.Asn2431Asp)
c.7261A>G (p.Asn2421Asp)
c.7198A>G (p.Asn2400Asp)
c.6196A>G (p.Asn2066Asp)
c.644A>G
c.7397A>G (n.7397A>G)
c.404A>G
c.7252A>G (p.Asn2418Asp)
c.7228A>G (p.Asn2410Asp)
c.7288A>G (p.Asn2430Asp)
17g.31349191A>TCA399016794NF1c.7243A>T (p.Asn2415Tyr)
c.1825A>T (p.Asn609Tyr)
c.1417A>T (p.Asn473Tyr)
n.3906A>T
c.311A>T
c.7291A>T (p.Asn2431Tyr)
c.7261A>T (p.Asn2421Tyr)
c.7198A>T (p.Asn2400Tyr)
c.6196A>T (p.Asn2066Tyr)
c.644A>T
c.7397A>T (n.7397A>T)
c.404A>T
c.7252A>T (p.Asn2418Tyr)
c.7228A>T (p.Asn2410Tyr)
c.7288A>T (p.Asn2430Tyr)
 dbSNP
17g.31349192delCA916080665NF1c.7244del (p.Asn2415ThrfsTer11)
c.1826del (p.Asn609ThrfsTer11)
c.1418del (p.Asn473ThrfsTer11)
n.3907del
c.312del
c.7292del (p.Asn2431ThrfsTer11)
c.7262del (p.Asn2421ThrfsTer11)
c.7199del (p.Asn2400ThrfsTer11)
c.6197del (p.Asn2066ThrfsTer11)
c.645del
c.7398del (n.7398del)
c.405del
c.7253del (p.Asn2418ThrfsTer11)
c.7229del (p.Asn2410ThrfsTer11)
c.7289del (p.Asn2430ThrfsTer11)
 ClinVar dbSNP
17g.31349192_31349196delCA916080664NF1c.7244_7248del (p.Asn2415ThrfsTer5)
c.1826_1830del (p.Asn609ThrfsTer5)
c.1418_1422del (p.Asn473ThrfsTer5)
n.3907_3911del
c.312_316del
c.7292_7296del (p.Asn2431ThrfsTer5)
c.7262_7266del (p.Asn2421ThrfsTer5)
c.7199_7203del (p.Asn2400ThrfsTer5)
c.6197_6201del (p.Asn2066ThrfsTer5)
c.645_649del
c.7398_7402del (n.7398_7402del)
c.405_409del
c.7253_7257del (p.Asn2418ThrfsTer5)
c.7229_7233del (p.Asn2410ThrfsTer5)
c.7289_7293del (p.Asn2430ThrfsTer5)
 ClinVar dbSNP
17g.31349195_31349198delCA658761017NF1c.7247_7250del (p.Lys2416ThrfsTer9)
c.1829_1832del (p.Lys610ThrfsTer9)
c.1421_1424del (p.Lys474ThrfsTer9)
n.3910_3913del
c.315_318del
c.7295_7298del (p.Lys2432ThrfsTer9)
c.7265_7268del (p.Lys2422ThrfsTer9)
c.7202_7205del (p.Lys2401ThrfsTer9)
c.6200_6203del (p.Lys2067ThrfsTer9)
c.648_651del
c.7401_7404del (n.7401_7404del)
c.408_411del
c.7256_7259del (p.Lys2419ThrfsTer9)
c.7232_7235del (p.Lys2411ThrfsTer9)
c.7292_7295del (p.Lys2431ThrfsTer9)
 ClinVar dbSNP
17g.31349192A=CA2255607744NF1c.7244A= (p.Asn2415=)
c.1826A= (p.Asn609=)
c.1418A= (p.Asn473=)
n.3907A=
c.312A=
c.7292A= (p.Asn2431=)
c.7262A= (p.Asn2421=)
c.7199A= (p.Asn2400=)
c.6197A= (p.Asn2066=)
c.645A=
c.7398A= (n.7398A=)
c.405A=
c.7253A= (p.Asn2418=)
c.7229A= (p.Asn2410=)
c.7289A= (p.Asn2430=)
17g.31349192A>CCA399016796NF1c.7244A>C (p.Asn2415Thr)
c.1826A>C (p.Asn609Thr)
c.1418A>C (p.Asn473Thr)
n.3907A>C
c.312A>C
c.7292A>C (p.Asn2431Thr)
c.7262A>C (p.Asn2421Thr)
c.7199A>C (p.Asn2400Thr)
c.6197A>C (p.Asn2066Thr)
c.645A>C
c.7398A>C (n.7398A>C)
c.405A>C
c.7253A>C (p.Asn2418Thr)
c.7229A>C (p.Asn2410Thr)
c.7289A>C (p.Asn2430Thr)
 ClinVar dbSNP
17g.31349192A>GCA350447NF1c.7244A>G (p.Asn2415Ser)
c.1826A>G (p.Asn609Ser)
c.1418A>G (p.Asn473Ser)
n.3907A>G
c.312A>G
c.7292A>G (p.Asn2431Ser)
c.7262A>G (p.Asn2421Ser)
c.7199A>G (p.Asn2400Ser)
c.6197A>G (p.Asn2066Ser)
c.645A>G
c.7398A>G (n.7398A>G)
c.405A>G
c.7253A>G (p.Asn2418Ser)
c.7229A>G (p.Asn2410Ser)
c.7289A>G (p.Asn2430Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31349192A>TCA399016795NF1c.7244A>T (p.Asn2415Ile)
c.1826A>T (p.Asn609Ile)
c.1418A>T (p.Asn473Ile)
n.3907A>T
c.312A>T
c.7292A>T (p.Asn2431Ile)
c.7262A>T (p.Asn2421Ile)
c.7199A>T (p.Asn2400Ile)
c.6197A>T (p.Asn2066Ile)
c.645A>T
c.7398A>T (n.7398A>T)
c.405A>T
c.7253A>T (p.Asn2418Ile)
c.7229A>T (p.Asn2410Ile)
c.7289A>T (p.Asn2430Ile)
 dbSNP
17g.31349193C>ACA399016797NF1c.7245C>A (p.Asn2415Lys)
c.1827C>A (p.Asn609Lys)
c.1419C>A (p.Asn473Lys)
n.3908C>A
c.313C>A
c.7293C>A (p.Asn2431Lys)
c.7263C>A (p.Asn2421Lys)
c.7200C>A (p.Asn2400Lys)
c.6198C>A (p.Asn2066Lys)
c.646C>A
c.7399C>A (n.7399C>A)
c.406C>A
c.7254C>A (p.Asn2418Lys)
c.7230C>A (p.Asn2410Lys)
c.7290C>A (p.Asn2430Lys)
17g.31349193C=CA2255607745NF1c.7245C= (p.Asn2415=)
c.1827C= (p.Asn609=)
c.1419C= (p.Asn473=)
n.3908C=
c.313C=
c.7293C= (p.Asn2431=)
c.7263C= (p.Asn2421=)
c.7200C= (p.Asn2400=)
c.6198C= (p.Asn2066=)
c.646C=
c.7399C= (n.7399C=)
c.406C=
c.7254C= (p.Asn2418=)
c.7230C= (p.Asn2410=)
c.7290C= (p.Asn2430=)
17g.31349193C>GCA399016798NF1c.7245C>G (p.Asn2415Lys)
c.1827C>G (p.Asn609Lys)
c.1419C>G (p.Asn473Lys)
n.3908C>G
c.313C>G
c.7293C>G (p.Asn2431Lys)
c.7263C>G (p.Asn2421Lys)
c.7200C>G (p.Asn2400Lys)
c.6198C>G (p.Asn2066Lys)
c.646C>G
c.7399C>G (n.7399C>G)
c.406C>G
c.7254C>G (p.Asn2418Lys)
c.7230C>G (p.Asn2410Lys)
c.7290C>G (p.Asn2430Lys)
 dbSNP
17g.31349193C>TCA499239113NF1c.7245C>T (p.Asn2415=)
c.1827C>T (p.Asn609=)
c.1419C>T (p.Asn473=)
n.3908C>T
c.313C>T
c.7293C>T (p.Asn2431=)
c.7263C>T (p.Asn2421=)
c.7200C>T (p.Asn2400=)
c.6198C>T (p.Asn2066=)
c.646C>T
c.7399C>T (n.7399C>T)
c.406C>T
c.7254C>T (p.Asn2418=)
c.7230C>T (p.Asn2410=)
c.7290C>T (p.Asn2430=)
 ClinVar dbSNP gnomAD v4
17g.31349194A>CCA399016799NF1c.7246A>C (p.Lys2416Gln)
c.1828A>C (p.Lys610Gln)
c.1420A>C (p.Lys474Gln)
n.3909A>C
c.314A>C
c.7294A>C (p.Lys2432Gln)
c.7264A>C (p.Lys2422Gln)
c.7201A>C (p.Lys2401Gln)
c.6199A>C (p.Lys2067Gln)
c.647A>C
c.7400A>C (n.7400A>C)
c.407A>C
c.7255A>C (p.Lys2419Gln)
c.7231A>C (p.Lys2411Gln)
c.7291A>C (p.Lys2431Gln)
17g.31349194A>GCA399016800NF1c.7246A>G (p.Lys2416Glu)
c.1828A>G (p.Lys610Glu)
c.1420A>G (p.Lys474Glu)
n.3909A>G
c.314A>G
c.7294A>G (p.Lys2432Glu)
c.7264A>G (p.Lys2422Glu)
c.7201A>G (p.Lys2401Glu)
c.6199A>G (p.Lys2067Glu)
c.647A>G
c.7400A>G (n.7400A>G)
c.407A>G
c.7255A>G (p.Lys2419Glu)
c.7231A>G (p.Lys2411Glu)
c.7291A>G (p.Lys2431Glu)
17g.31349194A>TCA399016801NF1c.7246A>T (p.Lys2416Ter)
c.1828A>T (p.Lys610Ter)
c.1420A>T (p.Lys474Ter)
n.3909A>T
c.314A>T
c.7294A>T (p.Lys2432Ter)
c.7264A>T (p.Lys2422Ter)
c.7201A>T (p.Lys2401Ter)
c.6199A>T (p.Lys2067Ter)
c.647A>T
c.7400A>T (n.7400A>T)
c.407A>T
c.7255A>T (p.Lys2419Ter)
c.7231A>T (p.Lys2411Ter)
c.7291A>T (p.Lys2431Ter)
 dbSNP
17g.31349196delCA2499224220NF1c.7248del (p.Lys2416AsnfsTer10)
c.1830del (p.Lys610AsnfsTer10)
c.1422del (p.Lys474AsnfsTer10)
n.3911del
c.316del
c.7296del (p.Lys2432AsnfsTer10)
c.7266del (p.Lys2422AsnfsTer10)
c.7203del (p.Lys2401AsnfsTer10)
c.6201del (p.Lys2067AsnfsTer10)
c.649del
c.7402del (n.7402del)
c.409del
c.7257del (p.Lys2419AsnfsTer10)
c.7233del (p.Lys2411AsnfsTer10)
c.7293del (p.Lys2431AsnfsTer10)
 ClinVar dbSNP
17g.31349195_31349196delCA2695225467NF1c.7247_7248del (p.Lys2416ThrfsTer5)
c.1829_1830del (p.Lys610ThrfsTer5)
c.1421_1422del (p.Lys474ThrfsTer5)
n.3910_3911del
c.315_316del
c.7295_7296del (p.Lys2432ThrfsTer5)
c.7265_7266del (p.Lys2422ThrfsTer5)
c.7202_7203del (p.Lys2401ThrfsTer5)
c.6200_6201del (p.Lys2067ThrfsTer5)
c.648_649del
c.7401_7402del (n.7401_7402del)
c.408_409del
c.7256_7257del (p.Lys2419ThrfsTer5)
c.7232_7233del (p.Lys2411ThrfsTer5)
c.7292_7293del (p.Lys2431ThrfsTer5)
17g.31349195A=CA2255607747NF1c.7247A= (p.Lys2416=)
c.1829A= (p.Lys610=)
c.1421A= (p.Lys474=)
n.3910A=
c.315A=
c.7295A= (p.Lys2432=)
c.7265A= (p.Lys2422=)
c.7202A= (p.Lys2401=)
c.6200A= (p.Lys2067=)
c.648A=
c.7401A= (n.7401A=)
c.408A=
c.7256A= (p.Lys2419=)
c.7232A= (p.Lys2411=)
c.7292A= (p.Lys2431=)
17g.31349195A>CCA399016804NF1c.7247A>C (p.Lys2416Thr)
c.1829A>C (p.Lys610Thr)
c.1421A>C (p.Lys474Thr)
n.3910A>C
c.315A>C
c.7295A>C (p.Lys2432Thr)
c.7265A>C (p.Lys2422Thr)
c.7202A>C (p.Lys2401Thr)
c.6200A>C (p.Lys2067Thr)
c.648A>C
c.7401A>C (n.7401A>C)
c.408A>C
c.7256A>C (p.Lys2419Thr)
c.7232A>C (p.Lys2411Thr)
c.7292A>C (p.Lys2431Thr)
17g.31349195A>GCA399016802NF1c.7247A>G (p.Lys2416Arg)
c.1829A>G (p.Lys610Arg)
c.1421A>G (p.Lys474Arg)
n.3910A>G
c.315A>G
c.7295A>G (p.Lys2432Arg)
c.7265A>G (p.Lys2422Arg)
c.7202A>G (p.Lys2401Arg)
c.6200A>G (p.Lys2067Arg)
c.648A>G
c.7401A>G (n.7401A>G)
c.408A>G
c.7256A>G (p.Lys2419Arg)
c.7232A>G (p.Lys2411Arg)
c.7292A>G (p.Lys2431Arg)
 ClinVar dbSNP gnomAD v4
17g.31349195A>TCA399016803NF1c.7247A>T (p.Lys2416Ile)
c.1829A>T (p.Lys610Ile)
c.1421A>T (p.Lys474Ile)
n.3910A>T
c.315A>T
c.7295A>T (p.Lys2432Ile)
c.7265A>T (p.Lys2422Ile)
c.7202A>T (p.Lys2401Ile)
c.6200A>T (p.Lys2067Ile)
c.648A>T
c.7401A>T (n.7401A>T)
c.408A>T
c.7256A>T (p.Lys2419Ile)
c.7232A>T (p.Lys2411Ile)
c.7292A>T (p.Lys2431Ile)
 dbSNP
17g.31349195_31349197delinsAACCA2255607746NF1c.7247_7249delinsAAC (p.Lys2416=)
c.1829_1831delinsAAC (p.Lys610=)
c.1421_1423delinsAAC (p.Lys474=)
n.3910_3912delinsAAC
c.315_317delinsAAC
c.7295_7297delinsAAC (p.Lys2432=)
c.7265_7267delinsAAC (p.Lys2422=)
c.7202_7204delinsAAC (p.Lys2401=)
c.6200_6202delinsAAC (p.Lys2067=)
c.648_650delinsAAC
c.7401_7403delinsAAC (n.7401_7403delinsAAC)
c.408_410delinsAAC
c.7256_7258delinsAAC (p.Lys2419=)
c.7232_7234delinsAAC (p.Lys2411=)
c.7292_7294delinsAAC (p.Lys2431=)
17g.31349196A>CCA399016805NF1c.7248A>C (p.Lys2416Asn)
c.1830A>C (p.Lys610Asn)
c.1422A>C (p.Lys474Asn)
n.3911A>C
c.316A>C
c.7296A>C (p.Lys2432Asn)
c.7266A>C (p.Lys2422Asn)
c.7203A>C (p.Lys2401Asn)
c.6201A>C (p.Lys2067Asn)
c.649A>C
c.7402A>C (n.7402A>C)
c.409A>C
c.7257A>C (p.Lys2419Asn)
c.7233A>C (p.Lys2411Asn)
c.7293A>C (p.Lys2431Asn)
17g.31349196A>GCA499239114NF1c.7248A>G (p.Lys2416=)
c.1830A>G (p.Lys610=)
c.1422A>G (p.Lys474=)
n.3911A>G
c.316A>G
c.7296A>G (p.Lys2432=)
c.7266A>G (p.Lys2422=)
c.7203A>G (p.Lys2401=)
c.6201A>G (p.Lys2067=)
c.649A>G
c.7402A>G (n.7402A>G)
c.409A>G
c.7257A>G (p.Lys2419=)
c.7233A>G (p.Lys2411=)
c.7293A>G (p.Lys2431=)
17g.31349196A>TCA399016806NF1c.7248A>T (p.Lys2416Asn)
c.1830A>T (p.Lys610Asn)
c.1422A>T (p.Lys474Asn)
n.3911A>T
c.316A>T
c.7296A>T (p.Lys2432Asn)
c.7266A>T (p.Lys2422Asn)
c.7203A>T (p.Lys2401Asn)
c.6201A>T (p.Lys2067Asn)
c.649A>T
c.7402A>T (n.7402A>T)
c.409A>T
c.7257A>T (p.Lys2419Asn)
c.7233A>T (p.Lys2411Asn)
c.7293A>T (p.Lys2431Asn)
 ClinVar dbSNP
17g.31349199_31349200delCA10583522NF1c.7251_7252del (p.His2417GlnfsTer4)
c.1833_1834del (p.His611GlnfsTer4)
c.1425_1426del (p.His475GlnfsTer4)
n.3914_3915del
c.319_320del
c.7299_7300del (p.His2433GlnfsTer4)
c.7269_7270del (p.His2423GlnfsTer4)
c.7206_7207del (p.His2402GlnfsTer4)
c.6204_6205del (p.His2068GlnfsTer4)
c.652_653del
c.7405_7406del (n.7405_7406del)
c.412_413del
c.7260_7261del (p.His2420GlnfsTer4)
c.7236_7237del (p.His2412GlnfsTer4)
c.7296_7297del (p.His2432GlnfsTer4)
 ClinVar dbSNP gnomAD v4
17g.31349197C>ACA399016807NF1c.7249C>A (p.His2417Asn)
c.1831C>A (p.His611Asn)
c.1423C>A (p.His475Asn)
n.3912C>A
c.317C>A
c.7297C>A (p.His2433Asn)
c.7267C>A (p.His2423Asn)
c.7204C>A (p.His2402Asn)
c.6202C>A (p.His2068Asn)
c.650C>A
c.7403C>A (n.7403C>A)
c.410C>A
c.7258C>A (p.His2420Asn)
c.7234C>A (p.His2412Asn)
c.7294C>A (p.His2432Asn)
 dbSNP
17g.31349197C=CA2255607748NF1c.7249C= (p.His2417=)
c.1831C= (p.His611=)
c.1423C= (p.His475=)
n.3912C=
c.317C=
c.7297C= (p.His2433=)
c.7267C= (p.His2423=)
c.7204C= (p.His2402=)
c.6202C= (p.His2068=)
c.650C=
c.7403C= (n.7403C=)
c.410C=
c.7258C= (p.His2420=)
c.7234C= (p.His2412=)
c.7294C= (p.His2432=)
17g.31349197C>GCA399016808NF1c.7249C>G (p.His2417Asp)
c.1831C>G (p.His611Asp)
c.1423C>G (p.His475Asp)
n.3912C>G
c.317C>G
c.7297C>G (p.His2433Asp)
c.7267C>G (p.His2423Asp)
c.7204C>G (p.His2402Asp)
c.6202C>G (p.His2068Asp)
c.650C>G
c.7403C>G (n.7403C>G)
c.410C>G
c.7258C>G (p.His2420Asp)
c.7234C>G (p.His2412Asp)
c.7294C>G (p.His2432Asp)
 dbSNP
17g.31349197C>TCA8487533NF1c.7249C>T (p.His2417Tyr)
c.1831C>T (p.His611Tyr)
c.1423C>T (p.His475Tyr)
n.3912C>T
c.317C>T
c.7297C>T (p.His2433Tyr)
c.7267C>T (p.His2423Tyr)
c.7204C>T (p.His2402Tyr)
c.6202C>T (p.His2068Tyr)
c.650C>T
c.7403C>T (n.7403C>T)
c.410C>T
c.7258C>T (p.His2420Tyr)
c.7234C>T (p.His2412Tyr)
c.7294C>T (p.His2432Tyr)
 ClinVar dbSNP ExAC gnomAD v2
17g.31349197_31349198delinsCACA2255607749NF1c.7249_7250delinsCA (p.His2417=)
c.1831_1832delinsCA (p.His611=)
c.1423_1424delinsCA (p.His475=)
n.3912_3913delinsCA
c.317_318delinsCA
c.7297_7298delinsCA (p.His2433=)
c.7267_7268delinsCA (p.His2423=)
c.7204_7205delinsCA (p.His2402=)
c.6202_6203delinsCA (p.His2068=)
c.650_651delinsCA
c.7403_7404delinsCA (n.7403_7404delinsCA)
c.410_411delinsCA
c.7258_7259delinsCA (p.His2420=)
c.7234_7235delinsCA (p.His2412=)
