Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31337447_31338975delCA1139665448NF1c.6489_6903+170del
c.1071_1485+170del
n.1385_2913del
c.663_1077+170del
n.3152_3566+170del
c.6537_6951+170del
c.6507_6921+170del
c.6444_6858+170del
c.5442_5856+170del
c.6643_7057+170del
c.6498_6912+170del
c.6474_6888+170del
c.6534_6948+170del
 ClinVar
17g.31338139_31338709delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTTCA2255602883NF1c.6801_6807delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.1383_1389delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
n.2077_2647delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.975_981delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
n.3464_3470delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6849_6855delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6819_6825delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6756_6762delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.5754_5760delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.202_208delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6955_6961delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.64+259_64+829delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
n.233_239delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6810_6816delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6786_6792delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
c.6846_6852delinsGGTACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTTTGCTAAGCAGGTACACTTAGTATTTTACCAGTTTTCAAAGCATTTAATTATATGGTAAGACTATAGCCTTGCATAAAATTATTTAATTTGTAATTACTATAATAATGTCTGACTCTTATAATGTAGAAATGTCAAAAAATAAGAAAACAAATGTACATTAAGCTAGCTACCAAGATCACCATAGCATGAGAAATCATTCTAGCATTTATTAAATAAGTAAATGTTCCTGAATTCATTCCGAGATTCAGTTTAGGAGTTAATGTTTTATTTCAATGAAAGTAAAATAAAAAATTCTGTTTTCCTAAAAGGCACTT
17g.31338141_31338710delCA915949962NF1c.6801+2_6808del
c.1383+2_1390del
n.2079_2648del
c.975+2_982del
n.3464+2_3471del
c.6849+2_6856del
c.6819+2_6826del
c.6756+2_6763del
c.5754+2_5761del
c.202+2_209del
c.6955+2_6962del
c.64+261_64+830del
n.233+2_240del
c.6810+2_6817del
c.6786+2_6793del
c.6846+2_6853del
 ClinVar dbSNP
17g.31338675_31338699delCA2580093152NF1c.6802-29_6802-5del (n.6802-29_6802-5del)
c.1384-29_1384-5del (n.1384-29_1384-5del)
n.2613_2637del
c.976-29_976-5del (n.976-29_976-5del)
n.3465-29_3465-5del
c.6850-29_6850-5del (n.6850-29_6850-5del)
c.6820-29_6820-5del (n.6820-29_6820-5del)
c.6757-29_6757-5del (n.6757-29_6757-5del)
c.5755-29_5755-5del (n.5755-29_5755-5del)
c.203-29_203-5del
c.6956-29_6956-5del (n.6956-29_6956-5del)
c.64+795_64+819del
n.234-29_234-5del
c.6811-29_6811-5del (n.6811-29_6811-5del)
c.6787-29_6787-5del (n.6787-29_6787-5del)
c.6847-29_6847-5del (n.6847-29_6847-5del)
 ClinVar
17g.31338688delCA8487438NF1c.6802-16del (n.6802-16del)
c.1384-16del (n.1384-16del)
n.2626del
c.976-16del (n.976-16del)
n.3465-16del
c.6850-16del (n.6850-16del)
c.6820-16del (n.6820-16del)
c.6757-16del (n.6757-16del)
c.5755-16del (n.5755-16del)
c.203-16del
c.6956-16del (n.6956-16del)
c.64+808del
n.234-16del
c.6811-16del (n.6811-16del)
c.6787-16del (n.6787-16del)
c.6847-16del (n.6847-16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338689C>ACA2573153871NF1c.6802-15C>A (n.6802-15C>A)
c.1384-15C>A (n.1384-15C>A)
n.2627C>A
c.976-15C>A (n.976-15C>A)
n.3465-15C>A
c.6850-15C>A (n.6850-15C>A)
c.6820-15C>A (n.6820-15C>A)
c.6757-15C>A (n.6757-15C>A)
c.5755-15C>A (n.5755-15C>A)
c.203-15C>A
c.6956-15C>A (n.6956-15C>A)
c.64+809C>A
n.234-15C>A
c.6811-15C>A (n.6811-15C>A)
c.6787-15C>A (n.6787-15C>A)
c.6847-15C>A (n.6847-15C>A)
 ClinVar dbSNP gnomAD v4
17g.31338689C=CA2255603098NF1c.6802-15C= (n.6802-15C=)
c.1384-15C= (n.1384-15C=)
n.2627C=
c.976-15C= (n.976-15C=)
n.3465-15C=
c.6850-15C= (n.6850-15C=)
c.6820-15C= (n.6820-15C=)
c.6757-15C= (n.6757-15C=)
c.5755-15C= (n.5755-15C=)
c.203-15C=
c.6956-15C= (n.6956-15C=)
c.64+809C=
n.234-15C=
c.6811-15C= (n.6811-15C=)
c.6787-15C= (n.6787-15C=)
c.6847-15C= (n.6847-15C=)
17g.31338689C>GCA2255603099NF1c.6802-15C>G (n.6802-15C>G)
c.1384-15C>G (n.1384-15C>G)
n.2627C>G
c.976-15C>G (n.976-15C>G)
n.3465-15C>G
c.6850-15C>G (n.6850-15C>G)
c.6820-15C>G (n.6820-15C>G)
c.6757-15C>G (n.6757-15C>G)
c.5755-15C>G (n.5755-15C>G)
c.203-15C>G
c.6956-15C>G (n.6956-15C>G)
c.64+809C>G
n.234-15C>G
c.6811-15C>G (n.6811-15C>G)
c.6787-15C>G (n.6787-15C>G)
c.6847-15C>G (n.6847-15C>G)
 dbSNP
17g.31338689C>TCA2573153872NF1c.6802-15C>T (n.6802-15C>T)
c.1384-15C>T (n.1384-15C>T)
n.2627C>T
c.976-15C>T (n.976-15C>T)
n.3465-15C>T
c.6850-15C>T (n.6850-15C>T)
c.6820-15C>T (n.6820-15C>T)
c.6757-15C>T (n.6757-15C>T)
c.5755-15C>T (n.5755-15C>T)
c.203-15C>T
c.6956-15C>T (n.6956-15C>T)
c.64+809C>T
n.234-15C>T
c.6811-15C>T (n.6811-15C>T)
c.6787-15C>T (n.6787-15C>T)
c.6847-15C>T (n.6847-15C>T)
 ClinVar dbSNP gnomAD v4
17g.31338690T>GCA2580093154NF1c.6802-14T>G (n.6802-14T>G)
c.1384-14T>G (n.1384-14T>G)
n.2628T>G
c.976-14T>G (n.976-14T>G)
n.3465-14T>G
c.6850-14T>G (n.6850-14T>G)
c.6820-14T>G (n.6820-14T>G)
c.6757-14T>G (n.6757-14T>G)
c.5755-14T>G (n.5755-14T>G)
c.203-14T>G
c.6956-14T>G (n.6956-14T>G)
c.64+810T>G
n.234-14T>G
c.6811-14T>G (n.6811-14T>G)
c.6787-14T>G (n.6787-14T>G)
c.6847-14T>G (n.6847-14T>G)
 ClinVar
17g.31338691G>ACA2580093155NF1c.6802-13G>A (n.6802-13G>A)
c.1384-13G>A (n.1384-13G>A)
n.2629G>A
c.976-13G>A (n.976-13G>A)
n.3465-13G>A
c.6850-13G>A (n.6850-13G>A)
c.6820-13G>A (n.6820-13G>A)
c.6757-13G>A (n.6757-13G>A)
c.5755-13G>A (n.5755-13G>A)
c.203-13G>A
c.6956-13G>A (n.6956-13G>A)
c.64+811G>A
n.234-13G>A
c.6811-13G>A (n.6811-13G>A)
c.6787-13G>A (n.6787-13G>A)
c.6847-13G>A (n.6847-13G>A)
 ClinVar gnomAD v4
17g.31338691G>CCA2573153873NF1c.6802-13G>C (n.6802-13G>C)
c.1384-13G>C (n.1384-13G>C)
n.2629G>C
c.976-13G>C (n.976-13G>C)
n.3465-13G>C
c.6850-13G>C (n.6850-13G>C)
c.6820-13G>C (n.6820-13G>C)
c.6757-13G>C (n.6757-13G>C)
c.5755-13G>C (n.5755-13G>C)
c.203-13G>C
c.6956-13G>C (n.6956-13G>C)
c.64+811G>C
n.234-13G>C
c.6811-13G>C (n.6811-13G>C)
c.6787-13G>C (n.6787-13G>C)
c.6847-13G>C (n.6847-13G>C)
 ClinVar dbSNP
17g.31338692T>GCA2573153874NF1c.6802-12T>G (n.6802-12T>G)
c.1384-12T>G (n.1384-12T>G)
n.2630T>G
c.976-12T>G (n.976-12T>G)
n.3465-12T>G
c.6850-12T>G (n.6850-12T>G)
c.6820-12T>G (n.6820-12T>G)
c.6757-12T>G (n.6757-12T>G)
c.5755-12T>G (n.5755-12T>G)
c.203-12T>G
c.6956-12T>G (n.6956-12T>G)
c.64+812T>G
n.234-12T>G
c.6811-12T>G (n.6811-12T>G)
c.6787-12T>G (n.6787-12T>G)
c.6847-12T>G (n.6847-12T>G)
 ClinVar dbSNP
17g.31338695delCA2637078503NF1c.6802-9del (n.6802-9del)
c.1384-9del (n.1384-9del)
n.2633del
c.976-9del (n.976-9del)
n.3465-9del
c.6850-9del (n.6850-9del)
c.6820-9del (n.6820-9del)
c.6757-9del (n.6757-9del)
c.5755-9del (n.5755-9del)
c.203-9del
c.6956-9del (n.6956-9del)
c.64+815del
n.234-9del
c.6811-9del (n.6811-9del)
c.6787-9del (n.6787-9del)
c.6847-9del (n.6847-9del)
 gnomAD v4
17g.31338694T>ACA2733271020NF1c.6802-10T>A (n.6802-10T>A)
c.1384-10T>A (n.1384-10T>A)
n.2632T>A
c.976-10T>A (n.976-10T>A)
n.3465-10T>A
c.6850-10T>A (n.6850-10T>A)
c.6820-10T>A (n.6820-10T>A)
c.6757-10T>A (n.6757-10T>A)
c.5755-10T>A (n.5755-10T>A)
c.203-10T>A
c.6956-10T>A (n.6956-10T>A)
c.64+814T>A
n.234-10T>A
c.6811-10T>A (n.6811-10T>A)
c.6787-10T>A (n.6787-10T>A)
c.6847-10T>A (n.6847-10T>A)
 dbSNP
17g.31338694T>CCA2739267435NF1c.6802-10T>C (n.6802-10T>C)
c.1384-10T>C (n.1384-10T>C)
n.2632T>C
c.976-10T>C (n.976-10T>C)
n.3465-10T>C
c.6850-10T>C (n.6850-10T>C)
c.6820-10T>C (n.6820-10T>C)
c.6757-10T>C (n.6757-10T>C)
c.5755-10T>C (n.5755-10T>C)
c.203-10T>C
c.6956-10T>C (n.6956-10T>C)
c.64+814T>C
n.234-10T>C
c.6811-10T>C (n.6811-10T>C)
c.6787-10T>C (n.6787-10T>C)
c.6847-10T>C (n.6847-10T>C)
 ClinVar
17g.31338694T>GCA915949964NF1c.6802-10T>G (n.6802-10T>G)
c.1384-10T>G (n.1384-10T>G)
n.2632T>G
c.976-10T>G (n.976-10T>G)
n.3465-10T>G
c.6850-10T>G (n.6850-10T>G)
c.6820-10T>G (n.6820-10T>G)
c.6757-10T>G (n.6757-10T>G)
c.5755-10T>G (n.5755-10T>G)
c.203-10T>G
c.6956-10T>G (n.6956-10T>G)
c.64+814T>G
n.234-10T>G
c.6811-10T>G (n.6811-10T>G)
c.6787-10T>G (n.6787-10T>G)
c.6847-10T>G (n.6847-10T>G)
 ClinVar dbSNP
17g.31338694T=CA2255603100NF1c.6802-10T= (n.6802-10T=)
c.1384-10T= (n.1384-10T=)
n.2632T=
c.976-10T= (n.976-10T=)
n.3465-10T=
c.6850-10T= (n.6850-10T=)
c.6820-10T= (n.6820-10T=)
c.6757-10T= (n.6757-10T=)
c.5755-10T= (n.5755-10T=)
c.203-10T=
c.6956-10T= (n.6956-10T=)
c.64+814T=
n.234-10T=
c.6811-10T= (n.6811-10T=)
c.6787-10T= (n.6787-10T=)
c.6847-10T= (n.6847-10T=)
17g.31338695T>CCA2809195007NF1c.6802-9T>C (n.6802-9T>C)
c.1384-9T>C (n.1384-9T>C)
n.2633T>C
c.976-9T>C (n.976-9T>C)
n.3465-9T>C
c.6850-9T>C (n.6850-9T>C)
c.6820-9T>C (n.6820-9T>C)
c.6757-9T>C (n.6757-9T>C)
c.5755-9T>C (n.5755-9T>C)
c.203-9T>C
c.6956-9T>C (n.6956-9T>C)
c.64+815T>C
n.234-9T>C
c.6811-9T>C (n.6811-9T>C)
c.6787-9T>C (n.6787-9T>C)
c.6847-9T>C (n.6847-9T>C)
17g.31338695T>GCA915949965NF1c.6802-9T>G (n.6802-9T>G)
c.1384-9T>G (n.1384-9T>G)
n.2633T>G
c.976-9T>G (n.976-9T>G)
n.3465-9T>G
c.6850-9T>G (n.6850-9T>G)
c.6820-9T>G (n.6820-9T>G)
c.6757-9T>G (n.6757-9T>G)
c.5755-9T>G (n.5755-9T>G)
c.203-9T>G
c.6956-9T>G (n.6956-9T>G)
c.64+815T>G
n.234-9T>G
c.6811-9T>G (n.6811-9T>G)
c.6787-9T>G (n.6787-9T>G)
c.6847-9T>G (n.6847-9T>G)
 ClinVar dbSNP
17g.31338695T=CA2255603101NF1c.6802-9T= (n.6802-9T=)
c.1384-9T= (n.1384-9T=)
n.2633T=
c.976-9T= (n.976-9T=)
n.3465-9T=
c.6850-9T= (n.6850-9T=)
c.6820-9T= (n.6820-9T=)
c.6757-9T= (n.6757-9T=)
c.5755-9T= (n.5755-9T=)
c.203-9T=
c.6956-9T= (n.6956-9T=)
c.64+815T=
n.234-9T=
c.6811-9T= (n.6811-9T=)
c.6787-9T= (n.6787-9T=)
c.6847-9T= (n.6847-9T=)
17g.31338696C>ACA2637078509NF1c.6802-8C>A (n.6802-8C>A)
c.1384-8C>A (n.1384-8C>A)
n.2634C>A
c.976-8C>A (n.976-8C>A)
n.3465-8C>A
c.6850-8C>A (n.6850-8C>A)
c.6820-8C>A (n.6820-8C>A)
c.6757-8C>A (n.6757-8C>A)
c.5755-8C>A (n.5755-8C>A)
c.203-8C>A
c.6956-8C>A (n.6956-8C>A)
c.64+816C>A
n.234-8C>A
c.6811-8C>A (n.6811-8C>A)
c.6787-8C>A (n.6787-8C>A)
c.6847-8C>A (n.6847-8C>A)
 dbSNP gnomAD v4
17g.31338696C=CA2255603102NF1c.6802-8C= (n.6802-8C=)
c.1384-8C= (n.1384-8C=)
n.2634C=
c.976-8C= (n.976-8C=)
n.3465-8C=
c.6850-8C= (n.6850-8C=)
c.6820-8C= (n.6820-8C=)
c.6757-8C= (n.6757-8C=)
c.5755-8C= (n.5755-8C=)
c.203-8C=
c.6956-8C= (n.6956-8C=)
c.64+816C=
n.234-8C=
c.6811-8C= (n.6811-8C=)
c.6787-8C= (n.6787-8C=)
c.6847-8C= (n.6847-8C=)
17g.31338696C>GCA2573153875NF1c.6802-8C>G (n.6802-8C>G)
c.1384-8C>G (n.1384-8C>G)
n.2634C>G
c.976-8C>G (n.976-8C>G)
n.3465-8C>G
c.6850-8C>G (n.6850-8C>G)
c.6820-8C>G (n.6820-8C>G)
c.6757-8C>G (n.6757-8C>G)
c.5755-8C>G (n.5755-8C>G)
c.203-8C>G
c.6956-8C>G (n.6956-8C>G)
c.64+816C>G
n.234-8C>G
c.6811-8C>G (n.6811-8C>G)
c.6787-8C>G (n.6787-8C>G)
c.6847-8C>G (n.6847-8C>G)
 ClinVar dbSNP
17g.31338696C>TCA16615310NF1c.6802-8C>T (n.6802-8C>T)
c.1384-8C>T (n.1384-8C>T)
n.2634C>T
c.976-8C>T (n.976-8C>T)
n.3465-8C>T
c.6850-8C>T (n.6850-8C>T)
c.6820-8C>T (n.6820-8C>T)
c.6757-8C>T (n.6757-8C>T)
c.5755-8C>T (n.5755-8C>T)
c.203-8C>T
c.6956-8C>T (n.6956-8C>T)
c.64+816C>T
n.234-8C>T
c.6811-8C>T (n.6811-8C>T)
c.6787-8C>T (n.6787-8C>T)
c.6847-8C>T (n.6847-8C>T)
 ClinVar dbSNP
17g.31338697C>ACA891844407NF1c.6802-7C>A (n.6802-7C>A)
c.1384-7C>A (n.1384-7C>A)
n.2635C>A
c.976-7C>A (n.976-7C>A)
n.3465-7C>A
c.6850-7C>A (n.6850-7C>A)
c.6820-7C>A (n.6820-7C>A)
c.6757-7C>A (n.6757-7C>A)
c.5755-7C>A (n.5755-7C>A)
c.203-7C>A
c.6956-7C>A (n.6956-7C>A)
c.64+817C>A
n.234-7C>A
c.6811-7C>A (n.6811-7C>A)
c.6787-7C>A (n.6787-7C>A)
c.6847-7C>A (n.6847-7C>A)
 ClinVar dbSNP gnomAD v4
17g.31338697C=CA2255603103NF1c.6802-7C= (n.6802-7C=)
c.1384-7C= (n.1384-7C=)
n.2635C=
c.976-7C= (n.976-7C=)
n.3465-7C=
c.6850-7C= (n.6850-7C=)
c.6820-7C= (n.6820-7C=)
c.6757-7C= (n.6757-7C=)
c.5755-7C= (n.5755-7C=)
c.203-7C=
c.6956-7C= (n.6956-7C=)
c.64+817C=
n.234-7C=
c.6811-7C= (n.6811-7C=)
c.6787-7C= (n.6787-7C=)
c.6847-7C= (n.6847-7C=)
17g.31338697C>GCA2697559617NF1c.6802-7C>G (n.6802-7C>G)
c.1384-7C>G (n.1384-7C>G)
n.2635C>G
c.976-7C>G (n.976-7C>G)
n.3465-7C>G
c.6850-7C>G (n.6850-7C>G)
c.6820-7C>G (n.6820-7C>G)
c.6757-7C>G (n.6757-7C>G)
c.5755-7C>G (n.5755-7C>G)
c.203-7C>G
c.6956-7C>G (n.6956-7C>G)
c.64+817C>G
n.234-7C>G
c.6811-7C>G (n.6811-7C>G)
c.6787-7C>G (n.6787-7C>G)
c.6847-7C>G (n.6847-7C>G)
 ClinVar
17g.31338697C>TCA658798764NF1c.6802-7C>T (n.6802-7C>T)
c.1384-7C>T (n.1384-7C>T)
n.2635C>T
c.976-7C>T (n.976-7C>T)
n.3465-7C>T
c.6850-7C>T (n.6850-7C>T)
c.6820-7C>T (n.6820-7C>T)
c.6757-7C>T (n.6757-7C>T)
c.5755-7C>T (n.5755-7C>T)
c.203-7C>T
c.6956-7C>T (n.6956-7C>T)
c.64+817C>T
n.234-7C>T
c.6811-7C>T (n.6811-7C>T)
c.6787-7C>T (n.6787-7C>T)
c.6847-7C>T (n.6847-7C>T)
 ClinVar dbSNP gnomAD v4
17g.31338698T>ACA915949966NF1c.6802-6T>A (n.6802-6T>A)
c.1384-6T>A (n.1384-6T>A)
n.2636T>A
c.976-6T>A (n.976-6T>A)
n.3465-6T>A
c.6850-6T>A (n.6850-6T>A)
c.6820-6T>A (n.6820-6T>A)
c.6757-6T>A (n.6757-6T>A)
c.5755-6T>A (n.5755-6T>A)
c.203-6T>A
c.6956-6T>A (n.6956-6T>A)
c.64+818T>A
n.234-6T>A
c.6811-6T>A (n.6811-6T>A)
c.6787-6T>A (n.6787-6T>A)
c.6847-6T>A (n.6847-6T>A)
 ClinVar dbSNP
17g.31338698T>CCA2573054397NF1c.6802-6T>C (n.6802-6T>C)
c.1384-6T>C (n.1384-6T>C)
n.2636T>C
c.976-6T>C (n.976-6T>C)
n.3465-6T>C
c.6850-6T>C (n.6850-6T>C)
c.6820-6T>C (n.6820-6T>C)
c.6757-6T>C (n.6757-6T>C)
c.5755-6T>C (n.5755-6T>C)
c.203-6T>C
c.6956-6T>C (n.6956-6T>C)
c.64+818T>C
n.234-6T>C
c.6811-6T>C (n.6811-6T>C)
c.6787-6T>C (n.6787-6T>C)
c.6847-6T>C (n.6847-6T>C)
 ClinVar dbSNP gnomAD v4
17g.31338698T=CA2255603104NF1c.6802-6T= (n.6802-6T=)
c.1384-6T= (n.1384-6T=)
n.2636T=
c.976-6T= (n.976-6T=)
n.3465-6T=
c.6850-6T= (n.6850-6T=)
c.6820-6T= (n.6820-6T=)
c.6757-6T= (n.6757-6T=)
c.5755-6T= (n.5755-6T=)
c.203-6T=
c.6956-6T= (n.6956-6T=)
c.64+818T=
n.234-6T=
c.6811-6T= (n.6811-6T=)
c.6787-6T= (n.6787-6T=)
c.6847-6T= (n.6847-6T=)
17g.31338699A=CA2255603105NF1c.6802-5A= (n.6802-5A=)
c.1384-5A= (n.1384-5A=)
n.2637A=
c.976-5A= (n.976-5A=)
n.3465-5A=
c.6850-5A= (n.6850-5A=)
c.6820-5A= (n.6820-5A=)
c.6757-5A= (n.6757-5A=)
c.5755-5A= (n.5755-5A=)
c.203-5A=
c.6956-5A= (n.6956-5A=)
c.64+819A=
n.234-5A=
c.6811-5A= (n.6811-5A=)
c.6787-5A= (n.6787-5A=)
c.6847-5A= (n.6847-5A=)
17g.31338699A>GCA658658590NF1c.6802-5A>G (n.6802-5A>G)
c.1384-5A>G (n.1384-5A>G)
n.2637A>G
c.976-5A>G (n.976-5A>G)
n.3465-5A>G
c.6850-5A>G (n.6850-5A>G)
c.6820-5A>G (n.6820-5A>G)
c.6757-5A>G (n.6757-5A>G)
c.5755-5A>G (n.5755-5A>G)
c.203-5A>G
c.6956-5A>G (n.6956-5A>G)
c.64+819A>G
n.234-5A>G
c.6811-5A>G (n.6811-5A>G)
c.6787-5A>G (n.6787-5A>G)
c.6847-5A>G (n.6847-5A>G)
 ClinVar dbSNP
17g.31338699A>TCA2733261582NF1c.6802-5A>T (n.6802-5A>T)
c.1384-5A>T (n.1384-5A>T)
n.2637A>T
c.976-5A>T (n.976-5A>T)
n.3465-5A>T
c.6850-5A>T (n.6850-5A>T)
c.6820-5A>T (n.6820-5A>T)
c.6757-5A>T (n.6757-5A>T)
c.5755-5A>T (n.5755-5A>T)
c.203-5A>T
c.6956-5A>T (n.6956-5A>T)
c.64+819A>T
n.234-5A>T
c.6811-5A>T (n.6811-5A>T)
c.6787-5A>T (n.6787-5A>T)
c.6847-5A>T (n.6847-5A>T)
 dbSNP
17g.31338702delCA2637078527NF1c.6802-2del (n.6802-2del)
c.1384-2del (n.1384-2del)
n.2640del
c.976-2del (n.976-2del)
n.3465-2del
c.6850-2del (n.6850-2del)
c.6820-2del (n.6820-2del)
c.6757-2del (n.6757-2del)
c.5755-2del (n.5755-2del)
c.203-2del
c.6956-2del (n.6956-2del)
c.64+822del
n.234-2del
c.6811-2del (n.6811-2del)
c.6787-2del (n.6787-2del)
c.6847-2del (n.6847-2del)
 gnomAD v4
17g.31338701A>GCA2580093156NF1c.6802-3A>G (n.6802-3A>G)
c.1384-3A>G (n.1384-3A>G)
n.2639A>G
c.976-3A>G (n.976-3A>G)
n.3465-3A>G
c.6850-3A>G (n.6850-3A>G)
c.6820-3A>G (n.6820-3A>G)
c.6757-3A>G (n.6757-3A>G)
c.5755-3A>G (n.5755-3A>G)
c.203-3A>G
c.6956-3A>G (n.6956-3A>G)
c.64+821A>G
n.234-3A>G
c.6811-3A>G (n.6811-3A>G)
c.6787-3A>G (n.6787-3A>G)
c.6847-3A>G (n.6847-3A>G)
 ClinVar
17g.31338702A>CCA399014234NF1c.6802-2A>C (n.6802-2A>C)
c.1384-2A>C (n.1384-2A>C)
n.2640A>C
c.976-2A>C (n.976-2A>C)
n.3465-2A>C
c.6850-2A>C (n.6850-2A>C)
c.6820-2A>C (n.6820-2A>C)
c.6757-2A>C (n.6757-2A>C)
c.5755-2A>C (n.5755-2A>C)
c.203-2A>C
c.6956-2A>C (n.6956-2A>C)
c.64+822A>C
n.234-2A>C
c.6811-2A>C (n.6811-2A>C)
c.6787-2A>C (n.6787-2A>C)
c.6847-2A>C (n.6847-2A>C)
 ClinVar dbSNP
17g.31338702A>GCA399014233NF1c.6802-2A>G (n.6802-2A>G)
c.1384-2A>G (n.1384-2A>G)
n.2640A>G
c.976-2A>G (n.976-2A>G)
n.3465-2A>G
c.6850-2A>G (n.6850-2A>G)
c.6820-2A>G (n.6820-2A>G)
c.6757-2A>G (n.6757-2A>G)
c.5755-2A>G (n.5755-2A>G)
c.203-2A>G
c.6956-2A>G (n.6956-2A>G)
c.64+822A>G
n.234-2A>G
c.6811-2A>G (n.6811-2A>G)
c.6787-2A>G (n.6787-2A>G)
c.6847-2A>G (n.6847-2A>G)
 dbSNP
17g.31338702A>TCA399014232NF1c.6802-2A>T (n.6802-2A>T)
c.1384-2A>T (n.1384-2A>T)
n.2640A>T
c.976-2A>T (n.976-2A>T)
n.3465-2A>T
c.6850-2A>T (n.6850-2A>T)
c.6820-2A>T (n.6820-2A>T)
c.6757-2A>T (n.6757-2A>T)
c.5755-2A>T (n.5755-2A>T)
c.203-2A>T
c.6956-2A>T (n.6956-2A>T)
c.64+822A>T
n.234-2A>T
c.6811-2A>T (n.6811-2A>T)
c.6787-2A>T (n.6787-2A>T)
c.6847-2A>T (n.6847-2A>T)
 dbSNP
17g.31338703G>ACA399014235NF1c.6802-1G>A (n.6802-1G>A)
c.1384-1G>A (n.1384-1G>A)
n.2641G>A
c.976-1G>A (n.976-1G>A)
n.3465-1G>A
c.6850-1G>A (n.6850-1G>A)
c.6820-1G>A (n.6820-1G>A)
c.6757-1G>A (n.6757-1G>A)
c.5755-1G>A (n.5755-1G>A)
c.203-1G>A
c.6956-1G>A (n.6956-1G>A)
c.64+823G>A
n.234-1G>A
c.6811-1G>A (n.6811-1G>A)
c.6787-1G>A (n.6787-1G>A)
c.6847-1G>A (n.6847-1G>A)
 ClinVar dbSNP gnomAD v4
17g.31338703G>CCA16615676NF1c.6802-1G>C (n.6802-1G>C)
c.1384-1G>C (n.1384-1G>C)
n.2641G>C
c.976-1G>C (n.976-1G>C)
n.3465-1G>C
c.6850-1G>C (n.6850-1G>C)
c.6820-1G>C (n.6820-1G>C)
c.6757-1G>C (n.6757-1G>C)
c.5755-1G>C (n.5755-1G>C)
c.203-1G>C
c.6956-1G>C (n.6956-1G>C)
c.64+823G>C
n.234-1G>C
c.6811-1G>C (n.6811-1G>C)
c.6787-1G>C (n.6787-1G>C)
c.6847-1G>C (n.6847-1G>C)
 ClinVar dbSNP COSMIC COSMIC
17g.31338703G=CA2255603106NF1c.6802-1G= (n.6802-1G=)
c.1384-1G= (n.1384-1G=)
n.2641G=
c.976-1G= (n.976-1G=)
n.3465-1G=
c.6850-1G= (n.6850-1G=)
c.6820-1G= (n.6820-1G=)
c.6757-1G= (n.6757-1G=)
c.5755-1G= (n.5755-1G=)
c.203-1G=
c.6956-1G= (n.6956-1G=)
c.64+823G=
n.234-1G=
c.6811-1G= (n.6811-1G=)
c.6787-1G= (n.6787-1G=)
c.6847-1G= (n.6847-1G=)
17g.31338703G>TCA399014236NF1c.6802-1G>T (n.6802-1G>T)
c.1384-1G>T (n.1384-1G>T)
n.2641G>T
c.976-1G>T (n.976-1G>T)
n.3465-1G>T
c.6850-1G>T (n.6850-1G>T)
c.6820-1G>T (n.6820-1G>T)
c.6757-1G>T (n.6757-1G>T)
c.5755-1G>T (n.5755-1G>T)
c.203-1G>T
c.6956-1G>T (n.6956-1G>T)
c.64+823G>T
n.234-1G>T
c.6811-1G>T (n.6811-1G>T)
c.6787-1G>T (n.6787-1G>T)
c.6847-1G>T (n.6847-1G>T)
17g.31338704delCA2695225173NF1c.6802del
c.1384del
n.2642del
c.976del
n.3465del
c.6850del
c.6820del
c.6757del
c.5755del
c.203del
c.6956del
c.64+824del
n.234del
c.6811del
c.6787del
c.6847del
17g.31338704G>ACA399014237NF1c.6802G>A (p.Ala2268Thr)
c.1384G>A (p.Ala462Thr)
n.2642G>A
c.976G>A (p.Ala326Thr)
n.3465G>A
c.6850G>A (p.Ala2284Thr)
c.6820G>A (p.Ala2274Thr)
c.6757G>A (p.Ala2253Thr)
c.5755G>A (p.Ala1919Thr)
c.203G>A
c.6956G>A (n.6956G>A)
c.64+824G>A
n.234G>A
c.6811G>A (p.Ala2271Thr)
c.6787G>A (p.Ala2263Thr)
c.6847G>A (p.Ala2283Thr)
 dbSNP gnomAD v4
17g.31338704G>CCA399014238NF1c.6802G>C (p.Ala2268Pro)
c.1384G>C (p.Ala462Pro)
n.2642G>C
c.976G>C (p.Ala326Pro)
n.3465G>C
c.6850G>C (p.Ala2284Pro)
c.6820G>C (p.Ala2274Pro)
c.6757G>C (p.Ala2253Pro)
c.5755G>C (p.Ala1919Pro)
c.203G>C
c.6956G>C (n.6956G>C)
c.64+824G>C
n.234G>C
c.6811G>C (p.Ala2271Pro)
c.6787G>C (p.Ala2263Pro)
c.6847G>C (p.Ala2283Pro)
 dbSNP
17g.31338704G=CA2255603107NF1c.6802G= (p.Ala2268=)
c.1384G= (p.Ala462=)
n.2642G=
c.976G= (p.Ala326=)
n.3465G=
c.6850G= (p.Ala2284=)
c.6820G= (p.Ala2274=)
c.6757G= (p.Ala2253=)
c.5755G= (p.Ala1919=)
c.203G=
c.6956G= (n.6956G=)
c.64+824G=
n.234G=
c.6811G= (p.Ala2271=)
c.6787G= (p.Ala2263=)
c.6847G= (p.Ala2283=)
17g.31338704G>TCA399014239NF1c.6802G>T (p.Ala2268Ser)
c.1384G>T (p.Ala462Ser)