c.7294_7295delinsCA (p.His2432=)
17g.31349198delCA658761018NF1c.7250del (p.His2417ProfsTer9)
c.1832del (p.His611ProfsTer9)
c.1424del (p.His475ProfsTer9)
n.3913del
c.318del
c.7298del (p.His2433ProfsTer9)
c.7268del (p.His2423ProfsTer9)
c.7205del (p.His2402ProfsTer9)
c.6203del (p.His2068ProfsTer9)
c.651del
c.7404del (n.7404del)
c.411del
c.7259del (p.His2420ProfsTer9)
c.7235del (p.His2412ProfsTer9)
c.7295del (p.His2432ProfsTer9)
 ClinVar dbSNP
17g.31349198A>CCA399016809NF1c.7250A>C (p.His2417Pro)
c.1832A>C (p.His611Pro)
c.1424A>C (p.His475Pro)
n.3913A>C
c.318A>C
c.7298A>C (p.His2433Pro)
c.7268A>C (p.His2423Pro)
c.7205A>C (p.His2402Pro)
c.6203A>C (p.His2068Pro)
c.651A>C
c.7404A>C (n.7404A>C)
c.411A>C
c.7259A>C (p.His2420Pro)
c.7235A>C (p.His2412Pro)
c.7295A>C (p.His2432Pro)
17g.31349198A>GCA399016810NF1c.7250A>G (p.His2417Arg)
c.1832A>G (p.His611Arg)
c.1424A>G (p.His475Arg)
n.3913A>G
c.318A>G
c.7298A>G (p.His2433Arg)
c.7268A>G (p.His2423Arg)
c.7205A>G (p.His2402Arg)
c.6203A>G (p.His2068Arg)
c.651A>G
c.7404A>G (n.7404A>G)
c.411A>G
c.7259A>G (p.His2420Arg)
c.7235A>G (p.His2412Arg)
c.7295A>G (p.His2432Arg)
17g.31349198A>TCA399016811NF1c.7250A>T (p.His2417Leu)
c.1832A>T (p.His611Leu)
c.1424A>T (p.His475Leu)
n.3913A>T
c.318A>T
c.7298A>T (p.His2433Leu)
c.7268A>T (p.His2423Leu)
c.7205A>T (p.His2402Leu)
c.6203A>T (p.His2068Leu)
c.651A>T
c.7404A>T (n.7404A>T)
c.411A>T
c.7259A>T (p.His2420Leu)
c.7235A>T (p.His2412Leu)
c.7295A>T (p.His2432Leu)
 dbSNP
17g.31349198dupCA2580093335NF1c.7250dup (p.His2417GlnfsTer5)
c.1832dup (p.His611GlnfsTer5)
c.1424dup (p.His475GlnfsTer5)
n.3913dup
c.318dup
c.7298dup (p.His2433GlnfsTer5)
c.7268dup (p.His2423GlnfsTer5)
c.7205dup (p.His2402GlnfsTer5)
c.6203dup (p.His2068GlnfsTer5)
c.651dup
c.7404dup (n.7404dup)
c.411dup
c.7259dup (p.His2420GlnfsTer5)
c.7235dup (p.His2412GlnfsTer5)
c.7295dup (p.His2432GlnfsTer5)
 ClinVar
17g.31349199C>ACA399016812NF1c.7251C>A (p.His2417Gln)
c.1833C>A (p.His611Gln)
c.1425C>A (p.His475Gln)
n.3914C>A
c.319C>A
c.7299C>A (p.His2433Gln)
c.7269C>A (p.His2423Gln)
c.7206C>A (p.His2402Gln)
c.6204C>A (p.His2068Gln)
c.652C>A
c.7405C>A (n.7405C>A)
c.412C>A
c.7260C>A (p.His2420Gln)
c.7236C>A (p.His2412Gln)
c.7296C>A (p.His2432Gln)
 ClinVar dbSNP
17g.31349199C>GCA399016813NF1c.7251C>G (p.His2417Gln)
c.1833C>G (p.His611Gln)
c.1425C>G (p.His475Gln)
n.3914C>G
c.319C>G
c.7299C>G (p.His2433Gln)
c.7269C>G (p.His2423Gln)
c.7206C>G (p.His2402Gln)
c.6204C>G (p.His2068Gln)
c.652C>G
c.7405C>G (n.7405C>G)
c.412C>G
c.7260C>G (p.His2420Gln)
c.7236C>G (p.His2412Gln)
c.7296C>G (p.His2432Gln)
 ClinVar dbSNP
17g.31349199C>TCA499239115NF1c.7251C>T (p.His2417=)
c.1833C>T (p.His611=)
c.1425C>T (p.His475=)
n.3914C>T
c.319C>T
c.7299C>T (p.His2433=)
c.7269C>T (p.His2423=)
c.7206C>T (p.His2402=)
c.6204C>T (p.His2068=)
c.652C>T
c.7405C>T (n.7405C>T)
c.412C>T
c.7260C>T (p.His2420=)
c.7236C>T (p.His2412=)
c.7296C>T (p.His2432=)
 ClinVar
17g.31349199_31349201delinsCAGCA2255607750NF1c.7251_7253delinsCAG (p.His2417=)
c.1833_1835delinsCAG (p.His611=)
c.1425_1427delinsCAG (p.His475=)
n.3914_3916delinsCAG
c.319_321delinsCAG
c.7299_7301delinsCAG (p.His2433=)
c.7269_7271delinsCAG (p.His2423=)
c.7206_7208delinsCAG (p.His2402=)
c.6204_6206delinsCAG (p.His2068=)
c.652_654delinsCAG
c.7405_7407delinsCAG (n.7405_7407delinsCAG)
c.412_414delinsCAG
c.7260_7262delinsCAG (p.His2420=)
c.7236_7238delinsCAG (p.His2412=)
c.7296_7298delinsCAG (p.His2432=)
17g.31349200A>CCA499239116NF1c.7252A>C (p.Arg2418=)
c.1834A>C (p.Arg612=)
c.1426A>C (p.Arg476=)
n.3915A>C
c.320A>C
c.7300A>C (p.Arg2434=)
c.7270A>C (p.Arg2424=)
c.7207A>C (p.Arg2403=)
c.6205A>C (p.Arg2069=)
c.653A>C
c.7406A>C (n.7406A>C)
c.413A>C
c.7261A>C (p.Arg2421=)
c.7237A>C (p.Arg2413=)
c.7297A>C (p.Arg2433=)
17g.31349200A>GCA399016814NF1c.7252A>G (p.Arg2418Gly)
c.1834A>G (p.Arg612Gly)
c.1426A>G (p.Arg476Gly)
n.3915A>G
c.320A>G
c.7300A>G (p.Arg2434Gly)
c.7270A>G (p.Arg2424Gly)
c.7207A>G (p.Arg2403Gly)
c.6205A>G (p.Arg2069Gly)
c.653A>G
c.7406A>G (n.7406A>G)
c.413A>G
c.7261A>G (p.Arg2421Gly)
c.7237A>G (p.Arg2413Gly)
c.7297A>G (p.Arg2433Gly)
 dbSNP
17g.31349200A>TCA399016815NF1c.7252A>T (p.Arg2418Ter)
c.1834A>T (p.Arg612Ter)
c.1426A>T (p.Arg476Ter)
n.3915A>T
c.320A>T
c.7300A>T (p.Arg2434Ter)
c.7270A>T (p.Arg2424Ter)
c.7207A>T (p.Arg2403Ter)
c.6205A>T (p.Arg2069Ter)
c.653A>T
c.7406A>T (n.7406A>T)
c.413A>T
c.7261A>T (p.Arg2421Ter)
c.7237A>T (p.Arg2413Ter)
c.7297A>T (p.Arg2433Ter)
17g.31349201_31349202delCA658761019NF1c.7253_7254del (p.Arg2418LysfsTer3)
c.1835_1836del (p.Arg612LysfsTer3)
c.1427_1428del (p.Arg476LysfsTer3)
n.3916_3917del
c.321_322del
c.7301_7302del (p.Arg2434LysfsTer3)
c.7271_7272del (p.Arg2424LysfsTer3)
c.7208_7209del (p.Arg2403LysfsTer3)
c.6206_6207del (p.Arg2069LysfsTer3)
c.654_655del
c.7407_7408del (n.7407_7408del)
c.414_415del
c.7262_7263del (p.Arg2421LysfsTer3)
c.7238_7239del (p.Arg2413LysfsTer3)
c.7298_7299del (p.Arg2433LysfsTer3)
 ClinVar dbSNP
17g.31349201delCA2697559570NF1c.7253del (p.Arg2418LysfsTer8)
c.1835del (p.Arg612LysfsTer8)
c.1427del (p.Arg476LysfsTer8)
n.3916del
c.321del
c.7301del (p.Arg2434LysfsTer8)
c.7271del (p.Arg2424LysfsTer8)
c.7208del (p.Arg2403LysfsTer8)
c.6206del (p.Arg2069LysfsTer8)
c.654del
c.7407del (n.7407del)
c.414del
c.7262del (p.Arg2421LysfsTer8)
c.7238del (p.Arg2413LysfsTer8)
c.7298del (p.Arg2433LysfsTer8)
 ClinVar
17g.31349201G>ACA399016816NF1c.7253G>A (p.Arg2418Lys)
c.1835G>A (p.Arg612Lys)
c.1427G>A (p.Arg476Lys)
n.3916G>A
c.321G>A
c.7301G>A (p.Arg2434Lys)
c.7271G>A (p.Arg2424Lys)
c.7208G>A (p.Arg2403Lys)
c.6206G>A (p.Arg2069Lys)
c.654G>A
c.7407G>A (n.7407G>A)
c.414G>A
c.7262G>A (p.Arg2421Lys)
c.7238G>A (p.Arg2413Lys)
c.7298G>A (p.Arg2433Lys)
 dbSNP
17g.31349201G>CCA399016818NF1c.7253G>C (p.Arg2418Thr)
c.1835G>C (p.Arg612Thr)
c.1427G>C (p.Arg476Thr)
n.3916G>C
c.321G>C
c.7301G>C (p.Arg2434Thr)
c.7271G>C (p.Arg2424Thr)
c.7208G>C (p.Arg2403Thr)
c.6206G>C (p.Arg2069Thr)
c.654G>C
c.7407G>C (n.7407G>C)
c.414G>C
c.7262G>C (p.Arg2421Thr)
c.7238G>C (p.Arg2413Thr)
c.7298G>C (p.Arg2433Thr)
 dbSNP
17g.31349201G=CA2255607752NF1c.7253G= (p.Arg2418=)
c.1835G= (p.Arg612=)
c.1427G= (p.Arg476=)
n.3916G=
c.321G=
c.7301G= (p.Arg2434=)
c.7271G= (p.Arg2424=)
c.7208G= (p.Arg2403=)
c.6206G= (p.Arg2069=)
c.654G=
c.7407G= (n.7407G=)
c.414G=
c.7262G= (p.Arg2421=)
c.7238G= (p.Arg2413=)
c.7298G= (p.Arg2433=)
17g.31349201G>TCA399016817NF1c.7253G>T (p.Arg2418Ile)
c.1835G>T (p.Arg612Ile)
c.1427G>T (p.Arg476Ile)
n.3916G>T
c.321G>T
c.7301G>T (p.Arg2434Ile)
c.7271G>T (p.Arg2424Ile)
c.7208G>T (p.Arg2403Ile)
c.6206G>T (p.Arg2069Ile)
c.654G>T
c.7407G>T (n.7407G>T)
c.414G>T
c.7262G>T (p.Arg2421Ile)
c.7238G>T (p.Arg2413Ile)
c.7298G>T (p.Arg2433Ile)
 ClinVar dbSNP
17g.31349201_31349202delinsGACA2255607751NF1c.7253_7254delinsGA (p.Arg2418=)
c.1835_1836delinsGA (p.Arg612=)
c.1427_1428delinsGA (p.Arg476=)
n.3916_3917delinsGA
c.321_322delinsGA
c.7301_7302delinsGA (p.Arg2434=)
c.7271_7272delinsGA (p.Arg2424=)
c.7208_7209delinsGA (p.Arg2403=)
c.6206_6207delinsGA (p.Arg2069=)
c.654_655delinsGA
c.7407_7408delinsGA (n.7407_7408delinsGA)
c.414_415delinsGA
c.7262_7263delinsGA (p.Arg2421=)
c.7238_7239delinsGA (p.Arg2413=)
c.7298_7299delinsGA (p.Arg2433=)
17g.31349202A=CA2255607753NF1c.7254A= (p.Arg2418=)
c.1836A= (p.Arg612=)
c.1428A= (p.Arg476=)
n.3917A=
c.322A=
c.7302A= (p.Arg2434=)
c.7272A= (p.Arg2424=)
c.7209A= (p.Arg2403=)
c.6207A= (p.Arg2069=)
c.655A=
c.7408A= (n.7408A=)
c.415A=
c.7263A= (p.Arg2421=)
c.7239A= (p.Arg2413=)
c.7299A= (p.Arg2433=)
17g.31349202A>CCA289400925NF1c.7254A>C (p.Arg2418Ser)
c.1836A>C (p.Arg612Ser)
c.1428A>C (p.Arg476Ser)
n.3917A>C
c.322A>C
c.7302A>C (p.Arg2434Ser)
c.7272A>C (p.Arg2424Ser)
c.7209A>C (p.Arg2403Ser)
c.6207A>C (p.Arg2069Ser)
c.655A>C
c.7408A>C (n.7408A>C)
c.415A>C
c.7263A>C (p.Arg2421Ser)
c.7239A>C (p.Arg2413Ser)
c.7299A>C (p.Arg2433Ser)
 ClinVar dbSNP gnomAD v4
17g.31349202A>GCA499239117NF1c.7254A>G (p.Arg2418=)
c.1836A>G (p.Arg612=)
c.1428A>G (p.Arg476=)
n.3917A>G
c.322A>G
c.7302A>G (p.Arg2434=)
c.7272A>G (p.Arg2424=)
c.7209A>G (p.Arg2403=)
c.6207A>G (p.Arg2069=)
c.655A>G
c.7408A>G (n.7408A>G)
c.415A>G
c.7263A>G (p.Arg2421=)
c.7239A>G (p.Arg2413=)
c.7299A>G (p.Arg2433=)
 ClinVar dbSNP
17g.31349202A>TCA399016819NF1c.7254A>T (p.Arg2418Ser)
c.1836A>T (p.Arg612Ser)
c.1428A>T (p.Arg476Ser)
n.3917A>T
c.322A>T
c.7302A>T (p.Arg2434Ser)
c.7272A>T (p.Arg2424Ser)
c.7209A>T (p.Arg2403Ser)
c.6207A>T (p.Arg2069Ser)
c.655A>T
c.7408A>T (n.7408A>T)
c.415A>T
c.7263A>T (p.Arg2421Ser)
c.7239A>T (p.Arg2413Ser)
c.7299A>T (p.Arg2433Ser)
17g.31349204delCA658798781NF1c.7256del (p.Asn2419IlefsTer7)
c.1838del (p.Asn613IlefsTer7)
c.1430del (p.Asn477IlefsTer7)
n.3919del
c.324del
c.7304del (p.Asn2435IlefsTer7)
c.7274del (p.Asn2425IlefsTer7)
c.7211del (p.Asn2404IlefsTer7)
c.6209del (p.Asn2070IlefsTer7)
c.657del
c.7410del (n.7410del)
c.417del
c.7265del (p.Asn2422IlefsTer7)
c.7241del (p.Asn2414IlefsTer7)
c.7301del (p.Asn2434IlefsTer7)
 ClinVar dbSNP
17g.31349203A>CCA399016820NF1c.7255A>C (p.Asn2419His)
c.1837A>C (p.Asn613His)
c.1429A>C (p.Asn477His)
n.3918A>C
c.323A>C
c.7303A>C (p.Asn2435His)
c.7273A>C (p.Asn2425His)
c.7210A>C (p.Asn2404His)
c.6208A>C (p.Asn2070His)
c.656A>C
c.7409A>C (n.7409A>C)
c.416A>C
c.7264A>C (p.Asn2422His)
c.7240A>C (p.Asn2414His)
c.7300A>C (p.Asn2434His)
17g.31349203A>GCA399016821NF1c.7255A>G (p.Asn2419Asp)
c.1837A>G (p.Asn613Asp)
c.1429A>G (p.Asn477Asp)
n.3918A>G
c.323A>G
c.7303A>G (p.Asn2435Asp)
c.7273A>G (p.Asn2425Asp)
c.7210A>G (p.Asn2404Asp)
c.6208A>G (p.Asn2070Asp)
c.656A>G
c.7409A>G (n.7409A>G)
c.416A>G
c.7264A>G (p.Asn2422Asp)
c.7240A>G (p.Asn2414Asp)
c.7300A>G (p.Asn2434Asp)
17g.31349203A>TCA399016822NF1c.7255A>T (p.Asn2419Tyr)
c.1837A>T (p.Asn613Tyr)
c.1429A>T (p.Asn477Tyr)
n.3918A>T
c.323A>T
c.7303A>T (p.Asn2435Tyr)
c.7273A>T (p.Asn2425Tyr)
c.7210A>T (p.Asn2404Tyr)
c.6208A>T (p.Asn2070Tyr)
c.656A>T
c.7409A>T (n.7409A>T)
c.416A>T
c.7264A>T (p.Asn2422Tyr)
c.7240A>T (p.Asn2414Tyr)
c.7300A>T (p.Asn2434Tyr)
17g.31349204A=CA2255607754NF1c.7256A= (p.Asn2419=)
c.1838A= (p.Asn613=)
c.1430A= (p.Asn477=)
n.3919A=
c.324A=
c.7304A= (p.Asn2435=)
c.7274A= (p.Asn2425=)
c.7211A= (p.Asn2404=)
c.6209A= (p.Asn2070=)
c.657A=
c.7410A= (n.7410A=)
c.417A=
c.7265A= (p.Asn2422=)
c.7241A= (p.Asn2414=)
c.7301A= (p.Asn2434=)
17g.31349204A>CCA399016823NF1c.7256A>C (p.Asn2419Thr)
c.1838A>C (p.Asn613Thr)
c.1430A>C (p.Asn477Thr)
n.3919A>C
c.324A>C
c.7304A>C (p.Asn2435Thr)
c.7274A>C (p.Asn2425Thr)
c.7211A>C (p.Asn2404Thr)
c.6209A>C (p.Asn2070Thr)
c.657A>C
c.7410A>C (n.7410A>C)
c.417A>C
c.7265A>C (p.Asn2422Thr)
c.7241A>C (p.Asn2414Thr)
c.7301A>C (p.Asn2434Thr)
 ClinVar
17g.31349204A>GCA399016824NF1c.7256A>G (p.Asn2419Ser)
c.1838A>G (p.Asn613Ser)
c.1430A>G (p.Asn477Ser)
n.3919A>G
c.324A>G
c.7304A>G (p.Asn2435Ser)
c.7274A>G (p.Asn2425Ser)
c.7211A>G (p.Asn2404Ser)
c.6209A>G (p.Asn2070Ser)
c.657A>G
c.7410A>G (n.7410A>G)
c.417A>G
c.7265A>G (p.Asn2422Ser)
c.7241A>G (p.Asn2414Ser)
c.7301A>G (p.Asn2434Ser)
 ClinVar dbSNP
17g.31349204A>TCA399016825NF1c.7256A>T (p.Asn2419Ile)
c.1838A>T (p.Asn613Ile)
c.1430A>T (p.Asn477Ile)
n.3919A>T
c.324A>T
c.7304A>T (p.Asn2435Ile)
c.7274A>T (p.Asn2425Ile)
c.7211A>T (p.Asn2404Ile)
c.6209A>T (p.Asn2070Ile)
c.657A>T
c.7410A>T (n.7410A>T)
c.417A>T
c.7265A>T (p.Asn2422Ile)
c.7241A>T (p.Asn2414Ile)
c.7301A>T (p.Asn2434Ile)
17g.31349205T>ACA399016826NF1c.7257T>A (p.Asn2419Lys)
c.1839T>A (p.Asn613Lys)
c.1431T>A (p.Asn477Lys)
n.3920T>A
c.325T>A
c.7305T>A (p.Asn2435Lys)
c.7275T>A (p.Asn2425Lys)
c.7212T>A (p.Asn2404Lys)
c.6210T>A (p.Asn2070Lys)
c.658T>A
c.7411T>A (n.7411T>A)
c.418T>A
c.7266T>A (p.Asn2422Lys)
c.7242T>A (p.Asn2414Lys)
c.7302T>A (p.Asn2434Lys)
 dbSNP
17g.31349205T>CCA16615324NF1c.7257T>C (p.Asn2419=)
c.1839T>C (p.Asn613=)
c.1431T>C (p.Asn477=)
n.3920T>C
c.325T>C
c.7305T>C (p.Asn2435=)
c.7275T>C (p.Asn2425=)
c.7212T>C (p.Asn2404=)
c.6210T>C (p.Asn2070=)
c.658T>C
c.7411T>C (n.7411T>C)
c.418T>C
c.7266T>C (p.Asn2422=)
c.7242T>C (p.Asn2414=)
c.7302T>C (p.Asn2434=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31349205T>GCA399016827NF1c.7257T>G (p.Asn2419Lys)
c.1839T>G (p.Asn613Lys)
c.1431T>G (p.Asn477Lys)
n.3920T>G
c.325T>G
c.7305T>G (p.Asn2435Lys)
c.7275T>G (p.Asn2425Lys)
c.7212T>G (p.Asn2404Lys)
c.6210T>G (p.Asn2070Lys)
c.658T>G
c.7411T>G (n.7411T>G)
c.418T>G
c.7266T>G (p.Asn2422Lys)
c.7242T>G (p.Asn2414Lys)
c.7302T>G (p.Asn2434Lys)
17g.31349205T=CA2255607755NF1c.7257T= (p.Asn2419=)
c.1839T= (p.Asn613=)
c.1431T= (p.Asn477=)
n.3920T=
c.325T=
c.7305T= (p.Asn2435=)
c.7275T= (p.Asn2425=)
c.7212T= (p.Asn2404=)
c.6210T= (p.Asn2070=)
c.658T=
c.7411T= (n.7411T=)
c.418T=
c.7266T= (p.Asn2422=)
c.7242T= (p.Asn2414=)
c.7302T= (p.Asn2434=)
17g.31349205_31349207delinsTTGCA2255607756NF1c.7257_7259delinsTTG (p.Asn2419=)
c.1839_1841delinsTTG (p.Asn613=)
c.1431_1433delinsTTG (p.Asn477=)
n.3920_3922delinsTTG
c.325_327delinsTTG
c.7305_7307delinsTTG (p.Asn2435=)
c.7275_7277delinsTTG (p.Asn2425=)
c.7212_7214delinsTTG (p.Asn2404=)
c.6210_6212delinsTTG (p.Asn2070=)
c.658_660delinsTTG
c.7411_7413delinsTTG (n.7411_7413delinsTTG)
c.418_420delinsTTG
c.7266_7268delinsTTG (p.Asn2422=)
c.7242_7244delinsTTG (p.Asn2414=)
c.7302_7304delinsTTG (p.Asn2434=)
17g.31349206T>ACA399016828NF1c.7258T>A (p.Cys2420Ser)
c.1840T>A (p.Cys614Ser)
c.1432T>A (p.Cys478Ser)
n.3921T>A
c.326T>A
c.7306T>A (p.Cys2436Ser)
c.7276T>A (p.Cys2426Ser)
c.7213T>A (p.Cys2405Ser)
c.6211T>A (p.Cys2071Ser)
c.659T>A
c.7412T>A (n.7412T>A)
c.419T>A
c.7267T>A (p.Cys2423Ser)
c.7243T>A (p.Cys2415Ser)
c.7303T>A (p.Cys2435Ser)
 dbSNP
17g.31349206T>CCA399016829NF1c.7258T>C (p.Cys2420Arg)
c.1840T>C (p.Cys614Arg)
c.1432T>C (p.Cys478Arg)
n.3921T>C
c.326T>C
c.7306T>C (p.Cys2436Arg)
c.7276T>C (p.Cys2426Arg)
c.7213T>C (p.Cys2405Arg)
c.6211T>C (p.Cys2071Arg)
c.659T>C
c.7412T>C (n.7412T>C)
c.419T>C
c.7267T>C (p.Cys2423Arg)
c.7243T>C (p.Cys2415Arg)
c.7303T>C (p.Cys2435Arg)
 dbSNP
17g.31349206T>GCA8487534NF1c.7258T>G (p.Cys2420Gly)
c.1840T>G (p.Cys614Gly)
c.1432T>G (p.Cys478Gly)
n.3921T>G
c.326T>G
c.7306T>G (p.Cys2436Gly)
c.7276T>G (p.Cys2426Gly)
c.7213T>G (p.Cys2405Gly)
c.6211T>G (p.Cys2071Gly)
c.659T>G
c.7412T>G (n.7412T>G)
c.419T>G
c.7267T>G (p.Cys2423Gly)
c.7243T>G (p.Cys2415Gly)
c.7303T>G (p.Cys2435Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31349206T=CA2255607757NF1c.7258T= (p.Cys2420=)
c.1840T= (p.Cys614=)
c.1432T= (p.Cys478=)
n.3921T=
c.326T=
c.7306T= (p.Cys2436=)
c.7276T= (p.Cys2426=)
c.7213T= (p.Cys2405=)
c.6211T= (p.Cys2071=)
c.659T=
c.7412T= (n.7412T=)
c.419T=
c.7267T= (p.Cys2423=)
c.7243T= (p.Cys2415=)
c.7303T= (p.Cys2435=)
17g.31349208_31349209delCA645572263NF1c.7260_7261del (p.Cys2420Ter)
c.1842_1843del (p.Cys614Ter)
c.1434_1435del (p.Cys478Ter)
n.3923_3924del
c.328_329del
c.7308_7309del (p.Cys2436Ter)
c.7278_7279del (p.Cys2426Ter)
c.7215_7216del (p.Cys2405Ter)
c.6213_6214del (p.Cys2071Ter)
c.661_662del
c.7414_7415del (n.7414_7415del)
c.421_422del
c.7269_7270del (p.Cys2423Ter)
c.7245_7246del (p.Cys2415Ter)
c.7305_7306del (p.Cys2435Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31349207G>ACA399016832NF1c.7259G>A (p.Cys2420Tyr)
c.1841G>A (p.Cys614Tyr)
c.1433G>A (p.Cys478Tyr)
n.3922G>A
c.327G>A
c.7307G>A (p.Cys2436Tyr)
c.7277G>A (p.Cys2426Tyr)
c.7214G>A (p.Cys2405Tyr)
c.6212G>A (p.Cys2071Tyr)
c.660G>A
c.7413G>A (n.7413G>A)
c.420G>A
c.7268G>A (p.Cys2423Tyr)
c.7244G>A (p.Cys2415Tyr)
c.7304G>A (p.Cys2435Tyr)
 gnomAD v4
17g.31349207G>CCA399016830NF1c.7259G>C (p.Cys2420Ser)
c.1841G>C (p.Cys614Ser)
c.1433G>C (p.Cys478Ser)
n.3922G>C
c.327G>C
c.7307G>C (p.Cys2436Ser)
c.7277G>C (p.Cys2426Ser)
c.7214G>C (p.Cys2405Ser)
c.6212G>C (p.Cys2071Ser)
c.660G>C
c.7413G>C (n.7413G>C)
c.420G>C
c.7268G>C (p.Cys2423Ser)
c.7244G>C (p.Cys2415Ser)
c.7304G>C (p.Cys2435Ser)
 dbSNP
17g.31349207G>TCA399016831NF1c.7259G>T (p.Cys2420Phe)
c.1841G>T (p.Cys614Phe)
c.1433G>T (p.Cys478Phe)
n.3922G>T
c.327G>T
c.7307G>T (p.Cys2436Phe)
c.7277G>T (p.Cys2426Phe)
c.7214G>T (p.Cys2405Phe)
c.6212G>T (p.Cys2071Phe)
c.660G>T
c.7413G>T (n.7413G>T)
c.420G>T
c.7268G>T (p.Cys2423Phe)
c.7244G>T (p.Cys2415Phe)
c.7304G>T (p.Cys2435Phe)
17g.31349207_31349208delinsGTCA2255607758NF1c.7259_7260delinsGT (p.Cys2420=)
c.1841_1842delinsGT (p.Cys614=)
c.1433_1434delinsGT (p.Cys478=)
n.3922_3923delinsGT
c.327_328delinsGT
c.7307_7308delinsGT (p.Cys2436=)
c.7277_7278delinsGT (p.Cys2426=)
c.7214_7215delinsGT (p.Cys2405=)
c.6212_6213delinsGT (p.Cys2071=)
c.660_661delinsGT
c.7413_7414delinsGT (n.7413_7414delinsGT)
c.420_421delinsGT
c.7268_7269delinsGT (p.Cys2423=)
c.7244_7245delinsGT (p.Cys2415=)
c.7304_7305delinsGT (p.Cys2435=)
17g.31349208delCA1139665470NF1c.7260del (p.Cys2420TrpfsTer6)
c.1842del (p.Cys614TrpfsTer6)
c.1434del (p.Cys478TrpfsTer6)
n.3923del
c.328del
c.7308del (p.Cys2436TrpfsTer6)
c.7278del (p.Cys2426TrpfsTer6)
c.7215del (p.Cys2405TrpfsTer6)
c.6213del (p.Cys2071TrpfsTer6)
c.661del
c.7414del (n.7414del)
c.421del
c.7269del (p.Cys2423TrpfsTer6)
c.7245del (p.Cys2415TrpfsTer6)
c.7305del (p.Cys2435TrpfsTer6)
 ClinVar dbSNP
17g.31349208T>ACA399016833NF1c.7260T>A (p.Cys2420Ter)
c.1842T>A (p.Cys614Ter)
c.1434T>A (p.Cys478Ter)
n.3923T>A
c.328T>A
c.7308T>A (p.Cys2436Ter)
c.7278T>A (p.Cys2426Ter)
c.7215T>A (p.Cys2405Ter)
c.6213T>A (p.Cys2071Ter)
c.661T>A
c.7414T>A (n.7414T>A)
c.421T>A
c.7269T>A (p.Cys2423Ter)
c.7245T>A (p.Cys2415Ter)
c.7305T>A (p.Cys2435Ter)
 ClinVar dbSNP
17g.31349208T>CCA499239118NF1c.7260T>C (p.Cys2420=)
c.1842T>C (p.Cys614=)
c.1434T>C (p.Cys478=)
n.3923T>C
c.328T>C
c.7308T>C (p.Cys2436=)
c.7278T>C (p.Cys2426=)
c.7215T>C (p.Cys2405=)
c.6213T>C (p.Cys2071=)
c.661T>C
c.7414T>C (n.7414T>C)
c.421T>C
c.7269T>C (p.Cys2423=)
c.7245T>C (p.Cys2415=)
c.7305T>C (p.Cys2435=)
 ClinVar dbSNP gnomAD v4
17g.31349208T>GCA399016834NF1c.7260T>G (p.Cys2420Trp)
c.1842T>G (p.Cys614Trp)
c.1434T>G (p.Cys478Trp)
n.3923T>G
c.328T>G
c.7308T>G (p.Cys2436Trp)
c.7278T>G (p.Cys2426Trp)
c.7215T>G (p.Cys2405Trp)
c.6213T>G (p.Cys2071Trp)
c.661T>G
c.7414T>G (n.7414T>G)
c.421T>G
c.7269T>G (p.Cys2423Trp)
c.7245T>G (p.Cys2415Trp)
c.7305T>G (p.Cys2435Trp)
17g.31349208T=CA2255607759NF1c.7260T= (p.Cys2420=)
c.1842T= (p.Cys614=)
c.1434T= (p.Cys478=)
n.3923T=
c.328T=
c.7308T= (p.Cys2436=)
c.7278T= (p.Cys2426=)
c.7215T= (p.Cys2405=)
c.6213T= (p.Cys2071=)
c.661T=
c.7414T= (n.7414T=)
c.421T=
c.7269T= (p.Cys2423=)
c.7245T= (p.Cys2415=)
c.7305T= (p.Cys2435=)
17g.31349209G>ACA399016835NF1c.7261G>A (p.Asp2421Asn)
c.1843G>A (p.Asp615Asn)
c.1435G>A (p.Asp479Asn)
n.3924G>A
c.329G>A
c.7309G>A (p.Asp2437Asn)
c.7279G>A (p.Asp2427Asn)
c.7216G>A (p.Asp2406Asn)
c.6214G>A (p.Asp2072Asn)
c.662G>A
c.7415G>A (n.7415G>A)
c.422G>A
c.7270G>A (p.Asp2424Asn)
c.7246G>A (p.Asp2416Asn)
c.7306G>A (p.Asp2436Asn)
 dbSNP
17g.31349209G>CCA399016836NF1c.7261G>C (p.Asp2421His)
c.1843G>C (p.Asp615His)
c.1435G>C (p.Asp479His)
n.3924G>C
c.329G>C
c.7309G>C (p.Asp2437His)
c.7279G>C (p.Asp2427His)
c.7216G>C (p.Asp2406His)
c.6214G>C (p.Asp2072His)
c.662G>C
c.7415G>C (n.7415G>C)
c.422G>C
c.7270G>C (p.Asp2424His)
c.7246G>C (p.Asp2416His)
c.7306G>C (p.Asp2436His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31349209G=CA2255607760NF1c.7261G= (p.Asp2421=)
c.1843G= (p.Asp615=)
c.1435G= (p.Asp479=)
n.3924G=
c.329G=
c.7309G= (p.Asp2437=)
c.7279G= (p.Asp2427=)
c.7216G= (p.Asp2406=)
c.6214G= (p.Asp2072=)
c.662G=
c.7415G= (n.7415G=)
c.422G=
c.7270G= (p.Asp2424=)
c.7246G= (p.Asp2416=)
c.7306G= (p.Asp2436=)
17g.31349209G>TCA399016837NF1c.7261G>T (p.Asp2421Tyr)
c.1843G>T (p.Asp615Tyr)
c.1435G>T (p.Asp479Tyr)
n.3924G>T
c.329G>T
c.7309G>T (p.Asp2437Tyr)
c.7279G>T (p.Asp2427Tyr)
c.7216G>T (p.Asp2406Tyr)
c.6214G>T (p.Asp2072Tyr)
c.662G>T
c.7415G>T (n.7415G>T)
c.422G>T
c.7270G>T (p.Asp2424Tyr)
c.7246G>T (p.Asp2416Tyr)
c.7306G>T (p.Asp2436Tyr)
 dbSNP gnomAD v4
17g.31349210A=CA2255607761NF1c.7262A= (p.Asp2421=)
c.1844A= (p.Asp615=)
c.1436A= (p.Asp479=)
n.3925A=
c.330A=
c.7310A= (p.Asp2437=)
c.7280A= (p.Asp2427=)
c.7217A= (p.Asp2406=)
c.6215A= (p.Asp2072=)
c.663A=
c.7416A= (n.7416A=)
c.423A=
c.7271A= (p.Asp2424=)
c.7247A= (p.Asp2416=)
c.7307A= (p.Asp2436=)
17g.31349210A>CCA399016838NF1c.7262A>C (p.Asp2421Ala)
c.1844A>C (p.Asp615Ala)
c.1436A>C (p.Asp479Ala)
n.3925A>C
c.330A>C
c.7310A>C (p.Asp2437Ala)
c.7280A>C (p.Asp2427Ala)
c.7217A>C (p.Asp2406Ala)
c.6215A>C (p.Asp2072Ala)
c.663A>C
c.7416A>C (n.7416A>C)
c.423A>C
c.7271A>C (p.Asp2424Ala)
c.7247A>C (p.Asp2416Ala)
c.7307A>C (p.Asp2436Ala)
17g.31349210A>GCA399016839NF1c.7262A>G (p.Asp2421Gly)
c.1844A>G (p.Asp615Gly)
c.1436A>G (p.Asp479Gly)
n.3925A>G
c.330A>G
c.7310A>G (p.Asp2437Gly)
c.7280A>G (p.Asp2427Gly)
c.7217A>G (p.Asp2406Gly)
c.6215A>G (p.Asp2072Gly)
c.663A>G
c.7416A>G (n.7416A>G)
c.423A>G
c.7271A>G (p.Asp2424Gly)
c.7247A>G (p.Asp2416Gly)
c.7307A>G (p.Asp2436Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31349210A>TCA399016840NF1c.7262A>T (p.Asp2421Val)
c.1844A>T (p.Asp615Val)
c.1436A>T (p.Asp479Val)
n.3925A>T
c.330A>T
c.7310A>T (p.Asp2437Val)
c.7280A>T (p.Asp2427Val)
c.7217A>T (p.Asp2406Val)
c.6215A>T (p.Asp2072Val)
c.663A>T
c.7416A>T (n.7416A>T)
c.423A>T
c.7271A>T (p.Asp2424Val)
c.7247A>T (p.Asp2416Val)
c.7307A>T (p.Asp2436Val)
 dbSNP
17g.31349210_31349211delinsACCA2255607762NF1c.7262_7263delinsAC (p.Asp2421=)
c.1844_1845delinsAC (p.Asp615=)
c.1436_1437delinsAC (p.Asp479=)
n.3925_3926delinsAC
c.330_331delinsAC
c.7310_7311delinsAC (p.Asp2437=)
c.7280_7281delinsAC (p.Asp2427=)
c.7217_7218delinsAC (p.Asp2406=)
c.6215_6216delinsAC (p.Asp2072=)
c.663_664delinsAC
c.7416_7417delinsAC (n.7416_7417delinsAC)
c.423_424delinsAC
c.7271_7272delinsAC (p.Asp2424=)
c.7247_7248delinsAC (p.Asp2416=)
c.7307_7308delinsAC (p.Asp2436=)
17g.31349211delCA1139665471NF1c.7263del (p.Asp2421GlufsTer5)
c.1845del (p.Asp615GlufsTer5)
c.1437del (p.Asp479GlufsTer5)
n.3926del
c.331del
c.7311del (p.Asp2437GlufsTer5)
c.7281del (p.Asp2427GlufsTer5)
c.7218del (p.Asp2406GlufsTer5)
c.6216del (p.Asp2072GlufsTer5)
c.664del
c.7417del (n.7417del)
c.424del
c.7272del (p.Asp2424GlufsTer5)
c.7248del (p.Asp2416GlufsTer5)
c.7308del (p.Asp2436GlufsTer5)
 ClinVar dbSNP gnomAD v4
17g.31349211C>ACA399016841NF1c.7263C>A (p.Asp2421Glu)
c.1845C>A (p.Asp615Glu)
c.1437C>A (p.Asp479Glu)
n.3926C>A
c.331C>A
c.7311C>A (p.Asp2437Glu)
c.7281C>A (p.Asp2427Glu)
c.7218C>A (p.Asp2406Glu)
c.6216C>A (p.Asp2072Glu)
c.664C>A
c.7417C>A (n.7417C>A)
c.424C>A
c.7272C>A (p.Asp2424Glu)
c.7248C>A (p.Asp2416Glu)
c.7308C>A (p.Asp2436Glu)
 ClinVar dbSNP
17g.31349211C=CA2255607764NF1c.7263C= (p.Asp2421=)
c.1845C= (p.Asp615=)
c.1437C= (p.Asp479=)
n.3926C=
c.331C=
c.7311C= (p.Asp2437=)
c.7281C= (p.Asp2427=)
c.7218C= (p.Asp2406=)
c.6216C= (p.Asp2072=)
c.664C=
c.7417C= (n.7417C=)
c.424C=
c.7272C= (p.Asp2424=)
c.7248C= (p.Asp2416=)
c.7308C= (p.Asp2436=)
17g.31349211C>GCA399016842NF1c.7263C>G (p.Asp2421Glu)
c.1845C>G (p.Asp615Glu)
c.1437C>G (p.Asp479Glu)
n.3926C>G
c.331C>G
c.7311C>G (p.Asp2437Glu)
c.7281C>G (p.Asp2427Glu)
c.7218C>G (p.Asp2406Glu)
c.6216C>G (p.Asp2072Glu)
c.664C>G
c.7417C>G (n.7417C>G)
c.424C>G
c.7272C>G (p.Asp2424Glu)
c.7248C>G (p.Asp2416Glu)
c.7308C>G (p.Asp2436Glu)
 dbSNP
17g.31349211C>TCA499239119NF1c.7263C>T (p.Asp2421=)
c.1845C>T (p.Asp615=)
c.1437C>T (p.Asp479=)
n.3926C>T
c.331C>T
c.7311C>T (p.Asp2437=)
c.7281C>T (p.Asp2427=)
c.7218C>T (p.Asp2406=)
c.6216C>T (p.Asp2072=)
c.664C>T
c.7417C>T (n.7417C>T)
c.424C>T
c.7272C>T (p.Asp2424=)
c.7248C>T (p.Asp2416=)
c.7308C>T (p.Asp2436=)
 ClinVar dbSNP
17g.31349211_31349212delinsCACA2255607763NF1c.7263_7264delinsCA (p.Asp2421=)
c.1845_1846delinsCA (p.Asp615=)
c.1437_1438delinsCA (p.Asp479=)
n.3926_3927delinsCA
c.331_332delinsCA
c.7311_7312delinsCA (p.Asp2437=)
c.7281_7282delinsCA (p.Asp2427=)
c.7218_7219delinsCA (p.Asp2406=)
c.6216_6217delinsCA (p.Asp2072=)
c.664_665delinsCA