n.2642G>T
c.976G>T (p.Ala326Ser)
n.3465G>T
c.6850G>T (p.Ala2284Ser)
c.6820G>T (p.Ala2274Ser)
c.6757G>T (p.Ala2253Ser)
c.5755G>T (p.Ala1919Ser)
c.203G>T
c.6956G>T (n.6956G>T)
c.64+824G>T
n.234G>T
c.6811G>T (p.Ala2271Ser)
c.6787G>T (p.Ala2263Ser)
c.6847G>T (p.Ala2283Ser)
 ClinVar dbSNP gnomAD v4
17g.31338705delCA2695225174NF1c.6803del (p.Ala2268AspfsTer6)
c.1385del (p.Ala462AspfsTer6)
n.2643del
c.977del (p.Ala326AspfsTer6)
n.3466del
c.6851del (p.Ala2284AspfsTer6)
c.6821del (p.Ala2274AspfsTer6)
c.6758del (p.Ala2253AspfsTer6)
c.5756del (p.Ala1919AspfsTer6)
c.204del
c.6957del (n.6957del)
c.64+825del
n.235del
c.6812del (p.Ala2271AspfsTer6)
c.6788del (p.Ala2263AspfsTer6)
c.6848del (p.Ala2283AspfsTer6)
17g.31338705C>ACA399014240NF1c.6803C>A (p.Ala2268Glu)
c.1385C>A (p.Ala462Glu)
n.2643C>A
c.977C>A (p.Ala326Glu)
n.3466C>A
c.6851C>A (p.Ala2284Glu)
c.6821C>A (p.Ala2274Glu)
c.6758C>A (p.Ala2253Glu)
c.5756C>A (p.Ala1919Glu)
c.204C>A
c.6957C>A (n.6957C>A)
c.64+825C>A
n.235C>A
c.6812C>A (p.Ala2271Glu)
c.6788C>A (p.Ala2263Glu)
c.6848C>A (p.Ala2283Glu)
 gnomAD v4
17g.31338705C=CA2255603108NF1c.6803C= (p.Ala2268=)
c.1385C= (p.Ala462=)
n.2643C=
c.977C= (p.Ala326=)
n.3466C=
c.6851C= (p.Ala2284=)
c.6821C= (p.Ala2274=)
c.6758C= (p.Ala2253=)
c.5756C= (p.Ala1919=)
c.204C=
c.6957C= (n.6957C=)
c.64+825C=
n.235C=
c.6812C= (p.Ala2271=)
c.6788C= (p.Ala2263=)
c.6848C= (p.Ala2283=)
17g.31338705C>GCA399014241NF1c.6803C>G (p.Ala2268Gly)
c.1385C>G (p.Ala462Gly)
n.2643C>G
c.977C>G (p.Ala326Gly)
n.3466C>G
c.6851C>G (p.Ala2284Gly)
c.6821C>G (p.Ala2274Gly)
c.6758C>G (p.Ala2253Gly)
c.5756C>G (p.Ala1919Gly)
c.204C>G
c.6957C>G (n.6957C>G)
c.64+825C>G
n.235C>G
c.6812C>G (p.Ala2271Gly)
c.6788C>G (p.Ala2263Gly)
c.6848C>G (p.Ala2283Gly)
 ClinVar dbSNP
17g.31338705C>TCA399014242NF1c.6803C>T (p.Ala2268Val)
c.1385C>T (p.Ala462Val)
n.2643C>T
c.977C>T (p.Ala326Val)
n.3466C>T
c.6851C>T (p.Ala2284Val)
c.6821C>T (p.Ala2274Val)
c.6758C>T (p.Ala2253Val)
c.5756C>T (p.Ala1919Val)
c.204C>T
c.6957C>T (n.6957C>T)
c.64+825C>T
n.235C>T
c.6812C>T (p.Ala2271Val)
c.6788C>T (p.Ala2263Val)
c.6848C>T (p.Ala2283Val)
17g.31338706A=CA2255603109NF1c.6804A= (p.Ala2268=)
c.1386A= (p.Ala462=)
n.2644A=
c.978A= (p.Ala326=)
n.3467A=
c.6852A= (p.Ala2284=)
c.6822A= (p.Ala2274=)
c.6759A= (p.Ala2253=)
c.5757A= (p.Ala1919=)
c.205A=
c.6958A= (n.6958A=)
c.64+826A=
n.236A=
c.6813A= (p.Ala2271=)
c.6789A= (p.Ala2263=)
c.6849A= (p.Ala2283=)
17g.31338706A>CCA499234319NF1c.6804A>C (p.Ala2268=)
c.1386A>C (p.Ala462=)
n.2644A>C
c.978A>C (p.Ala326=)
n.3467A>C
c.6852A>C (p.Ala2284=)
c.6822A>C (p.Ala2274=)
c.6759A>C (p.Ala2253=)
c.5757A>C (p.Ala1919=)
c.205A>C
c.6958A>C (n.6958A>C)
c.64+826A>C
n.236A>C
c.6813A>C (p.Ala2271=)
c.6789A>C (p.Ala2263=)
c.6849A>C (p.Ala2283=)
 ClinVar dbSNP
17g.31338706A>GCA499234320NF1c.6804A>G (p.Ala2268=)
c.1386A>G (p.Ala462=)
n.2644A>G
c.978A>G (p.Ala326=)
n.3467A>G
c.6852A>G (p.Ala2284=)
c.6822A>G (p.Ala2274=)
c.6759A>G (p.Ala2253=)
c.5757A>G (p.Ala1919=)
c.205A>G
c.6958A>G (n.6958A>G)
c.64+826A>G
n.236A>G
c.6813A>G (p.Ala2271=)
c.6789A>G (p.Ala2263=)
c.6849A>G (p.Ala2283=)
 ClinVar
17g.31338706A>TCA499234321NF1c.6804A>T (p.Ala2268=)
c.1386A>T (p.Ala462=)
n.2644A>T
c.978A>T (p.Ala326=)
n.3467A>T
c.6852A>T (p.Ala2284=)
c.6822A>T (p.Ala2274=)
c.6759A>T (p.Ala2253=)
c.5757A>T (p.Ala1919=)
c.205A>T
c.6958A>T (n.6958A>T)
c.64+826A>T
n.236A>T
c.6813A>T (p.Ala2271=)
c.6789A>T (p.Ala2263=)
c.6849A>T (p.Ala2283=)
 dbSNP
17g.31338706_31338711delinsACTTGACA2255603110NF1c.6804_6809delinsACTTGA (p.Ala2268=)
c.1386_1391delinsACTTGA (p.Ala462=)
n.2644_2649delinsACTTGA
c.978_983delinsACTTGA (p.Ala326=)
n.3467_3472delinsACTTGA
c.6852_6857delinsACTTGA (p.Ala2284=)
c.6822_6827delinsACTTGA (p.Ala2274=)
c.6759_6764delinsACTTGA (p.Ala2253=)
c.5757_5762delinsACTTGA (p.Ala1919=)
c.205_210delinsACTTGA
c.6958_6963delinsACTTGA (n.6958_6963delinsACTTGA)
c.64+826_64+831delinsACTTGA
n.236_241delinsACTTGA
c.6813_6818delinsACTTGA (p.Ala2271=)
c.6789_6794delinsACTTGA (p.Ala2263=)
c.6849_6854delinsACTTGA (p.Ala2283=)
17g.31338707delCA2695225176NF1c.6805del (p.Glu2270ArgfsTer4)
c.1387del (p.Glu464ArgfsTer4)
n.2645del
c.979del (p.Glu328ArgfsTer4)
n.3468del
c.6853del (p.Glu2286ArgfsTer4)
c.6823del (p.Glu2276ArgfsTer4)
c.6760del (p.Glu2255ArgfsTer4)
c.5758del (p.Glu1921ArgfsTer4)
c.206del
c.6959del (n.6959del)
c.64+827del
n.237del
c.6814del (p.Glu2273ArgfsTer4)
c.6790del (p.Glu2265ArgfsTer4)
c.6850del (p.Glu2285ArgfsTer4)
17g.31338707C>ACA399014243NF1c.6805C>A (p.Leu2269Ile)
c.1387C>A (p.Leu463Ile)
n.2645C>A
c.979C>A (p.Leu327Ile)
n.3468C>A
c.6853C>A (p.Leu2285Ile)
c.6823C>A (p.Leu2275Ile)
c.6760C>A (p.Leu2254Ile)
c.5758C>A (p.Leu1920Ile)
c.206C>A
c.6959C>A (n.6959C>A)
c.64+827C>A
n.237C>A
c.6814C>A (p.Leu2272Ile)
c.6790C>A (p.Leu2264Ile)
c.6850C>A (p.Leu2284Ile)
17g.31338707C>GCA399014244NF1c.6805C>G (p.Leu2269Val)
c.1387C>G (p.Leu463Val)
n.2645C>G
c.979C>G (p.Leu327Val)
n.3468C>G
c.6853C>G (p.Leu2285Val)
c.6823C>G (p.Leu2275Val)
c.6760C>G (p.Leu2254Val)
c.5758C>G (p.Leu1920Val)
c.206C>G
c.6959C>G (n.6959C>G)
c.64+827C>G
n.237C>G
c.6814C>G (p.Leu2272Val)
c.6790C>G (p.Leu2264Val)
c.6850C>G (p.Leu2284Val)
 dbSNP
17g.31338707C>TCA399014245NF1c.6805C>T (p.Leu2269Phe)
c.1387C>T (p.Leu463Phe)
n.2645C>T
c.979C>T (p.Leu327Phe)
n.3468C>T
c.6853C>T (p.Leu2285Phe)
c.6823C>T (p.Leu2275Phe)
c.6760C>T (p.Leu2254Phe)
c.5758C>T (p.Leu1920Phe)
c.206C>T
c.6959C>T (n.6959C>T)
c.64+827C>T
n.237C>T
c.6814C>T (p.Leu2272Phe)
c.6790C>T (p.Leu2264Phe)
c.6850C>T (p.Leu2284Phe)
17g.31338707_31338711delinsTGGCA1139665458NF1c.6805_6809delinsTGG (p.Leu2269TrpfsTer8)
c.1387_1391delinsTGG (p.Leu463TrpfsTer8)
n.2645_2649delinsTGG
c.979_983delinsTGG (p.Leu327TrpfsTer8)
n.3468_3472delinsTGG
c.6853_6857delinsTGG (p.Leu2285TrpfsTer8)
c.6823_6827delinsTGG (p.Leu2275TrpfsTer8)
c.6760_6764delinsTGG (p.Leu2254TrpfsTer8)
c.5758_5762delinsTGG (p.Leu1920TrpfsTer8)
c.206_210delinsTGG
c.6959_6963delinsTGG (n.6959_6963delinsTGG)
c.64+827_64+831delinsTGG
n.237_241delinsTGG
c.6814_6818delinsTGG (p.Leu2272TrpfsTer8)
c.6790_6794delinsTGG (p.Leu2264TrpfsTer8)
c.6850_6854delinsTGG (p.Leu2284TrpfsTer8)
 ClinVar dbSNP
17g.31338709_31338730delCA2695225175NF1c.6807_6828del (p.Glu2270ThrfsTer8)
c.1389_1410del (p.Glu464ThrfsTer8)
n.2647_2668del
c.981_1002del (p.Glu328ThrfsTer8)
n.3470_3491del
c.6855_6876del (p.Glu2286ThrfsTer8)
c.6825_6846del (p.Glu2276ThrfsTer8)
c.6762_6783del (p.Glu2255ThrfsTer8)
c.5760_5781del (p.Glu1921ThrfsTer8)
c.208_229del
c.6961_6982del (n.6961_6982del)
c.64+829_64+850del
n.239_260del
c.6816_6837del (p.Glu2273ThrfsTer8)
c.6792_6813del (p.Glu2265ThrfsTer8)
c.6852_6873del (p.Glu2285ThrfsTer8)
17g.31338708T>ACA399014247NF1c.6806T>A (p.Leu2269His)
c.1388T>A (p.Leu463His)
n.2646T>A
c.980T>A (p.Leu327His)
n.3469T>A
c.6854T>A (p.Leu2285His)
c.6824T>A (p.Leu2275His)
c.6761T>A (p.Leu2254His)
c.5759T>A (p.Leu1920His)
c.207T>A
c.6960T>A (n.6960T>A)
c.64+828T>A
n.238T>A
c.6815T>A (p.Leu2272His)
c.6791T>A (p.Leu2264His)
c.6851T>A (p.Leu2284His)
17g.31338708T>CCA399014248NF1c.6806T>C (p.Leu2269Pro)
c.1388T>C (p.Leu463Pro)
n.2646T>C
c.980T>C (p.Leu327Pro)
n.3469T>C
c.6854T>C (p.Leu2285Pro)
c.6824T>C (p.Leu2275Pro)
c.6761T>C (p.Leu2254Pro)
c.5759T>C (p.Leu1920Pro)
c.207T>C
c.6960T>C (n.6960T>C)
c.64+828T>C
n.238T>C
c.6815T>C (p.Leu2272Pro)
c.6791T>C (p.Leu2264Pro)
c.6851T>C (p.Leu2284Pro)
17g.31338708T>GCA399014246NF1c.6806T>G (p.Leu2269Arg)
c.1388T>G (p.Leu463Arg)
n.2646T>G
c.980T>G (p.Leu327Arg)
n.3469T>G
c.6854T>G (p.Leu2285Arg)
c.6824T>G (p.Leu2275Arg)
c.6761T>G (p.Leu2254Arg)
c.5759T>G (p.Leu1920Arg)
c.207T>G
c.6960T>G (n.6960T>G)
c.64+828T>G
n.238T>G
c.6815T>G (p.Leu2272Arg)
c.6791T>G (p.Leu2264Arg)
c.6851T>G (p.Leu2284Arg)
17g.31338709dupCA2580093158NF1c.6807dup (p.Glu2270Ter)
c.1389dup (p.Glu464Ter)
n.2647dup
c.981dup (p.Glu328Ter)
n.3470dup
c.6855dup (p.Glu2286Ter)
c.6825dup (p.Glu2276Ter)
c.6762dup (p.Glu2255Ter)
c.5760dup (p.Glu1921Ter)
c.208dup
c.6961dup (n.6961dup)
c.64+829dup
n.239dup
c.6816dup (p.Glu2273Ter)
c.6792dup (p.Glu2265Ter)
c.6852dup (p.Glu2285Ter)
 ClinVar
17g.31338711_31338717delCA2695225177NF1c.6809_6815del (p.Glu2270AlafsTer2)
c.1391_1397del (p.Glu464AlafsTer2)
n.2649_2655del
c.983_989del (p.Glu328AlafsTer2)
n.3472_3478del
c.6857_6863del (p.Glu2286AlafsTer2)
c.6827_6833del (p.Glu2276AlafsTer2)
c.6764_6770del (p.Glu2255AlafsTer2)
c.5762_5768del (p.Glu1921AlafsTer2)
c.210_216del
c.6963_6969del (n.6963_6969del)
c.64+831_64+837del
n.241_247del
c.6818_6824del (p.Glu2273AlafsTer2)
c.6794_6800del (p.Glu2265AlafsTer2)
c.6854_6860del (p.Glu2285AlafsTer2)
17g.31338709T>ACA499234322NF1c.6807T>A (p.Leu2269=)
c.1389T>A (p.Leu463=)
n.2647T>A
c.981T>A (p.Leu327=)
n.3470T>A
c.6855T>A (p.Leu2285=)
c.6825T>A (p.Leu2275=)
c.6762T>A (p.Leu2254=)
c.5760T>A (p.Leu1920=)
c.208T>A
c.6961T>A (n.6961T>A)
c.64+829T>A
n.239T>A
c.6816T>A (p.Leu2272=)
c.6792T>A (p.Leu2264=)
c.6852T>A (p.Leu2284=)
17g.31338709T>CCA499234324NF1c.6807T>C (p.Leu2269=)
c.1389T>C (p.Leu463=)
n.2647T>C
c.981T>C (p.Leu327=)
n.3470T>C
c.6855T>C (p.Leu2285=)
c.6825T>C (p.Leu2275=)
c.6762T>C (p.Leu2254=)
c.5760T>C (p.Leu1920=)
c.208T>C
c.6961T>C (n.6961T>C)
c.64+829T>C
n.239T>C
c.6816T>C (p.Leu2272=)
c.6792T>C (p.Leu2264=)
c.6852T>C (p.Leu2284=)
17g.31338709T>GCA499234323NF1c.6807T>G (p.Leu2269=)
c.1389T>G (p.Leu463=)
n.2647T>G
c.981T>G (p.Leu327=)
n.3470T>G
c.6855T>G (p.Leu2285=)
c.6825T>G (p.Leu2275=)
c.6762T>G (p.Leu2254=)
c.5760T>G (p.Leu1920=)
c.208T>G
c.6961T>G (n.6961T>G)
c.64+829T>G
n.239T>G
c.6816T>G (p.Leu2272=)
c.6792T>G (p.Leu2264=)
c.6852T>G (p.Leu2284=)
 gnomAD v4
17g.31338709_31338711delinsTGACA2255603111NF1c.6807_6809delinsTGA (p.Leu2269=)
c.1389_1391delinsTGA (p.Leu463=)
n.2647_2649delinsTGA
c.981_983delinsTGA (p.Leu327=)
n.3470_3472delinsTGA
c.6855_6857delinsTGA (p.Leu2285=)
c.6825_6827delinsTGA (p.Leu2275=)
c.6762_6764delinsTGA (p.Leu2254=)
c.5760_5762delinsTGA (p.Leu1920=)
c.208_210delinsTGA
c.6961_6963delinsTGA (n.6961_6963delinsTGA)
c.64+829_64+831delinsTGA
n.239_241delinsTGA
c.6816_6818delinsTGA (p.Leu2272=)
c.6792_6794delinsTGA (p.Leu2264=)
c.6852_6854delinsTGA (p.Leu2284=)
17g.31338710delCA2695225178NF1c.6808del (p.Glu2270ArgfsTer4)
c.1390del (p.Glu464ArgfsTer4)
n.2648del
c.982del (p.Glu328ArgfsTer4)
n.3471del
c.6856del (p.Glu2286ArgfsTer4)
c.6826del (p.Glu2276ArgfsTer4)
c.6763del (p.Glu2255ArgfsTer4)
c.5761del (p.Glu1921ArgfsTer4)
c.209del
c.6962del (n.6962del)
c.64+830del
n.240del
c.6817del (p.Glu2273ArgfsTer4)
c.6793del (p.Glu2265ArgfsTer4)
c.6853del (p.Glu2285ArgfsTer4)
17g.31338710G>ACA399014249NF1c.6808G>A (p.Glu2270Lys)
c.1390G>A (p.Glu464Lys)
n.2648G>A
c.982G>A (p.Glu328Lys)
n.3471G>A
c.6856G>A (p.Glu2286Lys)
c.6826G>A (p.Glu2276Lys)
c.6763G>A (p.Glu2255Lys)
c.5761G>A (p.Glu1921Lys)
c.209G>A
c.6962G>A (n.6962G>A)
c.64+830G>A
n.240G>A
c.6817G>A (p.Glu2273Lys)
c.6793G>A (p.Glu2265Lys)
c.6853G>A (p.Glu2285Lys)
 ClinVar dbSNP
17g.31338710G>CCA399014250NF1c.6808G>C (p.Glu2270Gln)
c.1390G>C (p.Glu464Gln)
n.2648G>C
c.982G>C (p.Glu328Gln)
n.3471G>C
c.6856G>C (p.Glu2286Gln)
c.6826G>C (p.Glu2276Gln)
c.6763G>C (p.Glu2255Gln)
c.5761G>C (p.Glu1921Gln)
c.209G>C
c.6962G>C (n.6962G>C)
c.64+830G>C
n.240G>C
c.6817G>C (p.Glu2273Gln)
c.6793G>C (p.Glu2265Gln)
c.6853G>C (p.Glu2285Gln)
 dbSNP
17g.31338710G=CA2255603113NF1c.6808G= (p.Glu2270=)
c.1390G= (p.Glu464=)
n.2648G=
c.982G= (p.Glu328=)
n.3471G=
c.6856G= (p.Glu2286=)
c.6826G= (p.Glu2276=)
c.6763G= (p.Glu2255=)
c.5761G= (p.Glu1921=)
c.209G=
c.6962G= (n.6962G=)
c.64+830G=
n.240G=
c.6817G= (p.Glu2273=)
c.6793G= (p.Glu2265=)
c.6853G= (p.Glu2285=)
17g.31338710G>TCA399014251NF1c.6808G>T (p.Glu2270Ter)
c.1390G>T (p.Glu464Ter)
n.2648G>T
c.982G>T (p.Glu328Ter)
n.3471G>T
c.6856G>T (p.Glu2286Ter)
c.6826G>T (p.Glu2276Ter)
c.6763G>T (p.Glu2255Ter)
c.5761G>T (p.Glu1921Ter)
c.209G>T
c.6962G>T (n.6962G>T)
c.64+830G>T
n.240G>T
c.6817G>T (p.Glu2273Ter)
c.6793G>T (p.Glu2265Ter)
c.6853G>T (p.Glu2285Ter)
 ClinVar dbSNP
17g.31338713_31338714delCA2255603112NF1c.6811_6812del (p.Ser2271LeufsTer6)
c.1393_1394del (p.Ser465LeufsTer6)
n.2651_2652del
c.985_986del (p.Ser329LeufsTer6)
n.3474_3475del
c.6859_6860del (p.Ser2287LeufsTer6)
c.6829_6830del (p.Ser2277LeufsTer6)
c.6766_6767del (p.Ser2256LeufsTer6)
c.5764_5765del (p.Ser1922LeufsTer6)
c.212_213del
c.6965_6966del (n.6965_6966del)
c.64+833_64+834del
n.243_244del
c.6820_6821del (p.Ser2274LeufsTer6)
c.6796_6797del (p.Ser2266LeufsTer6)
c.6856_6857del (p.Ser2286LeufsTer6)
 ClinVar dbSNP
17g.31338711A>CCA399014252NF1c.6809A>C (p.Glu2270Ala)
c.1391A>C (p.Glu464Ala)
n.2649A>C
c.983A>C (p.Glu328Ala)
n.3472A>C
c.6857A>C (p.Glu2286Ala)
c.6827A>C (p.Glu2276Ala)
c.6764A>C (p.Glu2255Ala)
c.5762A>C (p.Glu1921Ala)
c.210A>C
c.6963A>C (n.6963A>C)
c.64+831A>C
n.241A>C
c.6818A>C (p.Glu2273Ala)
c.6794A>C (p.Glu2265Ala)
c.6854A>C (p.Glu2285Ala)
17g.31338711A>GCA399014253NF1c.6809A>G (p.Glu2270Gly)
c.1391A>G (p.Glu464Gly)
n.2649A>G
c.983A>G (p.Glu328Gly)
n.3472A>G
c.6857A>G (p.Glu2286Gly)
c.6827A>G (p.Glu2276Gly)
c.6764A>G (p.Glu2255Gly)
c.5762A>G (p.Glu1921Gly)
c.210A>G
c.6963A>G (n.6963A>G)
c.64+831A>G
n.241A>G
c.6818A>G (p.Glu2273Gly)
c.6794A>G (p.Glu2265Gly)
c.6854A>G (p.Glu2285Gly)
17g.31338711A>TCA399014254NF1c.6809A>T (p.Glu2270Val)
c.1391A>T (p.Glu464Val)
n.2649A>T
c.983A>T (p.Glu328Val)
n.3472A>T
c.6857A>T (p.Glu2286Val)
c.6827A>T (p.Glu2276Val)
c.6764A>T (p.Glu2255Val)
c.5762A>T (p.Glu1921Val)
c.210A>T
c.6963A>T (n.6963A>T)
c.64+831A>T
n.241A>T
c.6818A>T (p.Glu2273Val)
c.6794A>T (p.Glu2265Val)
c.6854A>T (p.Glu2285Val)
17g.31338711_31338718delCA2695225179NF1c.6809_6816del (p.Glu2270ValfsTer5)
c.1391_1398del (p.Glu464ValfsTer5)
n.2649_2656del
c.983_990del (p.Glu328ValfsTer5)
n.3472_3479del
c.6857_6864del (p.Glu2286ValfsTer5)
c.6827_6834del (p.Glu2276ValfsTer5)
c.6764_6771del (p.Glu2255ValfsTer5)
c.5762_5769del (p.Glu1921ValfsTer5)
c.210_217del
c.6963_6970del (n.6963_6970del)
c.64+831_64+838del
n.241_248del
c.6818_6825del (p.Glu2273ValfsTer5)
c.6794_6801del (p.Glu2265ValfsTer5)
c.6854_6861del (p.Glu2285ValfsTer5)
17g.31338712G>ACA499234325NF1c.6810G>A (p.Glu2270=)
c.1392G>A (p.Glu464=)
n.2650G>A
c.984G>A (p.Glu328=)
n.3473G>A
c.6858G>A (p.Glu2286=)
c.6828G>A (p.Glu2276=)
c.6765G>A (p.Glu2255=)
c.5763G>A (p.Glu1921=)
c.211G>A
c.6964G>A (n.6964G>A)
c.64+832G>A
n.242G>A
c.6819G>A (p.Glu2273=)
c.6795G>A (p.Glu2265=)
c.6855G>A (p.Glu2285=)
 ClinVar dbSNP
17g.31338712G>CCA399014255NF1c.6810G>C (p.Glu2270Asp)
c.1392G>C (p.Glu464Asp)
n.2650G>C
c.984G>C (p.Glu328Asp)
n.3473G>C
c.6858G>C (p.Glu2286Asp)
c.6828G>C (p.Glu2276Asp)
c.6765G>C (p.Glu2255Asp)
c.5763G>C (p.Glu1921Asp)
c.211G>C
c.6964G>C (n.6964G>C)
c.64+832G>C
n.242G>C
c.6819G>C (p.Glu2273Asp)
c.6795G>C (p.Glu2265Asp)
c.6855G>C (p.Glu2285Asp)
 dbSNP
17g.31338712G=CA2255603114NF1c.6810G= (p.Glu2270=)
c.1392G= (p.Glu464=)
n.2650G=
c.984G= (p.Glu328=)
n.3473G=
c.6858G= (p.Glu2286=)
c.6828G= (p.Glu2276=)
c.6765G= (p.Glu2255=)
c.5763G= (p.Glu1921=)
c.211G=
c.6964G= (n.6964G=)
c.64+832G=
n.242G=
c.6819G= (p.Glu2273=)
c.6795G= (p.Glu2265=)
c.6855G= (p.Glu2285=)
17g.31338712G>TCA399014256NF1c.6810G>T (p.Glu2270Asp)
c.1392G>T (p.Glu464Asp)
n.2650G>T
c.984G>T (p.Glu328Asp)
n.3473G>T
c.6858G>T (p.Glu2286Asp)
c.6828G>T (p.Glu2276Asp)
c.6765G>T (p.Glu2255Asp)
c.5763G>T (p.Glu1921Asp)
c.211G>T
c.6964G>T (n.6964G>T)
c.64+832G>T
n.242G>T
c.6819G>T (p.Glu2273Asp)
c.6795G>T (p.Glu2265Asp)
c.6855G>T (p.Glu2285Asp)
 dbSNP
17g.31338713A>CCA399014257NF1c.6811A>C (p.Ser2271Arg)
c.1393A>C (p.Ser465Arg)
n.2651A>C
c.985A>C (p.Ser329Arg)
n.3474A>C
c.6859A>C (p.Ser2287Arg)
c.6829A>C (p.Ser2277Arg)
c.6766A>C (p.Ser2256Arg)
c.5764A>C (p.Ser1922Arg)
c.212A>C
c.6965A>C (n.6965A>C)
c.64+833A>C
n.243A>C
c.6820A>C (p.Ser2274Arg)
c.6796A>C (p.Ser2266Arg)
c.6856A>C (p.Ser2286Arg)
17g.31338713A>GCA399014258NF1c.6811A>G (p.Ser2271Gly)
c.1393A>G (p.Ser465Gly)
n.2651A>G
c.985A>G (p.Ser329Gly)
n.3474A>G
c.6859A>G (p.Ser2287Gly)
c.6829A>G (p.Ser2277Gly)
c.6766A>G (p.Ser2256Gly)
c.5764A>G (p.Ser1922Gly)
c.212A>G
c.6965A>G (n.6965A>G)
c.64+833A>G
n.243A>G
c.6820A>G (p.Ser2274Gly)
c.6796A>G (p.Ser2266Gly)
c.6856A>G (p.Ser2286Gly)
17g.31338713A>TCA399014259NF1c.6811A>T (p.Ser2271Cys)
c.1393A>T (p.Ser465Cys)
n.2651A>T
c.985A>T (p.Ser329Cys)
n.3474A>T
c.6859A>T (p.Ser2287Cys)
c.6829A>T (p.Ser2277Cys)
c.6766A>T (p.Ser2256Cys)
c.5764A>T (p.Ser1922Cys)
c.212A>T
c.6965A>T (n.6965A>T)
c.64+833A>T
n.243A>T
c.6820A>T (p.Ser2274Cys)
c.6796A>T (p.Ser2266Cys)
c.6856A>T (p.Ser2286Cys)
 dbSNP
17g.31338714G>ACA399014260NF1c.6812G>A (p.Ser2271Asn)
c.1394G>A (p.Ser465Asn)
n.2652G>A
c.986G>A (p.Ser329Asn)
n.3475G>A
c.6860G>A (p.Ser2287Asn)
c.6830G>A (p.Ser2277Asn)
c.6767G>A (p.Ser2256Asn)
c.5765G>A (p.Ser1922Asn)
c.213G>A
c.6966G>A (n.6966G>A)
c.64+834G>A
n.244G>A
c.6821G>A (p.Ser2274Asn)
c.6797G>A (p.Ser2266Asn)
c.6857G>A (p.Ser2286Asn)
 ClinVar dbSNP
17g.31338714G>CCA399014261NF1c.6812G>C (p.Ser2271Thr)
c.1394G>C (p.Ser465Thr)
n.2652G>C
c.986G>C (p.Ser329Thr)
n.3475G>C
c.6860G>C (p.Ser2287Thr)
c.6830G>C (p.Ser2277Thr)
c.6767G>C (p.Ser2256Thr)
c.5765G>C (p.Ser1922Thr)
c.213G>C
c.6966G>C (n.6966G>C)
c.64+834G>C
n.244G>C
c.6821G>C (p.Ser2274Thr)
c.6797G>C (p.Ser2266Thr)
c.6857G>C (p.Ser2286Thr)
 dbSNP
17g.31338714G=CA2255603115NF1c.6812G= (p.Ser2271=)
c.1394G= (p.Ser465=)
n.2652G=
c.986G= (p.Ser329=)
n.3475G=
c.6860G= (p.Ser2287=)
c.6830G= (p.Ser2277=)
c.6767G= (p.Ser2256=)
c.5765G= (p.Ser1922=)
c.213G=
c.6966G= (n.6966G=)
c.64+834G=
n.244G=
c.6821G= (p.Ser2274=)
c.6797G= (p.Ser2266=)
c.6857G= (p.Ser2286=)
17g.31338714G>TCA399014262NF1c.6812G>T (p.Ser2271Ile)
c.1394G>T (p.Ser465Ile)
n.2652G>T
c.986G>T (p.Ser329Ile)
n.3475G>T
c.6860G>T (p.Ser2287Ile)
c.6830G>T (p.Ser2277Ile)
c.6767G>T (p.Ser2256Ile)
c.5765G>T (p.Ser1922Ile)
c.213G>T
c.6966G>T (n.6966G>T)
c.64+834G>T
n.244G>T
c.6821G>T (p.Ser2274Ile)
c.6797G>T (p.Ser2266Ile)
c.6857G>T (p.Ser2286Ile)
17g.31338714_31338715delinsGTCA2255603116NF1c.6812_6813delinsGT (p.Ser2271=)
c.1394_1395delinsGT (p.Ser465=)
n.2652_2653delinsGT
c.986_987delinsGT (p.Ser329=)
n.3475_3476delinsGT
c.6860_6861delinsGT (p.Ser2287=)
c.6830_6831delinsGT (p.Ser2277=)
c.6767_6768delinsGT (p.Ser2256=)
c.5765_5766delinsGT (p.Ser1922=)
c.213_214delinsGT
c.6966_6967delinsGT (n.6966_6967delinsGT)
c.64+834_64+835delinsGT
n.244_245delinsGT
c.6821_6822delinsGT (p.Ser2274=)
c.6797_6798delinsGT (p.Ser2266=)
c.6857_6858delinsGT (p.Ser2286=)
17g.31338715T>ACA399014263NF1c.6813T>A (p.Ser2271Arg)
c.1395T>A (p.Ser465Arg)
n.2653T>A
c.987T>A (p.Ser329Arg)
n.3476T>A
c.6861T>A (p.Ser2287Arg)
c.6831T>A (p.Ser2277Arg)
c.6768T>A (p.Ser2256Arg)
c.5766T>A (p.Ser1922Arg)
c.214T>A
c.6967T>A (n.6967T>A)
c.64+835T>A
n.245T>A
c.6822T>A (p.Ser2274Arg)
c.6798T>A (p.Ser2266Arg)
c.6858T>A (p.Ser2286Arg)
 dbSNP
17g.31338715T>CCA499234326NF1c.6813T>C (p.Ser2271=)
c.1395T>C (p.Ser465=)
n.2653T>C
c.987T>C (p.Ser329=)
n.3476T>C
c.6861T>C (p.Ser2287=)
c.6831T>C (p.Ser2277=)
c.6768T>C (p.Ser2256=)
c.5766T>C (p.Ser1922=)
c.214T>C
c.6967T>C (n.6967T>C)
c.64+835T>C
n.245T>C
c.6822T>C (p.Ser2274=)
c.6798T>C (p.Ser2266=)
c.6858T>C (p.Ser2286=)
17g.31338715T>GCA399014264NF1c.6813T>G (p.Ser2271Arg)
c.1395T>G (p.Ser465Arg)
n.2653T>G
c.987T>G (p.Ser329Arg)
n.3476T>G
c.6861T>G (p.Ser2287Arg)
c.6831T>G (p.Ser2277Arg)
c.6768T>G (p.Ser2256Arg)
c.5766T>G (p.Ser1922Arg)
c.214T>G
c.6967T>G (n.6967T>G)
c.64+835T>G
n.245T>G
c.6822T>G (p.Ser2274Arg)
c.6798T>G (p.Ser2266Arg)
c.6858T>G (p.Ser2286Arg)
17g.31338716delCA658760992NF1c.6814del (p.Cys2272AlafsTer2)
c.1396del (p.Cys466AlafsTer2)
n.2654del
c.988del (p.Cys330AlafsTer2)
n.3477del
c.6862del (p.Cys2288AlafsTer2)