c.7417_7418delinsCA (n.7417_7418delinsCA)
c.424_425delinsCA
c.7272_7273delinsCA (p.Asp2424=)
c.7248_7249delinsCA (p.Asp2416=)
c.7308_7309delinsCA (p.Asp2436=)
17g.31349212A>CCA399016843NF1c.7264A>C (p.Lys2422Gln)
c.1846A>C (p.Lys616Gln)
c.1438A>C (p.Lys480Gln)
n.3927A>C
c.332A>C
c.7312A>C (p.Lys2438Gln)
c.7282A>C (p.Lys2428Gln)
c.7219A>C (p.Lys2407Gln)
c.6217A>C (p.Lys2073Gln)
c.665A>C
c.7418A>C (n.7418A>C)
c.425A>C
c.7273A>C (p.Lys2425Gln)
c.7249A>C (p.Lys2417Gln)
c.7309A>C (p.Lys2437Gln)
 ClinVar
17g.31349212A>GCA399016844NF1c.7264A>G (p.Lys2422Glu)
c.1846A>G (p.Lys616Glu)
c.1438A>G (p.Lys480Glu)
n.3927A>G
c.332A>G
c.7312A>G (p.Lys2438Glu)
c.7282A>G (p.Lys2428Glu)
c.7219A>G (p.Lys2407Glu)
c.6217A>G (p.Lys2073Glu)
c.665A>G
c.7418A>G (n.7418A>G)
c.425A>G
c.7273A>G (p.Lys2425Glu)
c.7249A>G (p.Lys2417Glu)
c.7309A>G (p.Lys2437Glu)
 dbSNP
17g.31349212A>TCA399016845NF1c.7264A>T (p.Lys2422Ter)
c.1846A>T (p.Lys616Ter)
c.1438A>T (p.Lys480Ter)
n.3927A>T
c.332A>T
c.7312A>T (p.Lys2438Ter)
c.7282A>T (p.Lys2428Ter)
c.7219A>T (p.Lys2407Ter)
c.6217A>T (p.Lys2073Ter)
c.665A>T
c.7418A>T (n.7418A>T)
c.425A>T
c.7273A>T (p.Lys2425Ter)
c.7249A>T (p.Lys2417Ter)
c.7309A>T (p.Lys2437Ter)
 COSMIC COSMIC COSMIC
17g.31349214delCA1139665472NF1c.7266del (p.Lys2422AsnfsTer4)
c.1848del (p.Lys616AsnfsTer4)
c.1440del (p.Lys480AsnfsTer4)
n.3929del
c.334del
c.7314del (p.Lys2438AsnfsTer4)
c.7284del (p.Lys2428AsnfsTer4)
c.7221del (p.Lys2407AsnfsTer4)
c.6219del (p.Lys2073AsnfsTer4)
c.667del
c.7420del (n.7420del)
c.427del
c.7275del (p.Lys2425AsnfsTer4)
c.7251del (p.Lys2417AsnfsTer4)
c.7311del (p.Lys2437AsnfsTer4)
 ClinVar dbSNP
17g.31349213A=CA2255607765NF1c.7265A= (p.Lys2422=)
c.1847A= (p.Lys616=)
c.1439A= (p.Lys480=)
n.3928A=
c.333A=
c.7313A= (p.Lys2438=)
c.7283A= (p.Lys2428=)
c.7220A= (p.Lys2407=)
c.6218A= (p.Lys2073=)
c.666A=
c.7419A= (n.7419A=)
c.426A=
c.7274A= (p.Lys2425=)
c.7250A= (p.Lys2417=)
c.7310A= (p.Lys2437=)
17g.31349213A>CCA399016847NF1c.7265A>C (p.Lys2422Thr)
c.1847A>C (p.Lys616Thr)
c.1439A>C (p.Lys480Thr)
n.3928A>C
c.333A>C
c.7313A>C (p.Lys2438Thr)
c.7283A>C (p.Lys2428Thr)
c.7220A>C (p.Lys2407Thr)
c.6218A>C (p.Lys2073Thr)
c.666A>C
c.7419A>C (n.7419A>C)
c.426A>C
c.7274A>C (p.Lys2425Thr)
c.7250A>C (p.Lys2417Thr)
c.7310A>C (p.Lys2437Thr)
17g.31349213A>GCA399016848NF1c.7265A>G (p.Lys2422Arg)
c.1847A>G (p.Lys616Arg)
c.1439A>G (p.Lys480Arg)
n.3928A>G
c.333A>G
c.7313A>G (p.Lys2438Arg)
c.7283A>G (p.Lys2428Arg)
c.7220A>G (p.Lys2407Arg)
c.6218A>G (p.Lys2073Arg)
c.666A>G
c.7419A>G (n.7419A>G)
c.426A>G
c.7274A>G (p.Lys2425Arg)
c.7250A>G (p.Lys2417Arg)
c.7310A>G (p.Lys2437Arg)
17g.31349213A>TCA399016846NF1c.7265A>T (p.Lys2422Ile)
c.1847A>T (p.Lys616Ile)
c.1439A>T (p.Lys480Ile)
n.3928A>T
c.333A>T
c.7313A>T (p.Lys2438Ile)
c.7283A>T (p.Lys2428Ile)
c.7220A>T (p.Lys2407Ile)
c.6218A>T (p.Lys2073Ile)
c.666A>T
c.7419A>T (n.7419A>T)
c.426A>T
c.7274A>T (p.Lys2425Ile)
c.7250A>T (p.Lys2417Ile)
c.7310A>T (p.Lys2437Ile)
 ClinVar dbSNP
17g.31349214A=CA2255607767NF1c.7266A= (p.Lys2422=)
c.1848A= (p.Lys616=)
c.1440A= (p.Lys480=)
n.3929A=
c.334A=
c.7314A= (p.Lys2438=)
c.7284A= (p.Lys2428=)
c.7221A= (p.Lys2407=)
c.6219A= (p.Lys2073=)
c.667A=
c.7420A= (n.7420A=)
c.427A=
c.7275A= (p.Lys2425=)
c.7251A= (p.Lys2417=)
c.7311A= (p.Lys2437=)
17g.31349214A>CCA399016850NF1c.7266A>C (p.Lys2422Asn)
c.1848A>C (p.Lys616Asn)
c.1440A>C (p.Lys480Asn)
n.3929A>C
c.334A>C
c.7314A>C (p.Lys2438Asn)
c.7284A>C (p.Lys2428Asn)
c.7221A>C (p.Lys2407Asn)
c.6219A>C (p.Lys2073Asn)
c.667A>C
c.7420A>C (n.7420A>C)
c.427A>C
c.7275A>C (p.Lys2425Asn)
c.7251A>C (p.Lys2417Asn)
c.7311A>C (p.Lys2437Asn)
 dbSNP gnomAD v3 gnomAD v4
17g.31349214A>GCA499239120NF1c.7266A>G (p.Lys2422=)
c.1848A>G (p.Lys616=)
c.1440A>G (p.Lys480=)
n.3929A>G
c.334A>G
c.7314A>G (p.Lys2438=)
c.7284A>G (p.Lys2428=)
c.7221A>G (p.Lys2407=)
c.6219A>G (p.Lys2073=)
c.667A>G
c.7420A>G (n.7420A>G)
c.427A>G
c.7275A>G (p.Lys2425=)
c.7251A>G (p.Lys2417=)
c.7311A>G (p.Lys2437=)
 ClinVar dbSNP
17g.31349214A>TCA399016849NF1c.7266A>T (p.Lys2422Asn)
c.1848A>T (p.Lys616Asn)
c.1440A>T (p.Lys480Asn)
n.3929A>T
c.334A>T
c.7314A>T (p.Lys2438Asn)
c.7284A>T (p.Lys2428Asn)
c.7221A>T (p.Lys2407Asn)
c.6219A>T (p.Lys2073Asn)
c.667A>T
c.7420A>T (n.7420A>T)
c.427A>T
c.7275A>T (p.Lys2425Asn)
c.7251A>T (p.Lys2417Asn)
c.7311A>T (p.Lys2437Asn)
 dbSNP
17g.31349214_31349215delinsATCA2255607766NF1c.7266_7267delinsAT (p.Lys2422=)
c.1848_1849delinsAT (p.Lys616=)
c.1440_1441delinsAT (p.Lys480=)
n.3929_3930delinsAT
c.334_335delinsAT
c.7314_7315delinsAT (p.Lys2438=)
c.7284_7285delinsAT (p.Lys2428=)
c.7221_7222delinsAT (p.Lys2407=)
c.6219_6220delinsAT (p.Lys2073=)
c.667_668delinsAT
c.7420_7421delinsAT (n.7420_7421delinsAT)
c.427_428delinsAT
c.7275_7276delinsAT (p.Lys2425=)
c.7251_7252delinsAT (p.Lys2417=)
c.7311_7312delinsAT (p.Lys2437=)
17g.31349215T>ACA399016852NF1c.7267T>A (p.Phe2423Ile)
c.1849T>A (p.Phe617Ile)
c.1441T>A (p.Phe481Ile)
n.3930T>A
c.335T>A
c.7315T>A (p.Phe2439Ile)
c.7285T>A (p.Phe2429Ile)
c.7222T>A (p.Phe2408Ile)
c.6220T>A (p.Phe2074Ile)
c.668T>A
c.7421T>A (n.7421T>A)
c.428T>A
c.7276T>A (p.Phe2426Ile)
c.7252T>A (p.Phe2418Ile)
c.7312T>A (p.Phe2438Ile)
 dbSNP
17g.31349215T>CCA399016851NF1c.7267T>C (p.Phe2423Leu)
c.1849T>C (p.Phe617Leu)
c.1441T>C (p.Phe481Leu)
n.3930T>C
c.335T>C
c.7315T>C (p.Phe2439Leu)
c.7285T>C (p.Phe2429Leu)
c.7222T>C (p.Phe2408Leu)
c.6220T>C (p.Phe2074Leu)
c.668T>C
c.7421T>C (n.7421T>C)
c.428T>C
c.7276T>C (p.Phe2426Leu)
c.7252T>C (p.Phe2418Leu)
c.7312T>C (p.Phe2438Leu)
17g.31349215T>GCA399016853NF1c.7267T>G (p.Phe2423Val)
c.1849T>G (p.Phe617Val)
c.1441T>G (p.Phe481Val)
n.3930T>G
c.335T>G
c.7315T>G (p.Phe2439Val)
c.7285T>G (p.Phe2429Val)
c.7222T>G (p.Phe2408Val)
c.6220T>G (p.Phe2074Val)
c.668T>G
c.7421T>G (n.7421T>G)
c.428T>G
c.7276T>G (p.Phe2426Val)
c.7252T>G (p.Phe2418Val)
c.7312T>G (p.Phe2438Val)
17g.31349217delCA645373111NF1c.7269del (p.Phe2423LeufsTer3)
c.1851del (p.Phe617LeufsTer3)
c.1443del (p.Phe481LeufsTer3)
n.3932del
c.337del
c.7317del (p.Phe2439LeufsTer3)
c.7287del (p.Phe2429LeufsTer3)
c.7224del (p.Phe2408LeufsTer3)
c.6222del (p.Phe2074LeufsTer3)
c.670del
c.7423del (n.7423del)
c.430del
c.7278del (p.Phe2426LeufsTer3)
c.7254del (p.Phe2418LeufsTer3)
c.7314del (p.Phe2438LeufsTer3)
 ClinVar dbSNP
17g.31349216T>ACA8487535NF1c.7268T>A (p.Phe2423Tyr)
c.1850T>A (p.Phe617Tyr)
c.1442T>A (p.Phe481Tyr)
n.3931T>A
c.336T>A
c.7316T>A (p.Phe2439Tyr)
c.7286T>A (p.Phe2429Tyr)
c.7223T>A (p.Phe2408Tyr)
c.6221T>A (p.Phe2074Tyr)
c.669T>A
c.7422T>A (n.7422T>A)
c.429T>A
c.7277T>A (p.Phe2426Tyr)
c.7253T>A (p.Phe2418Tyr)
c.7313T>A (p.Phe2438Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31349216T>CCA399016854NF1c.7268T>C (p.Phe2423Ser)
c.1850T>C (p.Phe617Ser)
c.1442T>C (p.Phe481Ser)
n.3931T>C
c.336T>C
c.7316T>C (p.Phe2439Ser)
c.7286T>C (p.Phe2429Ser)
c.7223T>C (p.Phe2408Ser)
c.6221T>C (p.Phe2074Ser)
c.669T>C
c.7422T>C (n.7422T>C)
c.429T>C
c.7277T>C (p.Phe2426Ser)
c.7253T>C (p.Phe2418Ser)
c.7313T>C (p.Phe2438Ser)
 ClinVar gnomAD v4
17g.31349216T>GCA399016855NF1c.7268T>G (p.Phe2423Cys)
c.1850T>G (p.Phe617Cys)
c.1442T>G (p.Phe481Cys)
n.3931T>G
c.336T>G
c.7316T>G (p.Phe2439Cys)
c.7286T>G (p.Phe2429Cys)
c.7223T>G (p.Phe2408Cys)
c.6221T>G (p.Phe2074Cys)
c.669T>G
c.7422T>G (n.7422T>G)
c.429T>G
c.7277T>G (p.Phe2426Cys)
c.7253T>G (p.Phe2418Cys)
c.7313T>G (p.Phe2438Cys)
17g.31349216T=CA2255607768NF1c.7268T= (p.Phe2423=)
c.1850T= (p.Phe617=)
c.1442T= (p.Phe481=)
n.3931T=
c.336T=
c.7316T= (p.Phe2439=)
c.7286T= (p.Phe2429=)
c.7223T= (p.Phe2408=)
c.6221T= (p.Phe2074=)
c.669T=
c.7422T= (n.7422T=)
c.429T=
c.7277T= (p.Phe2426=)
c.7253T= (p.Phe2418=)
c.7313T= (p.Phe2438=)
17g.31349217T>ACA399016856NF1c.7269T>A (p.Phe2423Leu)
c.1851T>A (p.Phe617Leu)
c.1443T>A (p.Phe481Leu)
n.3932T>A
c.337T>A
c.7317T>A (p.Phe2439Leu)
c.7287T>A (p.Phe2429Leu)
c.7224T>A (p.Phe2408Leu)
c.6222T>A (p.Phe2074Leu)
c.670T>A
c.7423T>A (n.7423T>A)
c.430T>A
c.7278T>A (p.Phe2426Leu)
c.7254T>A (p.Phe2418Leu)
c.7314T>A (p.Phe2438Leu)
17g.31349217T>CCA499239121NF1c.7269T>C (p.Phe2423=)
c.1851T>C (p.Phe617=)
c.1443T>C (p.Phe481=)
n.3932T>C
c.337T>C
c.7317T>C (p.Phe2439=)
c.7287T>C (p.Phe2429=)
c.7224T>C (p.Phe2408=)
c.6222T>C (p.Phe2074=)
c.670T>C
c.7423T>C (n.7423T>C)
c.430T>C
c.7278T>C (p.Phe2426=)
c.7254T>C (p.Phe2418=)
c.7314T>C (p.Phe2438=)
17g.31349217T>GCA399016857NF1c.7269T>G (p.Phe2423Leu)
c.1851T>G (p.Phe617Leu)
c.1443T>G (p.Phe481Leu)
n.3932T>G
c.337T>G
c.7317T>G (p.Phe2439Leu)
c.7287T>G (p.Phe2429Leu)
c.7224T>G (p.Phe2408Leu)
c.6222T>G (p.Phe2074Leu)
c.670T>G
c.7423T>G (n.7423T>G)
c.430T>G
c.7278T>G (p.Phe2426Leu)
c.7254T>G (p.Phe2418Leu)
c.7314T>G (p.Phe2438Leu)
17g.31349221_31349225delCA2580093340NF1c.7273_7277del (p.Val2425TyrfsTer15)
c.1855_1859del (p.Val619TyrfsTer15)
c.1447_1451del (p.Val483TyrfsTer15)
n.3936_3940del
c.341_345del
c.7321_7325del (p.Val2441TyrfsTer15)
c.7291_7295del (p.Val2431TyrfsTer15)
c.7228_7232del (p.Val2410TyrfsTer15)
c.6226_6230del (p.Val2076TyrfsTer15)
c.674_678del
c.7427_7431del (n.7427_7431del)
c.434_438del
c.7282_7286del (p.Val2428TyrfsTer15)
c.7258_7262del (p.Val2420TyrfsTer15)
c.7318_7322del (p.Val2440TyrfsTer15)
 ClinVar
17g.31349218G>ACA399016858NF1c.7270G>A (p.Glu2424Lys)
c.1852G>A (p.Glu618Lys)
c.1444G>A (p.Glu482Lys)
n.3933G>A
c.338G>A
c.7318G>A (p.Glu2440Lys)
c.7288G>A (p.Glu2430Lys)
c.7225G>A (p.Glu2409Lys)
c.6223G>A (p.Glu2075Lys)
c.671G>A
c.7424G>A (n.7424G>A)
c.431G>A
c.7279G>A (p.Glu2427Lys)
c.7255G>A (p.Glu2419Lys)
c.7315G>A (p.Glu2439Lys)
 dbSNP
17g.31349218G>CCA399016859NF1c.7270G>C (p.Glu2424Gln)
c.1852G>C (p.Glu618Gln)
c.1444G>C (p.Glu482Gln)
n.3933G>C
c.338G>C
c.7318G>C (p.Glu2440Gln)
c.7288G>C (p.Glu2430Gln)
c.7225G>C (p.Glu2409Gln)
c.6223G>C (p.Glu2075Gln)
c.671G>C
c.7424G>C (n.7424G>C)
c.431G>C
c.7279G>C (p.Glu2427Gln)
c.7255G>C (p.Glu2419Gln)
c.7315G>C (p.Glu2439Gln)
 dbSNP
17g.31349218G=CA2255607770NF1c.7270G= (p.Glu2424=)
c.1852G= (p.Glu618=)
c.1444G= (p.Glu482=)
n.3933G=
c.338G=
c.7318G= (p.Glu2440=)
c.7288G= (p.Glu2430=)
c.7225G= (p.Glu2409=)
c.6223G= (p.Glu2075=)
c.671G=
c.7424G= (n.7424G=)
c.431G=
c.7279G= (p.Glu2427=)
c.7255G= (p.Glu2419=)
c.7315G= (p.Glu2439=)
17g.31349218G>TCA399016860NF1c.7270G>T (p.Glu2424Ter)
c.1852G>T (p.Glu618Ter)
c.1444G>T (p.Glu482Ter)
n.3933G>T
c.338G>T
c.7318G>T (p.Glu2440Ter)
c.7288G>T (p.Glu2430Ter)
c.7225G>T (p.Glu2409Ter)
c.6223G>T (p.Glu2075Ter)
c.671G>T
c.7424G>T (n.7424G>T)
c.431G>T
c.7279G>T (p.Glu2427Ter)
c.7255G>T (p.Glu2419Ter)
c.7315G>T (p.Glu2439Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31349218_31349219delinsGACA2255607769NF1c.7270_7271delinsGA (p.Glu2424=)
c.1852_1853delinsGA (p.Glu618=)
c.1444_1445delinsGA (p.Glu482=)
n.3933_3934delinsGA
c.338_339delinsGA
c.7318_7319delinsGA (p.Glu2440=)
c.7288_7289delinsGA (p.Glu2430=)
c.7225_7226delinsGA (p.Glu2409=)
c.6223_6224delinsGA (p.Glu2075=)
c.671_672delinsGA
c.7424_7425delinsGA (n.7424_7425delinsGA)
c.431_432delinsGA
c.7279_7280delinsGA (p.Glu2427=)
c.7255_7256delinsGA (p.Glu2419=)
c.7315_7316delinsGA (p.Glu2439=)
17g.31349219A=CA2255607771NF1c.7271A= (p.Glu2424=)
c.1853A= (p.Glu618=)
c.1445A= (p.Glu482=)
n.3934A=
c.339A=
c.7319A= (p.Glu2440=)
c.7289A= (p.Glu2430=)
c.7226A= (p.Glu2409=)
c.6224A= (p.Glu2075=)
c.672A=
c.7425A= (n.7425A=)
c.432A=
c.7280A= (p.Glu2427=)
c.7256A= (p.Glu2419=)
c.7316A= (p.Glu2439=)
17g.31349219A>CCA10580402NF1c.7271A>C (p.Glu2424Ala)
c.1853A>C (p.Glu618Ala)
c.1445A>C (p.Glu482Ala)
n.3934A>C
c.339A>C
c.7319A>C (p.Glu2440Ala)
c.7289A>C (p.Glu2430Ala)
c.7226A>C (p.Glu2409Ala)
c.6224A>C (p.Glu2075Ala)
c.672A>C
c.7425A>C (n.7425A>C)
c.432A>C
c.7280A>C (p.Glu2427Ala)
c.7256A>C (p.Glu2419Ala)
c.7316A>C (p.Glu2439Ala)
 ClinVar dbSNP
17g.31349219A>GCA399016861NF1c.7271A>G (p.Glu2424Gly)
c.1853A>G (p.Glu618Gly)
c.1445A>G (p.Glu482Gly)
n.3934A>G
c.339A>G
c.7319A>G (p.Glu2440Gly)
c.7289A>G (p.Glu2430Gly)
c.7226A>G (p.Glu2409Gly)
c.6224A>G (p.Glu2075Gly)
c.672A>G
c.7425A>G (n.7425A>G)
c.432A>G
c.7280A>G (p.Glu2427Gly)
c.7256A>G (p.Glu2419Gly)
c.7316A>G (p.Glu2439Gly)
 dbSNP
17g.31349219A>TCA399016862NF1c.7271A>T (p.Glu2424Val)
c.1853A>T (p.Glu618Val)
c.1445A>T (p.Glu482Val)
n.3934A>T
c.339A>T
c.7319A>T (p.Glu2440Val)
c.7289A>T (p.Glu2430Val)
c.7226A>T (p.Glu2409Val)
c.6224A>T (p.Glu2075Val)
c.672A>T
c.7425A>T (n.7425A>T)
c.432A>T
c.7280A>T (p.Glu2427Val)
c.7256A>T (p.Glu2419Val)
c.7316A>T (p.Glu2439Val)
17g.31349220delCA1139665473NF1c.7272del (p.Val2425Ter)
c.1854del (p.Val619Ter)
c.1446del (p.Val483Ter)
n.3935del
c.340del
c.7320del (p.Val2441Ter)
c.7290del (p.Val2431Ter)
c.7227del (p.Val2410Ter)
c.6225del (p.Val2076Ter)
c.673del
c.7426del (n.7426del)
c.433del
c.7281del (p.Val2428Ter)
c.7257del (p.Val2420Ter)
c.7317del (p.Val2440Ter)
 ClinVar dbSNP
17g.31349220A=CA2255607772NF1c.7272A= (p.Glu2424=)
c.1854A= (p.Glu618=)
c.1446A= (p.Glu482=)
n.3935A=
c.340A=
c.7320A= (p.Glu2440=)
c.7290A= (p.Glu2430=)
c.7227A= (p.Glu2409=)
c.6225A= (p.Glu2075=)
c.673A=
c.7426A= (n.7426A=)
c.433A=
c.7281A= (p.Glu2427=)
c.7257A= (p.Glu2419=)
c.7317A= (p.Glu2439=)
17g.31349220A>CCA399016863NF1c.7272A>C (p.Glu2424Asp)
c.1854A>C (p.Glu618Asp)
c.1446A>C (p.Glu482Asp)
n.3935A>C
c.340A>C
c.7320A>C (p.Glu2440Asp)
c.7290A>C (p.Glu2430Asp)
c.7227A>C (p.Glu2409Asp)
c.6225A>C (p.Glu2075Asp)
c.673A>C
c.7426A>C (n.7426A>C)
c.433A>C
c.7281A>C (p.Glu2427Asp)
c.7257A>C (p.Glu2419Asp)
c.7317A>C (p.Glu2439Asp)
17g.31349220A>GCA499239122NF1c.7272A>G (p.Glu2424=)
c.1854A>G (p.Glu618=)
c.1446A>G (p.Glu482=)
n.3935A>G
c.340A>G
c.7320A>G (p.Glu2440=)
c.7290A>G (p.Glu2430=)
c.7227A>G (p.Glu2409=)
c.6225A>G (p.Glu2075=)
c.673A>G
c.7426A>G (n.7426A>G)
c.433A>G
c.7281A>G (p.Glu2427=)
c.7257A>G (p.Glu2419=)
c.7317A>G (p.Glu2439=)
 ClinVar dbSNP
17g.31349220A>TCA399016864NF1c.7272A>T (p.Glu2424Asp)
c.1854A>T (p.Glu618Asp)
c.1446A>T (p.Glu482Asp)
n.3935A>T
c.340A>T
c.7320A>T (p.Glu2440Asp)
c.7290A>T (p.Glu2430Asp)
c.7227A>T (p.Glu2409Asp)
c.6225A>T (p.Glu2075Asp)
c.673A>T
c.7426A>T (n.7426A>T)
c.433A>T
c.7281A>T (p.Glu2427Asp)
c.7257A>T (p.Glu2419Asp)
c.7317A>T (p.Glu2439Asp)
 dbSNP
17g.31349221G>ACA399016867NF1c.7273G>A (p.Val2425Met)
c.1855G>A (p.Val619Met)
c.1447G>A (p.Val483Met)
n.3936G>A
c.341G>A
c.7321G>A (p.Val2441Met)
c.7291G>A (p.Val2431Met)
c.7228G>A (p.Val2410Met)
c.6226G>A (p.Val2076Met)
c.674G>A
c.7427G>A (n.7427G>A)
c.434G>A
c.7282G>A (p.Val2428Met)
c.7258G>A (p.Val2420Met)
c.7318G>A (p.Val2440Met)
 ClinVar dbSNP gnomAD v4
17g.31349221G>CCA399016865NF1c.7273G>C (p.Val2425Leu)
c.1855G>C (p.Val619Leu)
c.1447G>C (p.Val483Leu)
n.3936G>C
c.341G>C
c.7321G>C (p.Val2441Leu)
c.7291G>C (p.Val2431Leu)
c.7228G>C (p.Val2410Leu)
c.6226G>C (p.Val2076Leu)
c.674G>C
c.7427G>C (n.7427G>C)
c.434G>C
c.7282G>C (p.Val2428Leu)
c.7258G>C (p.Val2420Leu)
c.7318G>C (p.Val2440Leu)
 dbSNP
17g.31349221G=CA2255607773NF1c.7273G= (p.Val2425=)
c.1855G= (p.Val619=)
c.1447G= (p.Val483=)
n.3936G=
c.341G=
c.7321G= (p.Val2441=)
c.7291G= (p.Val2431=)
c.7228G= (p.Val2410=)
c.6226G= (p.Val2076=)
c.674G=
c.7427G= (n.7427G=)
c.434G=
c.7282G= (p.Val2428=)
c.7258G= (p.Val2420=)
c.7318G= (p.Val2440=)
17g.31349221G>TCA399016866NF1c.7273G>T (p.Val2425Leu)
c.1855G>T (p.Val619Leu)
c.1447G>T (p.Val483Leu)
n.3936G>T
c.341G>T
c.7321G>T (p.Val2441Leu)
c.7291G>T (p.Val2431Leu)
c.7228G>T (p.Val2410Leu)
c.6226G>T (p.Val2076Leu)
c.674G>T
c.7427G>T (n.7427G>T)
c.434G>T
c.7282G>T (p.Val2428Leu)
c.7258G>T (p.Val2420Leu)
c.7318G>T (p.Val2440Leu)
17g.31349222T>ACA399016868NF1c.7274T>A (p.Val2425Glu)
c.1856T>A (p.Val619Glu)
c.1448T>A (p.Val483Glu)
n.3937T>A
c.342T>A
c.7322T>A (p.Val2441Glu)
c.7292T>A (p.Val2431Glu)
c.7229T>A (p.Val2410Glu)
c.6227T>A (p.Val2076Glu)
c.675T>A
c.7428T>A (n.7428T>A)
c.435T>A
c.7283T>A (p.Val2428Glu)
c.7259T>A (p.Val2420Glu)
c.7319T>A (p.Val2440Glu)
 dbSNP
17g.31349222T>CCA399016869NF1c.7274T>C (p.Val2425Ala)
c.1856T>C (p.Val619Ala)
c.1448T>C (p.Val483Ala)
n.3937T>C
c.342T>C
c.7322T>C (p.Val2441Ala)
c.7292T>C (p.Val2431Ala)
c.7229T>C (p.Val2410Ala)
c.6227T>C (p.Val2076Ala)
c.675T>C
c.7428T>C (n.7428T>C)
c.435T>C
c.7283T>C (p.Val2428Ala)
c.7259T>C (p.Val2420Ala)
c.7319T>C (p.Val2440Ala)
 ClinVar dbSNP
17g.31349222T>GCA399016870NF1c.7274T>G (p.Val2425Gly)
c.1856T>G (p.Val619Gly)
c.1448T>G (p.Val483Gly)
n.3937T>G
c.342T>G
c.7322T>G (p.Val2441Gly)
c.7292T>G (p.Val2431Gly)
c.7229T>G (p.Val2410Gly)
c.6227T>G (p.Val2076Gly)
c.675T>G
c.7428T>G (n.7428T>G)
c.435T>G
c.7283T>G (p.Val2428Gly)
c.7259T>G (p.Val2420Gly)
c.7319T>G (p.Val2440Gly)
 ClinVar dbSNP
17g.31349222T=CA2255607774NF1c.7274T= (p.Val2425=)
c.1856T= (p.Val619=)
c.1448T= (p.Val483=)
n.3937T=
c.342T=
c.7322T= (p.Val2441=)
c.7292T= (p.Val2431=)
c.7229T= (p.Val2410=)
c.6227T= (p.Val2076=)
c.675T=
c.7428T= (n.7428T=)
c.435T=
c.7283T= (p.Val2428=)
c.7259T= (p.Val2420=)
c.7319T= (p.Val2440=)
17g.31349222dupCA2697559575NF1c.7274dup (p.Asn2426GlufsTer16)
c.1856dup (p.Asn620GlufsTer16)
c.1448dup (p.Asn484GlufsTer16)
n.3937dup
c.342dup
c.7322dup (p.Asn2442GlufsTer16)
c.7292dup (p.Asn2432GlufsTer16)
c.7229dup (p.Asn2411GlufsTer16)
c.6227dup (p.Asn2077GlufsTer16)
c.675dup
c.7428dup (n.7428dup)
c.435dup
c.7283dup (p.Asn2429GlufsTer16)
c.7259dup (p.Asn2421GlufsTer16)
c.7319dup (p.Asn2441GlufsTer16)
 ClinVar
17g.31349223G>ACA499239125NF1c.7275G>A (p.Val2425=)
c.1857G>A (p.Val619=)
c.1449G>A (p.Val483=)
n.3938G>A
c.343G>A
c.7323G>A (p.Val2441=)
c.7293G>A (p.Val2431=)
c.7230G>A (p.Val2410=)
c.6228G>A (p.Val2076=)
c.676G>A
c.7429G>A (n.7429G>A)
c.436G>A
c.7284G>A (p.Val2428=)
c.7260G>A (p.Val2420=)
c.7320G>A (p.Val2440=)
 dbSNP
17g.31349223G>CCA499239124NF1c.7275G>C (p.Val2425=)
c.1857G>C (p.Val619=)
c.1449G>C (p.Val483=)
n.3938G>C
c.343G>C
c.7323G>C (p.Val2441=)
c.7293G>C (p.Val2431=)
c.7230G>C (p.Val2410=)
c.6228G>C (p.Val2076=)
c.676G>C
c.7429G>C (n.7429G>C)
c.436G>C
c.7284G>C (p.Val2428=)
c.7260G>C (p.Val2420=)
c.7320G>C (p.Val2440=)
 dbSNP gnomAD v4
17g.31349223G>TCA499239123NF1c.7275G>T (p.Val2425=)
c.1857G>T (p.Val619=)
c.1449G>T (p.Val483=)
n.3938G>T
c.343G>T
c.7323G>T (p.Val2441=)
c.7293G>T (p.Val2431=)
c.7230G>T (p.Val2410=)
c.6228G>T (p.Val2076=)
c.676G>T
c.7429G>T (n.7429G>T)
c.436G>T
c.7284G>T (p.Val2428=)
c.7260G>T (p.Val2420=)
c.7320G>T (p.Val2440=)
 dbSNP
17g.31349224A>CCA399016871NF1c.7276A>C (p.Asn2426His)
c.1858A>C (p.Asn620His)
c.1450A>C (p.Asn484His)
n.3939A>C
c.344A>C
c.7324A>C (p.Asn2442His)
c.7294A>C (p.Asn2432His)
c.7231A>C (p.Asn2411His)
c.6229A>C (p.Asn2077His)
c.677A>C
c.7430A>C (n.7430A>C)
c.437A>C
c.7285A>C (p.Asn2429His)
c.7261A>C (p.Asn2421His)
c.7321A>C (p.Asn2441His)
 ClinVar
17g.31349224A>GCA399016872NF1c.7276A>G (p.Asn2426Asp)
c.1858A>G (p.Asn620Asp)
c.1450A>G (p.Asn484Asp)
n.3939A>G
c.344A>G
c.7324A>G (p.Asn2442Asp)
c.7294A>G (p.Asn2432Asp)
c.7231A>G (p.Asn2411Asp)
c.6229A>G (p.Asn2077Asp)
c.677A>G
c.7430A>G (n.7430A>G)
c.437A>G
c.7285A>G (p.Asn2429Asp)
c.7261A>G (p.Asn2421Asp)
c.7321A>G (p.Asn2441Asp)
17g.31349224A>TCA399016873NF1c.7276A>T (p.Asn2426Tyr)
c.1858A>T (p.Asn620Tyr)
c.1450A>T (p.Asn484Tyr)
n.3939A>T
c.344A>T
c.7324A>T (p.Asn2442Tyr)
c.7294A>T (p.Asn2432Tyr)
c.7231A>T (p.Asn2411Tyr)
c.6229A>T (p.Asn2077Tyr)
c.677A>T
c.7430A>T (n.7430A>T)
c.437A>T
c.7285A>T (p.Asn2429Tyr)
c.7261A>T (p.Asn2421Tyr)
c.7321A>T (p.Asn2441Tyr)
 dbSNP
17g.31349225dupCA2695225468NF1c.7277dup (p.Asn2426LysfsTer16)
c.1859dup (p.Asn620LysfsTer16)
c.1451dup (p.Asn484LysfsTer16)
n.3940dup
c.345dup
c.7325dup (p.Asn2442LysfsTer16)
c.7295dup (p.Asn2432LysfsTer16)
c.7232dup (p.Asn2411LysfsTer16)
c.6230dup (p.Asn2077LysfsTer16)
c.678dup
c.7431dup (n.7431dup)
c.438dup
c.7286dup (p.Asn2429LysfsTer16)
c.7262dup (p.Asn2421LysfsTer16)
c.7322dup (p.Asn2441LysfsTer16)
17g.31349225A=CA2255607775NF1c.7277A= (p.Asn2426=)
c.1859A= (p.Asn620=)
c.1451A= (p.Asn484=)
n.3940A=
c.345A=
c.7325A= (p.Asn2442=)
c.7295A= (p.Asn2432=)
c.7232A= (p.Asn2411=)
c.6230A= (p.Asn2077=)
c.678A=
c.7431A= (n.7431A=)
c.438A=
c.7286A= (p.Asn2429=)
c.7262A= (p.Asn2421=)
c.7322A= (p.Asn2441=)
17g.31349225A>CCA399016874NF1c.7277A>C (p.Asn2426Thr)
c.1859A>C (p.Asn620Thr)
c.1451A>C (p.Asn484Thr)
n.3940A>C
c.345A>C
c.7325A>C (p.Asn2442Thr)
c.7295A>C (p.Asn2432Thr)
c.7232A>C (p.Asn2411Thr)
c.6230A>C (p.Asn2077Thr)
c.678A>C
c.7431A>C (n.7431A>C)
c.438A>C
c.7286A>C (p.Asn2429Thr)
c.7262A>C (p.Asn2421Thr)
c.7322A>C (p.Asn2441Thr)
 dbSNP
17g.31349225A>GCA399016875NF1c.7277A>G (p.Asn2426Ser)
c.1859A>G (p.Asn620Ser)
c.1451A>G (p.Asn484Ser)
n.3940A>G
c.345A>G
c.7325A>G (p.Asn2442Ser)
c.7295A>G (p.Asn2432Ser)
c.7232A>G (p.Asn2411Ser)
c.6230A>G (p.Asn2077Ser)
c.678A>G
c.7431A>G (n.7431A>G)
c.438A>G
c.7286A>G (p.Asn2429Ser)
c.7262A>G (p.Asn2421Ser)
c.7322A>G (p.Asn2441Ser)
 ClinVar dbSNP
17g.31349225A>TCA399016876NF1c.7277A>T (p.Asn2426Ile)
c.1859A>T (p.Asn620Ile)
c.1451A>T (p.Asn484Ile)
n.3940A>T
c.345A>T
c.7325A>T (p.Asn2442Ile)
c.7295A>T (p.Asn2432Ile)
c.7232A>T (p.Asn2411Ile)
c.6230A>T (p.Asn2077Ile)
c.678A>T
c.7431A>T (n.7431A>T)
c.438A>T
c.7286A>T (p.Asn2429Ile)
c.7262A>T (p.Asn2421Ile)
c.7322A>T (p.Asn2441Ile)
17g.31349226T>ACA399016877NF1c.7278T>A (p.Asn2426Lys)
c.1860T>A (p.Asn620Lys)
c.1452T>A (p.Asn484Lys)
n.3941T>A
c.346T>A
c.7326T>A (p.Asn2442Lys)
c.7296T>A (p.Asn2432Lys)
c.7233T>A (p.Asn2411Lys)
c.6231T>A (p.Asn2077Lys)
c.679T>A
c.7432T>A (n.7432T>A)
c.439T>A
c.7287T>A (p.Asn2429Lys)
c.7263T>A (p.Asn2421Lys)
c.7323T>A (p.Asn2441Lys)
 dbSNP
17g.31349226T>CCA499239126NF1c.7278T>C (p.Asn2426=)
c.1860T>C (p.Asn620=)
c.1452T>C (p.Asn484=)
n.3941T>C
c.346T>C
c.7326T>C (p.Asn2442=)
c.7296T>C (p.Asn2432=)
c.7233T>C (p.Asn2411=)
c.6231T>C (p.Asn2077=)
c.679T>C
c.7432T>C (n.7432T>C)
c.439T>C
c.7287T>C (p.Asn2429=)
c.7263T>C (p.Asn2421=)
c.7323T>C (p.Asn2441=)
17g.31349226T>GCA399016878NF1c.7278T>G (p.Asn2426Lys)
c.1860T>G (p.Asn620Lys)
c.1452T>G (p.Asn484Lys)
n.3941T>G
c.346T>G
c.7326T>G (p.Asn2442Lys)
c.7296T>G (p.Asn2432Lys)
c.7233T>G (p.Asn2411Lys)
c.6231T>G (p.Asn2077Lys)
c.679T>G
c.7432T>G (n.7432T>G)
c.439T>G
c.7287T>G (p.Asn2429Lys)
c.7263T>G (p.Asn2421Lys)
c.7323T>G (p.Asn2441Lys)
 dbSNP
17g.31349227A=CA2255607776NF1c.7279A= (p.Thr2427=)
c.1861A= (p.Thr621=)
c.1453A= (p.Thr485=)
n.3942A=
c.347A=
c.7327A= (p.Thr2443=)
c.7297A= (p.Thr2433=)
c.7234A= (p.Thr2412=)
c.6232A= (p.Thr2078=)
c.680A=
c.7433A= (n.7433A=)
c.440A=
c.7288A= (p.Thr2430=)
c.7264A= (p.Thr2422=)
c.7324A= (p.Thr2442=)
17g.31349227A>CCA399016881NF1c.7279A>C (p.Thr2427Pro)
c.1861A>C (p.Thr621Pro)
c.1453A>C (p.Thr485Pro)
n.3942A>C
c.347A>C
c.7327A>C (p.Thr2443Pro)
c.7297A>C (p.Thr2433Pro)
c.7234A>C (p.Thr2412Pro)
c.6232A>C (p.Thr2078Pro)
c.680A>C
c.7433A>C (n.7433A>C)
c.440A>C
c.7288A>C (p.Thr2430Pro)
c.7264A>C (p.Thr2422Pro)
c.7324A>C (p.Thr2442Pro)
 dbSNP
17g.31349227A>GCA399016880NF1c.7279A>G (p.Thr2427Ala)
c.1861A>G (p.Thr621Ala)
c.1453A>G (p.Thr485Ala)
n.3942A>G
c.347A>G
c.7327A>G (p.Thr2443Ala)
c.7297A>G (p.Thr2433Ala)
c.7234A>G (p.Thr2412Ala)
c.6232A>G (p.Thr2078Ala)
c.680A>G
c.7433A>G (n.7433A>G)
c.440A>G
c.7288A>G (p.Thr2430Ala)
c.7264A>G (p.Thr2422Ala)
c.7324A>G (p.Thr2442Ala)
 ClinVar dbSNP gnomAD v4
17g.31349227A>TCA399016879NF1c.7279A>T (p.Thr2427Ser)
c.1861A>T (p.Thr621Ser)
c.1453A>T (p.Thr485Ser)
n.3942A>T
c.347A>T
c.7327A>T (p.Thr2443Ser)
c.7297A>T (p.Thr2433Ser)
c.7234A>T (p.Thr2412Ser)
c.6232A>T (p.Thr2078Ser)
c.680A>T
c.7433A>T (n.7433A>T)
c.440A>T
c.7288A>T (p.Thr2430Ser)
c.7264A>T (p.Thr2422Ser)
c.7324A>T (p.Thr2442Ser)
 dbSNP
17g.31349230_31349231delCA2580612867NF1c.7282_7283del (p.Gln2428GlufsTer13)
c.1864_1865del (p.Gln622GlufsTer13)
c.1456_1457del (p.Gln486GlufsTer13)
n.3945_3946del
c.350_351del
c.7330_7331del (p.Gln2444GlufsTer13)
c.7300_7301del (p.Gln2434GlufsTer13)
c.7237_7238del (p.Gln2413GlufsTer13)
c.6235_6236del (p.Gln2079GlufsTer13)
c.683_684del
c.7436_7437del (n.7436_7437del)