c.6832del (p.Cys2278AlafsTer2)
c.6769del (p.Cys2257AlafsTer2)
c.5767del (p.Cys1923AlafsTer2)
c.215del
c.6968del (n.6968del)
c.64+836del
n.246del
c.6823del (p.Cys2275AlafsTer2)
c.6799del (p.Cys2267AlafsTer2)
c.6859del (p.Cys2287AlafsTer2)
 ClinVar dbSNP
17g.31338716T>ACA399014265NF1c.6814T>A (p.Cys2272Ser)
c.1396T>A (p.Cys466Ser)
n.2654T>A
c.988T>A (p.Cys330Ser)
n.3477T>A
c.6862T>A (p.Cys2288Ser)
c.6832T>A (p.Cys2278Ser)
c.6769T>A (p.Cys2257Ser)
c.5767T>A (p.Cys1923Ser)
c.215T>A
c.6968T>A (n.6968T>A)
c.64+836T>A
n.246T>A
c.6823T>A (p.Cys2275Ser)
c.6799T>A (p.Cys2267Ser)
c.6859T>A (p.Cys2287Ser)
 ClinVar dbSNP
17g.31338716T>CCA399014266NF1c.6814T>C (p.Cys2272Arg)
c.1396T>C (p.Cys466Arg)
n.2654T>C
c.988T>C (p.Cys330Arg)
n.3477T>C
c.6862T>C (p.Cys2288Arg)
c.6832T>C (p.Cys2278Arg)
c.6769T>C (p.Cys2257Arg)
c.5767T>C (p.Cys1923Arg)
c.215T>C
c.6968T>C (n.6968T>C)
c.64+836T>C
n.246T>C
c.6823T>C (p.Cys2275Arg)
c.6799T>C (p.Cys2267Arg)
c.6859T>C (p.Cys2287Arg)
17g.31338716T>GCA399014267NF1c.6814T>G (p.Cys2272Gly)
c.1396T>G (p.Cys466Gly)
n.2654T>G
c.988T>G (p.Cys330Gly)
n.3477T>G
c.6862T>G (p.Cys2288Gly)
c.6832T>G (p.Cys2278Gly)
c.6769T>G (p.Cys2257Gly)
c.5767T>G (p.Cys1923Gly)
c.215T>G
c.6968T>G (n.6968T>G)
c.64+836T>G
n.246T>G
c.6823T>G (p.Cys2275Gly)
c.6799T>G (p.Cys2267Gly)
c.6859T>G (p.Cys2287Gly)
 ClinVar dbSNP
17g.31338716T=CA2255603117NF1c.6814T= (p.Cys2272=)
c.1396T= (p.Cys466=)
n.2654T=
c.988T= (p.Cys330=)
n.3477T=
c.6862T= (p.Cys2288=)
c.6832T= (p.Cys2278=)
c.6769T= (p.Cys2257=)
c.5767T= (p.Cys1923=)
c.215T=
c.6968T= (n.6968T=)
c.64+836T=
n.246T=
c.6823T= (p.Cys2275=)
c.6799T= (p.Cys2267=)
c.6859T= (p.Cys2287=)
17g.31338716_31338717insAAACA2697559621NF1c.6814_6815insAAA (p.Cys2272Ter)
c.1396_1397insAAA (p.Cys466Ter)
n.2654_2655insAAA
c.988_989insAAA (p.Cys330Ter)
n.3477_3478insAAA
c.6862_6863insAAA (p.Cys2288Ter)
c.6832_6833insAAA (p.Cys2278Ter)
c.6769_6770insAAA (p.Cys2257Ter)
c.5767_5768insAAA (p.Cys1923Ter)
c.215_216insAAA
c.6968_6969insAAA (n.6968_6969insAAA)
c.64+836_64+837insAAA
n.246_247insAAA
c.6823_6824insAAA (p.Cys2275Ter)
c.6799_6800insAAA (p.Cys2267Ter)
c.6859_6860insAAA (p.Cys2287Ter)
 ClinVar
17g.31338717G>ACA399014268NF1c.6815G>A (p.Cys2272Tyr)
c.1397G>A (p.Cys466Tyr)
n.2655G>A
c.989G>A (p.Cys330Tyr)
n.3478G>A
c.6863G>A (p.Cys2288Tyr)
c.6833G>A (p.Cys2278Tyr)
c.6770G>A (p.Cys2257Tyr)
c.5768G>A (p.Cys1923Tyr)
c.216G>A
c.6969G>A (n.6969G>A)
c.64+837G>A
n.247G>A
c.6824G>A (p.Cys2275Tyr)
c.6800G>A (p.Cys2267Tyr)
c.6860G>A (p.Cys2287Tyr)
 dbSNP
17g.31338717G>CCA399014269NF1c.6815G>C (p.Cys2272Ser)
c.1397G>C (p.Cys466Ser)
n.2655G>C
c.989G>C (p.Cys330Ser)
n.3478G>C
c.6863G>C (p.Cys2288Ser)
c.6833G>C (p.Cys2278Ser)
c.6770G>C (p.Cys2257Ser)
c.5768G>C (p.Cys1923Ser)
c.216G>C
c.6969G>C (n.6969G>C)
c.64+837G>C
n.247G>C
c.6824G>C (p.Cys2275Ser)
c.6800G>C (p.Cys2267Ser)
c.6860G>C (p.Cys2287Ser)
 dbSNP gnomAD v4
17g.31338717G>TCA399014270NF1c.6815G>T (p.Cys2272Phe)
c.1397G>T (p.Cys466Phe)
n.2655G>T
c.989G>T (p.Cys330Phe)
n.3478G>T
c.6863G>T (p.Cys2288Phe)
c.6833G>T (p.Cys2278Phe)
c.6770G>T (p.Cys2257Phe)
c.5768G>T (p.Cys1923Phe)
c.216G>T
c.6969G>T (n.6969G>T)
c.64+837G>T
n.247G>T
c.6824G>T (p.Cys2275Phe)
c.6800G>T (p.Cys2267Phe)
c.6860G>T (p.Cys2287Phe)
17g.31338717dupCA658824588NF1c.6815dup (p.Cys2272TrpfsTer6)
c.1397dup (p.Cys466TrpfsTer6)
n.2655dup
c.989dup (p.Cys330TrpfsTer6)
n.3478dup
c.6863dup (p.Cys2288TrpfsTer6)
c.6833dup (p.Cys2278TrpfsTer6)
c.6770dup (p.Cys2257TrpfsTer6)
c.5768dup (p.Cys1923TrpfsTer6)
c.216dup
c.6969dup (n.6969dup)
c.64+837dup
n.247dup
c.6824dup (p.Cys2275TrpfsTer6)
c.6800dup (p.Cys2267TrpfsTer6)
c.6860dup (p.Cys2287TrpfsTer6)
 ClinVar dbSNP
17g.31338718C>ACA399014271NF1c.6816C>A (p.Cys2272Ter)
c.1398C>A (p.Cys466Ter)
n.2656C>A
c.990C>A (p.Cys330Ter)
n.3479C>A
c.6864C>A (p.Cys2288Ter)
c.6834C>A (p.Cys2278Ter)
c.6771C>A (p.Cys2257Ter)
c.5769C>A (p.Cys1923Ter)
c.217C>A
c.6970C>A (n.6970C>A)
c.64+838C>A
n.248C>A
c.6825C>A (p.Cys2275Ter)
c.6801C>A (p.Cys2267Ter)
c.6861C>A (p.Cys2287Ter)
17g.31338718C=CA2255603118NF1c.6816C= (p.Cys2272=)
c.1398C= (p.Cys466=)
n.2656C=
c.990C= (p.Cys330=)
n.3479C=
c.6864C= (p.Cys2288=)
c.6834C= (p.Cys2278=)
c.6771C= (p.Cys2257=)
c.5769C= (p.Cys1923=)
c.217C=
c.6970C= (n.6970C=)
c.64+838C=
n.248C=
c.6825C= (p.Cys2275=)
c.6801C= (p.Cys2267=)
c.6861C= (p.Cys2287=)
17g.31338718C>GCA399014272NF1c.6816C>G (p.Cys2272Trp)
c.1398C>G (p.Cys466Trp)
n.2656C>G
c.990C>G (p.Cys330Trp)
n.3479C>G
c.6864C>G (p.Cys2288Trp)
c.6834C>G (p.Cys2278Trp)
c.6771C>G (p.Cys2257Trp)
c.5769C>G (p.Cys1923Trp)
c.217C>G
c.6970C>G (n.6970C>G)
c.64+838C>G
n.248C>G
c.6825C>G (p.Cys2275Trp)
c.6801C>G (p.Cys2267Trp)
c.6861C>G (p.Cys2287Trp)
 dbSNP
17g.31338718C>TCA8487439NF1c.6816C>T (p.Cys2272=)
c.1398C>T (p.Cys466=)
n.2656C>T
c.990C>T (p.Cys330=)
n.3479C>T
c.6864C>T (p.Cys2288=)
c.6834C>T (p.Cys2278=)
c.6771C>T (p.Cys2257=)
c.5769C>T (p.Cys1923=)
c.217C>T
c.6970C>T (n.6970C>T)
c.64+838C>T
n.248C>T
c.6825C>T (p.Cys2275=)
c.6801C>T (p.Cys2267=)
c.6861C>T (p.Cys2287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31338719T>ACA399014273NF1c.6817T>A (p.Leu2273Ile)
c.1399T>A (p.Leu467Ile)
n.2657T>A
c.991T>A (p.Leu331Ile)
n.3480T>A
c.6865T>A (p.Leu2289Ile)
c.6835T>A (p.Leu2279Ile)
c.6772T>A (p.Leu2258Ile)
c.5770T>A (p.Leu1924Ile)
c.218T>A
c.6971T>A (n.6971T>A)
c.64+839T>A
n.249T>A
c.6826T>A (p.Leu2276Ile)
c.6802T>A (p.Leu2268Ile)
c.6862T>A (p.Leu2288Ile)
 ClinVar dbSNP
17g.31338719T>CCA499234327NF1c.6817T>C (p.Leu2273=)
c.1399T>C (p.Leu467=)
n.2657T>C
c.991T>C (p.Leu331=)
n.3480T>C
c.6865T>C (p.Leu2289=)
c.6835T>C (p.Leu2279=)
c.6772T>C (p.Leu2258=)
c.5770T>C (p.Leu1924=)
c.218T>C
c.6971T>C (n.6971T>C)
c.64+839T>C
n.249T>C
c.6826T>C (p.Leu2276=)
c.6802T>C (p.Leu2268=)
c.6862T>C (p.Leu2288=)
17g.31338719T>GCA399014274NF1c.6817T>G (p.Leu2273Val)
c.1399T>G (p.Leu467Val)
n.2657T>G
c.991T>G (p.Leu331Val)
n.3480T>G
c.6865T>G (p.Leu2289Val)
c.6835T>G (p.Leu2279Val)
c.6772T>G (p.Leu2258Val)
c.5770T>G (p.Leu1924Val)
c.218T>G
c.6971T>G (n.6971T>G)
c.64+839T>G
n.249T>G
c.6826T>G (p.Leu2276Val)
c.6802T>G (p.Leu2268Val)
c.6862T>G (p.Leu2288Val)
17g.31338720dupCA2573153876NF1c.6818dup (p.Leu2273PhefsTer5)
c.1400dup (p.Leu467PhefsTer5)
n.2658dup
c.992dup (p.Leu331PhefsTer5)
n.3481dup
c.6866dup (p.Leu2289PhefsTer5)
c.6836dup (p.Leu2279PhefsTer5)
c.6773dup (p.Leu2258PhefsTer5)
c.5771dup (p.Leu1924PhefsTer5)
c.219dup
c.6972dup (n.6972dup)
c.64+840dup
n.250dup
c.6827dup (p.Leu2276PhefsTer5)
c.6803dup (p.Leu2268PhefsTer5)
c.6863dup (p.Leu2288PhefsTer5)
 ClinVar dbSNP
17g.31338719_31338720dupCA915949969NF1c.6817_6818dup (p.Leu2273PhefsTer2)
c.1399_1400dup (p.Leu467PhefsTer2)
n.2657_2658dup
c.991_992dup (p.Leu331PhefsTer2)
n.3480_3481dup
c.6865_6866dup (p.Leu2289PhefsTer2)
c.6835_6836dup (p.Leu2279PhefsTer2)
c.6772_6773dup (p.Leu2258PhefsTer2)
c.5770_5771dup (p.Leu1924PhefsTer2)
c.218_219dup
c.6971_6972dup (n.6971_6972dup)
c.64+839_64+840dup
n.249_250dup
c.6826_6827dup (p.Leu2276PhefsTer2)
c.6802_6803dup (p.Leu2268PhefsTer2)
c.6862_6863dup (p.Leu2288PhefsTer2)
 ClinVar dbSNP
17g.31338720delCA2695225180NF1c.6818del (p.Leu2273Ter)
c.1400del (p.Leu467Ter)
n.2658del
c.992del (p.Leu331Ter)
n.3481del
c.6866del (p.Leu2289Ter)
c.6836del (p.Leu2279Ter)
c.6773del (p.Leu2258Ter)
c.5771del (p.Leu1924Ter)
c.219del
c.6972del (n.6972del)
c.64+840del
n.250del
c.6827del (p.Leu2276Ter)
c.6803del (p.Leu2268Ter)
c.6863del (p.Leu2288Ter)
17g.31338720T>ACA399014275NF1c.6818T>A (p.Leu2273Ter)
c.1400T>A (p.Leu467Ter)
n.2658T>A
c.992T>A (p.Leu331Ter)
n.3481T>A
c.6866T>A (p.Leu2289Ter)
c.6836T>A (p.Leu2279Ter)
c.6773T>A (p.Leu2258Ter)
c.5771T>A (p.Leu1924Ter)
c.219T>A
c.6972T>A (n.6972T>A)
c.64+840T>A
n.250T>A
c.6827T>A (p.Leu2276Ter)
c.6803T>A (p.Leu2268Ter)
c.6863T>A (p.Leu2288Ter)
17g.31338720T>CCA399014276NF1c.6818T>C (p.Leu2273Ser)
c.1400T>C (p.Leu467Ser)
n.2658T>C
c.992T>C (p.Leu331Ser)
n.3481T>C
c.6866T>C (p.Leu2289Ser)
c.6836T>C (p.Leu2279Ser)
c.6773T>C (p.Leu2258Ser)
c.5771T>C (p.Leu1924Ser)
c.219T>C
c.6972T>C (n.6972T>C)
c.64+840T>C
n.250T>C
c.6827T>C (p.Leu2276Ser)
c.6803T>C (p.Leu2268Ser)
c.6863T>C (p.Leu2288Ser)
17g.31338720T>GCA399014277NF1c.6818T>G (p.Leu2273Ter)
c.1400T>G (p.Leu467Ter)
n.2658T>G
c.992T>G (p.Leu331Ter)
n.3481T>G
c.6866T>G (p.Leu2289Ter)
c.6836T>G (p.Leu2279Ter)
c.6773T>G (p.Leu2258Ter)
c.5771T>G (p.Leu1924Ter)
c.219T>G
c.6972T>G (n.6972T>G)
c.64+840T>G
n.250T>G
c.6827T>G (p.Leu2276Ter)
c.6803T>G (p.Leu2268Ter)
c.6863T>G (p.Leu2288Ter)
 ClinVar
17g.31338720_31338721delinsTACA2255603119NF1c.6818_6819delinsTA (p.Leu2273=)
c.1400_1401delinsTA (p.Leu467=)
n.2658_2659delinsTA
c.992_993delinsTA (p.Leu331=)
n.3481_3482delinsTA
c.6866_6867delinsTA (p.Leu2289=)
c.6836_6837delinsTA (p.Leu2279=)
c.6773_6774delinsTA (p.Leu2258=)
c.5771_5772delinsTA (p.Leu1924=)
c.219_220delinsTA
c.6972_6973delinsTA (n.6972_6973delinsTA)
c.64+840_64+841delinsTA
n.250_251delinsTA
c.6827_6828delinsTA (p.Leu2276=)
c.6803_6804delinsTA (p.Leu2268=)
c.6863_6864delinsTA (p.Leu2288=)
17g.31338721A=CA2255603120NF1c.6819A= (p.Leu2273=)
c.1401A= (p.Leu467=)
n.2659A=
c.993A= (p.Leu331=)
n.3482A=
c.6867A= (p.Leu2289=)
c.6837A= (p.Leu2279=)
c.6774A= (p.Leu2258=)
c.5772A= (p.Leu1924=)
c.220A=
c.6973A= (n.6973A=)
c.64+841A=
n.251A=
c.6828A= (p.Leu2276=)
c.6804A= (p.Leu2268=)
c.6864A= (p.Leu2288=)
17g.31338721A>CCA289388306NF1c.6819A>C (p.Leu2273Phe)
c.1401A>C (p.Leu467Phe)
n.2659A>C
c.993A>C (p.Leu331Phe)
n.3482A>C
c.6867A>C (p.Leu2289Phe)
c.6837A>C (p.Leu2279Phe)
c.6774A>C (p.Leu2258Phe)
c.5772A>C (p.Leu1924Phe)
c.220A>C
c.6973A>C (n.6973A>C)
c.64+841A>C
n.251A>C
c.6828A>C (p.Leu2276Phe)
c.6804A>C (p.Leu2268Phe)
c.6864A>C (p.Leu2288Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31338721A>GCA499234328NF1c.6819A>G (p.Leu2273=)
c.1401A>G (p.Leu467=)
n.2659A>G
c.993A>G (p.Leu331=)
n.3482A>G
c.6867A>G (p.Leu2289=)
c.6837A>G (p.Leu2279=)
c.6774A>G (p.Leu2258=)
c.5772A>G (p.Leu1924=)
c.220A>G
c.6973A>G (n.6973A>G)
c.64+841A>G
n.251A>G
c.6828A>G (p.Leu2276=)
c.6804A>G (p.Leu2268=)
c.6864A>G (p.Leu2288=)
 ClinVar dbSNP
17g.31338721A>TCA399014278NF1c.6819A>T (p.Leu2273Phe)
c.1401A>T (p.Leu467Phe)
n.2659A>T
c.993A>T (p.Leu331Phe)
n.3482A>T
c.6867A>T (p.Leu2289Phe)
c.6837A>T (p.Leu2279Phe)
c.6774A>T (p.Leu2258Phe)
c.5772A>T (p.Leu1924Phe)
c.220A>T
c.6973A>T (n.6973A>T)
c.64+841A>T
n.251A>T
c.6828A>T (p.Leu2276Phe)
c.6804A>T (p.Leu2268Phe)
c.6864A>T (p.Leu2288Phe)
 dbSNP
17g.31338724delCA1139665459NF1c.6822del (p.Gly2275AspfsTer10)
c.1404del (p.Gly469AspfsTer10)
n.2662del
c.996del (p.Gly333AspfsTer10)
n.3485del
c.6870del (p.Gly2291AspfsTer10)
c.6840del (p.Gly2281AspfsTer10)
c.6777del (p.Gly2260AspfsTer10)
c.5775del (p.Gly1926AspfsTer10)
c.223del
c.6976del (n.6976del)
c.64+844del
n.254del
c.6831del (p.Gly2278AspfsTer10)
c.6807del (p.Gly2270AspfsTer10)
c.6867del (p.Gly2290AspfsTer10)
 ClinVar dbSNP
17g.31338722A>CCA399014279NF1c.6820A>C (p.Lys2274Gln)
c.1402A>C (p.Lys468Gln)
n.2660A>C
c.994A>C (p.Lys332Gln)
n.3483A>C
c.6868A>C (p.Lys2290Gln)
c.6838A>C (p.Lys2280Gln)
c.6775A>C (p.Lys2259Gln)
c.5773A>C (p.Lys1925Gln)
c.221A>C
c.6974A>C (n.6974A>C)
c.64+842A>C
n.252A>C
c.6829A>C (p.Lys2277Gln)
c.6805A>C (p.Lys2269Gln)
c.6865A>C (p.Lys2289Gln)
17g.31338722A>GCA399014281NF1c.6820A>G (p.Lys2274Glu)
c.1402A>G (p.Lys468Glu)
n.2660A>G
c.994A>G (p.Lys332Glu)
n.3483A>G
c.6868A>G (p.Lys2290Glu)
c.6838A>G (p.Lys2280Glu)
c.6775A>G (p.Lys2259Glu)
c.5773A>G (p.Lys1925Glu)
c.221A>G
c.6974A>G (n.6974A>G)
c.64+842A>G
n.252A>G
c.6829A>G (p.Lys2277Glu)
c.6805A>G (p.Lys2269Glu)
c.6865A>G (p.Lys2289Glu)
17g.31338722A>TCA399014280NF1c.6820A>T (p.Lys2274Ter)
c.1402A>T (p.Lys468Ter)
n.2660A>T
c.994A>T (p.Lys332Ter)
n.3483A>T
c.6868A>T (p.Lys2290Ter)
c.6838A>T (p.Lys2280Ter)
c.6775A>T (p.Lys2259Ter)
c.5773A>T (p.Lys1925Ter)
c.221A>T
c.6974A>T (n.6974A>T)
c.64+842A>T
n.252A>T
c.6829A>T (p.Lys2277Ter)
c.6805A>T (p.Lys2269Ter)
c.6865A>T (p.Lys2289Ter)
17g.31338723A=CA2255603121NF1c.6821A= (p.Lys2274=)
c.1403A= (p.Lys468=)
n.2661A=
c.995A= (p.Lys332=)
n.3484A=
c.6869A= (p.Lys2290=)
c.6839A= (p.Lys2280=)
c.6776A= (p.Lys2259=)
c.5774A= (p.Lys1925=)
c.222A=
c.6975A= (n.6975A=)
c.64+843A=
n.253A=
c.6830A= (p.Lys2277=)
c.6806A= (p.Lys2269=)
c.6866A= (p.Lys2289=)
17g.31338723A>CCA399014282NF1c.6821A>C (p.Lys2274Thr)
c.1403A>C (p.Lys468Thr)
n.2661A>C
c.995A>C (p.Lys332Thr)
n.3484A>C
c.6869A>C (p.Lys2290Thr)
c.6839A>C (p.Lys2280Thr)
c.6776A>C (p.Lys2259Thr)
c.5774A>C (p.Lys1925Thr)
c.222A>C
c.6975A>C (n.6975A>C)
c.64+843A>C
n.253A>C
c.6830A>C (p.Lys2277Thr)
c.6806A>C (p.Lys2269Thr)
c.6866A>C (p.Lys2289Thr)
17g.31338723A>GCA8487440NF1c.6821A>G (p.Lys2274Arg)
c.1403A>G (p.Lys468Arg)
n.2661A>G
c.995A>G (p.Lys332Arg)
n.3484A>G
c.6869A>G (p.Lys2290Arg)
c.6839A>G (p.Lys2280Arg)
c.6776A>G (p.Lys2259Arg)
c.5774A>G (p.Lys1925Arg)
c.222A>G
c.6975A>G (n.6975A>G)
c.64+843A>G
n.253A>G
c.6830A>G (p.Lys2277Arg)
c.6806A>G (p.Lys2269Arg)
c.6866A>G (p.Lys2289Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338723A>TCA399014283NF1c.6821A>T (p.Lys2274Ile)
c.1403A>T (p.Lys468Ile)
n.2661A>T
c.995A>T (p.Lys332Ile)
n.3484A>T
c.6869A>T (p.Lys2290Ile)
c.6839A>T (p.Lys2280Ile)
c.6776A>T (p.Lys2259Ile)
c.5774A>T (p.Lys1925Ile)
c.222A>T
c.6975A>T (n.6975A>T)
c.64+843A>T
n.253A>T
c.6830A>T (p.Lys2277Ile)
c.6806A>T (p.Lys2269Ile)
c.6866A>T (p.Lys2289Ile)
17g.31338724A>CCA399014284NF1c.6822A>C (p.Lys2274Asn)
c.1404A>C (p.Lys468Asn)
n.2662A>C
c.996A>C (p.Lys332Asn)
n.3485A>C
c.6870A>C (p.Lys2290Asn)
c.6840A>C (p.Lys2280Asn)
c.6777A>C (p.Lys2259Asn)
c.5775A>C (p.Lys1925Asn)
c.223A>C
c.6976A>C (n.6976A>C)
c.64+844A>C
n.254A>C
c.6831A>C (p.Lys2277Asn)
c.6807A>C (p.Lys2269Asn)
c.6867A>C (p.Lys2289Asn)
17g.31338724A>GCA499234329NF1c.6822A>G (p.Lys2274=)
c.1404A>G (p.Lys468=)
n.2662A>G
c.996A>G (p.Lys332=)
n.3485A>G
c.6870A>G (p.Lys2290=)
c.6840A>G (p.Lys2280=)
c.6777A>G (p.Lys2259=)
c.5775A>G (p.Lys1925=)
c.223A>G
c.6976A>G (n.6976A>G)
c.64+844A>G
n.254A>G
c.6831A>G (p.Lys2277=)
c.6807A>G (p.Lys2269=)
c.6867A>G (p.Lys2289=)
 dbSNP
17g.31338724A>TCA399014285NF1c.6822A>T (p.Lys2274Asn)
c.1404A>T (p.Lys468Asn)
n.2662A>T
c.996A>T (p.Lys332Asn)
n.3485A>T
c.6870A>T (p.Lys2290Asn)
c.6840A>T (p.Lys2280Asn)
c.6777A>T (p.Lys2259Asn)
c.5775A>T (p.Lys1925Asn)
c.223A>T
c.6976A>T (n.6976A>T)
c.64+844A>T
n.254A>T
c.6831A>T (p.Lys2277Asn)
c.6807A>T (p.Lys2269Asn)
c.6867A>T (p.Lys2289Asn)
 dbSNP
17g.31338725G>ACA399014286NF1c.6823G>A (p.Gly2275Arg)
c.1405G>A (p.Gly469Arg)
n.2663G>A
c.997G>A (p.Gly333Arg)
n.3486G>A
c.6871G>A (p.Gly2291Arg)
c.6841G>A (p.Gly2281Arg)
c.6778G>A (p.Gly2260Arg)
c.5776G>A (p.Gly1926Arg)
c.224G>A
c.6977G>A (n.6977G>A)
c.64+845G>A
n.255G>A
c.6832G>A (p.Gly2278Arg)
c.6808G>A (p.Gly2270Arg)
c.6868G>A (p.Gly2290Arg)
 ClinVar dbSNP
17g.31338725G>CCA399014287NF1c.6823G>C (p.Gly2275Arg)
c.1405G>C (p.Gly469Arg)
n.2663G>C
c.997G>C (p.Gly333Arg)
n.3486G>C
c.6871G>C (p.Gly2291Arg)
c.6841G>C (p.Gly2281Arg)
c.6778G>C (p.Gly2260Arg)
c.5776G>C (p.Gly1926Arg)
c.224G>C
c.6977G>C (n.6977G>C)
c.64+845G>C
n.255G>C
c.6832G>C (p.Gly2278Arg)
c.6808G>C (p.Gly2270Arg)
c.6868G>C (p.Gly2290Arg)
 gnomAD v4
17g.31338725G=CA2255603122NF1c.6823G= (p.Gly2275=)
c.1405G= (p.Gly469=)
n.2663G=
c.997G= (p.Gly333=)
n.3486G=
c.6871G= (p.Gly2291=)
c.6841G= (p.Gly2281=)
c.6778G= (p.Gly2260=)
c.5776G= (p.Gly1926=)
c.224G=
c.6977G= (n.6977G=)
c.64+845G=
n.255G=
c.6832G= (p.Gly2278=)
c.6808G= (p.Gly2270=)
c.6868G= (p.Gly2290=)
17g.31338725G>TCA399014288NF1c.6823G>T (p.Gly2275Ter)
c.1405G>T (p.Gly469Ter)
n.2663G>T
c.997G>T (p.Gly333Ter)
n.3486G>T
c.6871G>T (p.Gly2291Ter)
c.6841G>T (p.Gly2281Ter)
c.6778G>T (p.Gly2260Ter)
c.5776G>T (p.Gly1926Ter)
c.224G>T
c.6977G>T (n.6977G>T)
c.64+845G>T
n.255G>T
c.6832G>T (p.Gly2278Ter)
c.6808G>T (p.Gly2270Ter)
c.6868G>T (p.Gly2290Ter)
 ClinVar dbSNP
17g.31338726G>ACA399014289NF1c.6824G>A (p.Gly2275Glu)
c.1406G>A (p.Gly469Glu)
n.2664G>A
c.998G>A (p.Gly333Glu)
n.3487G>A
c.6872G>A (p.Gly2291Glu)
c.6842G>A (p.Gly2281Glu)
c.6779G>A (p.Gly2260Glu)
c.5777G>A (p.Gly1926Glu)
c.225G>A
c.6978G>A (n.6978G>A)
c.64+846G>A
n.256G>A
c.6833G>A (p.Gly2278Glu)
c.6809G>A (p.Gly2270Glu)
c.6869G>A (p.Gly2290Glu)
 dbSNP
17g.31338726G>CCA399014290NF1c.6824G>C (p.Gly2275Ala)
c.1406G>C (p.Gly469Ala)
n.2664G>C
c.998G>C (p.Gly333Ala)
n.3487G>C
c.6872G>C (p.Gly2291Ala)
c.6842G>C (p.Gly2281Ala)
c.6779G>C (p.Gly2260Ala)
c.5777G>C (p.Gly1926Ala)
c.225G>C
c.6978G>C (n.6978G>C)
c.64+846G>C
n.256G>C
c.6833G>C (p.Gly2278Ala)
c.6809G>C (p.Gly2270Ala)
c.6869G>C (p.Gly2290Ala)
 dbSNP
17g.31338726G>TCA399014291NF1c.6824G>T (p.Gly2275Val)
c.1406G>T (p.Gly469Val)
n.2664G>T
c.998G>T (p.Gly333Val)
n.3487G>T
c.6872G>T (p.Gly2291Val)
c.6842G>T (p.Gly2281Val)
c.6779G>T (p.Gly2260Val)
c.5777G>T (p.Gly1926Val)
c.225G>T
c.6978G>T (n.6978G>T)
c.64+846G>T
n.256G>T
c.6833G>T (p.Gly2278Val)
c.6809G>T (p.Gly2270Val)
c.6869G>T (p.Gly2290Val)
17g.31338727A=CA2255603123NF1c.6825A= (p.Gly2275=)
c.1407A= (p.Gly469=)
n.2665A=
c.999A= (p.Gly333=)
n.3488A=
c.6873A= (p.Gly2291=)
c.6843A= (p.Gly2281=)
c.6780A= (p.Gly2260=)
c.5778A= (p.Gly1926=)
c.226A=
c.6979A= (n.6979A=)
c.64+847A=
n.257A=
c.6834A= (p.Gly2278=)
c.6810A= (p.Gly2270=)
c.6870A= (p.Gly2290=)
17g.31338727A>CCA499234330NF1c.6825A>C (p.Gly2275=)
c.1407A>C (p.Gly469=)
n.2665A>C
c.999A>C (p.Gly333=)
n.3488A>C
c.6873A>C (p.Gly2291=)
c.6843A>C (p.Gly2281=)
c.6780A>C (p.Gly2260=)
c.5778A>C (p.Gly1926=)
c.226A>C
c.6979A>C (n.6979A>C)
c.64+847A>C
n.257A>C
c.6834A>C (p.Gly2278=)
c.6810A>C (p.Gly2270=)
c.6870A>C (p.Gly2290=)
 dbSNP
17g.31338727A>GCA499234331NF1c.6825A>G (p.Gly2275=)
c.1407A>G (p.Gly469=)
n.2665A>G
c.999A>G (p.Gly333=)
n.3488A>G
c.6873A>G (p.Gly2291=)
c.6843A>G (p.Gly2281=)
c.6780A>G (p.Gly2260=)
c.5778A>G (p.Gly1926=)
c.226A>G
c.6979A>G (n.6979A>G)
c.64+847A>G
n.257A>G
c.6834A>G (p.Gly2278=)
c.6810A>G (p.Gly2270=)
c.6870A>G (p.Gly2290=)
17g.31338727A>TCA499234332NF1c.6825A>T (p.Gly2275=)
c.1407A>T (p.Gly469=)
n.2665A>T
c.999A>T (p.Gly333=)
n.3488A>T
c.6873A>T (p.Gly2291=)
c.6843A>T (p.Gly2281=)
c.6780A>T (p.Gly2260=)
c.5778A>T (p.Gly1926=)
c.226A>T
c.6979A>T (n.6979A>T)
c.64+847A>T
n.257A>T
c.6834A>T (p.Gly2278=)
c.6810A>T (p.Gly2270=)
c.6870A>T (p.Gly2290=)
 dbSNP
17g.31338727_31338728delinsACCA2255603124NF1c.6825_6826delinsAC (p.Gly2275=)
c.1407_1408delinsAC (p.Gly469=)
n.2665_2666delinsAC
c.999_1000delinsAC (p.Gly333=)
n.3488_3489delinsAC
c.6873_6874delinsAC (p.Gly2291=)
c.6843_6844delinsAC (p.Gly2281=)
c.6780_6781delinsAC (p.Gly2260=)
c.5778_5779delinsAC (p.Gly1926=)
c.226_227delinsAC
c.6979_6980delinsAC (n.6979_6980delinsAC)
c.64+847_64+848delinsAC
n.257_258delinsAC
c.6834_6835delinsAC (p.Gly2278=)
c.6810_6811delinsAC (p.Gly2270=)
c.6870_6871delinsAC (p.Gly2290=)
17g.31338728C>ACA399014294NF1c.6826C>A (p.Pro2276Thr)
c.1408C>A (p.Pro470Thr)
n.2666C>A
c.1000C>A (p.Pro334Thr)
n.3489C>A
c.6874C>A (p.Pro2292Thr)
c.6844C>A (p.Pro2282Thr)
c.6781C>A (p.Pro2261Thr)
c.5779C>A (p.Pro1927Thr)
c.227C>A
c.6980C>A (n.6980C>A)
c.64+848C>A
n.258C>A
c.6835C>A (p.Pro2279Thr)
c.6811C>A (p.Pro2271Thr)
c.6871C>A (p.Pro2291Thr)
17g.31338728C>GCA399014293NF1c.6826C>G (p.Pro2276Ala)
c.1408C>G (p.Pro470Ala)
n.2666C>G
c.1000C>G (p.Pro334Ala)
n.3489C>G
c.6874C>G (p.Pro2292Ala)
c.6844C>G (p.Pro2282Ala)
c.6781C>G (p.Pro2261Ala)
c.5779C>G (p.Pro1927Ala)
c.227C>G
c.6980C>G (n.6980C>G)
c.64+848C>G
n.258C>G
c.6835C>G (p.Pro2279Ala)
c.6811C>G (p.Pro2271Ala)
c.6871C>G (p.Pro2291Ala)
 dbSNP
17g.31338728C>TCA399014292NF1c.6826C>T (p.Pro2276Ser)
c.1408C>T (p.Pro470Ser)
n.2666C>T
c.1000C>T (p.Pro334Ser)
n.3489C>T
c.6874C>T (p.Pro2292Ser)
c.6844C>T (p.Pro2282Ser)
c.6781C>T (p.Pro2261Ser)
c.5779C>T (p.Pro1927Ser)
c.227C>T
c.6980C>T (n.6980C>T)
c.64+848C>T
n.258C>T
c.6835C>T (p.Pro2279Ser)
c.6811C>T (p.Pro2271Ser)
c.6871C>T (p.Pro2291Ser)
17g.31338729delCA1139665460NF1c.6827del (p.Pro2276LeufsTer9)
c.1409del (p.Pro470LeufsTer9)
n.2667del
c.1001del (p.Pro334LeufsTer9)
n.3490del
c.6875del (p.Pro2292LeufsTer9)
c.6845del (p.Pro2282LeufsTer9)
c.6782del (p.Pro2261LeufsTer9)
c.5780del (p.Pro1927LeufsTer9)
c.228del
c.6981del (n.6981del)
c.64+849del
n.259del
c.6836del (p.Pro2279LeufsTer9)
c.6812del (p.Pro2271LeufsTer9)
c.6872del (p.Pro2291LeufsTer9)
 ClinVar dbSNP
17g.31338729C>ACA399014295NF1c.6827C>A (p.Pro2276His)
c.1409C>A (p.Pro470His)
n.2667C>A
c.1001C>A (p.Pro334His)
n.3490C>A
c.6875C>A (p.Pro2292His)
c.6845C>A (p.Pro2282His)
c.6782C>A (p.Pro2261His)
c.5780C>A (p.Pro1927His)
c.228C>A
c.6981C>A (n.6981C>A)
c.64+849C>A
n.259C>A
c.6836C>A (p.Pro2279His)
c.6812C>A (p.Pro2271His)
c.6872C>A (p.Pro2291His)
17g.31338729C=CA2255603125NF1c.6827C= (p.Pro2276=)
c.1409C= (p.Pro470=)
n.2667C=
c.1001C= (p.Pro334=)
n.3490C=
c.6875C= (p.Pro2292=)
c.6845C= (p.Pro2282=)
c.6782C= (p.Pro2261=)
c.5780C= (p.Pro1927=)
c.228C=
c.6981C= (n.6981C=)
c.64+849C=
n.259C=
c.6836C= (p.Pro2279=)
c.6812C= (p.Pro2271=)
c.6872C= (p.Pro2291=)
17g.31338729C>GCA399014296NF1c.6827C>G (p.Pro2276Arg)
c.1409C>G (p.Pro470Arg)
n.2667C>G
c.1001C>G (p.Pro334Arg)
n.3490C>G
c.6875C>G (p.Pro2292Arg)
c.6845C>G (p.Pro2282Arg)
c.6782C>G (p.Pro2261Arg)
c.5780C>G (p.Pro1927Arg)
c.228C>G
c.6981C>G (n.6981C>G)
c.64+849C>G
n.259C>G
c.6836C>G (p.Pro2279Arg)
c.6812C>G (p.Pro2271Arg)
c.6872C>G (p.Pro2291Arg)
 ClinVar dbSNP
17g.31338729C>TCA399014297NF1c.6827C>T (p.Pro2276Leu)
c.1409C>T (p.Pro470Leu)
n.2667C>T
c.1001C>T (p.Pro334Leu)
n.3490C>T
c.6875C>T (p.Pro2292Leu)
c.6845C>T (p.Pro2282Leu)
c.6782C>T (p.Pro2261Leu)
c.5780C>T (p.Pro1927Leu)
c.228C>T
c.6981C>T (n.6981C>T)
c.64+849C>T
n.259C>T
c.6836C>T (p.Pro2279Leu)
c.6812C>T (p.Pro2271Leu)
c.6872C>T (p.Pro2291Leu)
 ClinVar dbSNP gnomAD v4
17g.31338730T>ACA499234333NF1c.6828T>A (p.Pro2276=)
c.1410T>A (p.Pro470=)
n.2668T>A
c.1002T>A (p.Pro334=)
n.3491T>A
c.6876T>A (p.Pro2292=)
c.6846T>A (p.Pro2282=)
c.6783T>A (p.Pro2261=)
c.5781T>A (p.Pro1927=)
c.229T>A
c.6982T>A (n.6982T>A)
c.64+850T>A
n.260T>A
c.6837T>A (p.Pro2279=)
c.6813T>A (p.Pro2271=)
c.6873T>A (p.Pro2291=)
 dbSNP
17g.31338730T>CCA499234334NF1c.6828T>C (p.Pro2276=)
c.1410T>C (p.Pro470=)
n.2668T>C
c.1002T>C (p.Pro334=)
n.3491T>C
c.6876T>C (p.Pro2292=)
c.6846T>C (p.Pro2282=)
c.6783T>C (p.Pro2261=)
c.5781T>C (p.Pro1927=)
c.229T>C
c.6982T>C (n.6982T>C)
c.64+850T>C
n.260T>C
c.6837T>C (p.Pro2279=)
c.6813T>C (p.Pro2271=)
c.6873T>C (p.Pro2291=)
 dbSNP
17g.31338730T>GCA499234335NF1c.6828T>G (p.Pro2276=)
c.1410T>G (p.Pro470=)
n.2668T>G
c.1002T>G (p.Pro334=)
n.3491T>G
c.6876T>G (p.Pro2292=)
c.6846T>G (p.Pro2282=)
c.6783T>G (p.Pro2261=)
c.5781T>G (p.Pro1927=)
c.229T>G
c.6982T>G (n.6982T>G)
c.64+850T>G
n.260T>G
c.6837T>G (p.Pro2279=)
c.6813T>G (p.Pro2271=)
c.6873T>G (p.Pro2291=)
17g.31338730T=CA2255603126NF1c.6828T= (p.Pro2276=)
c.1410T= (p.Pro470=)
n.2668T=
c.1002T= (p.Pro334=)
n.3491T=
c.6876T= (p.Pro2292=)
c.6846T= (p.Pro2282=)
c.6783T= (p.Pro2261=)
c.5781T= (p.Pro1927=)
c.229T=
c.6982T= (n.6982T=)
c.64+850T=
n.260T=
c.6837T= (p.Pro2279=)
c.6813T= (p.Pro2271=)
c.6873T= (p.Pro2291=)
17g.31338731G>ACA399014298NF1c.6829G>A (p.Asp2277Asn)
c.1411G>A (p.Asp471Asn)
n.2669G>A
c.1003G>A (p.Asp335Asn)
n.3492G>A
c.6877G>A (p.Asp2293Asn)
c.6847G>A (p.Asp2283Asn)
c.6784G>A (p.Asp2262Asn)
c.5782G>A (p.Asp1928Asn)
c.230G>A
c.6983G>A (n.6983G>A)
c.64+851G>A
n.261G>A
c.6838G>A (p.Asp2280Asn)
c.6814G>A (p.Asp2272Asn)
c.6874G>A (p.Asp2292Asn)
 dbSNP
17g.31338731G>CCA399014299NF1c.6829G>C (p.Asp2277His)
c.1411G>C (p.Asp471His)
n.2669G>C
c.1003G>C (p.Asp335His)
n.3492G>C
c.6877G>C (p.Asp2293His)
c.6847G>C (p.Asp2283His)
c.6784G>C (p.Asp2262His)
c.5782G>C (p.Asp1928His)
c.230G>C
c.6983G>C (n.6983G>C)
c.64+851G>C
n.261G>C
c.6838G>C (p.Asp2280His)
c.6814G>C (p.Asp2272His)
c.6874G>C (p.Asp2292His)
 dbSNP
17g.31338731G>TCA399014300NF1c.6829G>T (p.Asp2277Tyr)
c.1411G>T (p.Asp471Tyr)
n.2669G>T
c.1003G>T (p.Asp335Tyr)
n.3492G>T
c.6877G>T (p.Asp2293Tyr)
c.6847G>T (p.Asp2283Tyr)
c.6784G>T (p.Asp2262Tyr)
c.5782G>T (p.Asp1928Tyr)
c.230G>T
c.6983G>T (n.6983G>T)
c.64+851G>T
n.261G>T
c.6838G>T (p.Asp2280Tyr)
c.6814G>T (p.Asp2272Tyr)
c.6874G>T (p.Asp2292Tyr)
17g.31338731dupCA1139665461NF1c.6829dup (p.Asp2277GlyfsTer24)
c.1411dup (p.Asp471GlyfsTer24)
n.2669dup
c.1003dup (p.Asp335GlyfsTer24)
n.3492dup
c.6877dup (p.Asp2293GlyfsTer24)
c.6847dup (p.Asp2283GlyfsTer24)
c.6784dup (p.Asp2262GlyfsTer24)
c.5782dup (p.Asp1928GlyfsTer24)
c.230dup
c.6983dup (n.6983dup)
c.64+851dup
n.261dup
c.6838dup (p.Asp2280GlyfsTer24)
c.6814dup (p.Asp2272GlyfsTer24)
c.6874dup (p.Asp2292GlyfsTer24)
 ClinVar dbSNP
17g.31338732A>CCA399014301NF1c.6830A>C (p.Asp2277Ala)
c.1412A>C (p.Asp471Ala)
n.2670A>C
c.1004A>C (p.Asp335Ala)
n.3493A>C
c.6878A>C (p.Asp2293Ala)
c.6848A>C (p.Asp2283Ala)
c.6785A>C (p.Asp2262Ala)
c.5783A>C (p.Asp1928Ala)
c.231A>C
c.6984A>C (n.6984A>C)
c.64+852A>C
n.262A>C
c.6839A>C (p.Asp2280Ala)
c.6815A>C (p.Asp2272Ala)
c.6875A>C (p.Asp2292Ala)
17g.31338732A>GCA399014302NF1c.6830A>G (p.Asp2277Gly)
c.1412A>G (p.Asp471Gly)
n.2670A>G
c.1004A>G (p.Asp335Gly)
n.3493A>G
c.6878A>G (p.Asp2293Gly)
c.6848A>G (p.Asp2283Gly)
c.6785A>G (p.Asp2262Gly)
c.5783A>G (p.Asp1928Gly)
c.231A>G
c.6984A>G (n.6984A>G)
c.64+852A>G
n.262A>G
c.6839A>G (p.Asp2280Gly)
c.6815A>G (p.Asp2272Gly)
c.6875A>G (p.Asp2292Gly)
 dbSNP
17g.31338732A>TCA399014303NF1c.6830A>T (p.Asp2277Val)
c.1412A>T (p.Asp471Val)
n.2670A>T
c.1004A>T (p.Asp335Val)
n.3493A>T
c.6878A>T (p.Asp2293Val)
c.6848A>T (p.Asp2283Val)
c.6785A>T (p.Asp2262Val)
c.5783A>T (p.Asp1928Val)
c.231A>T
c.6984A>T (n.6984A>T)
c.64+852A>T
n.262A>T
c.6839A>T (p.Asp2280Val)
c.6815A>T (p.Asp2272Val)
c.6875A>T (p.Asp2292Val)
 dbSNP
17g.31338733C>ACA399014304NF1c.6831C>A (p.Asp2277Glu)
c.1413C>A (p.Asp471Glu)
n.2671C>A
c.1005C>A (p.Asp335Glu)
n.3494C>A
c.6879C>A (p.Asp2293Glu)
c.6849C>A (p.Asp2283Glu)
c.6786C>A (p.Asp2262Glu)
c.5784C>A (p.Asp1928Glu)
c.232C>A
c.6985C>A (n.6985C>A)
c.64+853C>A
n.263C>A
c.6840C>A (p.Asp2280Glu)
c.6816C>A (p.Asp2272Glu)
c.6876C>A (p.Asp2292Glu)
17g.31338733C=CA2255603128NF1c.6831C= (p.Asp2277=)
c.1413C= (p.Asp471=)
n.2671C=
c.1005C= (p.Asp335=)
n.3494C=
c.6879C= (p.Asp2293=)
c.6849C= (p.Asp2283=)
c.6786C= (p.Asp2262=)
c.5784C= (p.Asp1928=)
c.232C=
c.6985C= (n.6985C=)
c.64+853C=
n.263C=
c.6840C= (p.Asp2280=)
c.6816C= (p.Asp2272=)
c.6876C= (p.Asp2292=)
17g.31338733C>GCA399014305NF1c.6831C>G (p.Asp2277Glu)
c.1413C>G (p.Asp471Glu)
n.2671C>G
c.1005C>G (p.Asp335Glu)
n.3494C>G
c.6879C>G (p.Asp2293Glu)
c.6849C>G (p.Asp2283Glu)
c.6786C>G (p.Asp2262Glu)
c.5784C>G (p.Asp1928Glu)
c.232C>G
c.6985C>G (n.6985C>G)
c.64+853C>G
n.263C>G
c.6840C>G (p.Asp2280Glu)
c.6816C>G (p.Asp2272Glu)
c.6876C>G (p.Asp2292Glu)
 dbSNP
17g.31338733C>TCA499234336NF1c.6831C>T (p.Asp2277=)
c.1413C>T (p.Asp471=)
n.2671C>T
c.1005C>T (p.Asp335=)
n.3494C>T
c.6879C>T (p.Asp2293=)
c.6849C>T (p.Asp2283=)
c.6786C>T (p.Asp2262=)
c.5784C>T (p.Asp1928=)
c.232C>T
c.6985C>T (n.6985C>T)
c.64+853C>T
n.263C>T
c.6840C>T (p.Asp2280=)
c.6816C>T (p.Asp2272=)
c.6876C>T (p.Asp2292=)
 ClinVar dbSNP
17g.31338733_31338737delinsCACTTCA2255603127NF1c.6831_6835delinsCACTT (p.Asp2277=)
c.1413_1417delinsCACTT (p.Asp471=)
n.2671_2675delinsCACTT
c.1005_1009delinsCACTT (p.Asp335=)
n.3494_3498delinsCACTT
c.6879_6883delinsCACTT (p.Asp2293=)
c.6849_6853delinsCACTT (p.Asp2283=)
c.6786_6790delinsCACTT (p.Asp2262=)
c.5784_5788delinsCACTT (p.Asp1928=)
c.232_236delinsCACTT
c.6985_6989delinsCACTT (n.6985_6989delinsCACTT)
c.64+853_64+857delinsCACTT
n.263_267delinsCACTT
c.6840_6844delinsCACTT (p.Asp2280=)
c.6816_6820delinsCACTT (p.Asp2272=)
c.6876_6880delinsCACTT (p.Asp2292=)
17g.31338733_31338754delCA2695225181NF1c.6831_6852del (p.Asp2277GlufsTer2)
c.1413_1434del (p.Asp471GlufsTer2)
n.2671_2692del
c.1005_1026del (p.Asp335GlufsTer2)
n.3494_3515del
c.6879_6900del (p.Asp2293GlufsTer2)
c.6849_6870del (p.Asp2283GlufsTer2)
c.6786_6807del (p.Asp2262GlufsTer2)
c.5784_5805del (p.Asp1928GlufsTer2)
c.232_253del
c.6985_7006del (n.6985_7006del)
c.64+853_64+874del
n.263_284del
c.6840_6861del (p.Asp2280GlufsTer2)
c.6816_6837del (p.Asp2272GlufsTer2)
c.6876_6897del (p.Asp2292GlufsTer2)
17g.31338734A=CA2255603129NF1c.6832A= (p.Thr2278=)
c.1414A= (p.Thr472=)
n.2672A=
c.1006A= (p.Thr336=)
n.3495A=
c.6880A= (p.Thr2294=)
c.6850A= (p.Thr2284=)
c.6787A= (p.Thr2263=)
c.5785A= (p.Thr1929=)
c.233A=
c.6986A= (n.6986A=)
c.64+854A=
n.264A=
c.6841A= (p.Thr2281=)
c.6817A= (p.Thr2273=)
c.6877A= (p.Thr2293=)
17g.31338734A>CCA399014307NF1c.6832A>C (p.Thr2278Pro)
c.1414A>C (p.Thr472Pro)
n.2672A>C
c.1006A>C (p.Thr336Pro)
n.3495A>C
c.6880A>C (p.Thr2294Pro)
c.6850A>C (p.Thr2284Pro)
c.6787A>C (p.Thr2263Pro)
c.5785A>C (p.Thr1929Pro)
c.233A>C
c.6986A>C (n.6986A>C)
c.64+854A>C
n.264A>C
c.6841A>C (p.Thr2281Pro)
c.6817A>C (p.Thr2273Pro)
c.6877A>C (p.Thr2293Pro)
 dbSNP
17g.31338734A>GCA399014308NF1c.6832A>G (p.Thr2278Ala)
c.1414A>G (p.Thr472Ala)
n.2672A>G
c.1006A>G (p.Thr336Ala)
n.3495A>G
c.6880A>G (p.Thr2294Ala)
c.6850A>G (p.Thr2284Ala)
c.6787A>G (p.Thr2263Ala)
c.5785A>G (p.Thr1929Ala)
c.233A>G
c.6986A>G (n.6986A>G)
c.64+854A>G
n.264A>G
c.6841A>G (p.Thr2281Ala)
c.6817A>G (p.Thr2273Ala)
c.6877A>G (p.Thr2293Ala)
 ClinVar dbSNP
17g.31338734A>TCA399014306NF1c.6832A>T (p.Thr2278Ser)
c.1414A>T (p.Thr472Ser)
n.2672A>T
c.1006A>T (p.Thr336Ser)
n.3495A>T
c.6880A>T (p.Thr2294Ser)
c.6850A>T (p.Thr2284Ser)
c.6787A>T (p.Thr2263Ser)
c.5785A>T (p.Thr1929Ser)
c.233A>T
c.6986A>T (n.6986A>T)
c.64+854A>T
n.264A>T
c.6841A>T (p.Thr2281Ser)
c.6817A>T (p.Thr2273Ser)
c.6877A>T (p.Thr2293Ser)
 dbSNP
17g.31338736_31338739delCA336456NF1c.6834_6837del (p.Tyr2279ThrfsTer5)
c.1416_1419del (p.Tyr473ThrfsTer5)
n.2674_2677del
c.1008_1011del (p.Tyr337ThrfsTer5)
n.3497_3500del
c.6882_6885del (p.Tyr2295ThrfsTer5)
c.6852_6855del (p.Tyr2285ThrfsTer5)
c.6789_6792del (p.Tyr2264ThrfsTer5)
c.5787_5790del (p.Tyr1930ThrfsTer5)
c.235_238del
c.6988_6991del (n.6988_6991del)
c.64+856_64+859del
n.266_269del
c.6843_6846del (p.Tyr2282ThrfsTer5)
c.6819_6822del (p.Tyr2274ThrfsTer5)
c.6879_6882del (p.Tyr2294ThrfsTer5)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
17g.31338735C>ACA399014309NF1c.6833C>A (p.Thr2278Asn)
c.1415C>A (p.Thr472Asn)
n.2673C>A
c.1007C>A (p.Thr336Asn)
n.3496C>A
c.6881C>A (p.Thr2294Asn)
c.6851C>A (p.Thr2284Asn)
c.6788C>A (p.Thr2263Asn)
c.5786C>A (p.Thr1929Asn)
c.234C>A
c.6987C>A (n.6987C>A)
c.64+855C>A
n.265C>A
c.6842C>A (p.Thr2281Asn)
c.6818C>A (p.Thr2273Asn)
c.6878C>A (p.Thr2293Asn)
 gnomAD v4
17g.31338735C=CA2255603130NF1c.6833C= (p.Thr2278=)
c.1415C= (p.Thr472=)
n.2673C=
c.1007C= (p.Thr336=)
n.3496C=
c.6881C= (p.Thr2294=)
c.6851C= (p.Thr2284=)
c.6788C= (p.Thr2263=)
c.5786C= (p.Thr1929=)
c.234C=
c.6987C= (n.6987C=)
c.64+855C=
n.265C=
c.6842C= (p.Thr2281=)
c.6818C= (p.Thr2273=)
c.6878C= (p.Thr2293=)
17g.31338735C>GCA399014310NF1c.6833C>G (p.Thr2278Ser)
c.1415C>G (p.Thr472Ser)
n.2673C>G
c.1007C>G (p.Thr336Ser)
n.3496C>G
c.6881C>G (p.Thr2294Ser)
c.6851C>G (p.Thr2284Ser)
c.6788C>G (p.Thr2263Ser)
c.5786C>G (p.Thr1929Ser)
c.234C>G
c.6987C>G (n.6987C>G)
c.64+855C>G
n.265C>G
c.6842C>G (p.Thr2281Ser)
c.6818C>G (p.Thr2273Ser)
c.6878C>G (p.Thr2293Ser)
17g.31338735C>TCA8487441NF1c.6833C>T (p.Thr2278Ile)
c.1415C>T (p.Thr472Ile)
n.2673C>T
c.1007C>T (p.Thr336Ile)
n.3496C>T
c.6881C>T (p.Thr2294Ile)
c.6851C>T (p.Thr2284Ile)
c.6788C>T (p.Thr2263Ile)
c.5786C>T (p.Thr1929Ile)
c.234C>T
c.6987C>T (n.6987C>T)
c.64+855C>T
n.265C>T
c.6842C>T (p.Thr2281Ile)
c.6818C>T (p.Thr2273Ile)
c.6878C>T (p.Thr2293Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338737_31338753delCA645572249NF1c.6835_6851del (p.Tyr2279AspfsTer16)
c.1417_1433del (p.Tyr473AspfsTer16)
n.2675_2691del
c.1009_1025del (p.Tyr337AspfsTer16)
n.3498_3514del
c.6883_6899del (p.Tyr2295AspfsTer16)
c.6853_6869del (p.Tyr2285AspfsTer16)
c.6790_6806del (p.Tyr2264AspfsTer16)
c.5788_5804del (p.Tyr1930AspfsTer16)
c.236_252del
c.6989_7005del (n.6989_7005del)
c.64+857_64+873del
n.267_283del
c.6844_6860del (p.Tyr2282AspfsTer16)
c.6820_6836del (p.Tyr2274AspfsTer16)
c.6880_6896del (p.Tyr2294AspfsTer16)
 COSMIC
17g.31338736T>ACA499234337NF1c.6834T>A (p.Thr2278=)
c.1416T>A (p.Thr472=)
n.2674T>A
c.1008T>A (p.Thr336=)
n.3497T>A
c.6882T>A (p.Thr2294=)
c.6852T>A (p.Thr2284=)
c.6789T>A (p.Thr2263=)
c.5787T>A (p.Thr1929=)
c.235T>A
c.6988T>A (n.6988T>A)
c.64+856T>A
n.266T>A
c.6843T>A (p.Thr2281=)
c.6819T>A (p.Thr2273=)
c.6879T>A (p.Thr2293=)
 dbSNP
17g.31338736T>CCA499234338NF1c.6834T>C (p.Thr2278=)
c.1416T>C (p.Thr472=)
n.2674T>C
c.1008T>C (p.Thr336=)
n.3497T>C
c.6882T>C (p.Thr2294=)
c.6852T>C (p.Thr2284=)
c.6789T>C (p.Thr2263=)
c.5787T>C (p.Thr1929=)
c.235T>C
c.6988T>C (n.6988T>C)
c.64+856T>C
n.266T>C
c.6843T>C (p.Thr2281=)
c.6819T>C (p.Thr2273=)
c.6879T>C (p.Thr2293=)
 dbSNP
17g.31338736T>GCA499234339NF1c.6834T>G (p.Thr2278=)
c.1416T>G (p.Thr472=)
n.2674T>G
c.1008T>G (p.Thr336=)
n.3497T>G
c.6882T>G (p.Thr2294=)
c.6852T>G (p.Thr2284=)
c.6789T>G (p.Thr2263=)
c.5787T>G (p.Thr1929=)
c.235T>G
c.6988T>G (n.6988T>G)
c.64+856T>G
n.266T>G
c.6843T>G (p.Thr2281=)
c.6819T>G (p.Thr2273=)
c.6879T>G (p.Thr2293=)
17g.31338736_31338737delCA2697559623NF1c.6834_6835del (p.Tyr2279GlnfsTer21)
c.1416_1417del (p.Tyr473GlnfsTer21)
n.2674_2675del
c.1008_1009del (p.Tyr337GlnfsTer21)
n.3497_3498del
c.6882_6883del (p.Tyr2295GlnfsTer21)
c.6852_6853del (p.Tyr2285GlnfsTer21)
c.6789_6790del (p.Tyr2264GlnfsTer21)
c.5787_5788del (p.Tyr1930GlnfsTer21)
c.235_236del
c.6988_6989del (n.6988_6989del)
c.64+856_64+857del
n.266_267del
c.6843_6844del (p.Tyr2282GlnfsTer21)
c.6819_6820del (p.Tyr2274GlnfsTer21)
c.6879_6880del (p.Tyr2294GlnfsTer21)
 ClinVar
17g.31338737dupCA2695225182NF1c.6835dup (p.Tyr2279LeufsTer22)
c.1417dup (p.Tyr473LeufsTer22)
n.2675dup
c.1009dup (p.Tyr337LeufsTer22)
n.3498dup
c.6883dup (p.Tyr2295LeufsTer22)
c.6853dup (p.Tyr2285LeufsTer22)
c.6790dup (p.Tyr2264LeufsTer22)
c.5788dup (p.Tyr1930LeufsTer22)
c.236dup
c.6989dup (n.6989dup)
c.64+857dup
n.267dup
c.6844dup (p.Tyr2282LeufsTer22)
c.6820dup (p.Tyr2274LeufsTer22)
c.6880dup (p.Tyr2294LeufsTer22)
17g.31338736_31338737dupCA2573153877NF1c.6834_6835dup (p.Tyr2279PhefsTer7)
c.1416_1417dup (p.Tyr473PhefsTer7)
n.2674_2675dup
c.1008_1009dup (p.Tyr337PhefsTer7)
n.3497_3498dup
c.6882_6883dup (p.Tyr2295PhefsTer7)
c.6852_6853dup (p.Tyr2285PhefsTer7)
c.6789_6790dup (p.Tyr2264PhefsTer7)
c.5787_5788dup (p.Tyr1930PhefsTer7)
c.235_236dup
c.6988_6989dup (n.6988_6989dup)
c.64+856_64+857dup
n.266_267dup
c.6843_6844dup (p.Tyr2282PhefsTer7)
c.6819_6820dup (p.Tyr2274PhefsTer7)
c.6879_6880dup (p.Tyr2294PhefsTer7)
 ClinVar dbSNP
17g.31338737delCA499234340NF1c.6835del (p.Tyr2279ThrfsTer6)
c.1417del (p.Tyr473ThrfsTer6)
n.2675del
c.1009del (p.Tyr337ThrfsTer6)
n.3498del
c.6883del (p.Tyr2295ThrfsTer6)
c.6853del (p.Tyr2285ThrfsTer6)
c.6790del (p.Tyr2264ThrfsTer6)
c.5788del (p.Tyr1930ThrfsTer6)
c.236del
c.6989del (n.6989del)
c.64+857del
n.267del
c.6844del (p.Tyr2282ThrfsTer6)
c.6820del (p.Tyr2274ThrfsTer6)
c.6880del (p.Tyr2294ThrfsTer6)
 dbSNP COSMIC COSMIC
17g.31338737T>ACA399014311NF1c.6835T>A (p.Tyr2279Asn)
c.1417T>A (p.Tyr473Asn)
n.2675T>A
c.1009T>A (p.Tyr337Asn)
n.3498T>A
c.6883T>A (p.Tyr2295Asn)
c.6853T>A (p.Tyr2285Asn)
c.6790T>A (p.Tyr2264Asn)
c.5788T>A (p.Tyr1930Asn)
c.236T>A
c.6989T>A (n.6989T>A)
c.64+857T>A
n.267T>A
c.6844T>A (p.Tyr2282Asn)
c.6820T>A (p.Tyr2274Asn)
c.6880T>A (p.Tyr2294Asn)
 gnomAD v4
17g.31338737T>CCA399014312NF1c.6835T>C (p.Tyr2279His)
c.1417T>C (p.Tyr473His)
n.2675T>C
c.1009T>C (p.Tyr337His)
n.3498T>C
c.6883T>C (p.Tyr2295His)
c.6853T>C (p.Tyr2285His)
c.6790T>C (p.Tyr2264His)
c.5788T>C (p.Tyr1930His)
c.236T>C
c.6989T>C (n.6989T>C)
c.64+857T>C
n.267T>C
c.6844T>C (p.Tyr2282His)
c.6820T>C (p.Tyr2274His)
c.6880T>C (p.Tyr2294His)
 ClinVar gnomAD v4 COSMIC COSMIC
17g.31338737T>GCA399014313NF1c.6835T>G (p.Tyr2279Asp)
c.1417T>G (p.Tyr473Asp)
n.2675T>G
c.1009T>G (p.Tyr337Asp)
n.3498T>G
c.6883T>G (p.Tyr2295Asp)
c.6853T>G (p.Tyr2285Asp)
c.6790T>G (p.Tyr2264Asp)
c.5788T>G (p.Tyr1930Asp)
c.236T>G
c.6989T>G (n.6989T>G)
c.64+857T>G
n.267T>G
c.6844T>G (p.Tyr2282Asp)
c.6820T>G (p.Tyr2274Asp)
c.6880T>G (p.Tyr2294Asp)
17g.31338737T=CA2255603131NF1c.6835T= (p.Tyr2279=)
c.1417T= (p.Tyr473=)
n.2675T=
c.1009T= (p.Tyr337=)
n.3498T=
c.6883T= (p.Tyr2295=)
c.6853T= (p.Tyr2285=)
c.6790T= (p.Tyr2264=)
c.5788T= (p.Tyr1930=)
c.236T=
c.6989T= (n.6989T=)
c.64+857T=
n.267T=
c.6844T= (p.Tyr2282=)
c.6820T= (p.Tyr2274=)
c.6880T= (p.Tyr2294=)
17g.31338738A=CA2255603132NF1c.6836A= (p.Tyr2279=)
c.1418A= (p.Tyr473=)
n.2676A=
c.1010A= (p.Tyr337=)
n.3499A=
c.6884A= (p.Tyr2295=)
c.6854A= (p.Tyr2285=)
c.6791A= (p.Tyr2264=)
c.5789A= (p.Tyr1930=)
c.237A=
c.6990A= (n.6990A=)
c.64+858A=
n.268A=
c.6845A= (p.Tyr2282=)
c.6821A= (p.Tyr2274=)
c.6881A= (p.Tyr2294=)
17g.31338738A>CCA399014314NF1c.6836A>C (p.Tyr2279Ser)
c.1418A>C (p.Tyr473Ser)
n.2676A>C
c.1010A>C (p.Tyr337Ser)
n.3499A>C
c.6884A>C (p.Tyr2295Ser)
c.6854A>C (p.Tyr2285Ser)
c.6791A>C (p.Tyr2264Ser)
c.5789A>C (p.Tyr1930Ser)
c.237A>C
c.6990A>C (n.6990A>C)
c.64+858A>C
n.268A>C
c.6845A>C (p.Tyr2282Ser)
c.6821A>C (p.Tyr2274Ser)
c.6881A>C (p.Tyr2294Ser)
 gnomAD v4
17g.31338738A>GCA399014315NF1c.6836A>G (p.Tyr2279Cys)
c.1418A>G (p.Tyr473Cys)
n.2676A>G
c.1010A>G (p.Tyr337Cys)
n.3499A>G
c.6884A>G (p.Tyr2295Cys)
c.6854A>G (p.Tyr2285Cys)
c.6791A>G (p.Tyr2264Cys)
c.5789A>G (p.Tyr1930Cys)
c.237A>G
c.6990A>G (n.6990A>G)
c.64+858A>G
n.268A>G
c.6845A>G (p.Tyr2282Cys)
c.6821A>G (p.Tyr2274Cys)
c.6881A>G (p.Tyr2294Cys)
 dbSNP
17g.31338738A>TCA399014316NF1c.6836A>T (p.Tyr2279Phe)
c.1418A>T (p.Tyr473Phe)
n.2676A>T
c.1010A>T (p.Tyr337Phe)
n.3499A>T
c.6884A>T (p.Tyr2295Phe)
c.6854A>T (p.Tyr2285Phe)
c.6791A>T (p.Tyr2264Phe)
c.5789A>T (p.Tyr1930Phe)
c.237A>T
c.6990A>T (n.6990A>T)
c.64+858A>T
n.268A>T
c.6845A>T (p.Tyr2282Phe)
c.6821A>T (p.Tyr2274Phe)
c.6881A>T (p.Tyr2294Phe)
 dbSNP
17g.31338738_31338739insAACA658760996NF1c.6836_6837insAA (p.Tyr2279Ter)
c.1418_1419insAA (p.Tyr473Ter)
n.2676_2677insAA
c.1010_1011insAA (p.Tyr337Ter)
n.3499_3500insAA
c.6884_6885insAA (p.Tyr2295Ter)
c.6854_6855insAA (p.Tyr2285Ter)
c.6791_6792insAA (p.Tyr2264Ter)
c.5789_5790insAA (p.Tyr1930Ter)
c.237_238insAA
c.6990_6991insAA (n.6990_6991insAA)
c.64+858_64+859insAA
n.268_269insAA
c.6845_6846insAA (p.Tyr2282Ter)
c.6821_6822insAA (p.Tyr2274Ter)
c.6881_6882insAA (p.Tyr2294Ter)
 ClinVar
17g.31338738_31338739insTGACA2580093162NF1c.6836_6837insTGA (p.Tyr2279_Asn2280insAsp)
c.1418_1419insTGA (p.Tyr473_Asn474insAsp)
n.2676_2677insTGA
c.1010_1011insTGA (p.Tyr337_Asn338insAsp)
n.3499_3500insTGA
c.6884_6885insTGA (p.Tyr2295_Asn2296insAsp)
c.6854_6855insTGA (p.Tyr2285_Asn2286insAsp)
c.6791_6792insTGA (p.Tyr2264_Asn2265insAsp)
c.5789_5790insTGA (p.Tyr1930_Asn1931insAsp)
c.237_238insTGA
c.6990_6991insTGA (n.6990_6991insTGA)
c.64+858_64+859insTGA
n.268_269insTGA
c.6845_6846insTGA (p.Tyr2282_Asn2283insAsp)
c.6821_6822insTGA (p.Tyr2274_Asn2275insAsp)
c.6881_6882insTGA (p.Tyr2294_Asn2295insAsp)
 ClinVar
17g.31338738dupCA10577038NF1c.6836dup (p.Tyr2279Ter)
c.1418dup (p.Tyr473Ter)
n.2676dup
c.1010dup (p.Tyr337Ter)
n.3499dup
c.6884dup (p.Tyr2295Ter)
c.6854dup (p.Tyr2285Ter)
c.6791dup (p.Tyr2264Ter)
c.5789dup (p.Tyr1930Ter)
c.237dup
c.6990dup (n.6990dup)
c.64+858dup
n.268dup
c.6845dup (p.Tyr2282Ter)
c.6821dup (p.Tyr2274Ter)
c.6881dup (p.Tyr2294Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31338738_31338739delinsACCA2255603133NF1c.6836_6837delinsAC (p.Tyr2279=)