c.443_444del
c.7291_7292del (p.Gln2431GlufsTer13)
c.7267_7268del (p.Gln2423GlufsTer13)
c.7327_7328del (p.Gln2443GlufsTer13)
 ClinVar dbSNP
17g.31349228C>ACA399016882NF1c.7280C>A (p.Thr2427Lys)
c.1862C>A (p.Thr621Lys)
c.1454C>A (p.Thr485Lys)
n.3943C>A
c.348C>A
c.7328C>A (p.Thr2443Lys)
c.7298C>A (p.Thr2433Lys)
c.7235C>A (p.Thr2412Lys)
c.6233C>A (p.Thr2078Lys)
c.681C>A
c.7434C>A (n.7434C>A)
c.441C>A
c.7289C>A (p.Thr2430Lys)
c.7265C>A (p.Thr2422Lys)
c.7325C>A (p.Thr2442Lys)
17g.31349228C=CA2255607777NF1c.7280C= (p.Thr2427=)
c.1862C= (p.Thr621=)
c.1454C= (p.Thr485=)
n.3943C=
c.348C=
c.7328C= (p.Thr2443=)
c.7298C= (p.Thr2433=)
c.7235C= (p.Thr2412=)
c.6233C= (p.Thr2078=)
c.681C=
c.7434C= (n.7434C=)
c.441C=
c.7289C= (p.Thr2430=)
c.7265C= (p.Thr2422=)
c.7325C= (p.Thr2442=)
17g.31349228C>GCA399016883NF1c.7280C>G (p.Thr2427Arg)
c.1862C>G (p.Thr621Arg)
c.1454C>G (p.Thr485Arg)
n.3943C>G
c.348C>G
c.7328C>G (p.Thr2443Arg)
c.7298C>G (p.Thr2433Arg)
c.7235C>G (p.Thr2412Arg)
c.6233C>G (p.Thr2078Arg)
c.681C>G
c.7434C>G (n.7434C>G)
c.441C>G
c.7289C>G (p.Thr2430Arg)
c.7265C>G (p.Thr2422Arg)
c.7325C>G (p.Thr2442Arg)
17g.31349228C>TCA196260NF1c.7280C>T (p.Thr2427Ile)
c.1862C>T (p.Thr621Ile)
c.1454C>T (p.Thr485Ile)
n.3943C>T
c.348C>T
c.7328C>T (p.Thr2443Ile)
c.7298C>T (p.Thr2433Ile)
c.7235C>T (p.Thr2412Ile)
c.6233C>T (p.Thr2078Ile)
c.681C>T
c.7434C>T (n.7434C>T)
c.441C>T
c.7289C>T (p.Thr2430Ile)
c.7265C>T (p.Thr2422Ile)
c.7325C>T (p.Thr2442Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31349229A=CA2255607778NF1c.7281A= (p.Thr2427=)
c.1863A= (p.Thr621=)
c.1455A= (p.Thr485=)
n.3944A=
c.349A=
c.7329A= (p.Thr2443=)
c.7299A= (p.Thr2433=)
c.7236A= (p.Thr2412=)
c.6234A= (p.Thr2078=)
c.682A=
c.7435A= (n.7435A=)
c.442A=
c.7290A= (p.Thr2430=)
c.7266A= (p.Thr2422=)
c.7326A= (p.Thr2442=)
17g.31349229A>CCA289400961NF1c.7281A>C (p.Thr2427=)
c.1863A>C (p.Thr621=)
c.1455A>C (p.Thr485=)
n.3944A>C
c.349A>C
c.7329A>C (p.Thr2443=)
c.7299A>C (p.Thr2433=)
c.7236A>C (p.Thr2412=)
c.6234A>C (p.Thr2078=)
c.682A>C
c.7435A>C (n.7435A>C)
c.442A>C
c.7290A>C (p.Thr2430=)
c.7266A>C (p.Thr2422=)
c.7326A>C (p.Thr2442=)
 ClinVar dbSNP
17g.31349229A>GCA499239128NF1c.7281A>G (p.Thr2427=)
c.1863A>G (p.Thr621=)
c.1455A>G (p.Thr485=)
n.3944A>G
c.349A>G
c.7329A>G (p.Thr2443=)
c.7299A>G (p.Thr2433=)
c.7236A>G (p.Thr2412=)
c.6234A>G (p.Thr2078=)
c.682A>G
c.7435A>G (n.7435A>G)
c.442A>G
c.7290A>G (p.Thr2430=)
c.7266A>G (p.Thr2422=)
c.7326A>G (p.Thr2442=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31349229A>TCA499239127NF1c.7281A>T (p.Thr2427=)
c.1863A>T (p.Thr621=)
c.1455A>T (p.Thr485=)
n.3944A>T
c.349A>T
c.7329A>T (p.Thr2443=)
c.7299A>T (p.Thr2433=)
c.7236A>T (p.Thr2412=)
c.6234A>T (p.Thr2078=)
c.682A>T
c.7435A>T (n.7435A>T)
c.442A>T
c.7290A>T (p.Thr2430=)
c.7266A>T (p.Thr2422=)
c.7326A>T (p.Thr2442=)
 dbSNP
17g.31349230C>ACA399016884NF1c.7282C>A (p.Gln2428Lys)
c.1864C>A (p.Gln622Lys)
c.1456C>A (p.Gln486Lys)
n.3945C>A
c.350C>A
c.7330C>A (p.Gln2444Lys)
c.7300C>A (p.Gln2434Lys)
c.7237C>A (p.Gln2413Lys)
c.6235C>A (p.Gln2079Lys)
c.683C>A
c.7436C>A (n.7436C>A)
c.443C>A
c.7291C>A (p.Gln2431Lys)
c.7267C>A (p.Gln2423Lys)
c.7327C>A (p.Gln2443Lys)
17g.31349230C>GCA399016885NF1c.7282C>G (p.Gln2428Glu)
c.1864C>G (p.Gln622Glu)
c.1456C>G (p.Gln486Glu)
n.3945C>G
c.350C>G
c.7330C>G (p.Gln2444Glu)
c.7300C>G (p.Gln2434Glu)
c.7237C>G (p.Gln2413Glu)
c.6235C>G (p.Gln2079Glu)
c.683C>G
c.7436C>G (n.7436C>G)
c.443C>G
c.7291C>G (p.Gln2431Glu)
c.7267C>G (p.Gln2423Glu)
c.7327C>G (p.Gln2443Glu)
 dbSNP
17g.31349230C>TCA399016886NF1c.7282C>T (p.Gln2428Ter)
c.1864C>T (p.Gln622Ter)
c.1456C>T (p.Gln486Ter)
n.3945C>T
c.350C>T
c.7330C>T (p.Gln2444Ter)
c.7300C>T (p.Gln2434Ter)
c.7237C>T (p.Gln2413Ter)
c.6235C>T (p.Gln2079Ter)
c.683C>T
c.7436C>T (n.7436C>T)
c.443C>T
c.7291C>T (p.Gln2431Ter)
c.7267C>T (p.Gln2423Ter)
c.7327C>T (p.Gln2443Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31349230_31349232delinsCAGCA2255607779NF1c.7282_7284delinsCAG (p.Gln2428=)
c.1864_1866delinsCAG (p.Gln622=)
c.1456_1458delinsCAG (p.Gln486=)
n.3945_3947delinsCAG
c.350_352delinsCAG
c.7330_7332delinsCAG (p.Gln2444=)
c.7300_7302delinsCAG (p.Gln2434=)
c.7237_7239delinsCAG (p.Gln2413=)
c.6235_6237delinsCAG (p.Gln2079=)
c.683_685delinsCAG
c.7436_7438delinsCAG (n.7436_7438delinsCAG)
c.443_445delinsCAG
c.7291_7293delinsCAG (p.Gln2431=)
c.7267_7269delinsCAG (p.Gln2423=)
c.7327_7329delinsCAG (p.Gln2443=)
17g.31349230_31349246delCA645572265NF1c.7282_7298del (p.Gln2428SerfsTer8)
c.1864_1880del (p.Gln622SerfsTer8)
c.1456_1472del (p.Gln486SerfsTer8)
n.3945_3961del
c.350_366del
c.7330_7346del (p.Gln2444SerfsTer8)
c.7300_7316del (p.Gln2434SerfsTer8)
c.7237_7253del (p.Gln2413SerfsTer8)
c.6235_6251del (p.Gln2079SerfsTer8)
c.683_699del
c.7436_7452del (n.7436_7452del)
c.443_459del
c.7291_7307del (p.Gln2431SerfsTer8)
c.7267_7283del (p.Gln2423SerfsTer8)
c.7327_7343del (p.Gln2443SerfsTer8)
 COSMIC
17g.31349231A>CCA399016887NF1c.7283A>C (p.Gln2428Pro)
c.1865A>C (p.Gln622Pro)
c.1457A>C (p.Gln486Pro)
n.3946A>C
c.351A>C
c.7331A>C (p.Gln2444Pro)
c.7301A>C (p.Gln2434Pro)
c.7238A>C (p.Gln2413Pro)
c.6236A>C (p.Gln2079Pro)
c.684A>C
c.7437A>C (n.7437A>C)
c.444A>C
c.7292A>C (p.Gln2431Pro)
c.7268A>C (p.Gln2423Pro)
c.7328A>C (p.Gln2443Pro)
 ClinVar
17g.31349231A>GCA399016888NF1c.7283A>G (p.Gln2428Arg)
c.1865A>G (p.Gln622Arg)
c.1457A>G (p.Gln486Arg)
n.3946A>G
c.351A>G
c.7331A>G (p.Gln2444Arg)
c.7301A>G (p.Gln2434Arg)
c.7238A>G (p.Gln2413Arg)
c.6236A>G (p.Gln2079Arg)
c.684A>G
c.7437A>G (n.7437A>G)
c.444A>G
c.7292A>G (p.Gln2431Arg)
c.7268A>G (p.Gln2423Arg)
c.7328A>G (p.Gln2443Arg)
 dbSNP
17g.31349231A>TCA399016889NF1c.7283A>T (p.Gln2428Leu)
c.1865A>T (p.Gln622Leu)
c.1457A>T (p.Gln486Leu)
n.3946A>T
c.351A>T
c.7331A>T (p.Gln2444Leu)
c.7301A>T (p.Gln2434Leu)
c.7238A>T (p.Gln2413Leu)
c.6236A>T (p.Gln2079Leu)
c.684A>T
c.7437A>T (n.7437A>T)
c.444A>T
c.7292A>T (p.Gln2431Leu)
c.7268A>T (p.Gln2423Leu)
c.7328A>T (p.Gln2443Leu)
 dbSNP
17g.31349233_31349234delCA915949836NF1c.7285_7286del (p.Ser2429ArgfsTer12)
c.1867_1868del (p.Ser623ArgfsTer12)
c.1459_1460del (p.Ser487ArgfsTer12)
n.3948_3949del
c.353_354del
c.7333_7334del (p.Ser2445ArgfsTer12)
c.7303_7304del (p.Ser2435ArgfsTer12)
c.7240_7241del (p.Ser2414ArgfsTer12)
c.6238_6239del (p.Ser2080ArgfsTer12)
c.686_687del
c.7439_7440del (n.7439_7440del)
c.446_447del
c.7294_7295del (p.Ser2432ArgfsTer12)
c.7270_7271del (p.Ser2424ArgfsTer12)
c.7330_7331del (p.Ser2444ArgfsTer12)
 ClinVar dbSNP gnomAD v4
17g.31349232G>ACA8487536NF1c.7284G>A (p.Gln2428=)
c.1866G>A (p.Gln622=)
c.1458G>A (p.Gln486=)
n.3947G>A
c.352G>A
c.7332G>A (p.Gln2444=)
c.7302G>A (p.Gln2434=)
c.7239G>A (p.Gln2413=)
c.6237G>A (p.Gln2079=)
c.685G>A
c.7438G>A (n.7438G>A)
c.445G>A
c.7293G>A (p.Gln2431=)
c.7269G>A (p.Gln2423=)
c.7329G>A (p.Gln2443=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31349232G>CCA399016890NF1c.7284G>C (p.Gln2428His)
c.1866G>C (p.Gln622His)
c.1458G>C (p.Gln486His)
n.3947G>C
c.352G>C
c.7332G>C (p.Gln2444His)
c.7302G>C (p.Gln2434His)
c.7239G>C (p.Gln2413His)
c.6237G>C (p.Gln2079His)
c.685G>C
c.7438G>C (n.7438G>C)
c.445G>C
c.7293G>C (p.Gln2431His)
c.7269G>C (p.Gln2423His)
c.7329G>C (p.Gln2443His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31349232G=CA2255607780NF1c.7284G= (p.Gln2428=)
c.1866G= (p.Gln622=)
c.1458G= (p.Gln486=)
n.3947G=
c.352G=
c.7332G= (p.Gln2444=)
c.7302G= (p.Gln2434=)
c.7239G= (p.Gln2413=)
c.6237G= (p.Gln2079=)
c.685G=
c.7438G= (n.7438G=)
c.445G=
c.7293G= (p.Gln2431=)
c.7269G= (p.Gln2423=)
c.7329G= (p.Gln2443=)
17g.31349232G>TCA399016891NF1c.7284G>T (p.Gln2428His)
c.1866G>T (p.Gln622His)
c.1458G>T (p.Gln486His)
n.3947G>T
c.352G>T
c.7332G>T (p.Gln2444His)
c.7302G>T (p.Gln2434His)
c.7239G>T (p.Gln2413His)
c.6237G>T (p.Gln2079His)
c.685G>T
c.7438G>T (n.7438G>T)
c.445G>T
c.7293G>T (p.Gln2431His)
c.7269G>T (p.Gln2423His)
c.7329G>T (p.Gln2443His)
17g.31349233A=CA2255607781NF1c.7285A= (p.Ser2429=)
c.1867A= (p.Ser623=)
c.1459A= (p.Ser487=)
n.3948A=
c.353A=
c.7333A= (p.Ser2445=)
c.7303A= (p.Ser2435=)
c.7240A= (p.Ser2414=)
c.6238A= (p.Ser2080=)
c.686A=
c.7439A= (n.7439A=)
c.446A=
c.7294A= (p.Ser2432=)
c.7270A= (p.Ser2424=)
c.7330A= (p.Ser2444=)
17g.31349233A>CCA399016894NF1c.7285A>C (p.Ser2429Arg)
c.1867A>C (p.Ser623Arg)
c.1459A>C (p.Ser487Arg)
n.3948A>C
c.353A>C
c.7333A>C (p.Ser2445Arg)
c.7303A>C (p.Ser2435Arg)
c.7240A>C (p.Ser2414Arg)
c.6238A>C (p.Ser2080Arg)
c.686A>C
c.7439A>C (n.7439A>C)
c.446A>C
c.7294A>C (p.Ser2432Arg)
c.7270A>C (p.Ser2424Arg)
c.7330A>C (p.Ser2444Arg)
17g.31349233A>GCA399016893NF1c.7285A>G (p.Ser2429Gly)
c.1867A>G (p.Ser623Gly)
c.1459A>G (p.Ser487Gly)
n.3948A>G
c.353A>G
c.7333A>G (p.Ser2445Gly)
c.7303A>G (p.Ser2435Gly)
c.7240A>G (p.Ser2414Gly)
c.6238A>G (p.Ser2080Gly)
c.686A>G
c.7439A>G (n.7439A>G)
c.446A>G
c.7294A>G (p.Ser2432Gly)
c.7270A>G (p.Ser2424Gly)
c.7330A>G (p.Ser2444Gly)
 ClinVar dbSNP gnomAD v4
17g.31349233A>TCA399016892NF1c.7285A>T (p.Ser2429Cys)
c.1867A>T (p.Ser623Cys)
c.1459A>T (p.Ser487Cys)
n.3948A>T
c.353A>T
c.7333A>T (p.Ser2445Cys)
c.7303A>T (p.Ser2435Cys)
c.7240A>T (p.Ser2414Cys)
c.6238A>T (p.Ser2080Cys)
c.686A>T
c.7439A>T (n.7439A>T)
c.446A>T
c.7294A>T (p.Ser2432Cys)
c.7270A>T (p.Ser2424Cys)
c.7330A>T (p.Ser2444Cys)
 ClinVar dbSNP
17g.31349234G>ACA399016895NF1c.7286G>A (p.Ser2429Asn)
c.1868G>A (p.Ser623Asn)
c.1460G>A (p.Ser487Asn)
n.3949G>A
c.354G>A
c.7334G>A (p.Ser2445Asn)
c.7304G>A (p.Ser2435Asn)
c.7241G>A (p.Ser2414Asn)
c.6239G>A (p.Ser2080Asn)
c.687G>A
c.7440G>A (n.7440G>A)
c.447G>A
c.7295G>A (p.Ser2432Asn)
c.7271G>A (p.Ser2424Asn)
c.7331G>A (p.Ser2444Asn)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31349234G>CCA399016896NF1c.7286G>C (p.Ser2429Thr)
c.1868G>C (p.Ser623Thr)
c.1460G>C (p.Ser487Thr)
n.3949G>C
c.354G>C
c.7334G>C (p.Ser2445Thr)
c.7304G>C (p.Ser2435Thr)
c.7241G>C (p.Ser2414Thr)
c.6239G>C (p.Ser2080Thr)
c.687G>C
c.7440G>C (n.7440G>C)
c.447G>C
c.7295G>C (p.Ser2432Thr)
c.7271G>C (p.Ser2424Thr)
c.7331G>C (p.Ser2444Thr)
 dbSNP
17g.31349234G>TCA399016897NF1c.7286G>T (p.Ser2429Ile)
c.1868G>T (p.Ser623Ile)
c.1460G>T (p.Ser487Ile)
n.3949G>T
c.354G>T
c.7334G>T (p.Ser2445Ile)
c.7304G>T (p.Ser2435Ile)
c.7241G>T (p.Ser2414Ile)
c.6239G>T (p.Ser2080Ile)
c.687G>T
c.7440G>T (n.7440G>T)
c.447G>T
c.7295G>T (p.Ser2432Ile)
c.7271G>T (p.Ser2424Ile)
c.7331G>T (p.Ser2444Ile)
 dbSNP
17g.31349235C>ACA399016898NF1c.7287C>A (p.Ser2429Arg)
c.1869C>A (p.Ser623Arg)
c.1461C>A (p.Ser487Arg)
n.3950C>A
c.355C>A
c.7335C>A (p.Ser2445Arg)
c.7305C>A (p.Ser2435Arg)
c.7242C>A (p.Ser2414Arg)
c.6240C>A (p.Ser2080Arg)
c.688C>A
c.7441C>A (n.7441C>A)
c.448C>A
c.7296C>A (p.Ser2432Arg)
c.7272C>A (p.Ser2424Arg)
c.7332C>A (p.Ser2444Arg)
 dbSNP
17g.31349235C=CA2255607782NF1c.7287C= (p.Ser2429=)
c.1869C= (p.Ser623=)
c.1461C= (p.Ser487=)
n.3950C=
c.355C=
c.7335C= (p.Ser2445=)
c.7305C= (p.Ser2435=)
c.7242C= (p.Ser2414=)
c.6240C= (p.Ser2080=)
c.688C=
c.7441C= (n.7441C=)
c.448C=
c.7296C= (p.Ser2432=)
c.7272C= (p.Ser2424=)
c.7332C= (p.Ser2444=)
17g.31349235C>GCA399016899NF1c.7287C>G (p.Ser2429Arg)
c.1869C>G (p.Ser623Arg)
c.1461C>G (p.Ser487Arg)
n.3950C>G
c.355C>G
c.7335C>G (p.Ser2445Arg)
c.7305C>G (p.Ser2435Arg)
c.7242C>G (p.Ser2414Arg)
c.6240C>G (p.Ser2080Arg)
c.688C>G
c.7441C>G (n.7441C>G)
c.448C>G
c.7296C>G (p.Ser2432Arg)
c.7272C>G (p.Ser2424Arg)
c.7332C>G (p.Ser2444Arg)
 dbSNP
17g.31349235C>TCA8487537NF1c.7287C>T (p.Ser2429=)
c.1869C>T (p.Ser623=)
c.1461C>T (p.Ser487=)
n.3950C>T
c.355C>T
c.7335C>T (p.Ser2445=)
c.7305C>T (p.Ser2435=)
c.7242C>T (p.Ser2414=)
c.6240C>T (p.Ser2080=)
c.688C>T
c.7441C>T (n.7441C>T)
c.448C>T
c.7296C>T (p.Ser2432=)
c.7272C>T (p.Ser2424=)
c.7332C>T (p.Ser2444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31349236G>ACA10580403NF1c.7288G>A (p.Val2430Met)
c.1870G>A (p.Val624Met)
c.1462G>A (p.Val488Met)
n.3951G>A
c.356G>A
c.7336G>A (p.Val2446Met)
c.7306G>A (p.Val2436Met)