c.1418_1419delinsAC (p.Tyr473=)
n.2676_2677delinsAC
c.1010_1011delinsAC (p.Tyr337=)
n.3499_3500delinsAC
c.6884_6885delinsAC (p.Tyr2295=)
c.6854_6855delinsAC (p.Tyr2285=)
c.6791_6792delinsAC (p.Tyr2264=)
c.5789_5790delinsAC (p.Tyr1930=)
c.237_238delinsAC
c.6990_6991delinsAC (n.6990_6991delinsAC)
c.64+858_64+859delinsAC
n.268_269delinsAC
c.6845_6846delinsAC (p.Tyr2282=)
c.6821_6822delinsAC (p.Tyr2274=)
c.6881_6882delinsAC (p.Tyr2294=)
17g.31338741_31338743delCA2580614074NF1c.6839_6841del (p.Asn2280del)
c.1421_1423del (p.Asn474del)
n.2679_2681del
c.1013_1015del (p.Asn338del)
n.3502_3504del
c.6887_6889del (p.Asn2296del)
c.6857_6859del (p.Asn2286del)
c.6794_6796del (p.Asn2265del)
c.5792_5794del (p.Asn1931del)
c.240_242del
c.6993_6995del (n.6993_6995del)
c.64+861_64+863del
n.271_273del
c.6848_6850del (p.Asn2283del)
c.6824_6826del (p.Asn2275del)
c.6884_6886del (p.Asn2295del)
 ClinVar
17g.31338739delCA658658591NF1c.6837del (p.Tyr2279Ter)
c.1419del (p.Tyr473Ter)
n.2677del
c.1011del (p.Tyr337Ter)
n.3500del
c.6885del (p.Tyr2295Ter)
c.6855del (p.Tyr2285Ter)
c.6792del (p.Tyr2264Ter)
c.5790del (p.Tyr1930Ter)
c.238del
c.6991del (n.6991del)
c.64+859del
n.269del
c.6846del (p.Tyr2282Ter)
c.6822del (p.Tyr2274Ter)
c.6882del (p.Tyr2294Ter)
 ClinVar dbSNP
17g.31338739C>ACA190957NF1c.6837C>A (p.Tyr2279Ter)
c.1419C>A (p.Tyr473Ter)
n.2677C>A
c.1011C>A (p.Tyr337Ter)
n.3500C>A
c.6885C>A (p.Tyr2295Ter)
c.6855C>A (p.Tyr2285Ter)
c.6792C>A (p.Tyr2264Ter)
c.5790C>A (p.Tyr1930Ter)
c.238C>A
c.6991C>A (n.6991C>A)
c.64+859C>A
n.269C>A
c.6846C>A (p.Tyr2282Ter)
c.6822C>A (p.Tyr2274Ter)
c.6882C>A (p.Tyr2294Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31338739C=CA2255603134NF1c.6837C= (p.Tyr2279=)
c.1419C= (p.Tyr473=)
n.2677C=
c.1011C= (p.Tyr337=)
n.3500C=
c.6885C= (p.Tyr2295=)
c.6855C= (p.Tyr2285=)
c.6792C= (p.Tyr2264=)
c.5790C= (p.Tyr1930=)
c.238C=
c.6991C= (n.6991C=)
c.64+859C=
n.269C=
c.6846C= (p.Tyr2282=)
c.6822C= (p.Tyr2274=)
c.6882C= (p.Tyr2294=)
17g.31338739C>GCA8487442NF1c.6837C>G (p.Tyr2279Ter)
c.1419C>G (p.Tyr473Ter)
n.2677C>G
c.1011C>G (p.Tyr337Ter)
n.3500C>G
c.6885C>G (p.Tyr2295Ter)
c.6855C>G (p.Tyr2285Ter)
c.6792C>G (p.Tyr2264Ter)
c.5790C>G (p.Tyr1930Ter)
c.238C>G
c.6991C>G (n.6991C>G)
c.64+859C>G
n.269C>G
c.6846C>G (p.Tyr2282Ter)
c.6822C>G (p.Tyr2274Ter)
c.6882C>G (p.Tyr2294Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.31338739C>TCA499234341NF1c.6837C>T (p.Tyr2279=)
c.1419C>T (p.Tyr473=)
n.2677C>T
c.1011C>T (p.Tyr337=)
n.3500C>T
c.6885C>T (p.Tyr2295=)
c.6855C>T (p.Tyr2285=)
c.6792C>T (p.Tyr2264=)
c.5790C>T (p.Tyr1930=)
c.238C>T
c.6991C>T (n.6991C>T)
c.64+859C>T
n.269C>T
c.6846C>T (p.Tyr2282=)
c.6822C>T (p.Tyr2274=)
c.6882C>T (p.Tyr2294=)
 ClinVar dbSNP gnomAD v4
17g.31338739dupCA658824589NF1c.6837dup (p.Asn2280GlnfsTer21)
c.1419dup (p.Asn474GlnfsTer21)
n.2677dup
c.1011dup (p.Asn338GlnfsTer21)
n.3500dup
c.6885dup (p.Asn2296GlnfsTer21)
c.6855dup (p.Asn2286GlnfsTer21)
c.6792dup (p.Asn2265GlnfsTer21)
c.5790dup (p.Asn1931GlnfsTer21)
c.238dup
c.6991dup (n.6991dup)
c.64+859dup
n.269dup
c.6846dup (p.Asn2283GlnfsTer21)
c.6822dup (p.Asn2275GlnfsTer21)
c.6882dup (p.Asn2295GlnfsTer21)
 ClinVar dbSNP
17g.31338740A>CCA399014318NF1c.6838A>C (p.Asn2280His)
c.1420A>C (p.Asn474His)
n.2678A>C
c.1012A>C (p.Asn338His)
n.3501A>C
c.6886A>C (p.Asn2296His)
c.6856A>C (p.Asn2286His)
c.6793A>C (p.Asn2265His)
c.5791A>C (p.Asn1931His)
c.239A>C
c.6992A>C (n.6992A>C)
c.64+860A>C
n.270A>C
c.6847A>C (p.Asn2283His)
c.6823A>C (p.Asn2275His)
c.6883A>C (p.Asn2295His)
 ClinVar
17g.31338740A>GCA399014319NF1c.6838A>G (p.Asn2280Asp)
c.1420A>G (p.Asn474Asp)
n.2678A>G
c.1012A>G (p.Asn338Asp)
n.3501A>G
c.6886A>G (p.Asn2296Asp)
c.6856A>G (p.Asn2286Asp)
c.6793A>G (p.Asn2265Asp)
c.5791A>G (p.Asn1931Asp)
c.239A>G
c.6992A>G (n.6992A>G)
c.64+860A>G
n.270A>G
c.6847A>G (p.Asn2283Asp)
c.6823A>G (p.Asn2275Asp)
c.6883A>G (p.Asn2295Asp)
17g.31338740A>TCA399014317NF1c.6838A>T (p.Asn2280Tyr)
c.1420A>T (p.Asn474Tyr)
n.2678A>T
c.1012A>T (p.Asn338Tyr)
n.3501A>T
c.6886A>T (p.Asn2296Tyr)
c.6856A>T (p.Asn2286Tyr)
c.6793A>T (p.Asn2265Tyr)
c.5791A>T (p.Asn1931Tyr)
c.239A>T
c.6992A>T (n.6992A>T)
c.64+860A>T
n.270A>T
c.6847A>T (p.Asn2283Tyr)
c.6823A>T (p.Asn2275Tyr)
c.6883A>T (p.Asn2295Tyr)
 gnomAD v4
17g.31338741dupCA2695225183NF1c.6839dup (p.Asn2280LysfsTer21)
c.1421dup (p.Asn474LysfsTer21)
n.2679dup
c.1013dup (p.Asn338LysfsTer21)
n.3502dup
c.6887dup (p.Asn2296LysfsTer21)
c.6857dup (p.Asn2286LysfsTer21)
c.6794dup (p.Asn2265LysfsTer21)
c.5792dup (p.Asn1931LysfsTer21)
c.240dup
c.6993dup (n.6993dup)
c.64+861dup
n.271dup
c.6848dup (p.Asn2283LysfsTer21)
c.6824dup (p.Asn2275LysfsTer21)
c.6884dup (p.Asn2295LysfsTer21)
17g.31338740_31338742delinsAACCA2255603135NF1c.6838_6840delinsAAC (p.Asn2280=)
c.1420_1422delinsAAC (p.Asn474=)
n.2678_2680delinsAAC
c.1012_1014delinsAAC (p.Asn338=)
n.3501_3503delinsAAC
c.6886_6888delinsAAC (p.Asn2296=)
c.6856_6858delinsAAC (p.Asn2286=)
c.6793_6795delinsAAC (p.Asn2265=)
c.5791_5793delinsAAC (p.Asn1931=)
c.239_241delinsAAC
c.6992_6994delinsAAC (n.6992_6994delinsAAC)
c.64+860_64+862delinsAAC
n.270_272delinsAAC
c.6847_6849delinsAAC (p.Asn2283=)
c.6823_6825delinsAAC (p.Asn2275=)
c.6883_6885delinsAAC (p.Asn2295=)
17g.31338741A>CCA399014320NF1c.6839A>C (p.Asn2280Thr)
c.1421A>C (p.Asn474Thr)
n.2679A>C
c.1013A>C (p.Asn338Thr)
n.3502A>C
c.6887A>C (p.Asn2296Thr)
c.6857A>C (p.Asn2286Thr)
c.6794A>C (p.Asn2265Thr)
c.5792A>C (p.Asn1931Thr)
c.240A>C
c.6993A>C (n.6993A>C)
c.64+861A>C
n.271A>C
c.6848A>C (p.Asn2283Thr)
c.6824A>C (p.Asn2275Thr)
c.6884A>C (p.Asn2295Thr)
 dbSNP
17g.31338741A>GCA399014321NF1c.6839A>G (p.Asn2280Ser)
c.1421A>G (p.Asn474Ser)
n.2679A>G
c.1013A>G (p.Asn338Ser)
n.3502A>G
c.6887A>G (p.Asn2296Ser)
c.6857A>G (p.Asn2286Ser)
c.6794A>G (p.Asn2265Ser)
c.5792A>G (p.Asn1931Ser)
c.240A>G
c.6993A>G (n.6993A>G)
c.64+861A>G
n.271A>G
c.6848A>G (p.Asn2283Ser)
c.6824A>G (p.Asn2275Ser)
c.6884A>G (p.Asn2295Ser)
 gnomAD v4
17g.31338741A>TCA399014322NF1c.6839A>T (p.Asn2280Ile)
c.1421A>T (p.Asn474Ile)
n.2679A>T
c.1013A>T (p.Asn338Ile)
n.3502A>T
c.6887A>T (p.Asn2296Ile)
c.6857A>T (p.Asn2286Ile)
c.6794A>T (p.Asn2265Ile)
c.5792A>T (p.Asn1931Ile)
c.240A>T
c.6993A>T (n.6993A>T)
c.64+861A>T
n.271A>T
c.6848A>T (p.Asn2283Ile)
c.6824A>T (p.Asn2275Ile)
c.6884A>T (p.Asn2295Ile)
 dbSNP
17g.31338742_31338743delCA658658592NF1c.6840_6841del (p.Asn2280LysfsTer20)
c.1422_1423del (p.Asn474LysfsTer20)
n.2680_2681del
c.1014_1015del (p.Asn338LysfsTer20)
n.3503_3504del
c.6888_6889del (p.Asn2296LysfsTer20)
c.6858_6859del (p.Asn2286LysfsTer20)
c.6795_6796del (p.Asn2265LysfsTer20)
c.5793_5794del (p.Asn1931LysfsTer20)
c.241_242del
c.6994_6995del (n.6994_6995del)
c.64+862_64+863del
n.272_273del
c.6849_6850del (p.Asn2283LysfsTer20)
c.6825_6826del (p.Asn2275LysfsTer20)
c.6885_6886del (p.Asn2295LysfsTer20)
 ClinVar dbSNP
17g.31338742C>ACA399014323NF1c.6840C>A (p.Asn2280Lys)
c.1422C>A (p.Asn474Lys)
n.2680C>A
c.1014C>A (p.Asn338Lys)
n.3503C>A
c.6888C>A (p.Asn2296Lys)
c.6858C>A (p.Asn2286Lys)
c.6795C>A (p.Asn2265Lys)
c.5793C>A (p.Asn1931Lys)
c.241C>A
c.6994C>A (n.6994C>A)
c.64+862C>A
n.272C>A
c.6849C>A (p.Asn2283Lys)
c.6825C>A (p.Asn2275Lys)
c.6885C>A (p.Asn2295Lys)
17g.31338742C=CA2255603136NF1c.6840C= (p.Asn2280=)
c.1422C= (p.Asn474=)
n.2680C=
c.1014C= (p.Asn338=)
n.3503C=
c.6888C= (p.Asn2296=)
c.6858C= (p.Asn2286=)
c.6795C= (p.Asn2265=)
c.5793C= (p.Asn1931=)
c.241C=
c.6994C= (n.6994C=)
c.64+862C=
n.272C=
c.6849C= (p.Asn2283=)
c.6825C= (p.Asn2275=)
c.6885C= (p.Asn2295=)
17g.31338742C>GCA399014324NF1c.6840C>G (p.Asn2280Lys)
c.1422C>G (p.Asn474Lys)
n.2680C>G
c.1014C>G (p.Asn338Lys)
n.3503C>G
c.6888C>G (p.Asn2296Lys)
c.6858C>G (p.Asn2286Lys)
c.6795C>G (p.Asn2265Lys)
c.5793C>G (p.Asn1931Lys)
c.241C>G
c.6994C>G (n.6994C>G)
c.64+862C>G
n.272C>G
c.6849C>G (p.Asn2283Lys)
c.6825C>G (p.Asn2275Lys)
c.6885C>G (p.Asn2295Lys)
 ClinVar dbSNP
17g.31338742C>TCA499234342NF1c.6840C>T (p.Asn2280=)
c.1422C>T (p.Asn474=)
n.2680C>T
c.1014C>T (p.Asn338=)
n.3503C>T
c.6888C>T (p.Asn2296=)
c.6858C>T (p.Asn2286=)
c.6795C>T (p.Asn2265=)
c.5793C>T (p.Asn1931=)
c.241C>T
c.6994C>T (n.6994C>T)
c.64+862C>T
n.272C>T
c.6849C>T (p.Asn2283=)
c.6825C>T (p.Asn2275=)
c.6885C>T (p.Asn2295=)
 ClinVar dbSNP gnomAD v4
17g.31338742dupCA2695225184NF1c.6840dup (p.Ser2281GlnfsTer20)
c.1422dup (p.Ser475GlnfsTer20)
n.2680dup
c.1014dup (p.Ser339GlnfsTer20)
n.3503dup
c.6888dup (p.Ser2297GlnfsTer20)
c.6858dup (p.Ser2287GlnfsTer20)
c.6795dup (p.Ser2266GlnfsTer20)
c.5793dup (p.Ser1932GlnfsTer20)
c.241dup
c.6994dup (n.6994dup)
c.64+862dup
n.272dup
c.6849dup (p.Ser2284GlnfsTer20)
c.6825dup (p.Ser2276GlnfsTer20)
c.6885dup (p.Ser2296GlnfsTer20)
17g.31338742_31338743delinsCACA2255603137NF1c.6840_6841delinsCA (p.Asn2280=)
c.1422_1423delinsCA (p.Asn474=)
n.2680_2681delinsCA
c.1014_1015delinsCA (p.Asn338=)
n.3503_3504delinsCA
c.6888_6889delinsCA (p.Asn2296=)
c.6858_6859delinsCA (p.Asn2286=)
c.6795_6796delinsCA (p.Asn2265=)
c.5793_5794delinsCA (p.Asn1931=)
c.241_242delinsCA
c.6994_6995delinsCA (n.6994_6995delinsCA)
c.64+862_64+863delinsCA
n.272_273delinsCA
c.6849_6850delinsCA (p.Asn2283=)
c.6825_6826delinsCA (p.Asn2275=)
c.6885_6886delinsCA (p.Asn2295=)
17g.31338743delCA728026808NF1c.6841del (p.Ser2281ValfsTer4)
c.1423del (p.Ser475ValfsTer4)
n.2681del
c.1015del (p.Ser339ValfsTer4)
n.3504del
c.6889del (p.Ser2297ValfsTer4)
c.6859del (p.Ser2287ValfsTer4)
c.6796del (p.Ser2266ValfsTer4)
c.5794del (p.Ser1932ValfsTer4)
c.242del
c.6995del (n.6995del)
c.64+863del
n.273del
c.6850del (p.Ser2284ValfsTer4)
c.6826del (p.Ser2276ValfsTer4)
c.6886del (p.Ser2296ValfsTer4)
 dbSNP
17g.31338743A>CCA399014327NF1c.6841A>C (p.Ser2281Arg)
c.1423A>C (p.Ser475Arg)
n.2681A>C
c.1015A>C (p.Ser339Arg)
n.3504A>C
c.6889A>C (p.Ser2297Arg)
c.6859A>C (p.Ser2287Arg)
c.6796A>C (p.Ser2266Arg)
c.5794A>C (p.Ser1932Arg)
c.242A>C
c.6995A>C (n.6995A>C)
c.64+863A>C
n.273A>C
c.6850A>C (p.Ser2284Arg)
c.6826A>C (p.Ser2276Arg)
c.6886A>C (p.Ser2296Arg)
17g.31338743A>GCA399014325NF1c.6841A>G (p.Ser2281Gly)
c.1423A>G (p.Ser475Gly)
n.2681A>G
c.1015A>G (p.Ser339Gly)
n.3504A>G
c.6889A>G (p.Ser2297Gly)
c.6859A>G (p.Ser2287Gly)
c.6796A>G (p.Ser2266Gly)
c.5794A>G (p.Ser1932Gly)
c.242A>G
c.6995A>G (n.6995A>G)
c.64+863A>G
n.273A>G
c.6850A>G (p.Ser2284Gly)
c.6826A>G (p.Ser2276Gly)
c.6886A>G (p.Ser2296Gly)
17g.31338743A>TCA399014326NF1c.6841A>T (p.Ser2281Cys)
c.1423A>T (p.Ser475Cys)
n.2681A>T
c.1015A>T (p.Ser339Cys)
n.3504A>T
c.6889A>T (p.Ser2297Cys)
c.6859A>T (p.Ser2287Cys)
c.6796A>T (p.Ser2266Cys)
c.5794A>T (p.Ser1932Cys)
c.242A>T
c.6995A>T (n.6995A>T)
c.64+863A>T
n.273A>T
c.6850A>T (p.Ser2284Cys)
c.6826A>T (p.Ser2276Cys)
c.6886A>T (p.Ser2296Cys)
17g.31338746_31338750dupCA2255603138NF1c.6844_6848dup (p.Leu2284LysfsTer3)
c.1426_1430dup (p.Leu478LysfsTer3)
n.2684_2688dup
c.1018_1022dup (p.Leu342LysfsTer3)
n.3507_3511dup
c.6892_6896dup (p.Leu2300LysfsTer3)
c.6862_6866dup (p.Leu2290LysfsTer3)
c.6799_6803dup (p.Leu2269LysfsTer3)
c.5797_5801dup (p.Leu1935LysfsTer3)
c.245_249dup
c.6998_7002dup (n.6998_7002dup)
c.64+866_64+870dup
n.276_280dup
c.6853_6857dup (p.Leu2287LysfsTer3)
c.6829_6833dup (p.Leu2279LysfsTer3)
c.6889_6893dup (p.Leu2299LysfsTer3)
 dbSNP
17g.31338746_31338750delCA2592637824NF1c.6844_6848del (p.Gln2282SerfsTer17)
c.1426_1430del (p.Gln476SerfsTer17)
n.2684_2688del
c.1018_1022del (p.Gln340SerfsTer17)
n.3507_3511del
c.6892_6896del (p.Gln2298SerfsTer17)
c.6862_6866del (p.Gln2288SerfsTer17)
c.6799_6803del (p.Gln2267SerfsTer17)
c.5797_5801del (p.Gln1933SerfsTer17)
c.245_249del
c.6998_7002del (n.6998_7002del)
c.64+866_64+870del
n.276_280del
c.6853_6857del (p.Gln2285SerfsTer17)
c.6829_6833del (p.Gln2277SerfsTer17)
c.6889_6893del (p.Gln2297SerfsTer17)
 dbSNP gnomAD v3 gnomAD v4
17g.31338744G>ACA399014328NF1c.6842G>A (p.Ser2281Asn)
c.1424G>A (p.Ser475Asn)
n.2682G>A
c.1016G>A (p.Ser339Asn)
n.3505G>A
c.6890G>A (p.Ser2297Asn)
c.6860G>A (p.Ser2287Asn)
c.6797G>A (p.Ser2266Asn)
c.5795G>A (p.Ser1932Asn)
c.243G>A
c.6996G>A (n.6996G>A)
c.64+864G>A
n.274G>A
c.6851G>A (p.Ser2284Asn)
c.6827G>A (p.Ser2276Asn)
c.6887G>A (p.Ser2296Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.31338744G>CCA399014329NF1c.6842G>C (p.Ser2281Thr)
c.1424G>C (p.Ser475Thr)
n.2682G>C
c.1016G>C (p.Ser339Thr)
n.3505G>C
c.6890G>C (p.Ser2297Thr)
c.6860G>C (p.Ser2287Thr)
c.6797G>C (p.Ser2266Thr)
c.5795G>C (p.Ser1932Thr)
c.243G>C
c.6996G>C (n.6996G>C)
c.64+864G>C
n.274G>C
c.6851G>C (p.Ser2284Thr)
c.6827G>C (p.Ser2276Thr)
c.6887G>C (p.Ser2296Thr)
 dbSNP
17g.31338744G=CA2255603139NF1c.6842G= (p.Ser2281=)
c.1424G= (p.Ser475=)
n.2682G=
c.1016G= (p.Ser339=)
n.3505G=
c.6890G= (p.Ser2297=)
c.6860G= (p.Ser2287=)
c.6797G= (p.Ser2266=)
c.5795G= (p.Ser1932=)
c.243G=
c.6996G= (n.6996G=)
c.64+864G=
n.274G=
c.6851G= (p.Ser2284=)
c.6827G= (p.Ser2276=)
c.6887G= (p.Ser2296=)
17g.31338744G>TCA399014330NF1c.6842G>T (p.Ser2281Ile)
c.1424G>T (p.Ser475Ile)
n.2682G>T
c.1016G>T (p.Ser339Ile)
n.3505G>T
c.6890G>T (p.Ser2297Ile)
c.6860G>T (p.Ser2287Ile)
c.6797G>T (p.Ser2266Ile)
c.5795G>T (p.Ser1932Ile)
c.243G>T
c.6996G>T (n.6996G>T)
c.64+864G>T
n.274G>T
c.6851G>T (p.Ser2284Ile)
c.6827G>T (p.Ser2276Ile)
c.6887G>T (p.Ser2296Ile)
 dbSNP
17g.31338744_31338745delCA2695225185NF1c.6842_6843del (p.Ser2281ThrfsTer19)
c.1424_1425del (p.Ser475ThrfsTer19)
n.2682_2683del
c.1016_1017del (p.Ser339ThrfsTer19)
n.3505_3506del
c.6890_6891del (p.Ser2297ThrfsTer19)
c.6860_6861del (p.Ser2287ThrfsTer19)
c.6797_6798del (p.Ser2266ThrfsTer19)
c.5795_5796del (p.Ser1932ThrfsTer19)
c.243_244del
c.6996_6997del (n.6996_6997del)
c.64+864_64+865del
n.274_275del
c.6851_6852del (p.Ser2284ThrfsTer19)
c.6827_6828del (p.Ser2276ThrfsTer19)
c.6887_6888del (p.Ser2296ThrfsTer19)
17g.31338745T>ACA399014331NF1c.6843T>A (p.Ser2281Arg)
c.1425T>A (p.Ser475Arg)
n.2683T>A
c.1017T>A (p.Ser339Arg)
n.3506T>A
c.6891T>A (p.Ser2297Arg)
c.6861T>A (p.Ser2287Arg)
c.6798T>A (p.Ser2266Arg)
c.5796T>A (p.Ser1932Arg)
c.244T>A
c.6997T>A (n.6997T>A)
c.64+865T>A
n.275T>A
c.6852T>A (p.Ser2284Arg)
c.6828T>A (p.Ser2276Arg)
c.6888T>A (p.Ser2296Arg)
 dbSNP
17g.31338745T>CCA499234343NF1c.6843T>C (p.Ser2281=)
c.1425T>C (p.Ser475=)
n.2683T>C
c.1017T>C (p.Ser339=)
n.3506T>C
c.6891T>C (p.Ser2297=)
c.6861T>C (p.Ser2287=)
c.6798T>C (p.Ser2266=)
c.5796T>C (p.Ser1932=)
c.244T>C
c.6997T>C (n.6997T>C)
c.64+865T>C
n.275T>C
c.6852T>C (p.Ser2284=)
c.6828T>C (p.Ser2276=)
c.6888T>C (p.Ser2296=)
 ClinVar
17g.31338745T>GCA399014332NF1c.6843T>G (p.Ser2281Arg)
c.1425T>G (p.Ser475Arg)
n.2683T>G
c.1017T>G (p.Ser339Arg)
n.3506T>G
c.6891T>G (p.Ser2297Arg)
c.6861T>G (p.Ser2287Arg)
c.6798T>G (p.Ser2266Arg)
c.5796T>G (p.Ser1932Arg)
c.244T>G
c.6997T>G (n.6997T>G)
c.64+865T>G
n.275T>G
c.6852T>G (p.Ser2284Arg)
c.6828T>G (p.Ser2276Arg)
c.6888T>G (p.Ser2296Arg)
 ClinVar dbSNP
17g.31338745T=CA2255603140NF1c.6843T= (p.Ser2281=)
c.1425T= (p.Ser475=)
n.2683T=
c.1017T= (p.Ser339=)
n.3506T=
c.6891T= (p.Ser2297=)
c.6861T= (p.Ser2287=)
c.6798T= (p.Ser2266=)
c.5796T= (p.Ser1932=)
c.244T=
c.6997T= (n.6997T=)
c.64+865T=
n.275T=
c.6852T= (p.Ser2284=)
c.6828T= (p.Ser2276=)
c.6888T= (p.Ser2296=)
17g.31338745_31338748dupCA891844408NF1c.6843_6846dup (p.Val2283SerfsTer19)
c.1425_1428dup (p.Val477SerfsTer19)
n.2683_2686dup
c.1017_1020dup (p.Val341SerfsTer19)
n.3506_3509dup
c.6891_6894dup (p.Val2299SerfsTer19)
c.6861_6864dup (p.Val2289SerfsTer19)
c.6798_6801dup (p.Val2268SerfsTer19)
c.5796_5799dup (p.Val1934SerfsTer19)
c.244_247dup
c.6997_7000dup (n.6997_7000dup)
c.64+865_64+868dup
n.275_278dup
c.6852_6855dup (p.Val2286SerfsTer19)
c.6828_6831dup (p.Val2278SerfsTer19)
c.6888_6891dup (p.Val2298SerfsTer19)
 ClinVar dbSNP
17g.31338746C>ACA399014333NF1c.6844C>A (p.Gln2282Lys)
c.1426C>A (p.Gln476Lys)
n.2684C>A
c.1018C>A (p.Gln340Lys)
n.3507C>A
c.6892C>A (p.Gln2298Lys)
c.6862C>A (p.Gln2288Lys)
c.6799C>A (p.Gln2267Lys)
c.5797C>A (p.Gln1933Lys)
c.245C>A
c.6998C>A (n.6998C>A)
c.64+866C>A
n.276C>A
c.6853C>A (p.Gln2285Lys)
c.6829C>A (p.Gln2277Lys)
c.6889C>A (p.Gln2297Lys)
17g.31338746C>GCA399014335NF1c.6844C>G (p.Gln2282Glu)
c.1426C>G (p.Gln476Glu)
n.2684C>G
c.1018C>G (p.Gln340Glu)
n.3507C>G
c.6892C>G (p.Gln2298Glu)
c.6862C>G (p.Gln2288Glu)
c.6799C>G (p.Gln2267Glu)
c.5797C>G (p.Gln1933Glu)
c.245C>G
c.6998C>G (n.6998C>G)
c.64+866C>G
n.276C>G
c.6853C>G (p.Gln2285Glu)
c.6829C>G (p.Gln2277Glu)
c.6889C>G (p.Gln2297Glu)
 dbSNP
17g.31338746C>TCA399014334NF1c.6844C>T (p.Gln2282Ter)
c.1426C>T (p.Gln476Ter)
n.2684C>T
c.1018C>T (p.Gln340Ter)
n.3507C>T
c.6892C>T (p.Gln2298Ter)
c.6862C>T (p.Gln2288Ter)
c.6799C>T (p.Gln2267Ter)
c.5797C>T (p.Gln1933Ter)
c.245C>T
c.6998C>T (n.6998C>T)
c.64+866C>T
n.276C>T
c.6853C>T (p.Gln2285Ter)
c.6829C>T (p.Gln2277Ter)
c.6889C>T (p.Gln2297Ter)
 ClinVar dbSNP
17g.31338747A>CCA399014336NF1c.6845A>C (p.Gln2282Pro)
c.1427A>C (p.Gln476Pro)
n.2685A>C
c.1019A>C (p.Gln340Pro)
n.3508A>C
c.6893A>C (p.Gln2298Pro)
c.6863A>C (p.Gln2288Pro)
c.6800A>C (p.Gln2267Pro)
c.5798A>C (p.Gln1933Pro)
c.246A>C
c.6999A>C (n.6999A>C)
c.64+867A>C
n.277A>C
c.6854A>C (p.Gln2285Pro)
c.6830A>C (p.Gln2277Pro)
c.6890A>C (p.Gln2297Pro)
17g.31338747A>GCA399014338NF1c.6845A>G (p.Gln2282Arg)
c.1427A>G (p.Gln476Arg)
n.2685A>G
c.1019A>G (p.Gln340Arg)
n.3508A>G
c.6893A>G (p.Gln2298Arg)
c.6863A>G (p.Gln2288Arg)
c.6800A>G (p.Gln2267Arg)
c.5798A>G (p.Gln1933Arg)
c.246A>G
c.6999A>G (n.6999A>G)
c.64+867A>G
n.277A>G
c.6854A>G (p.Gln2285Arg)
c.6830A>G (p.Gln2277Arg)
c.6890A>G (p.Gln2297Arg)
17g.31338747A>TCA399014337NF1c.6845A>T (p.Gln2282Leu)
c.1427A>T (p.Gln476Leu)
n.2685A>T
c.1019A>T (p.Gln340Leu)
n.3508A>T
c.6893A>T (p.Gln2298Leu)
c.6863A>T (p.Gln2288Leu)
c.6800A>T (p.Gln2267Leu)
c.5798A>T (p.Gln1933Leu)
c.246A>T
c.6999A>T (n.6999A>T)
c.64+867A>T
n.277A>T
c.6854A>T (p.Gln2285Leu)
c.6830A>T (p.Gln2277Leu)
c.6890A>T (p.Gln2297Leu)
17g.31338747_31338748delCA645572250NF1c.6845_6846del (p.Gln2282ArgfsTer18)
c.1427_1428del (p.Gln476ArgfsTer18)
n.2685_2686del
c.1019_1020del (p.Gln340ArgfsTer18)
n.3508_3509del
c.6893_6894del (p.Gln2298ArgfsTer18)
c.6863_6864del (p.Gln2288ArgfsTer18)
c.6800_6801del (p.Gln2267ArgfsTer18)
c.5798_5799del (p.Gln1933ArgfsTer18)
c.246_247del
c.6999_7000del (n.6999_7000del)
c.64+867_64+868del
n.277_278del
c.6854_6855del (p.Gln2285ArgfsTer18)
c.6830_6831del (p.Gln2277ArgfsTer18)
c.6890_6891del (p.Gln2297ArgfsTer18)
 COSMIC
17g.31338748A=CA2255603141NF1c.6846A= (p.Gln2282=)
c.1428A= (p.Gln476=)
n.2686A=
c.1020A= (p.Gln340=)
n.3509A=
c.6894A= (p.Gln2298=)
c.6864A= (p.Gln2288=)
c.6801A= (p.Gln2267=)
c.5799A= (p.Gln1933=)
c.247A=
c.7000A= (n.7000A=)
c.64+868A=
n.278A=
c.6855A= (p.Gln2285=)
c.6831A= (p.Gln2277=)
c.6891A= (p.Gln2297=)
17g.31338748A>CCA399014339NF1c.6846A>C (p.Gln2282His)
c.1428A>C (p.Gln476His)
n.2686A>C
c.1020A>C (p.Gln340His)
n.3509A>C
c.6894A>C (p.Gln2298His)
c.6864A>C (p.Gln2288His)
c.6801A>C (p.Gln2267His)
c.5799A>C (p.Gln1933His)
c.247A>C
c.7000A>C (n.7000A>C)
c.64+868A>C
n.278A>C
c.6855A>C (p.Gln2285His)
c.6831A>C (p.Gln2277His)
c.6891A>C (p.Gln2297His)
17g.31338748A>GCA16620374NF1c.6846A>G (p.Gln2282=)
c.1428A>G (p.Gln476=)
n.2686A>G
c.1020A>G (p.Gln340=)
n.3509A>G
c.6894A>G (p.Gln2298=)
c.6864A>G (p.Gln2288=)
c.6801A>G (p.Gln2267=)
c.5799A>G (p.Gln1933=)
c.247A>G
c.7000A>G (n.7000A>G)
c.64+868A>G
n.278A>G
c.6855A>G (p.Gln2285=)
c.6831A>G (p.Gln2277=)
c.6891A>G (p.Gln2297=)
 ClinVar dbSNP gnomAD v4
17g.31338748A>TCA399014340NF1c.6846A>T (p.Gln2282His)
c.1428A>T (p.Gln476His)
n.2686A>T
c.1020A>T (p.Gln340His)
n.3509A>T
c.6894A>T (p.Gln2298His)
c.6864A>T (p.Gln2288His)
c.6801A>T (p.Gln2267His)
c.5799A>T (p.Gln1933His)
c.247A>T
c.7000A>T (n.7000A>T)
c.64+868A>T
n.278A>T