c.7243G>A (p.Val2415Met)
c.6241G>A (p.Val2081Met)
c.689G>A
c.7442G>A (n.7442G>A)
c.449G>A
c.7297G>A (p.Val2433Met)
c.7273G>A (p.Val2425Met)
c.7333G>A (p.Val2445Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31349236G>CCA399016900NF1c.7288G>C (p.Val2430Leu)
c.1870G>C (p.Val624Leu)
c.1462G>C (p.Val488Leu)
n.3951G>C
c.356G>C
c.7336G>C (p.Val2446Leu)
c.7306G>C (p.Val2436Leu)
c.7243G>C (p.Val2415Leu)
c.6241G>C (p.Val2081Leu)
c.689G>C
c.7442G>C (n.7442G>C)
c.449G>C
c.7297G>C (p.Val2433Leu)
c.7273G>C (p.Val2425Leu)
c.7333G>C (p.Val2445Leu)
 ClinVar dbSNP
17g.31349236G=CA2255607783NF1c.7288G= (p.Val2430=)
c.1870G= (p.Val624=)
c.1462G= (p.Val488=)
n.3951G=
c.356G=
c.7336G= (p.Val2446=)
c.7306G= (p.Val2436=)
c.7243G= (p.Val2415=)
c.6241G= (p.Val2081=)
c.689G=
c.7442G= (n.7442G=)
c.449G=
c.7297G= (p.Val2433=)
c.7273G= (p.Val2425=)
c.7333G= (p.Val2445=)
17g.31349236G>TCA399016901NF1c.7288G>T (p.Val2430Leu)
c.1870G>T (p.Val624Leu)
c.1462G>T (p.Val488Leu)
n.3951G>T
c.356G>T
c.7336G>T (p.Val2446Leu)
c.7306G>T (p.Val2436Leu)
c.7243G>T (p.Val2415Leu)
c.6241G>T (p.Val2081Leu)
c.689G>T
c.7442G>T (n.7442G>T)
c.449G>T
c.7297G>T (p.Val2433Leu)
c.7273G>T (p.Val2425Leu)
c.7333G>T (p.Val2445Leu)
17g.31349237T>ACA399016902NF1c.7289T>A (p.Val2430Glu)
c.1871T>A (p.Val624Glu)
c.1463T>A (p.Val488Glu)
n.3952T>A
c.357T>A
c.7337T>A (p.Val2446Glu)
c.7307T>A (p.Val2436Glu)
c.7244T>A (p.Val2415Glu)
c.6242T>A (p.Val2081Glu)
c.690T>A
c.7443T>A (n.7443T>A)
c.450T>A
c.7298T>A (p.Val2433Glu)
c.7274T>A (p.Val2425Glu)
c.7334T>A (p.Val2445Glu)
17g.31349237T>CCA399016903NF1c.7289T>C (p.Val2430Ala)
c.1871T>C (p.Val624Ala)
c.1463T>C (p.Val488Ala)
n.3952T>C
c.357T>C
c.7337T>C (p.Val2446Ala)
c.7307T>C (p.Val2436Ala)
c.7244T>C (p.Val2415Ala)
c.6242T>C (p.Val2081Ala)
c.690T>C
c.7443T>C (n.7443T>C)
c.450T>C
c.7298T>C (p.Val2433Ala)
c.7274T>C (p.Val2425Ala)
c.7334T>C (p.Val2445Ala)
17g.31349237T>GCA399016904NF1c.7289T>G (p.Val2430Gly)
c.1871T>G (p.Val624Gly)
c.1463T>G (p.Val488Gly)
n.3952T>G
c.357T>G
c.7337T>G (p.Val2446Gly)
c.7307T>G (p.Val2436Gly)
c.7244T>G (p.Val2415Gly)
c.6242T>G (p.Val2081Gly)
c.690T>G
c.7443T>G (n.7443T>G)
c.450T>G
c.7298T>G (p.Val2433Gly)
c.7274T>G (p.Val2425Gly)
c.7334T>G (p.Val2445Gly)
17g.31349238G>ACA499239129NF1c.7290G>A (p.Val2430=)
c.1872G>A (p.Val624=)
c.1464G>A (p.Val488=)
n.3953G>A
c.358G>A
c.7338G>A (p.Val2446=)
c.7308G>A (p.Val2436=)
c.7245G>A (p.Val2415=)
c.6243G>A (p.Val2081=)
c.691G>A
c.7444G>A (n.7444G>A)
c.451G>A
c.7299G>A (p.Val2433=)
c.7275G>A (p.Val2425=)
c.7335G>A (p.Val2445=)
 dbSNP
17g.31349238G>CCA499239130NF1c.7290G>C (p.Val2430=)
c.1872G>C (p.Val624=)
c.1464G>C (p.Val488=)
n.3953G>C
c.358G>C
c.7338G>C (p.Val2446=)
c.7308G>C (p.Val2436=)
c.7245G>C (p.Val2415=)
c.6243G>C (p.Val2081=)
c.691G>C
c.7444G>C (n.7444G>C)
c.451G>C
c.7299G>C (p.Val2433=)
c.7275G>C (p.Val2425=)
c.7335G>C (p.Val2445=)
 dbSNP
17g.31349238G>TCA499239131NF1c.7290G>T (p.Val2430=)
c.1872G>T (p.Val624=)
c.1464G>T (p.Val488=)
n.3953G>T
c.358G>T
c.7338G>T (p.Val2446=)
c.7308G>T (p.Val2436=)
c.7245G>T (p.Val2415=)
c.6243G>T (p.Val2081=)
c.691G>T
c.7444G>T (n.7444G>T)
c.451G>T
c.7299G>T (p.Val2433=)
c.7275G>T (p.Val2425=)
c.7335G>T (p.Val2445=)
17g.31349239dupCA2695225469NF1c.7291dup (p.Ala2431GlyfsTer11)
c.1873dup (p.Ala625GlyfsTer11)
c.1465dup (p.Ala489GlyfsTer11)
n.3954dup
c.359dup
c.7339dup (p.Ala2447GlyfsTer11)
c.7309dup (p.Ala2437GlyfsTer11)
c.7246dup (p.Ala2416GlyfsTer11)
c.6244dup (p.Ala2082GlyfsTer11)
c.692dup
c.7445dup (n.7445dup)
c.452dup
c.7300dup (p.Ala2434GlyfsTer11)
c.7276dup (p.Ala2426GlyfsTer11)
c.7336dup (p.Ala2446GlyfsTer11)
17g.31349239G>ACA399016906NF1c.7291G>A (p.Ala2431Thr)
c.1873G>A (p.Ala625Thr)
c.1465G>A (p.Ala489Thr)
n.3954G>A
c.359G>A
c.7339G>A (p.Ala2447Thr)
c.7309G>A (p.Ala2437Thr)
c.7246G>A (p.Ala2416Thr)
c.6244G>A (p.Ala2082Thr)
c.692G>A
c.7445G>A (n.7445G>A)
c.452G>A
c.7300G>A (p.Ala2434Thr)
c.7276G>A (p.Ala2426Thr)
c.7336G>A (p.Ala2446Thr)
 ClinVar dbSNP gnomAD v4
17g.31349239G>CCA399016905NF1c.7291G>C (p.Ala2431Pro)
c.1873G>C (p.Ala625Pro)
c.1465G>C (p.Ala489Pro)
n.3954G>C
c.359G>C
c.7339G>C (p.Ala2447Pro)
c.7309G>C (p.Ala2437Pro)
c.7246G>C (p.Ala2416Pro)
c.6244G>C (p.Ala2082Pro)
c.692G>C
c.7445G>C (n.7445G>C)
c.452G>C
c.7300G>C (p.Ala2434Pro)
c.7276G>C (p.Ala2426Pro)
c.7336G>C (p.Ala2446Pro)
 dbSNP
17g.31349239G=CA2255607784NF1c.7291G= (p.Ala2431=)
c.1873G= (p.Ala625=)
c.1465G= (p.Ala489=)
n.3954G=
c.359G=
c.7339G= (p.Ala2447=)
c.7309G= (p.Ala2437=)
c.7246G= (p.Ala2416=)
c.6244G= (p.Ala2082=)
c.692G=
c.7445G= (n.7445G=)
c.452G=
c.7300G= (p.Ala2434=)
c.7276G= (p.Ala2426=)
c.7336G= (p.Ala2446=)
17g.31349239G>TCA8487538NF1c.7291G>T (p.Ala2431Ser)
c.1873G>T (p.Ala625Ser)
c.1465G>T (p.Ala489Ser)
n.3954G>T
c.359G>T
c.7339G>T (p.Ala2447Ser)
c.7309G>T (p.Ala2437Ser)
c.7246G>T (p.Ala2416Ser)
c.6244G>T (p.Ala2082Ser)
c.692G>T
c.7445G>T (n.7445G>T)
c.452G>T
c.7300G>T (p.Ala2434Ser)
c.7276G>T (p.Ala2426Ser)
c.7336G>T (p.Ala2446Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31349241_31349249delCA2739290951NF1c.7293_7301del (p.Tyr2432_Ala2434del)
c.1875_1883del (p.Tyr626_Ala628del)
c.1467_1475del (p.Tyr490_Ala492del)
n.3956_3964del
c.361_369del
c.7341_7349del (p.Tyr2448_Ala2450del)
c.7311_7319del (p.Tyr2438_Ala2440del)
c.7248_7256del (p.Tyr2417_Ala2419del)
c.6246_6254del (p.Tyr2083_Ala2085del)
c.694_702del
c.7447_7455del (n.7447_7455del)
c.454_462del
c.7302_7310del (p.Tyr2435_Ala2437del)
c.7278_7286del (p.Tyr2427_Ala2429del)
c.7338_7346del (p.Tyr2447_Ala2449del)
17g.31349240C>ACA399016907NF1c.7292C>A (p.Ala2431Asp)
c.1874C>A (p.Ala625Asp)
c.1466C>A (p.Ala489Asp)
n.3955C>A
c.360C>A
c.7340C>A (p.Ala2447Asp)
c.7310C>A (p.Ala2437Asp)
c.7247C>A (p.Ala2416Asp)
c.6245C>A (p.Ala2082Asp)
c.693C>A
c.7446C>A (n.7446C>A)
c.453C>A
c.7301C>A (p.Ala2434Asp)
c.7277C>A (p.Ala2426Asp)
c.7337C>A (p.Ala2446Asp)
 ClinVar dbSNP
17g.31349240C=CA2255607785NF1c.7292C= (p.Ala2431=)
c.1874C= (p.Ala625=)
c.1466C= (p.Ala489=)
n.3955C=
c.360C=
c.7340C= (p.Ala2447=)
c.7310C= (p.Ala2437=)
c.7247C= (p.Ala2416=)
c.6245C= (p.Ala2082=)
c.693C=
c.7446C= (n.7446C=)
c.453C=
c.7301C= (p.Ala2434=)
c.7277C= (p.Ala2426=)
c.7337C= (p.Ala2446=)
17g.31349240C>GCA399016909NF1c.7292C>G (p.Ala2431Gly)
c.1874C>G (p.Ala625Gly)
c.1466C>G (p.Ala489Gly)
n.3955C>G
c.360C>G
c.7340C>G (p.Ala2447Gly)
c.7310C>G (p.Ala2437Gly)
c.7247C>G (p.Ala2416Gly)
c.6245C>G (p.Ala2082Gly)
c.693C>G
c.7446C>G (n.7446C>G)
c.453C>G
c.7301C>G (p.Ala2434Gly)
c.7277C>G (p.Ala2426Gly)
c.7337C>G (p.Ala2446Gly)
 dbSNP
17g.31349240C>TCA399016908NF1c.7292C>T (p.Ala2431Val)
c.1874C>T (p.Ala625Val)
c.1466C>T (p.Ala489Val)
n.3955C>T
c.360C>T
c.7340C>T (p.Ala2447Val)
c.7310C>T (p.Ala2437Val)
c.7247C>T (p.Ala2416Val)
c.6245C>T (p.Ala2082Val)
c.693C>T
c.7446C>T (n.7446C>T)
c.453C>T
c.7301C>T (p.Ala2434Val)
c.7277C>T (p.Ala2426Val)
c.7337C>T (p.Ala2446Val)
 ClinVar dbSNP gnomAD v4
17g.31349241C>ACA499239132NF1c.7293C>A (p.Ala2431=)
c.1875C>A (p.Ala625=)
c.1467C>A (p.Ala489=)
n.3956C>A
c.361C>A
c.7341C>A (p.Ala2447=)
c.7311C>A (p.Ala2437=)
c.7248C>A (p.Ala2416=)
c.6246C>A (p.Ala2082=)
c.694C>A
c.7447C>A (n.7447C>A)
c.454C>A
c.7302C>A (p.Ala2434=)
c.7278C>A (p.Ala2426=)
c.7338C>A (p.Ala2446=)
 dbSNP gnomAD v4
17g.31349241C=CA2255607786NF1c.7293C= (p.Ala2431=)
c.1875C= (p.Ala625=)
c.1467C= (p.Ala489=)
n.3956C=
c.361C=
c.7341C= (p.Ala2447=)
c.7311C= (p.Ala2437=)
c.7248C= (p.Ala2416=)
c.6246C= (p.Ala2082=)
c.694C=
c.7447C= (n.7447C=)
c.454C=
c.7302C= (p.Ala2434=)
c.7278C= (p.Ala2426=)
c.7338C= (p.Ala2446=)
17g.31349241C>GCA499239133NF1c.7293C>G (p.Ala2431=)
c.1875C>G (p.Ala625=)
c.1467C>G (p.Ala489=)
n.3956C>G
c.361C>G
c.7341C>G (p.Ala2447=)
c.7311C>G (p.Ala2437=)
c.7248C>G (p.Ala2416=)
c.6246C>G (p.Ala2082=)
c.694C>G
c.7447C>G (n.7447C>G)
c.454C>G
c.7302C>G (p.Ala2434=)
c.7278C>G (p.Ala2426=)
c.7338C>G (p.Ala2446=)
 dbSNP
17g.31349241C>TCA10580404NF1c.7293C>T (p.Ala2431=)
c.1875C>T (p.Ala625=)
c.1467C>T (p.Ala489=)
n.3956C>T
c.361C>T
c.7341C>T (p.Ala2447=)
c.7311C>T (p.Ala2437=)
c.7248C>T (p.Ala2416=)
c.6246C>T (p.Ala2082=)
c.694C>T
c.7447C>T (n.7447C>T)
c.454C>T
c.7302C>T (p.Ala2434=)
c.7278C>T (p.Ala2426=)
c.7338C>T (p.Ala2446=)
 ClinVar dbSNP gnomAD v4
17g.31349241_31349245delinsCTACTCA2255607787NF1c.7293_7297delinsCTACT (p.Ala2431=)
c.1875_1879delinsCTACT (p.Ala625=)
c.1467_1471delinsCTACT (p.Ala489=)
n.3956_3960delinsCTACT
c.361_365delinsCTACT
c.7341_7345delinsCTACT (p.Ala2447=)
c.7311_7315delinsCTACT (p.Ala2437=)
c.7248_7252delinsCTACT (p.Ala2416=)
c.6246_6250delinsCTACT (p.Ala2082=)
c.694_698delinsCTACT
c.7447_7451delinsCTACT (n.7447_7451delinsCTACT)
c.454_458delinsCTACT
c.7302_7306delinsCTACT (p.Ala2434=)
c.7278_7282delinsCTACT (p.Ala2426=)
c.7338_7342delinsCTACT (p.Ala2446=)
17g.31349243_31349245delCA2637077610NF1c.7295_7297del (p.Tyr2432del)
c.1877_1879del (p.Tyr626del)
c.1469_1471del (p.Tyr490del)
n.3958_3960del
c.363_365del
c.7343_7345del (p.Tyr2448del)
c.7313_7315del (p.Tyr2438del)
c.7250_7252del (p.Tyr2417del)
c.6248_6250del (p.Tyr2083del)
c.696_698del
c.7449_7451del (n.7449_7451del)
c.456_458del
c.7304_7306del (p.Tyr2435del)
c.7280_7282del (p.Tyr2427del)
c.7340_7342del (p.Tyr2447del)
 gnomAD v4
17g.31349242T>ACA399016910NF1c.7294T>A (p.Tyr2432Asn)
c.1876T>A (p.Tyr626Asn)
c.1468T>A (p.Tyr490Asn)
n.3957T>A
c.362T>A
c.7342T>A (p.Tyr2448Asn)
c.7312T>A (p.Tyr2438Asn)
c.7249T>A (p.Tyr2417Asn)
c.6247T>A (p.Tyr2083Asn)
c.695T>A
c.7448T>A (n.7448T>A)
c.455T>A
c.7303T>A (p.Tyr2435Asn)
c.7279T>A (p.Tyr2427Asn)
c.7339T>A (p.Tyr2447Asn)
 dbSNP
17g.31349242T>CCA399016911NF1c.7294T>C (p.Tyr2432His)
c.1876T>C (p.Tyr626His)
c.1468T>C (p.Tyr490His)
n.3957T>C
c.362T>C
c.7342T>C (p.Tyr2448His)
c.7312T>C (p.Tyr2438His)
c.7249T>C (p.Tyr2417His)
c.6247T>C (p.Tyr2083His)
c.695T>C
c.7448T>C (n.7448T>C)
c.455T>C
c.7303T>C (p.Tyr2435His)
c.7279T>C (p.Tyr2427His)
c.7339T>C (p.Tyr2447His)
17g.31349242T>GCA399016912NF1c.7294T>G (p.Tyr2432Asp)
c.1876T>G (p.Tyr626Asp)
c.1468T>G (p.Tyr490Asp)
n.3957T>G
c.362T>G
c.7342T>G (p.Tyr2448Asp)
c.7312T>G (p.Tyr2438Asp)
c.7249T>G (p.Tyr2417Asp)
c.6247T>G (p.Tyr2083Asp)
c.695T>G
c.7448T>G (n.7448T>G)
c.455T>G
c.7303T>G (p.Tyr2435Asp)
c.7279T>G (p.Tyr2427Asp)
c.7339T>G (p.Tyr2447Asp)
17g.31349242_31349243dupCA2580093348NF1c.7294_7295dup (p.Leu2433ThrfsTer2)
c.1876_1877dup (p.Leu627ThrfsTer2)
c.1468_1469dup (p.Leu491ThrfsTer2)
n.3957_3958dup
c.362_363dup
c.7342_7343dup (p.Leu2449ThrfsTer2)
c.7312_7313dup (p.Leu2439ThrfsTer2)
c.7249_7250dup (p.Leu2418ThrfsTer2)
c.6247_6248dup (p.Leu2084ThrfsTer2)
c.695_696dup
c.7448_7449dup (n.7448_7449dup)
c.455_456dup
c.7303_7304dup (p.Leu2436ThrfsTer2)
c.7279_7280dup (p.Leu2428ThrfsTer2)
c.7339_7340dup (p.Leu2448ThrfsTer2)
 ClinVar
17g.31349244_31349247delCA1139665474NF1c.7296_7299del (p.Tyr2432Ter)
c.1878_1881del (p.Tyr626Ter)
c.1470_1473del (p.Tyr490Ter)
n.3959_3962del
c.364_367del
c.7344_7347del (p.Tyr2448Ter)
c.7314_7317del (p.Tyr2438Ter)
c.7251_7254del (p.Tyr2417Ter)
c.6249_6252del (p.Tyr2083Ter)
c.697_700del
c.7450_7453del (n.7450_7453del)
c.457_460del
c.7305_7308del (p.Tyr2435Ter)
c.7281_7284del (p.Tyr2427Ter)
c.7341_7344del (p.Tyr2447Ter)
 ClinVar dbSNP
17g.31349243A=CA2255607788NF1c.7295A= (p.Tyr2432=)
c.1877A= (p.Tyr626=)
c.1469A= (p.Tyr490=)
n.3958A=
c.363A=
c.7343A= (p.Tyr2448=)
c.7313A= (p.Tyr2438=)
c.7250A= (p.Tyr2417=)
c.6248A= (p.Tyr2083=)
c.696A=
c.7449A= (n.7449A=)
c.456A=
c.7304A= (p.Tyr2435=)
c.7280A= (p.Tyr2427=)
c.7340A= (p.Tyr2447=)
17g.31349243A>CCA399016913NF1c.7295A>C (p.Tyr2432Ser)
c.1877A>C (p.Tyr626Ser)
c.1469A>C (p.Tyr490Ser)
n.3958A>C
c.363A>C
c.7343A>C (p.Tyr2448Ser)
c.7313A>C (p.Tyr2438Ser)
c.7250A>C (p.Tyr2417Ser)
c.6248A>C (p.Tyr2083Ser)
c.696A>C
c.7449A>C (n.7449A>C)
c.456A>C
c.7304A>C (p.Tyr2435Ser)
c.7280A>C (p.Tyr2427Ser)
c.7340A>C (p.Tyr2447Ser)
 dbSNP gnomAD v4
17g.31349243A>GCA10580405NF1c.7295A>G (p.Tyr2432Cys)