c.6855A>T (p.Gln2285His)
c.6831A>T (p.Gln2277His)
c.6891A>T (p.Gln2297His)
 dbSNP
17g.31338748_31338749delCA2695225186NF1c.6846_6847del (p.Gln2282HisfsTer18)
c.1428_1429del (p.Gln476HisfsTer18)
n.2686_2687del
c.1020_1021del (p.Gln340HisfsTer18)
n.3509_3510del
c.6894_6895del (p.Gln2298HisfsTer18)
c.6864_6865del (p.Gln2288HisfsTer18)
c.6801_6802del (p.Gln2267HisfsTer18)
c.5799_5800del (p.Gln1933HisfsTer18)
c.247_248del
c.7000_7001del (n.7000_7001del)
c.64+868_64+869del
n.278_279del
c.6855_6856del (p.Gln2285HisfsTer18)
c.6831_6832del (p.Gln2277HisfsTer18)
c.6891_6892del (p.Gln2297HisfsTer18)
17g.31338749G>ACA399014341NF1c.6847G>A (p.Val2283Ile)
c.1429G>A (p.Val477Ile)
n.2687G>A
c.1021G>A (p.Val341Ile)
n.3510G>A
c.6895G>A (p.Val2299Ile)
c.6865G>A (p.Val2289Ile)
c.6802G>A (p.Val2268Ile)
c.5800G>A (p.Val1934Ile)
c.248G>A
c.7001G>A (n.7001G>A)
c.64+869G>A
n.279G>A
c.6856G>A (p.Val2286Ile)
c.6832G>A (p.Val2278Ile)
c.6892G>A (p.Val2298Ile)
 dbSNP
17g.31338749G>CCA289388377NF1c.6847G>C (p.Val2283Leu)
c.1429G>C (p.Val477Leu)
n.2687G>C
c.1021G>C (p.Val341Leu)
n.3510G>C
c.6895G>C (p.Val2299Leu)
c.6865G>C (p.Val2289Leu)
c.6802G>C (p.Val2268Leu)
c.5800G>C (p.Val1934Leu)
c.248G>C
c.7001G>C (n.7001G>C)
c.64+869G>C
n.279G>C
c.6856G>C (p.Val2286Leu)
c.6832G>C (p.Val2278Leu)
c.6892G>C (p.Val2298Leu)
 ClinVar dbSNP
17g.31338749G=CA2255603142NF1c.6847G= (p.Val2283=)
c.1429G= (p.Val477=)
n.2687G=
c.1021G= (p.Val341=)
n.3510G=
c.6895G= (p.Val2299=)
c.6865G= (p.Val2289=)
c.6802G= (p.Val2268=)
c.5800G= (p.Val1934=)
c.248G=
c.7001G= (n.7001G=)
c.64+869G=
n.279G=
c.6856G= (p.Val2286=)
c.6832G= (p.Val2278=)
c.6892G= (p.Val2298=)
17g.31338749G>TCA399014342NF1c.6847G>T (p.Val2283Phe)
c.1429G>T (p.Val477Phe)
n.2687G>T
c.1021G>T (p.Val341Phe)
n.3510G>T
c.6895G>T (p.Val2299Phe)
c.6865G>T (p.Val2289Phe)
c.6802G>T (p.Val2268Phe)
c.5800G>T (p.Val1934Phe)
c.248G>T
c.7001G>T (n.7001G>T)
c.64+869G>T
n.279G>T
c.6856G>T (p.Val2286Phe)
c.6832G>T (p.Val2278Phe)
c.6892G>T (p.Val2298Phe)
17g.31338750T>ACA399014343NF1c.6848T>A (p.Val2283Asp)
c.1430T>A (p.Val477Asp)
n.2688T>A
c.1022T>A (p.Val341Asp)
n.3511T>A
c.6896T>A (p.Val2299Asp)
c.6866T>A (p.Val2289Asp)
c.6803T>A (p.Val2268Asp)
c.5801T>A (p.Val1934Asp)
c.249T>A
c.7002T>A (n.7002T>A)
c.64+870T>A
n.280T>A
c.6857T>A (p.Val2286Asp)
c.6833T>A (p.Val2278Asp)
c.6893T>A (p.Val2298Asp)
 dbSNP
17g.31338750T>CCA399014344NF1c.6848T>C (p.Val2283Ala)
c.1430T>C (p.Val477Ala)
n.2688T>C
c.1022T>C (p.Val341Ala)
n.3511T>C
c.6896T>C (p.Val2299Ala)
c.6866T>C (p.Val2289Ala)
c.6803T>C (p.Val2268Ala)
c.5801T>C (p.Val1934Ala)
c.249T>C
c.7002T>C (n.7002T>C)
c.64+870T>C
n.280T>C
c.6857T>C (p.Val2286Ala)
c.6833T>C (p.Val2278Ala)
c.6893T>C (p.Val2298Ala)
 dbSNP
17g.31338750T>GCA399014345NF1c.6848T>G (p.Val2283Gly)
c.1430T>G (p.Val477Gly)
n.2688T>G
c.1022T>G (p.Val341Gly)
n.3511T>G
c.6896T>G (p.Val2299Gly)
c.6866T>G (p.Val2289Gly)
c.6803T>G (p.Val2268Gly)
c.5801T>G (p.Val1934Gly)
c.249T>G
c.7002T>G (n.7002T>G)
c.64+870T>G
n.280T>G
c.6857T>G (p.Val2286Gly)
c.6833T>G (p.Val2278Gly)
c.6893T>G (p.Val2298Gly)
17g.31338751T>ACA499234344NF1c.6849T>A (p.Val2283=)
c.1431T>A (p.Val477=)
n.2689T>A
c.1023T>A (p.Val341=)
n.3512T>A
c.6897T>A (p.Val2299=)
c.6867T>A (p.Val2289=)
c.6804T>A (p.Val2268=)
c.5802T>A (p.Val1934=)
c.250T>A
c.7003T>A (n.7003T>A)
c.64+871T>A
n.281T>A
c.6858T>A (p.Val2286=)
c.6834T>A (p.Val2278=)
c.6894T>A (p.Val2298=)
17g.31338751T>CCA499234345NF1c.6849T>C (p.Val2283=)
c.1431T>C (p.Val477=)
n.2689T>C
c.1023T>C (p.Val341=)
n.3512T>C
c.6897T>C (p.Val2299=)
c.6867T>C (p.Val2289=)
c.6804T>C (p.Val2268=)
c.5802T>C (p.Val1934=)
c.250T>C
c.7003T>C (n.7003T>C)
c.64+871T>C
n.281T>C
c.6858T>C (p.Val2286=)
c.6834T>C (p.Val2278=)
c.6894T>C (p.Val2298=)
 ClinVar dbSNP gnomAD v4
17g.31338751T>GCA499234346NF1c.6849T>G (p.Val2283=)
c.1431T>G (p.Val477=)
n.2689T>G
c.1023T>G (p.Val341=)
n.3512T>G
c.6897T>G (p.Val2299=)
c.6867T>G (p.Val2289=)
c.6804T>G (p.Val2268=)
c.5802T>G (p.Val1934=)
c.250T>G
c.7003T>G (n.7003T>G)
c.64+871T>G
n.281T>G
c.6858T>G (p.Val2286=)
c.6834T>G (p.Val2278=)
c.6894T>G (p.Val2298=)
17g.31338752C>ACA399014346NF1c.6850C>A (p.Leu2284Met)
c.1432C>A (p.Leu478Met)
n.2690C>A
c.1024C>A (p.Leu342Met)
n.3513C>A
c.6898C>A (p.Leu2300Met)
c.6868C>A (p.Leu2290Met)
c.6805C>A (p.Leu2269Met)
c.5803C>A (p.Leu1935Met)
c.251C>A
c.7004C>A (n.7004C>A)
c.64+872C>A
n.282C>A
c.6859C>A (p.Leu2287Met)
c.6835C>A (p.Leu2279Met)
c.6895C>A (p.Leu2299Met)
17g.31338752C>GCA399014347NF1c.6850C>G (p.Leu2284Val)
c.1432C>G (p.Leu478Val)
n.2690C>G
c.1024C>G (p.Leu342Val)
n.3513C>G
c.6898C>G (p.Leu2300Val)
c.6868C>G (p.Leu2290Val)
c.6805C>G (p.Leu2269Val)
c.5803C>G (p.Leu1935Val)
c.251C>G
c.7004C>G (n.7004C>G)
c.64+872C>G
n.282C>G
c.6859C>G (p.Leu2287Val)
c.6835C>G (p.Leu2279Val)
c.6895C>G (p.Leu2299Val)
 dbSNP
17g.31338752C>TCA499234347NF1c.6850C>T (p.Leu2284=)
c.1432C>T (p.Leu478=)
n.2690C>T
c.1024C>T (p.Leu342=)
n.3513C>T
c.6898C>T (p.Leu2300=)
c.6868C>T (p.Leu2290=)
c.6805C>T (p.Leu2269=)
c.5803C>T (p.Leu1935=)
c.251C>T
c.7004C>T (n.7004C>T)
c.64+872C>T
n.282C>T
c.6859C>T (p.Leu2287=)
c.6835C>T (p.Leu2279=)
c.6895C>T (p.Leu2299=)
 ClinVar dbSNP gnomAD v4
17g.31338753T>ACA399014348NF1c.6851T>A (p.Leu2284Gln)
c.1433T>A (p.Leu478Gln)
n.2691T>A
c.1025T>A (p.Leu342Gln)
n.3514T>A
c.6899T>A (p.Leu2300Gln)
c.6869T>A (p.Leu2290Gln)
c.6806T>A (p.Leu2269Gln)
c.5804T>A (p.Leu1935Gln)
c.252T>A
c.7005T>A (n.7005T>A)
c.64+873T>A
n.283T>A
c.6860T>A (p.Leu2287Gln)
c.6836T>A (p.Leu2279Gln)
c.6896T>A (p.Leu2299Gln)
17g.31338753T>CCA399014349NF1c.6851T>C (p.Leu2284Pro)
c.1433T>C (p.Leu478Pro)
n.2691T>C
c.1025T>C (p.Leu342Pro)
n.3514T>C
c.6899T>C (p.Leu2300Pro)
c.6869T>C (p.Leu2290Pro)
c.6806T>C (p.Leu2269Pro)
c.5804T>C (p.Leu1935Pro)
c.252T>C
c.7005T>C (n.7005T>C)
c.64+873T>C
n.283T>C
c.6860T>C (p.Leu2287Pro)
c.6836T>C (p.Leu2279Pro)
c.6896T>C (p.Leu2299Pro)
 ClinVar
17g.31338753T>GCA399014350NF1c.6851T>G (p.Leu2284Arg)
c.1433T>G (p.Leu478Arg)
n.2691T>G
c.1025T>G (p.Leu342Arg)
n.3514T>G
c.6899T>G (p.Leu2300Arg)
c.6869T>G (p.Leu2290Arg)
c.6806T>G (p.Leu2269Arg)
c.5804T>G (p.Leu1935Arg)
c.252T>G
c.7005T>G (n.7005T>G)
c.64+873T>G
n.283T>G
c.6860T>G (p.Leu2287Arg)
c.6836T>G (p.Leu2279Arg)
c.6896T>G (p.Leu2299Arg)
 ClinVar gnomAD v4
17g.31338754G>ACA8487443NF1c.6852G>A (p.Leu2284=)
c.1434G>A (p.Leu478=)
n.2692G>A
c.1026G>A (p.Leu342=)
n.3515G>A
c.6900G>A (p.Leu2300=)
c.6870G>A (p.Leu2290=)
c.6807G>A (p.Leu2269=)
c.5805G>A (p.Leu1935=)
c.253G>A
c.7006G>A (n.7006G>A)
c.64+874G>A
n.284G>A
c.6861G>A (p.Leu2287=)
c.6837G>A (p.Leu2279=)
c.6897G>A (p.Leu2299=)
 ClinVar dbSNP ExAC
17g.31338754G>CCA499234348NF1c.6852G>C (p.Leu2284=)
c.1434G>C (p.Leu478=)
n.2692G>C
c.1026G>C (p.Leu342=)
n.3515G>C
c.6900G>C (p.Leu2300=)
c.6870G>C (p.Leu2290=)
c.6807G>C (p.Leu2269=)
c.5805G>C (p.Leu1935=)
c.253G>C
c.7006G>C (n.7006G>C)
c.64+874G>C
n.284G>C
c.6861G>C (p.Leu2287=)
c.6837G>C (p.Leu2279=)
c.6897G>C (p.Leu2299=)
 ClinVar dbSNP
17g.31338754G=CA2255603143NF1c.6852G= (p.Leu2284=)
c.1434G= (p.Leu478=)
n.2692G=
c.1026G= (p.Leu342=)
n.3515G=
c.6900G= (p.Leu2300=)
c.6870G= (p.Leu2290=)
c.6807G= (p.Leu2269=)
c.5805G= (p.Leu1935=)
c.253G=
c.7006G= (n.7006G=)
c.64+874G=
n.284G=
c.6861G= (p.Leu2287=)
c.6837G= (p.Leu2279=)
c.6897G= (p.Leu2299=)
17g.31338754G>TCA337083NF1c.6852G>T (p.Leu2284=)
c.1434G>T (p.Leu478=)
n.2692G>T
c.1026G>T (p.Leu342=)
n.3515G>T
c.6900G>T (p.Leu2300=)
c.6870G>T (p.Leu2290=)
c.6807G>T (p.Leu2269=)
c.5805G>T (p.Leu1935=)
c.253G>T
c.7006G>T (n.7006G>T)
c.64+874G>T
n.284G>T
c.6861G>T (p.Leu2287=)
c.6837G>T (p.Leu2279=)
c.6897G>T (p.Leu2299=)
 ClinVar dbSNP
17g.31338755delCA2580093167NF1c.6853del (p.Ile2285Ter)
c.1435del (p.Ile479Ter)
n.2693del
c.1027del (p.Ile343Ter)
n.3516del
c.6901del (p.Ile2301Ter)
c.6871del (p.Ile2291Ter)
c.6808del (p.Ile2270Ter)
c.5806del (p.Ile1936Ter)
c.254del
c.7007del (n.7007del)
c.64+875del
n.285del
c.6862del (p.Ile2288Ter)
c.6838del (p.Ile2280Ter)
c.6898del (p.Ile2300Ter)
 ClinVar
17g.31338755A=CA2255603144NF1c.6853A= (p.Ile2285=)
c.1435A= (p.Ile479=)
n.2693A=
c.1027A= (p.Ile343=)
n.3516A=
c.6901A= (p.Ile2301=)
c.6871A= (p.Ile2291=)
c.6808A= (p.Ile2270=)
c.5806A= (p.Ile1936=)
c.254A=
c.7007A= (n.7007A=)
c.64+875A=
n.285A=
c.6862A= (p.Ile2288=)
c.6838A= (p.Ile2280=)
c.6898A= (p.Ile2300=)
17g.31338755A>CCA10580393NF1c.6853A>C (p.Ile2285Leu)
c.1435A>C (p.Ile479Leu)
n.2693A>C
c.1027A>C (p.Ile343Leu)
n.3516A>C
c.6901A>C (p.Ile2301Leu)
c.6871A>C (p.Ile2291Leu)
c.6808A>C (p.Ile2270Leu)
c.5806A>C (p.Ile1936Leu)
c.254A>C
c.7007A>C (n.7007A>C)
c.64+875A>C
n.285A>C
c.6862A>C (p.Ile2288Leu)
c.6838A>C (p.Ile2280Leu)
c.6898A>C (p.Ile2300Leu)
 ClinVar dbSNP gnomAD v4
17g.31338755A>GCA399014351NF1c.6853A>G (p.Ile2285Val)
c.1435A>G (p.Ile479Val)
n.2693A>G
c.1027A>G (p.Ile343Val)
n.3516A>G
c.6901A>G (p.Ile2301Val)
c.6871A>G (p.Ile2291Val)
c.6808A>G (p.Ile2270Val)
c.5806A>G (p.Ile1936Val)
c.254A>G
c.7007A>G (n.7007A>G)
c.64+875A>G
n.285A>G
c.6862A>G (p.Ile2288Val)
c.6838A>G (p.Ile2280Val)
c.6898A>G (p.Ile2300Val)
17g.31338755A>TCA399014352NF1c.6853A>T (p.Ile2285Leu)
c.1435A>T (p.Ile479Leu)
n.2693A>T
c.1027A>T (p.Ile343Leu)
n.3516A>T
c.6901A>T (p.Ile2301Leu)
c.6871A>T (p.Ile2291Leu)
c.6808A>T (p.Ile2270Leu)
c.5806A>T (p.Ile1936Leu)
c.254A>T
c.7007A>T (n.7007A>T)
c.64+875A>T
n.285A>T
c.6862A>T (p.Ile2288Leu)
c.6838A>T (p.Ile2280Leu)
c.6898A>T (p.Ile2300Leu)
 ClinVar dbSNP
17g.31338756T>ACA399014353NF1c.6854T>A (p.Ile2285Lys)
c.1436T>A (p.Ile479Lys)
n.2694T>A
c.1028T>A (p.Ile343Lys)
n.3517T>A
c.6902T>A (p.Ile2301Lys)
c.6872T>A (p.Ile2291Lys)
c.6809T>A (p.Ile2270Lys)
c.5807T>A (p.Ile1936Lys)
c.255T>A
c.7008T>A (n.7008T>A)
c.64+876T>A
n.286T>A
c.6863T>A (p.Ile2288Lys)
c.6839T>A (p.Ile2280Lys)
c.6899T>A (p.Ile2300Lys)
17g.31338756T>CCA399014355NF1c.6854T>C (p.Ile2285Thr)
c.1436T>C (p.Ile479Thr)
n.2694T>C
c.1028T>C (p.Ile343Thr)
n.3517T>C
c.6902T>C (p.Ile2301Thr)
c.6872T>C (p.Ile2291Thr)
c.6809T>C (p.Ile2270Thr)
c.5807T>C (p.Ile1936Thr)
c.255T>C
c.7008T>C (n.7008T>C)
c.64+876T>C
n.286T>C
c.6863T>C (p.Ile2288Thr)
c.6839T>C (p.Ile2280Thr)
c.6899T>C (p.Ile2300Thr)
 ClinVar
17g.31338756T>GCA399014354NF1c.6854T>G (p.Ile2285Arg)
c.1436T>G (p.Ile479Arg)
n.2694T>G
c.1028T>G (p.Ile343Arg)
n.3517T>G
c.6902T>G (p.Ile2301Arg)
c.6872T>G (p.Ile2291Arg)
c.6809T>G (p.Ile2270Arg)
c.5807T>G (p.Ile1936Arg)
c.255T>G
c.7008T>G (n.7008T>G)
c.64+876T>G
n.286T>G
c.6863T>G (p.Ile2288Arg)
c.6839T>G (p.Ile2280Arg)
c.6899T>G (p.Ile2300Arg)
17g.31338757A>CCA499234349NF1c.6855A>C (p.Ile2285=)
c.1437A>C (p.Ile479=)
n.2695A>C
c.1029A>C (p.Ile343=)
n.3518A>C
c.6903A>C (p.Ile2301=)
c.6873A>C (p.Ile2291=)
c.6810A>C (p.Ile2270=)
c.5808A>C (p.Ile1936=)
c.256A>C
c.7009A>C (n.7009A>C)
c.64+877A>C
n.287A>C
c.6864A>C (p.Ile2288=)
c.6840A>C (p.Ile2280=)
c.6900A>C (p.Ile2300=)
17g.31338757A>GCA399014356NF1c.6855A>G (p.Ile2285Met)
c.1437A>G (p.Ile479Met)
n.2695A>G
c.1029A>G (p.Ile343Met)
n.3518A>G
c.6903A>G (p.Ile2301Met)
c.6873A>G (p.Ile2291Met)
c.6810A>G (p.Ile2270Met)
c.5808A>G (p.Ile1936Met)
c.256A>G
c.7009A>G (n.7009A>G)
c.64+877A>G
n.287A>G
c.6864A>G (p.Ile2288Met)
c.6840A>G (p.Ile2280Met)
c.6900A>G (p.Ile2300Met)
 dbSNP gnomAD v4
17g.31338757A>TCA499234350NF1c.6855A>T (p.Ile2285=)
c.1437A>T (p.Ile479=)
n.2695A>T
c.1029A>T (p.Ile343=)
n.3518A>T
c.6903A>T (p.Ile2301=)
c.6873A>T (p.Ile2291=)
c.6810A>T (p.Ile2270=)
c.5808A>T (p.Ile1936=)
c.256A>T
c.7009A>T (n.7009A>T)
c.64+877A>T
n.287A>T
c.6864A>T (p.Ile2288=)
c.6840A>T (p.Ile2280=)
c.6900A>T (p.Ile2300=)
17g.31338757_31338758insAACA658760999NF1c.6855_6856insAA (p.Glu2286LysfsTer5)
c.1437_1438insAA (p.Glu480LysfsTer5)
n.2695_2696insAA
c.1029_1030insAA (p.Glu344LysfsTer5)
n.3518_3519insAA
c.6903_6904insAA (p.Glu2302LysfsTer5)
c.6873_6874insAA (p.Glu2292LysfsTer5)
c.6810_6811insAA (p.Glu2271LysfsTer5)
c.5808_5809insAA (p.Glu1937LysfsTer5)
c.256_257insAA
c.7009_7010insAA (n.7009_7010insAA)
c.64+877_64+878insAA
n.287_288insAA
c.6864_6865insAA (p.Glu2289LysfsTer5)
c.6840_6841insAA (p.Glu2281LysfsTer5)
c.6900_6901insAA (p.Glu2301LysfsTer5)
17g.31338757_31338761delCA2695225187NF1c.6855_6859del (p.Glu2286TyrfsTer13)
c.1437_1441del (p.Glu480TyrfsTer13)
n.2695_2699del
c.1029_1033del (p.Glu344TyrfsTer13)
n.3518_3522del
c.6903_6907del (p.Glu2302TyrfsTer13)
c.6873_6877del (p.Glu2292TyrfsTer13)
c.6810_6814del (p.Glu2271TyrfsTer13)
c.5808_5812del (p.Glu1937TyrfsTer13)
c.256_260del
c.7009_7013del (n.7009_7013del)
c.64+877_64+881del
n.287_291del
c.6864_6868del (p.Glu2289TyrfsTer13)
c.6840_6844del (p.Glu2281TyrfsTer13)
c.6900_6904del (p.Glu2301TyrfsTer13)
17g.31338758G>ACA399014357NF1c.6856G>A (p.Glu2286Lys)
c.1438G>A (p.Glu480Lys)
n.2696G>A
c.1030G>A (p.Glu344Lys)
n.3519G>A
c.6904G>A (p.Glu2302Lys)
c.6874G>A (p.Glu2292Lys)
c.6811G>A (p.Glu2271Lys)
c.5809G>A (p.Glu1937Lys)
c.257G>A
c.7010G>A (n.7010G>A)
c.64+878G>A
n.288G>A
c.6865G>A (p.Glu2289Lys)
c.6841G>A (p.Glu2281Lys)
c.6901G>A (p.Glu2301Lys)
 dbSNP
17g.31338758G>CCA399014358NF1c.6856G>C (p.Glu2286Gln)
c.1438G>C (p.Glu480Gln)
n.2696G>C
c.1030G>C (p.Glu344Gln)
n.3519G>C
c.6904G>C (p.Glu2302Gln)
c.6874G>C (p.Glu2292Gln)
c.6811G>C (p.Glu2271Gln)
c.5809G>C (p.Glu1937Gln)
c.257G>C
c.7010G>C (n.7010G>C)
c.64+878G>C
n.288G>C
c.6865G>C (p.Glu2289Gln)
c.6841G>C (p.Glu2281Gln)
c.6901G>C (p.Glu2301Gln)
 dbSNP
17g.31338758G>TCA399014359NF1c.6856G>T (p.Glu2286Ter)
c.1438G>T (p.Glu480Ter)
n.2696G>T
c.1030G>T (p.Glu344Ter)
n.3519G>T
c.6904G>T (p.Glu2302Ter)
c.6874G>T (p.Glu2292Ter)
c.6811G>T (p.Glu2271Ter)
c.5809G>T (p.Glu1937Ter)
c.257G>T
c.7010G>T (n.7010G>T)
c.64+878G>T
n.288G>T
c.6865G>T (p.Glu2289Ter)
c.6841G>T (p.Glu2281Ter)
c.6901G>T (p.Glu2301Ter)
17g.31338759A>CCA399014360NF1c.6857A>C (p.Glu2286Ala)
c.1439A>C (p.Glu480Ala)
n.2697A>C
c.1031A>C (p.Glu344Ala)
n.3520A>C
c.6905A>C (p.Glu2302Ala)
c.6875A>C (p.Glu2292Ala)
c.6812A>C (p.Glu2271Ala)
c.5810A>C (p.Glu1937Ala)
c.258A>C
c.7011A>C (n.7011A>C)
c.64+879A>C
n.289A>C
c.6866A>C (p.Glu2289Ala)
c.6842A>C (p.Glu2281Ala)
c.6902A>C (p.Glu2301Ala)
17g.31338759A>GCA399014361NF1c.6857A>G (p.Glu2286Gly)
c.1439A>G (p.Glu480Gly)
n.2697A>G
c.1031A>G (p.Glu344Gly)
n.3520A>G
c.6905A>G (p.Glu2302Gly)
c.6875A>G (p.Glu2292Gly)
c.6812A>G (p.Glu2271Gly)
c.5810A>G (p.Glu1937Gly)
c.258A>G
c.7011A>G (n.7011A>G)
c.64+879A>G
n.289A>G
c.6866A>G (p.Glu2289Gly)
c.6842A>G (p.Glu2281Gly)
c.6902A>G (p.Glu2301Gly)
 dbSNP
17g.31338759A>TCA399014362NF1c.6857A>T (p.Glu2286Val)
c.1439A>T (p.Glu480Val)
n.2697A>T
c.1031A>T (p.Glu344Val)
n.3520A>T
c.6905A>T (p.Glu2302Val)
c.6875A>T (p.Glu2292Val)
c.6812A>T (p.Glu2271Val)
c.5810A>T (p.Glu1937Val)
c.258A>T
c.7011A>T (n.7011A>T)
c.64+879A>T
n.289A>T
c.6866A>T (p.Glu2289Val)
c.6842A>T (p.Glu2281Val)
c.6902A>T (p.Glu2301Val)
 dbSNP
17g.31338760A>CCA399014363NF1c.6858A>C (p.Glu2286Asp)
c.1440A>C (p.Glu480Asp)
n.2698A>C
c.1032A>C (p.Glu344Asp)
n.3521A>C
c.6906A>C (p.Glu2302Asp)
c.6876A>C (p.Glu2292Asp)
c.6813A>C (p.Glu2271Asp)
c.5811A>C (p.Glu1937Asp)
c.259A>C
c.7012A>C (n.7012A>C)
c.64+880A>C
n.290A>C
c.6867A>C (p.Glu2289Asp)
c.6843A>C (p.Glu2281Asp)
c.6903A>C (p.Glu2301Asp)
17g.31338760A>GCA499234351NF1c.6858A>G (p.Glu2286=)
c.1440A>G (p.Glu480=)
n.2698A>G
c.1032A>G (p.Glu344=)
n.3521A>G
c.6906A>G (p.Glu2302=)
c.6876A>G (p.Glu2292=)
c.6813A>G (p.Glu2271=)
c.5811A>G (p.Glu1937=)
c.259A>G
c.7012A>G (n.7012A>G)
c.64+880A>G
n.290A>G
c.6867A>G (p.Glu2289=)
c.6843A>G (p.Glu2281=)
c.6903A>G (p.Glu2301=)
17g.31338760A>TCA399014364NF1c.6858A>T (p.Glu2286Asp)
c.1440A>T (p.Glu480Asp)
n.2698A>T
c.1032A>T (p.Glu344Asp)
n.3521A>T
c.6906A>T (p.Glu2302Asp)
c.6876A>T (p.Glu2292Asp)
c.6813A>T (p.Glu2271Asp)
c.5811A>T (p.Glu1937Asp)
c.259A>T
c.7012A>T (n.7012A>T)
c.64+880A>T
n.290A>T
c.6867A>T (p.Glu2289Asp)
c.6843A>T (p.Glu2281Asp)
c.6903A>T (p.Glu2301Asp)
 dbSNP
17g.31338761_31338764delCA2697559627NF1c.6859_6862del (p.Ala2287GlnfsTer2)
c.1441_1444del (p.Ala481GlnfsTer2)
n.2699_2702del
c.1033_1036del (p.Ala345GlnfsTer2)
n.3522_3525del
c.6907_6910del (p.Ala2303GlnfsTer2)
c.6877_6880del (p.Ala2293GlnfsTer2)
c.6814_6817del (p.Ala2272GlnfsTer2)
c.5812_5815del (p.Ala1938GlnfsTer2)
c.260_263del
c.7013_7016del (n.7013_7016del)
c.64+881_64+884del
n.291_294del
c.6868_6871del (p.Ala2290GlnfsTer2)
c.6844_6847del (p.Ala2282GlnfsTer2)
c.6904_6907del (p.Ala2302GlnfsTer2)
 ClinVar
17g.31338761G>ACA399014367NF1c.6859G>A (p.Ala2287Thr)
c.1441G>A (p.Ala481Thr)
n.2699G>A
c.1033G>A (p.Ala345Thr)
n.3522G>A
c.6907G>A (p.Ala2303Thr)
c.6877G>A (p.Ala2293Thr)
c.6814G>A (p.Ala2272Thr)
c.5812G>A (p.Ala1938Thr)
c.260G>A
c.7013G>A (n.7013G>A)
c.64+881G>A
n.291G>A
c.6868G>A (p.Ala2290Thr)
c.6844G>A (p.Ala2282Thr)
c.6904G>A (p.Ala2302Thr)
 dbSNP
17g.31338761G>CCA399014366NF1c.6859G>C (p.Ala2287Pro)
c.1441G>C (p.Ala481Pro)
n.2699G>C
c.1033G>C (p.Ala345Pro)
n.3522G>C
c.6907G>C (p.Ala2303Pro)
c.6877G>C (p.Ala2293Pro)
c.6814G>C (p.Ala2272Pro)
c.5812G>C (p.Ala1938Pro)
c.260G>C
c.7013G>C (n.7013G>C)
c.64+881G>C
n.291G>C
c.6868G>C (p.Ala2290Pro)
c.6844G>C (p.Ala2282Pro)
c.6904G>C (p.Ala2302Pro)
 dbSNP
17g.31338761G>TCA399014365NF1c.6859G>T (p.Ala2287Ser)
c.1441G>T (p.Ala481Ser)
n.2699G>T
c.1033G>T (p.Ala345Ser)
n.3522G>T
c.6907G>T (p.Ala2303Ser)
c.6877G>T (p.Ala2293Ser)
c.6814G>T (p.Ala2272Ser)
c.5812G>T (p.Ala1938Ser)
c.260G>T
c.7013G>T (n.7013G>T)
c.64+881G>T
n.291G>T
c.6868G>T (p.Ala2290Ser)
c.6844G>T (p.Ala2282Ser)
c.6904G>T (p.Ala2302Ser)
17g.31338761_31338762delinsAGCA2739267436NF1c.6859_6860delinsAG (p.Ala2287Ser)
c.1441_1442delinsAG (p.Ala481Ser)
n.2699_2700delinsAG
c.1033_1034delinsAG (p.Ala345Ser)
n.3522_3523delinsAG
c.6907_6908delinsAG (p.Ala2303Ser)
c.6877_6878delinsAG (p.Ala2293Ser)
c.6814_6815delinsAG (p.Ala2272Ser)
c.5812_5813delinsAG (p.Ala1938Ser)
c.260_261delinsAG
c.7013_7014delinsAG (n.7013_7014delinsAG)
c.64+881_64+882delinsAG
n.291_292delinsAG
c.6868_6869delinsAG (p.Ala2290Ser)
c.6844_6845delinsAG (p.Ala2282Ser)
c.6904_6905delinsAG (p.Ala2302Ser)
 ClinVar
17g.31338761_31338762delinsGCCA2255603145NF1c.6859_6860delinsGC (p.Ala2287=)
c.1441_1442delinsGC (p.Ala481=)
n.2699_2700delinsGC
c.1033_1034delinsGC (p.Ala345=)
n.3522_3523delinsGC
c.6907_6908delinsGC (p.Ala2303=)
c.6877_6878delinsGC (p.Ala2293=)
c.6814_6815delinsGC (p.Ala2272=)
c.5812_5813delinsGC (p.Ala1938=)
c.260_261delinsGC
c.7013_7014delinsGC (n.7013_7014delinsGC)
c.64+881_64+882delinsGC
n.291_292delinsGC
c.6868_6869delinsGC (p.Ala2290=)
c.6844_6845delinsGC (p.Ala2282=)
c.6904_6905delinsGC (p.Ala2302=)
17g.31338762delCA645372614NF1c.6860del (p.Ala2287ValfsTer3)
c.1442del (p.Ala481ValfsTer3)
n.2700del
c.1034del (p.Ala345ValfsTer3)
n.3523del
c.6908del (p.Ala2303ValfsTer3)
c.6878del (p.Ala2293ValfsTer3)
c.6815del (p.Ala2272ValfsTer3)
c.5813del (p.Ala1938ValfsTer3)
c.261del
c.7014del (n.7014del)
c.64+882del
n.292del
c.6869del (p.Ala2290ValfsTer3)
c.6845del (p.Ala2282ValfsTer3)
c.6905del (p.Ala2302ValfsTer3)
 ClinVar dbSNP
17g.31338762C>ACA399014368NF1c.6860C>A (p.Ala2287Asp)
c.1442C>A (p.Ala481Asp)
n.2700C>A
c.1034C>A (p.Ala345Asp)
n.3523C>A
c.6908C>A (p.Ala2303Asp)
c.6878C>A (p.Ala2293Asp)
c.6815C>A (p.Ala2272Asp)
c.5813C>A (p.Ala1938Asp)
c.261C>A
c.7014C>A (n.7014C>A)
c.64+882C>A
n.292C>A
c.6869C>A (p.Ala2290Asp)
c.6845C>A (p.Ala2282Asp)
c.6905C>A (p.Ala2302Asp)
 dbSNP
17g.31338762C>GCA399014369NF1c.6860C>G (p.Ala2287Gly)
c.1442C>G (p.Ala481Gly)
n.2700C>G
c.1034C>G (p.Ala345Gly)
n.3523C>G
c.6908C>G (p.Ala2303Gly)
c.6878C>G (p.Ala2293Gly)
c.6815C>G (p.Ala2272Gly)
c.5813C>G (p.Ala1938Gly)
c.261C>G
c.7014C>G (n.7014C>G)
c.64+882C>G
n.292C>G
c.6869C>G (p.Ala2290Gly)
c.6845C>G (p.Ala2282Gly)
c.6905C>G (p.Ala2302Gly)
 dbSNP
17g.31338762C>TCA399014370NF1c.6860C>T (p.Ala2287Val)
c.1442C>T (p.Ala481Val)
n.2700C>T
c.1034C>T (p.Ala345Val)
n.3523C>T
c.6908C>T (p.Ala2303Val)
c.6878C>T (p.Ala2293Val)
c.6815C>T (p.Ala2272Val)
c.5813C>T (p.Ala1938Val)
c.261C>T
c.7014C>T (n.7014C>T)
c.64+882C>T
n.292C>T
c.6869C>T (p.Ala2290Val)
c.6845C>T (p.Ala2282Val)
c.6905C>T (p.Ala2302Val)
 dbSNP
17g.31338762_31338763dupCA2697559628NF1c.6860_6861dup (p.Thr2288LeufsTer3)
c.1442_1443dup (p.Thr482LeufsTer3)
n.2700_2701dup
c.1034_1035dup (p.Thr346LeufsTer3)
n.3523_3524dup
c.6908_6909dup (p.Thr2304LeufsTer3)
c.6878_6879dup (p.Thr2294LeufsTer3)
c.6815_6816dup (p.Thr2273LeufsTer3)
c.5813_5814dup (p.Thr1939LeufsTer3)
c.261_262dup
c.7014_7015dup (n.7014_7015dup)
c.64+882_64+883dup
n.292_293dup
c.6869_6870dup (p.Thr2291LeufsTer3)
c.6845_6846dup (p.Thr2283LeufsTer3)
c.6905_6906dup (p.Thr2303LeufsTer3)
 ClinVar
17g.31338763T>ACA499234352NF1c.6861T>A (p.Ala2287=)
c.1443T>A (p.Ala481=)
n.2701T>A
c.1035T>A (p.Ala345=)
n.3524T>A
c.6909T>A (p.Ala2303=)
c.6879T>A (p.Ala2293=)
c.6816T>A (p.Ala2272=)
c.5814T>A (p.Ala1938=)
c.262T>A
c.7015T>A (n.7015T>A)
c.64+883T>A
n.293T>A
c.6870T>A (p.Ala2290=)
c.6846T>A (p.Ala2282=)
c.6906T>A (p.Ala2302=)
 dbSNP
17g.31338763T>CCA8487444NF1c.6861T>C (p.Ala2287=)
c.1443T>C (p.Ala481=)
n.2701T>C
c.1035T>C (p.Ala345=)
n.3524T>C
c.6909T>C (p.Ala2303=)
c.6879T>C (p.Ala2293=)
c.6816T>C (p.Ala2272=)
c.5814T>C (p.Ala1938=)
c.262T>C
c.7015T>C (n.7015T>C)
c.64+883T>C
n.293T>C
c.6870T>C (p.Ala2290=)
c.6846T>C (p.Ala2282=)
c.6906T>C (p.Ala2302=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338763T>GCA499234353NF1c.6861T>G (p.Ala2287=)
c.1443T>G (p.Ala481=)
n.2701T>G
c.1035T>G (p.Ala345=)
n.3524T>G
c.6909T>G (p.Ala2303=)
c.6879T>G (p.Ala2293=)
c.6816T>G (p.Ala2272=)
c.5814T>G (p.Ala1938=)
c.262T>G
c.7015T>G (n.7015T>G)
c.64+883T>G
n.293T>G
c.6870T>G (p.Ala2290=)
c.6846T>G (p.Ala2282=)
c.6906T>G (p.Ala2302=)
17g.31338763T=CA2255603146NF1c.6861T= (p.Ala2287=)
c.1443T= (p.Ala481=)
n.2701T=
c.1035T= (p.Ala345=)
n.3524T=
c.6909T= (p.Ala2303=)
c.6879T= (p.Ala2293=)
c.6816T= (p.Ala2272=)
c.5814T= (p.Ala1938=)
c.262T=
c.7015T= (n.7015T=)
c.64+883T=
n.293T=
c.6870T= (p.Ala2290=)
c.6846T= (p.Ala2282=)
c.6906T= (p.Ala2302=)
17g.31338764A>CCA399014371NF1c.6862A>C (p.Thr2288Pro)
c.1444A>C (p.Thr482Pro)
n.2702A>C
c.1036A>C (p.Thr346Pro)
n.3525A>C
c.6910A>C (p.Thr2304Pro)
c.6880A>C (p.Thr2294Pro)
c.6817A>C (p.Thr2273Pro)
c.5815A>C (p.Thr1939Pro)
c.263A>C
c.7016A>C (n.7016A>C)
c.64+884A>C
n.294A>C
c.6871A>C (p.Thr2291Pro)
c.6847A>C (p.Thr2283Pro)
c.6907A>C (p.Thr2303Pro)
17g.31338764A>GCA399014372NF1c.6862A>G (p.Thr2288Ala)
c.1444A>G (p.Thr482Ala)
n.2702A>G
c.1036A>G (p.Thr346Ala)
n.3525A>G
c.6910A>G (p.Thr2304Ala)
c.6880A>G (p.Thr2294Ala)
c.6817A>G (p.Thr2273Ala)
c.5815A>G (p.Thr1939Ala)
c.263A>G
c.7016A>G (n.7016A>G)
c.64+884A>G
n.294A>G
c.6871A>G (p.Thr2291Ala)
c.6847A>G (p.Thr2283Ala)
c.6907A>G (p.Thr2303Ala)
 gnomAD v4
17g.31338764A>TCA399014373NF1c.6862A>T (p.Thr2288Ser)
c.1444A>T (p.Thr482Ser)
n.2702A>T
c.1036A>T (p.Thr346Ser)
n.3525A>T
c.6910A>T (p.Thr2304Ser)
c.6880A>T (p.Thr2294Ser)
c.6817A>T (p.Thr2273Ser)
c.5815A>T (p.Thr1939Ser)
c.263A>T
c.7016A>T (n.7016A>T)
c.64+884A>T
n.294A>T
c.6871A>T (p.Thr2291Ser)
c.6847A>T (p.Thr2283Ser)
c.6907A>T (p.Thr2303Ser)
 dbSNP
17g.31338764_31338790delCA2573153878NF1c.6862_6888del (p.Thr2288_Gln2296del)
c.1444_1470del (p.Thr482_Gln490del)
n.2702_2728del
c.1036_1062del (p.Thr346_Gln354del)
n.3525_3551del
c.6910_6936del (p.Thr2304_Gln2312del)
c.6880_6906del (p.Thr2294_Gln2302del)
c.6817_6843del (p.Thr2273_Gln2281del)
c.5815_5841del (p.Thr1939_Gln1947del)
c.263_289del
c.7016_7042del (n.7016_7042del)
c.64+884_64+910del
n.294_320del
c.6871_6897del (p.Thr2291_Gln2299del)
c.6847_6873del (p.Thr2283_Gln2291del)
c.6907_6933del (p.Thr2303_Gln2311del)
 ClinVar dbSNP
17g.31338765C>ACA399014374NF1c.6863C>A (p.Thr2288Lys)
c.1445C>A (p.Thr482Lys)
n.2703C>A
c.1037C>A (p.Thr346Lys)
n.3526C>A
c.6911C>A (p.Thr2304Lys)
c.6881C>A (p.Thr2294Lys)
c.6818C>A (p.Thr2273Lys)
c.5816C>A (p.Thr1939Lys)
c.264C>A
c.7017C>A (n.7017C>A)
c.64+885C>A
n.295C>A
c.6872C>A (p.Thr2291Lys)
c.6848C>A (p.Thr2283Lys)
c.6908C>A (p.Thr2303Lys)
17g.31338765C=CA2255603147NF1c.6863C= (p.Thr2288=)
c.1445C= (p.Thr482=)
n.2703C=
c.1037C= (p.Thr346=)
n.3526C=
c.6911C= (p.Thr2304=)
c.6881C= (p.Thr2294=)
c.6818C= (p.Thr2273=)
c.5816C= (p.Thr1939=)
c.264C=
c.7017C= (n.7017C=)
c.64+885C=
n.295C=
c.6872C= (p.Thr2291=)
c.6848C= (p.Thr2283=)
c.6908C= (p.Thr2303=)
17g.31338765C>GCA399014375NF1c.6863C>G (p.Thr2288Arg)
c.1445C>G (p.Thr482Arg)
n.2703C>G
c.1037C>G (p.Thr346Arg)
n.3526C>G
c.6911C>G (p.Thr2304Arg)
c.6881C>G (p.Thr2294Arg)
c.6818C>G (p.Thr2273Arg)
c.5816C>G (p.Thr1939Arg)
c.264C>G
c.7017C>G (n.7017C>G)
c.64+885C>G
n.295C>G
c.6872C>G (p.Thr2291Arg)
c.6848C>G (p.Thr2283Arg)
c.6908C>G (p.Thr2303Arg)
 dbSNP
17g.31338765C>TCA190906NF1c.6863C>T (p.Thr2288Ile)
c.1445C>T (p.Thr482Ile)
n.2703C>T
c.1037C>T (p.Thr346Ile)
n.3526C>T
c.6911C>T (p.Thr2304Ile)
c.6881C>T (p.Thr2294Ile)
c.6818C>T (p.Thr2273Ile)
c.5816C>T (p.Thr1939Ile)
c.264C>T
c.7017C>T (n.7017C>T)
c.64+885C>T
n.295C>T
c.6872C>T (p.Thr2291Ile)
c.6848C>T (p.Thr2283Ile)
c.6908C>T (p.Thr2303Ile)
 ClinVar dbSNP gnomAD v4
17g.31338767_31338782delCA2573153879NF1c.6865_6880del (p.Val2289AsnfsTer19)
c.1447_1462del (p.Val483AsnfsTer19)
n.2705_2720del
c.1039_1054del (p.Val347AsnfsTer19)
n.3528_3543del
c.6913_6928del (p.Val2305AsnfsTer19)
c.6883_6898del (p.Val2295AsnfsTer19)
c.6820_6835del (p.Val2274AsnfsTer19)
c.5818_5833del (p.Val1940AsnfsTer19)
c.266_281del
c.7019_7034del (n.7019_7034del)
c.64+887_64+902del
n.297_312del
c.6874_6889del (p.Val2292AsnfsTer19)
c.6850_6865del (p.Val2284AsnfsTer19)
c.6910_6925del (p.Val2304AsnfsTer19)
 ClinVar dbSNP
17g.31338766A=CA2255603148NF1c.6864A= (p.Thr2288=)
c.1446A= (p.Thr482=)
n.2704A=
c.1038A= (p.Thr346=)
n.3527A=
c.6912A= (p.Thr2304=)
c.6882A= (p.Thr2294=)
c.6819A= (p.Thr2273=)
c.5817A= (p.Thr1939=)
c.265A=
c.7018A= (n.7018A=)
c.64+886A=
n.296A=
c.6873A= (p.Thr2291=)
c.6849A= (p.Thr2283=)
c.6909A= (p.Thr2303=)
17g.31338766A>CCA499234355NF1c.6864A>C (p.Thr2288=)
c.1446A>C (p.Thr482=)
n.2704A>C
c.1038A>C (p.Thr346=)
n.3527A>C
c.6912A>C (p.Thr2304=)
c.6882A>C (p.Thr2294=)
c.6819A>C (p.Thr2273=)
c.5817A>C (p.Thr1939=)
c.265A>C
c.7018A>C (n.7018A>C)
c.64+886A>C
n.296A>C
c.6873A>C (p.Thr2291=)
c.6849A>C (p.Thr2283=)
c.6909A>C (p.Thr2303=)
17g.31338766A>GCA8487445NF1c.6864A>G (p.Thr2288=)
c.1446A>G (p.Thr482=)
n.2704A>G
c.1038A>G (p.Thr346=)
n.3527A>G
c.6912A>G (p.Thr2304=)
c.6882A>G (p.Thr2294=)
c.6819A>G (p.Thr2273=)
c.5817A>G (p.Thr1939=)
c.265A>G
c.7018A>G (n.7018A>G)
c.64+886A>G
n.296A>G
c.6873A>G (p.Thr2291=)
c.6849A>G (p.Thr2283=)
c.6909A>G (p.Thr2303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338766A>TCA499234354NF1c.6864A>T (p.Thr2288=)
c.1446A>T (p.Thr482=)
n.2704A>T
c.1038A>T (p.Thr346=)
n.3527A>T
c.6912A>T (p.Thr2304=)
c.6882A>T (p.Thr2294=)
c.6819A>T (p.Thr2273=)
c.5817A>T (p.Thr1939=)
c.265A>T
c.7018A>T (n.7018A>T)
c.64+886A>T
n.296A>T
c.6873A>T (p.Thr2291=)
c.6849A>T (p.Thr2283=)
c.6909A>T (p.Thr2303=)
17g.31338767G>ACA399014376NF1c.6865G>A (p.Val2289Ile)
c.1447G>A (p.Val483Ile)
n.2705G>A
c.1039G>A (p.Val347Ile)
n.3528G>A
c.6913G>A (p.Val2305Ile)
c.6883G>A (p.Val2295Ile)
c.6820G>A (p.Val2274Ile)
c.5818G>A (p.Val1940Ile)
c.266G>A
c.7019G>A (n.7019G>A)
c.64+887G>A
n.297G>A
c.6874G>A (p.Val2292Ile)
c.6850G>A (p.Val2284Ile)
c.6910G>A (p.Val2304Ile)
 dbSNP
17g.31338767G>CCA399014377NF1c.6865G>C (p.Val2289Leu)
c.1447G>C (p.Val483Leu)
n.2705G>C
c.1039G>C (p.Val347Leu)
n.3528G>C
c.6913G>C (p.Val2305Leu)
c.6883G>C (p.Val2295Leu)
c.6820G>C (p.Val2274Leu)
c.5818G>C (p.Val1940Leu)
c.266G>C
c.7019G>C (n.7019G>C)
c.64+887G>C
n.297G>C
c.6874G>C (p.Val2292Leu)
c.6850G>C (p.Val2284Leu)
c.6910G>C (p.Val2304Leu)
 dbSNP
17g.31338767G>TCA399014378NF1c.6865G>T (p.Val2289Leu)
c.1447G>T (p.Val483Leu)
n.2705G>T
c.1039G>T (p.Val347Leu)
n.3528G>T
c.6913G>T (p.Val2305Leu)
c.6883G>T (p.Val2295Leu)
c.6820G>T (p.Val2274Leu)
c.5818G>T (p.Val1940Leu)
c.266G>T
c.7019G>T (n.7019G>T)
c.64+887G>T
n.297G>T
c.6874G>T (p.Val2292Leu)
c.6850G>T (p.Val2284Leu)
c.6910G>T (p.Val2304Leu)
 ClinVar dbSNP
17g.31338767_31338785delinsGTAATAGCACTAACCAAATCA2255603149NF1c.6865_6883delinsGTAATAGCACTAACCAAAT (p.Val2289=)
c.1447_1465delinsGTAATAGCACTAACCAAAT (p.Val483=)
n.2705_2723delinsGTAATAGCACTAACCAAAT
c.1039_1057delinsGTAATAGCACTAACCAAAT (p.Val347=)
n.3528_3546delinsGTAATAGCACTAACCAAAT
c.6913_6931delinsGTAATAGCACTAACCAAAT (p.Val2305=)
c.6883_6901delinsGTAATAGCACTAACCAAAT (p.Val2295=)
c.6820_6838delinsGTAATAGCACTAACCAAAT (p.Val2274=)
c.5818_5836delinsGTAATAGCACTAACCAAAT (p.Val1940=)
c.266_284delinsGTAATAGCACTAACCAAAT
c.7019_7037delinsGTAATAGCACTAACCAAAT (n.7019_7037delinsGTAATAGCACTAACCAAAT)
c.64+887_64+905delinsGTAATAGCACTAACCAAAT
n.297_315delinsGTAATAGCACTAACCAAAT
c.6874_6892delinsGTAATAGCACTAACCAAAT (p.Val2292=)
c.6850_6868delinsGTAATAGCACTAACCAAAT (p.Val2284=)
c.6910_6928delinsGTAATAGCACTAACCAAAT (p.Val2304=)
17g.31338768T>ACA399014379NF1c.6866T>A (p.Val2289Glu)
c.1448T>A (p.Val483Glu)
n.2706T>A
c.1040T>A (p.Val347Glu)
n.3529T>A
c.6914T>A (p.Val2305Glu)
c.6884T>A (p.Val2295Glu)
c.6821T>A (p.Val2274Glu)
c.5819T>A (p.Val1940Glu)
c.267T>A
c.7020T>A (n.7020T>A)
c.64+888T>A
n.298T>A
c.6875T>A (p.Val2292Glu)
c.6851T>A (p.Val2284Glu)
c.6911T>A (p.Val2304Glu)
17g.31338768T>CCA399014381NF1c.6866T>C (p.Val2289Ala)
c.1448T>C (p.Val483Ala)
n.2706T>C
c.1040T>C (p.Val347Ala)
n.3529T>C
c.6914T>C (p.Val2305Ala)
c.6884T>C (p.Val2295Ala)
c.6821T>C (p.Val2274Ala)
c.5819T>C (p.Val1940Ala)
c.267T>C
c.7020T>C (n.7020T>C)
c.64+888T>C
n.298T>C
c.6875T>C (p.Val2292Ala)
c.6851T>C (p.Val2284Ala)
c.6911T>C (p.Val2304Ala)
17g.31338768T>GCA399014380NF1c.6866T>G (p.Val2289Gly)
c.1448T>G (p.Val483Gly)
n.2706T>G
c.1040T>G (p.Val347Gly)
n.3529T>G
c.6914T>G (p.Val2305Gly)
c.6884T>G (p.Val2295Gly)
c.6821T>G (p.Val2274Gly)
c.5819T>G (p.Val1940Gly)
c.267T>G
c.7020T>G (n.7020T>G)
c.64+888T>G
n.298T>G
c.6875T>G (p.Val2292Gly)
c.6851T>G (p.Val2284Gly)
c.6911T>G (p.Val2304Gly)
17g.31338770_31338787delCA2255603150NF1c.6868_6885del (p.Ile2290_Leu2295del)
c.1450_1467del (p.Ile484_Leu489del)
n.2708_2725del
c.1042_1059del (p.Ile348_Leu353del)
n.3531_3548del
c.6916_6933del (p.Ile2306_Leu2311del)
c.6886_6903del (p.Ile2296_Leu2301del)
c.6823_6840del (p.Ile2275_Leu2280del)
c.5821_5838del (p.Ile1941_Leu1946del)
c.269_286del
c.7022_7039del (n.7022_7039del)
c.64+890_64+907del
n.300_317del
c.6877_6894del (p.Ile2293_Leu2298del)
c.6853_6870del (p.Ile2285_Leu2290del)
c.6913_6930del (p.Ile2305_Leu2310del)
 ClinVar dbSNP
17g.31338769A>CCA499234356NF1c.6867A>C (p.Val2289=)
c.1449A>C (p.Val483=)
n.2707A>C
c.1041A>C (p.Val347=)
n.3530A>C
c.6915A>C (p.Val2305=)
c.6885A>C (p.Val2295=)
c.6822A>C (p.Val2274=)
c.5820A>C (p.Val1940=)
c.268A>C
c.7021A>C (n.7021A>C)
c.64+889A>C
n.299A>C
c.6876A>C (p.Val2292=)
c.6852A>C (p.Val2284=)
c.6912A>C (p.Val2304=)
17g.31338769A>GCA499234357NF1c.6867A>G (p.Val2289=)
c.1449A>G (p.Val483=)
n.2707A>G
c.1041A>G (p.Val347=)
n.3530A>G
c.6915A>G (p.Val2305=)
c.6885A>G (p.Val2295=)
c.6822A>G (p.Val2274=)
c.5820A>G (p.Val1940=)
c.268A>G
c.7021A>G (n.7021A>G)
c.64+889A>G
n.299A>G
c.6876A>G (p.Val2292=)
c.6852A>G (p.Val2284=)
c.6912A>G (p.Val2304=)
 ClinVar gnomAD v4
17g.31338769A>TCA499234358NF1c.6867A>T (p.Val2289=)
c.1449A>T (p.Val483=)
n.2707A>T
c.1041A>T (p.Val347=)
n.3530A>T
c.6915A>T (p.Val2305=)
c.6885A>T (p.Val2295=)
c.6822A>T (p.Val2274=)
c.5820A>T (p.Val1940=)
c.268A>T
c.7021A>T (n.7021A>T)
c.64+889A>T
n.299A>T
c.6876A>T (p.Val2292=)
c.6852A>T (p.Val2284=)
c.6912A>T (p.Val2304=)
 dbSNP
17g.31338770dupCA2697559629NF1c.6868dup (p.Ile2290AsnfsTer11)
c.1450dup (p.Ile484AsnfsTer11)
n.2708dup
c.1042dup (p.Ile348AsnfsTer11)
n.3531dup
c.6916dup (p.Ile2306AsnfsTer11)
c.6886dup (p.Ile2296AsnfsTer11)
c.6823dup (p.Ile2275AsnfsTer11)
c.5821dup (p.Ile1941AsnfsTer11)
c.269dup
c.7022dup (n.7022dup)
c.64+890dup
n.300dup
c.6877dup (p.Ile2293AsnfsTer11)
c.6853dup (p.Ile2285AsnfsTer11)
c.6913dup (p.Ile2305AsnfsTer11)
 ClinVar
17g.31338770A>CCA399014382NF1c.6868A>C (p.Ile2290Leu)
c.1450A>C (p.Ile484Leu)
n.2708A>C
c.1042A>C (p.Ile348Leu)
n.3531A>C
c.6916A>C (p.Ile2306Leu)
c.6886A>C (p.Ile2296Leu)
c.6823A>C (p.Ile2275Leu)
c.5821A>C (p.Ile1941Leu)
c.269A>C
c.7022A>C (n.7022A>C)
c.64+890A>C
n.300A>C
c.6877A>C (p.Ile2293Leu)
c.6853A>C (p.Ile2285Leu)
c.6913A>C (p.Ile2305Leu)
17g.31338770A>GCA399014383NF1c.6868A>G (p.Ile2290Val)
c.1450A>G (p.Ile484Val)
n.2708A>G
c.1042A>G (p.Ile348Val)
n.3531A>G
c.6916A>G (p.Ile2306Val)
c.6886A>G (p.Ile2296Val)
c.6823A>G (p.Ile2275Val)
c.5821A>G (p.Ile1941Val)
c.269A>G
c.7022A>G (n.7022A>G)
c.64+890A>G
n.300A>G
c.6877A>G (p.Ile2293Val)
c.6853A>G (p.Ile2285Val)
c.6913A>G (p.Ile2305Val)
17g.31338770A>TCA399014384NF1c.6868A>T (p.Ile2290Leu)
c.1450A>T (p.Ile484Leu)
n.2708A>T
c.1042A>T (p.Ile348Leu)
n.3531A>T
c.6916A>T (p.Ile2306Leu)
c.6886A>T (p.Ile2296Leu)
c.6823A>T (p.Ile2275Leu)
c.5821A>T (p.Ile1941Leu)
c.269A>T
c.7022A>T (n.7022A>T)
c.64+890A>T
n.300A>T
c.6877A>T (p.Ile2293Leu)
c.6853A>T (p.Ile2285Leu)
c.6913A>T (p.Ile2305Leu)
17g.31338771T>ACA399014385NF1c.6869T>A (p.Ile2290Lys)
c.1451T>A (p.Ile484Lys)
n.2709T>A
c.1043T>A (p.Ile348Lys)
n.3532T>A
c.6917T>A (p.Ile2306Lys)
c.6887T>A (p.Ile2296Lys)
c.6824T>A (p.Ile2275Lys)
c.5822T>A (p.Ile1941Lys)
c.270T>A
c.7023T>A (n.7023T>A)
c.64+891T>A
n.301T>A
c.6878T>A (p.Ile2293Lys)
c.6854T>A (p.Ile2285Lys)
c.6914T>A (p.Ile2305Lys)
 dbSNP
17g.31338771T>CCA399014386NF1c.6869T>C (p.Ile2290Thr)
c.1451T>C (p.Ile484Thr)
n.2709T>C
c.1043T>C (p.Ile348Thr)
n.3532T>C
c.6917T>C (p.Ile2306Thr)
c.6887T>C (p.Ile2296Thr)
c.6824T>C (p.Ile2275Thr)
c.5822T>C (p.Ile1941Thr)
c.270T>C
c.7023T>C (n.7023T>C)
c.64+891T>C
n.301T>C
c.6878T>C (p.Ile2293Thr)
c.6854T>C (p.Ile2285Thr)
c.6914T>C (p.Ile2305Thr)
 ClinVar dbSNP gnomAD v4
17g.31338771T>GCA399014387NF1c.6869T>G (p.Ile2290Arg)
c.1451T>G (p.Ile484Arg)
n.2709T>G
c.1043T>G (p.Ile348Arg)
n.3532T>G
c.6917T>G (p.Ile2306Arg)
c.6887T>G (p.Ile2296Arg)
c.6824T>G (p.Ile2275Arg)
c.5822T>G (p.Ile1941Arg)
c.270T>G
c.7023T>G (n.7023T>G)
c.64+891T>G
n.301T>G
c.6878T>G (p.Ile2293Arg)
c.6854T>G (p.Ile2285Arg)
c.6914T>G (p.Ile2305Arg)
17g.31338771T=CA2255603151NF1c.6869T= (p.Ile2290=)
c.1451T= (p.Ile484=)
n.2709T=
c.1043T= (p.Ile348=)
n.3532T=
c.6917T= (p.Ile2306=)
c.6887T= (p.Ile2296=)
c.6824T= (p.Ile2275=)
c.5822T= (p.Ile1941=)
c.270T=
c.7023T= (n.7023T=)
c.64+891T=
n.301T=
c.6878T= (p.Ile2293=)
c.6854T= (p.Ile2285=)
c.6914T= (p.Ile2305=)
17g.31338772A>CCA499234359NF1c.6870A>C (p.Ile2290=)
c.1452A>C (p.Ile484=)
n.2710A>C
c.1044A>C (p.Ile348=)
n.3533A>C
c.6918A>C (p.Ile2306=)
c.6888A>C (p.Ile2296=)
c.6825A>C (p.Ile2275=)
c.5823A>C (p.Ile1941=)
c.271A>C
c.7024A>C (n.7024A>C)
c.64+892A>C
n.302A>C
c.6879A>C (p.Ile2293=)
c.6855A>C (p.Ile2285=)
c.6915A>C (p.Ile2305=)
17g.31338772A>GCA399014388NF1c.6870A>G (p.Ile2290Met)
c.1452A>G (p.Ile484Met)
n.2710A>G
c.1044A>G (p.Ile348Met)
n.3533A>G
c.6918A>G (p.Ile2306Met)
c.6888A>G (p.Ile2296Met)
c.6825A>G (p.Ile2275Met)
c.5823A>G (p.Ile1941Met)
c.271A>G
c.7024A>G (n.7024A>G)
c.64+892A>G
n.302A>G
c.6879A>G (p.Ile2293Met)
c.6855A>G (p.Ile2285Met)
c.6915A>G (p.Ile2305Met)
 dbSNP
17g.31338772A>TCA499234360NF1c.6870A>T (p.Ile2290=)
c.1452A>T (p.Ile484=)
n.2710A>T
c.1044A>T (p.Ile348=)
n.3533A>T
c.6918A>T (p.Ile2306=)
c.6888A>T (p.Ile2296=)
c.6825A>T (p.Ile2275=)
c.5823A>T (p.Ile1941=)
c.271A>T
c.7024A>T (n.7024A>T)
c.64+892A>T
n.302A>T
c.6879A>T (p.Ile2293=)
c.6855A>T (p.Ile2285=)
c.6915A>T (p.Ile2305=)
17g.31338773G>ACA399014389NF1c.6871G>A (p.Ala2291Thr)
c.1453G>A (p.Ala485Thr)
n.2711G>A
c.1045G>A (p.Ala349Thr)
n.3534G>A
c.6919G>A (p.Ala2307Thr)
c.6889G>A (p.Ala2297Thr)
c.6826G>A (p.Ala2276Thr)
c.5824G>A (p.Ala1942Thr)
c.272G>A
c.7025G>A (n.7025G>A)
c.64+893G>A
n.303G>A
c.6880G>A (p.Ala2294Thr)
c.6856G>A (p.Ala2286Thr)
c.6916G>A (p.Ala2306Thr)
 ClinVar dbSNP
17g.31338773G>CCA399014390NF1c.6871G>C (p.Ala2291Pro)
c.1453G>C (p.Ala485Pro)
n.2711G>C
c.1045G>C (p.Ala349Pro)
n.3534G>C
c.6919G>C (p.Ala2307Pro)
c.6889G>C (p.Ala2297Pro)
c.6826G>C (p.Ala2276Pro)
c.5824G>C (p.Ala1942Pro)
c.272G>C
c.7025G>C (n.7025G>C)
c.64+893G>C
n.303G>C
c.6880G>C (p.Ala2294Pro)
c.6856G>C (p.Ala2286Pro)
c.6916G>C (p.Ala2306Pro)
 dbSNP
17g.31338773G>TCA399014391NF1c.6871G>T (p.Ala2291Ser)
c.1453G>T (p.Ala485Ser)
n.2711G>T
c.1045G>T (p.Ala349Ser)
n.3534G>T
c.6919G>T (p.Ala2307Ser)
c.6889G>T (p.Ala2297Ser)
c.6826G>T (p.Ala2276Ser)
c.5824G>T (p.Ala1942Ser)
c.272G>T
c.7025G>T (n.7025G>T)
c.64+893G>T
n.303G>T
c.6880G>T (p.Ala2294Ser)
c.6856G>T (p.Ala2286Ser)
c.6916G>T (p.Ala2306Ser)
 dbSNP COSMIC COSMIC COSMIC
17g.31338774C>ACA399014394NF1c.6872C>A (p.Ala2291Glu)
c.1454C>A (p.Ala485Glu)
n.2712C>A
c.1046C>A (p.Ala349Glu)
n.3535C>A
c.6920C>A (p.Ala2307Glu)
c.6890C>A (p.Ala2297Glu)
c.6827C>A (p.Ala2276Glu)
c.5825C>A (p.Ala1942Glu)
c.273C>A
c.7026C>A (n.7026C>A)
c.64+894C>A
n.304C>A
c.6881C>A (p.Ala2294Glu)
c.6857C>A (p.Ala2286Glu)
c.6917C>A (p.Ala2306Glu)
 dbSNP
17g.31338774C=CA2255603152NF1c.6872C= (p.Ala2291=)
c.1454C= (p.Ala485=)
n.2712C=
c.1046C= (p.Ala349=)
n.3535C=
c.6920C= (p.Ala2307=)
c.6890C= (p.Ala2297=)
c.6827C= (p.Ala2276=)
c.5825C= (p.Ala1942=)
c.273C=
c.7026C= (n.7026C=)
c.64+894C=
n.304C=
c.6881C= (p.Ala2294=)
c.6857C= (p.Ala2286=)
c.6917C= (p.Ala2306=)
17g.31338774C>GCA399014393NF1c.6872C>G (p.Ala2291Gly)
c.1454C>G (p.Ala485Gly)
n.2712C>G
c.1046C>G (p.Ala349Gly)
n.3535C>G
c.6920C>G (p.Ala2307Gly)
c.6890C>G (p.Ala2297Gly)
c.6827C>G (p.Ala2276Gly)
c.5825C>G (p.Ala1942Gly)
c.273C>G
c.7026C>G (n.7026C>G)
c.64+894C>G
n.304C>G
c.6881C>G (p.Ala2294Gly)
c.6857C>G (p.Ala2286Gly)
c.6917C>G (p.Ala2306Gly)
 ClinVar dbSNP
17g.31338774C>TCA399014392NF1c.6872C>T (p.Ala2291Val)
c.1454C>T (p.Ala485Val)
n.2712C>T
c.1046C>T (p.Ala349Val)
n.3535C>T
c.6920C>T (p.Ala2307Val)
c.6890C>T (p.Ala2297Val)
c.6827C>T (p.Ala2276Val)
c.5825C>T (p.Ala1942Val)
c.273C>T
c.7026C>T (n.7026C>T)
c.64+894C>T
n.304C>T
c.6881C>T (p.Ala2294Val)
c.6857C>T (p.Ala2286Val)
c.6917C>T (p.Ala2306Val)
 dbSNP
17g.31338775_31338776delCA2695225188NF1c.6873_6874del (p.Leu2292AsnfsTer8)
c.1455_1456del (p.Leu486AsnfsTer8)
n.2713_2714del
c.1047_1048del (p.Leu350AsnfsTer8)
n.3536_3537del
c.6921_6922del (p.Leu2308AsnfsTer8)
c.6891_6892del (p.Leu2298AsnfsTer8)
c.6828_6829del (p.Leu2277AsnfsTer8)
c.5826_5827del (p.Leu1943AsnfsTer8)
c.274_275del
c.7027_7028del (n.7027_7028del)
c.64+895_64+896del
n.305_306del
c.6882_6883del (p.Leu2295AsnfsTer8)
c.6858_6859del (p.Leu2287AsnfsTer8)
c.6918_6919del (p.Leu2307AsnfsTer8)
17g.31338775A=CA2255603153NF1c.6873A= (p.Ala2291=)
c.1455A= (p.Ala485=)
n.2713A=
c.1047A= (p.Ala349=)
n.3536A=
c.6921A= (p.Ala2307=)
c.6891A= (p.Ala2297=)
c.6828A= (p.Ala2276=)
c.5826A= (p.Ala1942=)
c.274A=
c.7027A= (n.7027A=)
c.64+895A=
n.305A=
c.6882A= (p.Ala2294=)
c.6858A= (p.Ala2286=)
c.6918A= (p.Ala2306=)
17g.31338775A>CCA499234361NF1c.6873A>C (p.Ala2291=)
c.1455A>C (p.Ala485=)
n.2713A>C
c.1047A>C (p.Ala349=)
n.3536A>C
c.6921A>C (p.Ala2307=)
c.6891A>C (p.Ala2297=)
c.6828A>C (p.Ala2276=)
c.5826A>C (p.Ala1942=)
c.274A>C
c.7027A>C (n.7027A>C)
c.64+895A>C
n.305A>C
c.6882A>C (p.Ala2294=)
c.6858A>C (p.Ala2286=)
c.6918A>C (p.Ala2306=)
17g.31338775A>GCA8487446NF1c.6873A>G (p.Ala2291=)
c.1455A>G (p.Ala485=)
n.2713A>G
c.1047A>G (p.Ala349=)
n.3536A>G
c.6921A>G (p.Ala2307=)
c.6891A>G (p.Ala2297=)
c.6828A>G (p.Ala2276=)
c.5826A>G (p.Ala1942=)
c.274A>G
c.7027A>G (n.7027A>G)
c.64+895A>G
n.305A>G
c.6882A>G (p.Ala2294=)
c.6858A>G (p.Ala2286=)