c.1877A>G (p.Tyr626Cys)
c.1469A>G (p.Tyr490Cys)
n.3958A>G
c.363A>G
c.7343A>G (p.Tyr2448Cys)
c.7313A>G (p.Tyr2438Cys)
c.7250A>G (p.Tyr2417Cys)
c.6248A>G (p.Tyr2083Cys)
c.696A>G
c.7449A>G (n.7449A>G)
c.456A>G
c.7304A>G (p.Tyr2435Cys)
c.7280A>G (p.Tyr2427Cys)
c.7340A>G (p.Tyr2447Cys)
 ClinVar dbSNP
17g.31349243A>TCA399016914NF1c.7295A>T (p.Tyr2432Phe)
c.1877A>T (p.Tyr626Phe)
c.1469A>T (p.Tyr490Phe)
n.3958A>T
c.363A>T
c.7343A>T (p.Tyr2448Phe)
c.7313A>T (p.Tyr2438Phe)
c.7250A>T (p.Tyr2417Phe)
c.6248A>T (p.Tyr2083Phe)
c.696A>T
c.7449A>T (n.7449A>T)
c.456A>T
c.7304A>T (p.Tyr2435Phe)
c.7280A>T (p.Tyr2427Phe)
c.7340A>T (p.Tyr2447Phe)
 dbSNP gnomAD v4
17g.31349244delCA2697559580NF1c.7296del (p.Leu2433Ter)
c.1878del (p.Leu627Ter)
c.1470del (p.Leu491Ter)
n.3959del
c.364del
c.7344del (p.Leu2449Ter)
c.7314del (p.Leu2439Ter)
c.7251del (p.Leu2418Ter)
c.6249del (p.Leu2084Ter)
c.697del
c.7450del (n.7450del)
c.457del
c.7305del (p.Leu2436Ter)
c.7281del (p.Leu2428Ter)
c.7341del (p.Leu2448Ter)
 ClinVar
17g.31349244C>ACA399016915NF1c.7296C>A (p.Tyr2432Ter)
c.1878C>A (p.Tyr626Ter)
c.1470C>A (p.Tyr490Ter)
n.3959C>A
c.364C>A
c.7344C>A (p.Tyr2448Ter)
c.7314C>A (p.Tyr2438Ter)
c.7251C>A (p.Tyr2417Ter)
c.6249C>A (p.Tyr2083Ter)
c.697C>A
c.7450C>A (n.7450C>A)
c.457C>A
c.7305C>A (p.Tyr2435Ter)
c.7281C>A (p.Tyr2427Ter)
c.7341C>A (p.Tyr2447Ter)
17g.31349244C=CA2255607789NF1c.7296C= (p.Tyr2432=)
c.1878C= (p.Tyr626=)
c.1470C= (p.Tyr490=)
n.3959C=
c.364C=
c.7344C= (p.Tyr2448=)
c.7314C= (p.Tyr2438=)
c.7251C= (p.Tyr2417=)
c.6249C= (p.Tyr2083=)
c.697C=
c.7450C= (n.7450C=)
c.457C=
c.7305C= (p.Tyr2435=)
c.7281C= (p.Tyr2427=)
c.7341C= (p.Tyr2447=)
17g.31349244C>GCA16615290NF1c.7296C>G (p.Tyr2432Ter)
c.1878C>G (p.Tyr626Ter)
c.1470C>G (p.Tyr490Ter)
n.3959C>G
c.364C>G
c.7344C>G (p.Tyr2448Ter)
c.7314C>G (p.Tyr2438Ter)
c.7251C>G (p.Tyr2417Ter)
c.6249C>G (p.Tyr2083Ter)
c.697C>G
c.7450C>G (n.7450C>G)
c.457C>G
c.7305C>G (p.Tyr2435Ter)
c.7281C>G (p.Tyr2427Ter)
c.7341C>G (p.Tyr2447Ter)
 ClinVar dbSNP
17g.31349244C>TCA499239134NF1c.7296C>T (p.Tyr2432=)
c.1878C>T (p.Tyr626=)
c.1470C>T (p.Tyr490=)
n.3959C>T
c.364C>T
c.7344C>T (p.Tyr2448=)
c.7314C>T (p.Tyr2438=)
c.7251C>T (p.Tyr2417=)
c.6249C>T (p.Tyr2083=)
c.697C>T
c.7450C>T (n.7450C>T)
c.457C>T
c.7305C>T (p.Tyr2435=)
c.7281C>T (p.Tyr2427=)
c.7341C>T (p.Tyr2447=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31349245T>ACA399016916NF1c.7297T>A (p.Leu2433Ile)
c.1879T>A (p.Leu627Ile)
c.1471T>A (p.Leu491Ile)
n.3960T>A
c.365T>A
c.7345T>A (p.Leu2449Ile)
c.7315T>A (p.Leu2439Ile)
c.7252T>A (p.Leu2418Ile)
c.6250T>A (p.Leu2084Ile)
c.698T>A
c.7451T>A (n.7451T>A)
c.458T>A
c.7306T>A (p.Leu2436Ile)
c.7282T>A (p.Leu2428Ile)
c.7342T>A (p.Leu2448Ile)
 ClinVar dbSNP
17g.31349245T>CCA499239135NF1c.7297T>C (p.Leu2433=)
c.1879T>C (p.Leu627=)
c.1471T>C (p.Leu491=)
n.3960T>C
c.365T>C
c.7345T>C (p.Leu2449=)
c.7315T>C (p.Leu2439=)
c.7252T>C (p.Leu2418=)
c.6250T>C (p.Leu2084=)
c.698T>C
c.7451T>C (n.7451T>C)
c.458T>C
c.7306T>C (p.Leu2436=)
c.7282T>C (p.Leu2428=)
c.7342T>C (p.Leu2448=)
 ClinVar dbSNP gnomAD v4
17g.31349245T>GCA399016917NF1c.7297T>G (p.Leu2433Val)
c.1879T>G (p.Leu627Val)
c.1471T>G (p.Leu491Val)
n.3960T>G
c.365T>G
c.7345T>G (p.Leu2449Val)
c.7315T>G (p.Leu2439Val)
c.7252T>G (p.Leu2418Val)
c.6250T>G (p.Leu2084Val)
c.698T>G
c.7451T>G (n.7451T>G)
c.458T>G
c.7306T>G (p.Leu2436Val)
c.7282T>G (p.Leu2428Val)
c.7342T>G (p.Leu2448Val)
 ClinVar
17g.31349245T=CA2255607790NF1c.7297T= (p.Leu2433=)
c.1879T= (p.Leu627=)
c.1471T= (p.Leu491=)
n.3960T=
c.365T=
c.7345T= (p.Leu2449=)
c.7315T= (p.Leu2439=)
c.7252T= (p.Leu2418=)
c.6250T= (p.Leu2084=)
c.698T=
c.7451T= (n.7451T=)
c.458T=
c.7306T= (p.Leu2436=)
c.7282T= (p.Leu2428=)
c.7342T= (p.Leu2448=)
17g.31349246T>ACA399016920NF1c.7298T>A (p.Leu2433Ter)
c.1880T>A (p.Leu627Ter)
c.1472T>A (p.Leu491Ter)
n.3961T>A
c.366T>A
c.7346T>A (p.Leu2449Ter)
c.7316T>A (p.Leu2439Ter)
c.7253T>A (p.Leu2418Ter)
c.6251T>A (p.Leu2084Ter)
c.699T>A
c.7452T>A (n.7452T>A)
c.459T>A
c.7307T>A (p.Leu2436Ter)
c.7283T>A (p.Leu2428Ter)
c.7343T>A (p.Leu2448Ter)
 dbSNP
17g.31349246T>CCA399016918NF1c.7298T>C (p.Leu2433Ser)
c.1880T>C (p.Leu627Ser)
c.1472T>C (p.Leu491Ser)
n.3961T>C
c.366T>C
c.7346T>C (p.Leu2449Ser)
c.7316T>C (p.Leu2439Ser)
c.7253T>C (p.Leu2418Ser)
c.6251T>C (p.Leu2084Ser)
c.699T>C
c.7452T>C (n.7452T>C)
c.459T>C
c.7307T>C (p.Leu2436Ser)
c.7283T>C (p.Leu2428Ser)
c.7343T>C (p.Leu2448Ser)
 ClinVar dbSNP
17g.31349246T>GCA399016919NF1c.7298T>G (p.Leu2433Ter)
c.1880T>G (p.Leu627Ter)
c.1472T>G (p.Leu491Ter)
n.3961T>G
c.366T>G
c.7346T>G (p.Leu2449Ter)
c.7316T>G (p.Leu2439Ter)
c.7253T>G (p.Leu2418Ter)
c.6251T>G (p.Leu2084Ter)
c.699T>G
c.7452T>G (n.7452T>G)
c.459T>G
c.7307T>G (p.Leu2436Ter)
c.7283T>G (p.Leu2428Ter)
c.7343T>G (p.Leu2448Ter)
 ClinVar dbSNP
17g.31349246T=CA2255607792NF1c.7298T= (p.Leu2433=)
c.1880T= (p.Leu627=)
c.1472T= (p.Leu491=)
n.3961T=
c.366T=
c.7346T= (p.Leu2449=)
c.7316T= (p.Leu2439=)
c.7253T= (p.Leu2418=)
c.6251T= (p.Leu2084=)
c.699T=
c.7452T= (n.7452T=)
c.459T=
c.7307T= (p.Leu2436=)
c.7283T= (p.Leu2428=)
c.7343T= (p.Leu2448=)
17g.31349246_31349248delCA2695225470NF1c.7298_7300del (p.Leu2433_Ala2434delinsSer)
c.1880_1882del (p.Leu627_Ala628delinsSer)
c.1472_1474del (p.Leu491_Ala492delinsSer)
n.3961_3963del
c.366_368del
c.7346_7348del (p.Leu2449_Ala2450delinsSer)
c.7316_7318del (p.Leu2439_Ala2440delinsSer)
c.7253_7255del (p.Leu2418_Ala2419delinsSer)
c.6251_6253del (p.Leu2084_Ala2085delinsSer)
c.699_701del
c.7452_7454del (n.7452_7454del)
c.459_461del
c.7307_7309del (p.Leu2436_Ala2437delinsSer)
c.7283_7285del (p.Leu2428_Ala2429delinsSer)
c.7343_7345del (p.Leu2448_Ala2449delinsSer)
17g.31349246_31349249delinsTAGCCA2255607791NF1c.7298_7301delinsTAGC (p.Leu2433=)
c.1880_1883delinsTAGC (p.Leu627=)
c.1472_1475delinsTAGC (p.Leu491=)
n.3961_3964delinsTAGC
c.366_369delinsTAGC
c.7346_7349delinsTAGC (p.Leu2449=)
c.7316_7319delinsTAGC (p.Leu2439=)
c.7253_7256delinsTAGC (p.Leu2418=)
c.6251_6254delinsTAGC (p.Leu2084=)
c.699_702delinsTAGC
c.7452_7455delinsTAGC (n.7452_7455delinsTAGC)
c.459_462delinsTAGC
c.7307_7310delinsTAGC (p.Leu2436=)
c.7283_7286delinsTAGC (p.Leu2428=)
c.7343_7346delinsTAGC (p.Leu2448=)
17g.31349247A=CA2255607793NF1c.7299A= (p.Leu2433=)
c.1881A= (p.Leu627=)
c.1473A= (p.Leu491=)
n.3962A=
c.367A=
c.7347A= (p.Leu2449=)
c.7317A= (p.Leu2439=)
c.7254A= (p.Leu2418=)
c.6252A= (p.Leu2084=)
c.700A=
c.7453A= (n.7453A=)
c.460A=
c.7308A= (p.Leu2436=)
c.7284A= (p.Leu2428=)
c.7344A= (p.Leu2448=)
17g.31349247A>CCA399016921NF1c.7299A>C (p.Leu2433Phe)
c.1881A>C (p.Leu627Phe)
c.1473A>C (p.Leu491Phe)
n.3962A>C
c.367A>C
c.7347A>C (p.Leu2449Phe)
c.7317A>C (p.Leu2439Phe)
c.7254A>C (p.Leu2418Phe)
c.6252A>C (p.Leu2084Phe)
c.700A>C
c.7453A>C (n.7453A>C)
c.460A>C
c.7308A>C (p.Leu2436Phe)
c.7284A>C (p.Leu2428Phe)
c.7344A>C (p.Leu2448Phe)
 ClinVar dbSNP
17g.31349247A>GCA499239136NF1c.7299A>G (p.Leu2433=)
c.1881A>G (p.Leu627=)
c.1473A>G (p.Leu491=)
n.3962A>G
c.367A>G
c.7347A>G (p.Leu2449=)
c.7317A>G (p.Leu2439=)
c.7254A>G (p.Leu2418=)
c.6252A>G (p.Leu2084=)
c.700A>G
c.7453A>G (n.7453A>G)
c.460A>G
c.7308A>G (p.Leu2436=)
c.7284A>G (p.Leu2428=)
c.7344A>G (p.Leu2448=)
 dbSNP
17g.31349247A>TCA399016922NF1c.7299A>T (p.Leu2433Phe)
c.1881A>T (p.Leu627Phe)
c.1473A>T (p.Leu491Phe)
n.3962A>T
c.367A>T
c.7347A>T (p.Leu2449Phe)
c.7317A>T (p.Leu2439Phe)
c.7254A>T (p.Leu2418Phe)
c.6252A>T (p.Leu2084Phe)
c.700A>T
c.7453A>T (n.7453A>T)
c.460A>T
c.7308A>T (p.Leu2436Phe)
c.7284A>T (p.Leu2428Phe)
c.7344A>T (p.Leu2448Phe)
 dbSNP COSMIC COSMIC
17g.31349247dupCA2573153825NF1c.7299dup (p.Ala2434SerfsTer8)
c.1881dup (p.Ala628SerfsTer8)
c.1473dup (p.Ala492SerfsTer8)
n.3962dup
c.367dup
c.7347dup (p.Ala2450SerfsTer8)
c.7317dup (p.Ala2440SerfsTer8)
c.7254dup (p.Ala2419SerfsTer8)
c.6252dup (p.Ala2085SerfsTer8)
c.700dup
c.7453dup (n.7453dup)
c.460dup
c.7308dup (p.Ala2437SerfsTer8)
c.7284dup (p.Ala2429SerfsTer8)
c.7344dup (p.Ala2449SerfsTer8)
 ClinVar dbSNP
17g.31349247_31349249delinsAGCCA916080667NF1c.7299_7301delinsAGC (p.Leu2433=)
c.1881_1883delinsAGC (p.Leu627=)
c.1473_1475delinsAGC (p.Leu491=)
n.3962_3964delinsAGC
c.367_369delinsAGC
c.7347_7349delinsAGC (p.Leu2449=)
c.7317_7319delinsAGC (p.Leu2439=)
c.7254_7256delinsAGC (p.Leu2418=)
c.6252_6254delinsAGC (p.Leu2084=)
c.700_702delinsAGC
c.7453_7455delinsAGC (n.7453_7455delinsAGC)
c.460_462delinsAGC
c.7308_7310delinsAGC (p.Leu2436=)
c.7284_7286delinsAGC (p.Leu2428=)
c.7344_7346delinsAGC (p.Leu2448=)
 ClinVar
17g.31349249_31349251delCA645293902NF1c.7301_7303del (p.Ala2435del)
c.1883_1885del (p.Ala629del)
c.1475_1477del (p.Ala493del)
n.3964_3966del
c.369_371del
c.7349_7351del (p.Ala2451del)
c.7319_7321del (p.Ala2441del)
c.7256_7258del (p.Ala2420del)
c.6254_6256del (p.Ala2086del)
c.702_704del
c.7455_7457del (n.7455_7457del)
c.462_464del
c.7310_7312del (p.Ala2438del)
c.7286_7288del (p.Ala2430del)
c.7346_7348del (p.Ala2450del)
 ClinVar dbSNP
17g.31349248G>ACA399016923NF1c.7300G>A (p.Ala2434Thr)
c.1882G>A (p.Ala628Thr)
c.1474G>A (p.Ala492Thr)
n.3963G>A
c.368G>A
c.7348G>A (p.Ala2450Thr)
c.7318G>A (p.Ala2440Thr)
c.7255G>A (p.Ala2419Thr)
c.6253G>A (p.Ala2085Thr)
c.701G>A
c.7454G>A (n.7454G>A)
c.461G>A
c.7309G>A (p.Ala2437Thr)
c.7285G>A (p.Ala2429Thr)
c.7345G>A (p.Ala2449Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.31349248G>CCA399016924NF1c.7300G>C (p.Ala2434Pro)
c.1882G>C (p.Ala628Pro)
c.1474G>C (p.Ala492Pro)
n.3963G>C
c.368G>C
c.7348G>C (p.Ala2450Pro)
c.7318G>C (p.Ala2440Pro)
c.7255G>C (p.Ala2419Pro)
c.6253G>C (p.Ala2085Pro)
c.701G>C
c.7454G>C (n.7454G>C)
c.461G>C
c.7309G>C (p.Ala2437Pro)
c.7285G>C (p.Ala2429Pro)
c.7345G>C (p.Ala2449Pro)
 dbSNP
17g.31349248G=CA2255607794NF1c.7300G= (p.Ala2434=)
c.1882G= (p.Ala628=)
c.1474G= (p.Ala492=)
n.3963G=
c.368G=
c.7348G= (p.Ala2450=)
c.7318G= (p.Ala2440=)
c.7255G= (p.Ala2419=)
c.6253G= (p.Ala2085=)
c.701G=
c.7454G= (n.7454G=)
c.461G=
c.7309G= (p.Ala2437=)
c.7285G= (p.Ala2429=)
c.7345G= (p.Ala2449=)
17g.31349248G>TCA399016925NF1c.7300G>T (p.Ala2434Ser)
c.1882G>T (p.Ala628Ser)
c.1474G>T (p.Ala492Ser)
n.3963G>T
c.368G>T
c.7348G>T (p.Ala2450Ser)
c.7318G>T (p.Ala2440Ser)
c.7255G>T (p.Ala2419Ser)
c.6253G>T (p.Ala2085Ser)
c.701G>T
c.7454G>T (n.7454G>T)
c.461G>T
c.7309G>T (p.Ala2437Ser)
c.7285G>T (p.Ala2429Ser)
c.7345G>T (p.Ala2449Ser)
 dbSNP
17g.31349249C>ACA399016926NF1c.7301C>A (p.Ala2434Glu)
c.1883C>A (p.Ala628Glu)
c.1475C>A (p.Ala492Glu)
n.3964C>A
c.369C>A
c.7349C>A (p.Ala2450Glu)
c.7319C>A (p.Ala2440Glu)
c.7256C>A (p.Ala2419Glu)
c.6254C>A (p.Ala2085Glu)
c.702C>A
c.7455C>A (n.7455C>A)
c.462C>A
c.7310C>A (p.Ala2437Glu)
c.7286C>A (p.Ala2429Glu)
c.7346C>A (p.Ala2449Glu)
17g.31349249C>GCA399016927NF1c.7301C>G (p.Ala2434Gly)
c.1883C>G (p.Ala628Gly)
c.1475C>G (p.Ala492Gly)
n.3964C>G
c.369C>G
c.7349C>G (p.Ala2450Gly)
c.7319C>G (p.Ala2440Gly)
c.7256C>G (p.Ala2419Gly)
c.6254C>G (p.Ala2085Gly)
c.702C>G
c.7455C>G (n.7455C>G)
c.462C>G
c.7310C>G (p.Ala2437Gly)
c.7286C>G (p.Ala2429Gly)
c.7346C>G (p.Ala2449Gly)
17g.31349249C>TCA399016928NF1c.7301C>T (p.Ala2434Val)
c.1883C>T (p.Ala628Val)
c.1475C>T (p.Ala492Val)
n.3964C>T
c.369C>T
c.7349C>T (p.Ala2450Val)
c.7319C>T (p.Ala2440Val)
c.7256C>T (p.Ala2419Val)
c.6254C>T (p.Ala2085Val)
c.702C>T
c.7455C>T (n.7455C>T)
c.462C>T
c.7310C>T (p.Ala2437Val)
c.7286C>T (p.Ala2429Val)
c.7346C>T (p.Ala2449Val)
 ClinVar
17g.31349249_31349250delinsCACA2255607795NF1c.7301_7302delinsCA (p.Ala2434=)
c.1883_1884delinsCA (p.Ala628=)
c.1475_1476delinsCA (p.Ala492=)
n.3964_3965delinsCA
c.369_370delinsCA
c.7349_7350delinsCA (p.Ala2450=)
c.7319_7320delinsCA (p.Ala2440=)
c.7256_7257delinsCA (p.Ala2419=)
c.6254_6255delinsCA (p.Ala2085=)
c.702_703delinsCA
c.7455_7456delinsCA (n.7455_7456delinsCA)
c.462_463delinsCA
c.7310_7311delinsCA (p.Ala2437=)
c.7286_7287delinsCA (p.Ala2429=)
c.7346_7347delinsCA (p.Ala2449=)

Number of alleles fetched