c.6918A>G (p.Ala2306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338775A>TCA499234362NF1c.6873A>T (p.Ala2291=)
c.1455A>T (p.Ala485=)
n.2713A>T
c.1047A>T (p.Ala349=)
n.3536A>T
c.6921A>T (p.Ala2307=)
c.6891A>T (p.Ala2297=)
c.6828A>T (p.Ala2276=)
c.5826A>T (p.Ala1942=)
c.274A>T
c.7027A>T (n.7027A>T)
c.64+895A>T
n.305A>T
c.6882A>T (p.Ala2294=)
c.6858A>T (p.Ala2286=)
c.6918A>T (p.Ala2306=)
17g.31338776delCA2695225189NF1c.6874del (p.Leu2292Ter)
c.1456del (p.Leu486Ter)
n.2714del
c.1048del (p.Leu350Ter)
n.3537del
c.6922del (p.Leu2308Ter)
c.6892del (p.Leu2298Ter)
c.6829del (p.Leu2277Ter)
c.5827del (p.Leu1943Ter)
c.275del
c.7028del (n.7028del)
c.64+896del
n.306del
c.6883del (p.Leu2295Ter)
c.6859del (p.Leu2287Ter)
c.6919del (p.Leu2307Ter)
17g.31338776C>ACA399014395NF1c.6874C>A (p.Leu2292Ile)
c.1456C>A (p.Leu486Ile)
n.2714C>A
c.1048C>A (p.Leu350Ile)
n.3537C>A
c.6922C>A (p.Leu2308Ile)
c.6892C>A (p.Leu2298Ile)
c.6829C>A (p.Leu2277Ile)
c.5827C>A (p.Leu1943Ile)
c.275C>A
c.7028C>A (n.7028C>A)
c.64+896C>A
n.306C>A
c.6883C>A (p.Leu2295Ile)
c.6859C>A (p.Leu2287Ile)
c.6919C>A (p.Leu2307Ile)
 ClinVar dbSNP
17g.31338776C=CA2255603154NF1c.6874C= (p.Leu2292=)
c.1456C= (p.Leu486=)
n.2714C=
c.1048C= (p.Leu350=)
n.3537C=
c.6922C= (p.Leu2308=)
c.6892C= (p.Leu2298=)
c.6829C= (p.Leu2277=)
c.5827C= (p.Leu1943=)
c.275C=
c.7028C= (n.7028C=)
c.64+896C=
n.306C=
c.6883C= (p.Leu2295=)
c.6859C= (p.Leu2287=)
c.6919C= (p.Leu2307=)
17g.31338776C>GCA399014396NF1c.6874C>G (p.Leu2292Val)
c.1456C>G (p.Leu486Val)
n.2714C>G
c.1048C>G (p.Leu350Val)
n.3537C>G
c.6922C>G (p.Leu2308Val)
c.6892C>G (p.Leu2298Val)
c.6829C>G (p.Leu2277Val)
c.5827C>G (p.Leu1943Val)
c.275C>G
c.7028C>G (n.7028C>G)
c.64+896C>G
n.306C>G
c.6883C>G (p.Leu2295Val)
c.6859C>G (p.Leu2287Val)
c.6919C>G (p.Leu2307Val)
 dbSNP
17g.31338776C>TCA499234363NF1c.6874C>T (p.Leu2292=)
c.1456C>T (p.Leu486=)
n.2714C>T
c.1048C>T (p.Leu350=)
n.3537C>T
c.6922C>T (p.Leu2308=)
c.6892C>T (p.Leu2298=)
c.6829C>T (p.Leu2277=)
c.5827C>T (p.Leu1943=)
c.275C>T
c.7028C>T (n.7028C>T)
c.64+896C>T
n.306C>T
c.6883C>T (p.Leu2295=)
c.6859C>T (p.Leu2287=)
c.6919C>T (p.Leu2307=)
 ClinVar dbSNP
17g.31338776dupCA916080689NF1c.6874dup (p.Leu2292ProfsTer9)
c.1456dup (p.Leu486ProfsTer9)
n.2714dup
c.1048dup (p.Leu350ProfsTer9)
n.3537dup
c.6922dup (p.Leu2308ProfsTer9)
c.6892dup (p.Leu2298ProfsTer9)
c.6829dup (p.Leu2277ProfsTer9)
c.5827dup (p.Leu1943ProfsTer9)
c.275dup
c.7028dup (n.7028dup)
c.64+896dup
n.306dup
c.6883dup (p.Leu2295ProfsTer9)
c.6859dup (p.Leu2287ProfsTer9)
c.6919dup (p.Leu2307ProfsTer9)
 ClinVar dbSNP
17g.31338777T>ACA399014397NF1c.6875T>A (p.Leu2292Gln)
c.1457T>A (p.Leu486Gln)
n.2715T>A
c.1049T>A (p.Leu350Gln)
n.3538T>A
c.6923T>A (p.Leu2308Gln)
c.6893T>A (p.Leu2298Gln)
c.6830T>A (p.Leu2277Gln)
c.5828T>A (p.Leu1943Gln)
c.276T>A
c.7029T>A (n.7029T>A)
c.64+897T>A
n.307T>A
c.6884T>A (p.Leu2295Gln)
c.6860T>A (p.Leu2287Gln)
c.6920T>A (p.Leu2307Gln)
17g.31338777T>CCA399014398NF1c.6875T>C (p.Leu2292Pro)
c.1457T>C (p.Leu486Pro)
n.2715T>C
c.1049T>C (p.Leu350Pro)
n.3538T>C
c.6923T>C (p.Leu2308Pro)
c.6893T>C (p.Leu2298Pro)
c.6830T>C (p.Leu2277Pro)
c.5828T>C (p.Leu1943Pro)
c.276T>C
c.7029T>C (n.7029T>C)
c.64+897T>C
n.307T>C
c.6884T>C (p.Leu2295Pro)
c.6860T>C (p.Leu2287Pro)
c.6920T>C (p.Leu2307Pro)
 ClinVar dbSNP gnomAD v4
17g.31338777T>GCA399014399NF1c.6875T>G (p.Leu2292Arg)
c.1457T>G (p.Leu486Arg)
n.2715T>G
c.1049T>G (p.Leu350Arg)
n.3538T>G
c.6923T>G (p.Leu2308Arg)
c.6893T>G (p.Leu2298Arg)
c.6830T>G (p.Leu2277Arg)
c.5828T>G (p.Leu1943Arg)
c.276T>G
c.7029T>G (n.7029T>G)
c.64+897T>G
n.307T>G
c.6884T>G (p.Leu2295Arg)
c.6860T>G (p.Leu2287Arg)
c.6920T>G (p.Leu2307Arg)
 gnomAD v4
17g.31338777T=CA2255603155NF1c.6875T= (p.Leu2292=)
c.1457T= (p.Leu486=)
n.2715T=
c.1049T= (p.Leu350=)
n.3538T=
c.6923T= (p.Leu2308=)
c.6893T= (p.Leu2298=)
c.6830T= (p.Leu2277=)
c.5828T= (p.Leu1943=)
c.276T=
c.7029T= (n.7029T=)
c.64+897T=
n.307T=
c.6884T= (p.Leu2295=)
c.6860T= (p.Leu2287=)
c.6920T= (p.Leu2307=)
17g.31338778A>CCA499234364NF1c.6876A>C (p.Leu2292=)
c.1458A>C (p.Leu486=)
n.2716A>C
c.1050A>C (p.Leu350=)
n.3539A>C
c.6924A>C (p.Leu2308=)
c.6894A>C (p.Leu2298=)
c.6831A>C (p.Leu2277=)
c.5829A>C (p.Leu1943=)
c.277A>C
c.7030A>C (n.7030A>C)
c.64+898A>C
n.308A>C
c.6885A>C (p.Leu2295=)
c.6861A>C (p.Leu2287=)
c.6921A>C (p.Leu2307=)
17g.31338778A>GCA499234365NF1c.6876A>G (p.Leu2292=)
c.1458A>G (p.Leu486=)
n.2716A>G
c.1050A>G (p.Leu350=)
n.3539A>G
c.6924A>G (p.Leu2308=)
c.6894A>G (p.Leu2298=)
c.6831A>G (p.Leu2277=)
c.5829A>G (p.Leu1943=)
c.277A>G
c.7030A>G (n.7030A>G)
c.64+898A>G
n.308A>G
c.6885A>G (p.Leu2295=)
c.6861A>G (p.Leu2287=)
c.6921A>G (p.Leu2307=)
17g.31338778A>TCA499234366NF1c.6876A>T (p.Leu2292=)
c.1458A>T (p.Leu486=)
n.2716A>T
c.1050A>T (p.Leu350=)
n.3539A>T
c.6924A>T (p.Leu2308=)
c.6894A>T (p.Leu2298=)
c.6831A>T (p.Leu2277=)
c.5829A>T (p.Leu1943=)
c.277A>T
c.7030A>T (n.7030A>T)
c.64+898A>T
n.308A>T
c.6885A>T (p.Leu2295=)
c.6861A>T (p.Leu2287=)
c.6921A>T (p.Leu2307=)
17g.31338779dupCA2576223760NF1c.6877dup (p.Thr2293AsnfsTer8)
c.1459dup (p.Thr487AsnfsTer8)
n.2717dup
c.1051dup (p.Thr351AsnfsTer8)
n.3540dup
c.6925dup (p.Thr2309AsnfsTer8)
c.6895dup (p.Thr2299AsnfsTer8)
c.6832dup (p.Thr2278AsnfsTer8)
c.5830dup (p.Thr1944AsnfsTer8)
c.278dup
c.7031dup (n.7031dup)
c.64+899dup
n.309dup
c.6886dup (p.Thr2296AsnfsTer8)
c.6862dup (p.Thr2288AsnfsTer8)
c.6922dup (p.Thr2308AsnfsTer8)
17g.31338779delCA2580093170NF1c.6877del (p.Thr2293ProfsTer20)
c.1459del (p.Thr487ProfsTer20)
n.2717del
c.1051del (p.Thr351ProfsTer20)
n.3540del
c.6925del (p.Thr2309ProfsTer20)
c.6895del (p.Thr2299ProfsTer20)
c.6832del (p.Thr2278ProfsTer20)
c.5830del (p.Thr1944ProfsTer20)
c.278del
c.7031del (n.7031del)
c.64+899del
n.309del
c.6886del (p.Thr2296ProfsTer20)
c.6862del (p.Thr2288ProfsTer20)
c.6922del (p.Thr2308ProfsTer20)
 ClinVar
17g.31338779A>CCA399014402NF1c.6877A>C (p.Thr2293Pro)
c.1459A>C (p.Thr487Pro)
n.2717A>C
c.1051A>C (p.Thr351Pro)
n.3540A>C
c.6925A>C (p.Thr2309Pro)
c.6895A>C (p.Thr2299Pro)
c.6832A>C (p.Thr2278Pro)
c.5830A>C (p.Thr1944Pro)
c.278A>C
c.7031A>C (n.7031A>C)
c.64+899A>C
n.309A>C
c.6886A>C (p.Thr2296Pro)
c.6862A>C (p.Thr2288Pro)
c.6922A>C (p.Thr2308Pro)
17g.31338779A>GCA399014401NF1c.6877A>G (p.Thr2293Ala)
c.1459A>G (p.Thr487Ala)
n.2717A>G
c.1051A>G (p.Thr351Ala)
n.3540A>G
c.6925A>G (p.Thr2309Ala)
c.6895A>G (p.Thr2299Ala)
c.6832A>G (p.Thr2278Ala)
c.5830A>G (p.Thr1944Ala)
c.278A>G
c.7031A>G (n.7031A>G)
c.64+899A>G
n.309A>G
c.6886A>G (p.Thr2296Ala)
c.6862A>G (p.Thr2288Ala)
c.6922A>G (p.Thr2308Ala)
17g.31338779A>TCA399014400NF1c.6877A>T (p.Thr2293Ser)
c.1459A>T (p.Thr487Ser)
n.2717A>T
c.1051A>T (p.Thr351Ser)
n.3540A>T
c.6925A>T (p.Thr2309Ser)
c.6895A>T (p.Thr2299Ser)
c.6832A>T (p.Thr2278Ser)
c.5830A>T (p.Thr1944Ser)
c.278A>T
c.7031A>T (n.7031A>T)
c.64+899A>T
n.309A>T
c.6886A>T (p.Thr2296Ser)
c.6862A>T (p.Thr2288Ser)
c.6922A>T (p.Thr2308Ser)
17g.31338780C>ACA399014403NF1c.6878C>A (p.Thr2293Asn)
c.1460C>A (p.Thr487Asn)
n.2718C>A
c.1052C>A (p.Thr351Asn)
n.3541C>A
c.6926C>A (p.Thr2309Asn)
c.6896C>A (p.Thr2299Asn)
c.6833C>A (p.Thr2278Asn)
c.5831C>A (p.Thr1944Asn)
c.279C>A
c.7032C>A (n.7032C>A)
c.64+900C>A
n.310C>A
c.6887C>A (p.Thr2296Asn)
c.6863C>A (p.Thr2288Asn)
c.6923C>A (p.Thr2308Asn)
 ClinVar dbSNP
17g.31338780C>GCA399014404NF1c.6878C>G (p.Thr2293Ser)
c.1460C>G (p.Thr487Ser)
n.2718C>G
c.1052C>G (p.Thr351Ser)
n.3541C>G
c.6926C>G (p.Thr2309Ser)
c.6896C>G (p.Thr2299Ser)
c.6833C>G (p.Thr2278Ser)
c.5831C>G (p.Thr1944Ser)
c.279C>G
c.7032C>G (n.7032C>G)
c.64+900C>G
n.310C>G
c.6887C>G (p.Thr2296Ser)
c.6863C>G (p.Thr2288Ser)
c.6923C>G (p.Thr2308Ser)
 dbSNP
17g.31338780C>TCA399014405NF1c.6878C>T (p.Thr2293Ile)
c.1460C>T (p.Thr487Ile)
n.2718C>T
c.1052C>T (p.Thr351Ile)
n.3541C>T
c.6926C>T (p.Thr2309Ile)
c.6896C>T (p.Thr2299Ile)
c.6833C>T (p.Thr2278Ile)
c.5831C>T (p.Thr1944Ile)
c.279C>T
c.7032C>T (n.7032C>T)
c.64+900C>T
n.310C>T
c.6887C>T (p.Thr2296Ile)
c.6863C>T (p.Thr2288Ile)
c.6923C>T (p.Thr2308Ile)
 ClinVar
17g.31338781delCA2573153880NF1c.6879del (p.Lys2294AsnfsTer19)
c.1461del (p.Lys488AsnfsTer19)
n.2719del
c.1053del (p.Lys352AsnfsTer19)
n.3542del
c.6927del (p.Lys2310AsnfsTer19)
c.6897del (p.Lys2300AsnfsTer19)
c.6834del (p.Lys2279AsnfsTer19)
c.5832del (p.Lys1945AsnfsTer19)
c.280del
c.7033del (n.7033del)
c.64+901del
n.311del
c.6888del (p.Lys2297AsnfsTer19)
c.6864del (p.Lys2289AsnfsTer19)
c.6924del (p.Lys2309AsnfsTer19)
 ClinVar
17g.31338781C>ACA499234368NF1c.6879C>A (p.Thr2293=)
c.1461C>A (p.Thr487=)
n.2719C>A
c.1053C>A (p.Thr351=)
n.3542C>A
c.6927C>A (p.Thr2309=)
c.6897C>A (p.Thr2299=)
c.6834C>A (p.Thr2278=)
c.5832C>A (p.Thr1944=)
c.280C>A
c.7033C>A (n.7033C>A)
c.64+901C>A
n.311C>A
c.6888C>A (p.Thr2296=)
c.6864C>A (p.Thr2288=)
c.6924C>A (p.Thr2308=)
 dbSNP
17g.31338781C=CA2255603156NF1c.6879C= (p.Thr2293=)
c.1461C= (p.Thr487=)
n.2719C=
c.1053C= (p.Thr351=)
n.3542C=
c.6927C= (p.Thr2309=)
c.6897C= (p.Thr2299=)
c.6834C= (p.Thr2278=)
c.5832C= (p.Thr1944=)
c.280C=
c.7033C= (n.7033C=)
c.64+901C=
n.311C=
c.6888C= (p.Thr2296=)
c.6864C= (p.Thr2288=)
c.6924C= (p.Thr2308=)
17g.31338781C>GCA499234369NF1c.6879C>G (p.Thr2293=)
c.1461C>G (p.Thr487=)
n.2719C>G
c.1053C>G (p.Thr351=)
n.3542C>G
c.6927C>G (p.Thr2309=)
c.6897C>G (p.Thr2299=)
c.6834C>G (p.Thr2278=)
c.5832C>G (p.Thr1944=)
c.280C>G
c.7033C>G (n.7033C>G)
c.64+901C>G
n.311C>G
c.6888C>G (p.Thr2296=)
c.6864C>G (p.Thr2288=)
c.6924C>G (p.Thr2308=)
 ClinVar dbSNP gnomAD v4
17g.31338781C>TCA499234367NF1c.6879C>T (p.Thr2293=)
c.1461C>T (p.Thr487=)
n.2719C>T
c.1053C>T (p.Thr351=)
n.3542C>T
c.6927C>T (p.Thr2309=)
c.6897C>T (p.Thr2299=)
c.6834C>T (p.Thr2278=)
c.5832C>T (p.Thr1944=)
c.280C>T
c.7033C>T (n.7033C>T)
c.64+901C>T
n.311C>T
c.6888C>T (p.Thr2296=)
c.6864C>T (p.Thr2288=)
c.6924C>T (p.Thr2308=)
 ClinVar
17g.31338782A>CCA399014406NF1c.6880A>C (p.Lys2294Gln)
c.1462A>C (p.Lys488Gln)
n.2720A>C
c.1054A>C (p.Lys352Gln)
n.3543A>C
c.6928A>C (p.Lys2310Gln)
c.6898A>C (p.Lys2300Gln)
c.6835A>C (p.Lys2279Gln)
c.5833A>C (p.Lys1945Gln)
c.281A>C
c.7034A>C (n.7034A>C)
c.64+902A>C
n.312A>C
c.6889A>C (p.Lys2297Gln)
c.6865A>C (p.Lys2289Gln)
c.6925A>C (p.Lys2309Gln)
17g.31338782A>GCA399014407NF1c.6880A>G (p.Lys2294Glu)
c.1462A>G (p.Lys488Glu)
n.2720A>G
c.1054A>G (p.Lys352Glu)
n.3543A>G
c.6928A>G (p.Lys2310Glu)
c.6898A>G (p.Lys2300Glu)
c.6835A>G (p.Lys2279Glu)
c.5833A>G (p.Lys1945Glu)
c.281A>G
c.7034A>G (n.7034A>G)
c.64+902A>G
n.312A>G
c.6889A>G (p.Lys2297Glu)
c.6865A>G (p.Lys2289Glu)
c.6925A>G (p.Lys2309Glu)
 ClinVar
17g.31338782A>TCA399014408NF1c.6880A>T (p.Lys2294Ter)
c.1462A>T (p.Lys488Ter)
n.2720A>T
c.1054A>T (p.Lys352Ter)
n.3543A>T
c.6928A>T (p.Lys2310Ter)
c.6898A>T (p.Lys2300Ter)
c.6835A>T (p.Lys2279Ter)
c.5833A>T (p.Lys1945Ter)
c.281A>T
c.7034A>T (n.7034A>T)
c.64+902A>T
n.312A>T
c.6889A>T (p.Lys2297Ter)
c.6865A>T (p.Lys2289Ter)
c.6925A>T (p.Lys2309Ter)
 ClinVar
17g.31338784dupCA658658593NF1c.6882dup (p.Leu2295IlefsTer6)
c.1464dup (p.Leu489IlefsTer6)
n.2722dup
c.1056dup (p.Leu353IlefsTer6)
n.3545dup
c.6930dup (p.Leu2311IlefsTer6)
c.6900dup (p.Leu2301IlefsTer6)
c.6837dup (p.Leu2280IlefsTer6)
c.5835dup (p.Leu1946IlefsTer6)
c.283dup
c.7036dup (n.7036dup)
c.64+904dup
n.314dup
c.6891dup (p.Leu2298IlefsTer6)
c.6867dup (p.Leu2290IlefsTer6)
c.6927dup (p.Leu2310IlefsTer6)
 ClinVar dbSNP
17g.31338783A>CCA399014409NF1c.6881A>C (p.Lys2294Thr)
c.1463A>C (p.Lys488Thr)
n.2721A>C
c.1055A>C (p.Lys352Thr)
n.3544A>C
c.6929A>C (p.Lys2310Thr)
c.6899A>C (p.Lys2300Thr)
c.6836A>C (p.Lys2279Thr)
c.5834A>C (p.Lys1945Thr)
c.282A>C
c.7035A>C (n.7035A>C)
c.64+903A>C
n.313A>C
c.6890A>C (p.Lys2297Thr)
c.6866A>C (p.Lys2289Thr)
c.6926A>C (p.Lys2309Thr)
17g.31338783A>GCA399014411NF1c.6881A>G (p.Lys2294Arg)
c.1463A>G (p.Lys488Arg)
n.2721A>G
c.1055A>G (p.Lys352Arg)
n.3544A>G
c.6929A>G (p.Lys2310Arg)
c.6899A>G (p.Lys2300Arg)
c.6836A>G (p.Lys2279Arg)
c.5834A>G (p.Lys1945Arg)
c.282A>G
c.7035A>G (n.7035A>G)
c.64+903A>G
n.313A>G
c.6890A>G (p.Lys2297Arg)
c.6866A>G (p.Lys2289Arg)
c.6926A>G (p.Lys2309Arg)
17g.31338783A>TCA399014410NF1c.6881A>T (p.Lys2294Ile)
c.1463A>T (p.Lys488Ile)
n.2721A>T
c.1055A>T (p.Lys352Ile)
n.3544A>T
c.6929A>T (p.Lys2310Ile)
c.6899A>T (p.Lys2300Ile)
c.6836A>T (p.Lys2279Ile)
c.5834A>T (p.Lys1945Ile)
c.282A>T
c.7035A>T (n.7035A>T)
c.64+903A>T
n.313A>T
c.6890A>T (p.Lys2297Ile)
c.6866A>T (p.Lys2289Ile)
c.6926A>T (p.Lys2309Ile)
17g.31338789_31338813delCA2739267437NF1c.6887_6903+8del
c.1469_1485+8del
n.2727_2751del
c.1061_1077+8del
n.3550_3566+8del
c.6935_6951+8del
c.6905_6921+8del
c.6842_6858+8del
c.5840_5856+8del
c.288_304+8del
c.7041_7057+8del
c.64+909_64+933del
n.319_335+8del
c.6896_6912+8del
c.6872_6888+8del
c.6932_6948+8del
 ClinVar
17g.31338784A=CA2255603157NF1c.6882A= (p.Lys2294=)
c.1464A= (p.Lys488=)
n.2722A=
c.1056A= (p.Lys352=)
n.3545A=
c.6930A= (p.Lys2310=)
c.6900A= (p.Lys2300=)
c.6837A= (p.Lys2279=)
c.5835A= (p.Lys1945=)
c.283A=
c.7036A= (n.7036A=)
c.64+904A=
n.314A=
c.6891A= (p.Lys2297=)
c.6867A= (p.Lys2289=)
c.6927A= (p.Lys2309=)
17g.31338784A>CCA198079NF1c.6882A>C (p.Lys2294Asn)
c.1464A>C (p.Lys488Asn)
n.2722A>C
c.1056A>C (p.Lys352Asn)
n.3545A>C
c.6930A>C (p.Lys2310Asn)
c.6900A>C (p.Lys2300Asn)
c.6837A>C (p.Lys2279Asn)
c.5835A>C (p.Lys1945Asn)
c.283A>C
c.7036A>C (n.7036A>C)
c.64+904A>C
n.314A>C
c.6891A>C (p.Lys2297Asn)
c.6867A>C (p.Lys2289Asn)
c.6927A>C (p.Lys2309Asn)
 ClinVar dbSNP
17g.31338784A>GCA499234370NF1c.6882A>G (p.Lys2294=)
c.1464A>G (p.Lys488=)
n.2722A>G
c.1056A>G (p.Lys352=)
n.3545A>G
c.6930A>G (p.Lys2310=)
c.6900A>G (p.Lys2300=)
c.6837A>G (p.Lys2279=)
c.5835A>G (p.Lys1945=)
c.283A>G
c.7036A>G (n.7036A>G)
c.64+904A>G
n.314A>G
c.6891A>G (p.Lys2297=)
c.6867A>G (p.Lys2289=)
c.6927A>G (p.Lys2309=)
 ClinVar gnomAD v4
17g.31338784A>TCA399014412NF1c.6882A>T (p.Lys2294Asn)
c.1464A>T (p.Lys488Asn)
n.2722A>T
c.1056A>T (p.Lys352Asn)
n.3545A>T
c.6930A>T (p.Lys2310Asn)
c.6900A>T (p.Lys2300Asn)
c.6837A>T (p.Lys2279Asn)
c.5835A>T (p.Lys1945Asn)
c.283A>T
c.7036A>T (n.7036A>T)
c.64+904A>T
n.314A>T
c.6891A>T (p.Lys2297Asn)
c.6867A>T (p.Lys2289Asn)
c.6927A>T (p.Lys2309Asn)
 ClinVar dbSNP
17g.31338785T>ACA399014413NF1c.6883T>A (p.Leu2295Ile)
c.1465T>A (p.Leu489Ile)
n.2723T>A
c.1057T>A (p.Leu353Ile)
n.3546T>A
c.6931T>A (p.Leu2311Ile)
c.6901T>A (p.Leu2301Ile)
c.6838T>A (p.Leu2280Ile)
c.5836T>A (p.Leu1946Ile)
c.284T>A
c.7037T>A (n.7037T>A)
c.64+905T>A
n.315T>A
c.6892T>A (p.Leu2298Ile)
c.6868T>A (p.Leu2290Ile)
c.6928T>A (p.Leu2310Ile)
 dbSNP
17g.31338785T>CCA499234371NF1c.6883T>C (p.Leu2295=)
c.1465T>C (p.Leu489=)
n.2723T>C
c.1057T>C (p.Leu353=)
n.3546T>C
c.6931T>C (p.Leu2311=)
c.6901T>C (p.Leu2301=)
c.6838T>C (p.Leu2280=)
c.5836T>C (p.Leu1946=)
c.284T>C
c.7037T>C (n.7037T>C)
c.64+905T>C
n.315T>C
c.6892T>C (p.Leu2298=)
c.6868T>C (p.Leu2290=)
c.6928T>C (p.Leu2310=)
17g.31338785T>GCA399014414NF1c.6883T>G (p.Leu2295Val)
c.1465T>G (p.Leu489Val)
n.2723T>G
c.1057T>G (p.Leu353Val)
n.3546T>G
c.6931T>G (p.Leu2311Val)
c.6901T>G (p.Leu2301Val)
c.6838T>G (p.Leu2280Val)
c.5836T>G (p.Leu1946Val)
c.284T>G
c.7037T>G (n.7037T>G)
c.64+905T>G
n.315T>G
c.6892T>G (p.Leu2298Val)
c.6868T>G (p.Leu2290Val)
c.6928T>G (p.Leu2310Val)
17g.31338785_31338786delCA2809195012NF1c.6883_6884del (p.Leu2295ThrfsTer5)
c.1465_1466del (p.Leu489ThrfsTer5)
n.2723_2724del
c.1057_1058del (p.Leu353ThrfsTer5)
n.3546_3547del
c.6931_6932del (p.Leu2311ThrfsTer5)
c.6901_6902del (p.Leu2301ThrfsTer5)
c.6838_6839del (p.Leu2280ThrfsTer5)
c.5836_5837del (p.Leu1946ThrfsTer5)
c.284_285del
c.7037_7038del (n.7037_7038del)
c.64+905_64+906del
n.315_316del
c.6892_6893del (p.Leu2298ThrfsTer5)
c.6868_6869del (p.Leu2290ThrfsTer5)
c.6928_6929del (p.Leu2310ThrfsTer5)
17g.31338786delCA2637078894NF1c.6884del (p.Leu2295TyrfsTer18)
c.1466del (p.Leu489TyrfsTer18)
n.2724del
c.1058del (p.Leu353TyrfsTer18)
n.3547del
c.6932del (p.Leu2311TyrfsTer18)
c.6902del (p.Leu2301TyrfsTer18)
c.6839del (p.Leu2280TyrfsTer18)
c.5837del (p.Leu1946TyrfsTer18)
c.285del
c.7038del (n.7038del)
c.64+906del
n.316del
c.6893del (p.Leu2298TyrfsTer18)
c.6869del (p.Leu2290TyrfsTer18)
c.6929del (p.Leu2310TyrfsTer18)
 dbSNP gnomAD v4
17g.31338786T>ACA399014415NF1c.6884T>A (p.Leu2295Ter)
c.1466T>A (p.Leu489Ter)
n.2724T>A
c.1058T>A (p.Leu353Ter)
n.3547T>A
c.6932T>A (p.Leu2311Ter)
c.6902T>A (p.Leu2301Ter)
c.6839T>A (p.Leu2280Ter)
c.5837T>A (p.Leu1946Ter)
c.285T>A
c.7038T>A (n.7038T>A)
c.64+906T>A
n.316T>A
c.6893T>A (p.Leu2298Ter)
c.6869T>A (p.Leu2290Ter)
c.6929T>A (p.Leu2310Ter)
 ClinVar dbSNP
17g.31338786T>CCA399014416NF1c.6884T>C (p.Leu2295Ser)
c.1466T>C (p.Leu489Ser)
n.2724T>C
c.1058T>C (p.Leu353Ser)
n.3547T>C
c.6932T>C (p.Leu2311Ser)
c.6902T>C (p.Leu2301Ser)
c.6839T>C (p.Leu2280Ser)
c.5837T>C (p.Leu1946Ser)
c.285T>C
c.7038T>C (n.7038T>C)
c.64+906T>C
n.316T>C
c.6893T>C (p.Leu2298Ser)
c.6869T>C (p.Leu2290Ser)
c.6929T>C (p.Leu2310Ser)
17g.31338786T>GCA399014417NF1c.6884T>G (p.Leu2295Ter)
c.1466T>G (p.Leu489Ter)
n.2724T>G
c.1058T>G (p.Leu353Ter)
n.3547T>G
c.6932T>G (p.Leu2311Ter)
c.6902T>G (p.Leu2301Ter)
c.6839T>G (p.Leu2280Ter)
c.5837T>G (p.Leu1946Ter)
c.285T>G
c.7038T>G (n.7038T>G)
c.64+906T>G
n.316T>G
c.6893T>G (p.Leu2298Ter)
c.6869T>G (p.Leu2290Ter)
c.6929T>G (p.Leu2310Ter)
 ClinVar dbSNP
17g.31338786T=CA2255603158NF1c.6884T= (p.Leu2295=)
c.1466T= (p.Leu489=)
n.2724T=
c.1058T= (p.Leu353=)
n.3547T=
c.6932T= (p.Leu2311=)
c.6902T= (p.Leu2301=)
c.6839T= (p.Leu2280=)
c.5837T= (p.Leu1946=)
c.285T=
c.7038T= (n.7038T=)
c.64+906T=
n.316T=
c.6893T= (p.Leu2298=)
c.6869T= (p.Leu2290=)
c.6929T= (p.Leu2310=)
17g.31338786_31338788delCA2695225190NF1c.6884_6886del (p.Leu2295Ter)
c.1466_1468del (p.Leu489Ter)
n.2724_2726del
c.1058_1060del (p.Leu353Ter)
n.3547_3549del
c.6932_6934del (p.Leu2311Ter)
c.6902_6904del (p.Leu2301Ter)
c.6839_6841del (p.Leu2280Ter)
c.5837_5839del (p.Leu1946Ter)
c.285_287del
c.7038_7040del (n.7038_7040del)
c.64+906_64+908del
n.316_318del
c.6893_6895del (p.Leu2298Ter)
c.6869_6871del (p.Leu2290Ter)
c.6929_6931del (p.Leu2310Ter)
17g.31338787A=CA2255603159NF1c.6885A= (p.Leu2295=)
c.1467A= (p.Leu489=)
n.2725A=
c.1059A= (p.Leu353=)
n.3548A=
c.6933A= (p.Leu2311=)
c.6903A= (p.Leu2301=)
c.6840A= (p.Leu2280=)
c.5838A= (p.Leu1946=)
c.286A=
c.7039A= (n.7039A=)
c.64+907A=
n.317A=
c.6894A= (p.Leu2298=)
c.6870A= (p.Leu2290=)
c.6930A= (p.Leu2310=)
17g.31338787A>CCA8487447NF1c.6885A>C (p.Leu2295Phe)
c.1467A>C (p.Leu489Phe)
n.2725A>C
c.1059A>C (p.Leu353Phe)
n.3548A>C
c.6933A>C (p.Leu2311Phe)
c.6903A>C (p.Leu2301Phe)
c.6840A>C (p.Leu2280Phe)
c.5838A>C (p.Leu1946Phe)
c.286A>C
c.7039A>C (n.7039A>C)
c.64+907A>C
n.317A>C
c.6894A>C (p.Leu2298Phe)
c.6870A>C (p.Leu2290Phe)
c.6930A>C (p.Leu2310Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31338787A>GCA499234372NF1c.6885A>G (p.Leu2295=)
c.1467A>G (p.Leu489=)
n.2725A>G
c.1059A>G (p.Leu353=)
n.3548A>G
c.6933A>G (p.Leu2311=)
c.6903A>G (p.Leu2301=)
c.6840A>G (p.Leu2280=)
c.5838A>G (p.Leu1946=)
c.286A>G
c.7039A>G (n.7039A>G)
c.64+907A>G
n.317A>G
c.6894A>G (p.Leu2298=)
c.6870A>G (p.Leu2290=)
c.6930A>G (p.Leu2310=)
 ClinVar
17g.31338787A>TCA399014418NF1c.6885A>T (p.Leu2295Phe)
c.1467A>T (p.Leu489Phe)
n.2725A>T
c.1059A>T (p.Leu353Phe)
n.3548A>T
c.6933A>T (p.Leu2311Phe)
c.6903A>T (p.Leu2301Phe)
c.6840A>T (p.Leu2280Phe)
c.5838A>T (p.Leu1946Phe)
c.286A>T
c.7039A>T (n.7039A>T)
c.64+907A>T
n.317A>T
c.6894A>T (p.Leu2298Phe)
c.6870A>T (p.Leu2290Phe)
c.6930A>T (p.Leu2310Phe)
 dbSNP
17g.31338788delCA2695225191NF1c.6886del (p.Gln2296SerfsTer17)
c.1468del (p.Gln490SerfsTer17)
n.2726del
c.1060del (p.Gln354SerfsTer17)
n.3549del
c.6934del (p.Gln2312SerfsTer17)
c.6904del (p.Gln2302SerfsTer17)
c.6841del (p.Gln2281SerfsTer17)
c.5839del (p.Gln1947SerfsTer17)
c.287del
c.7040del (n.7040del)
c.64+908del
n.318del
c.6895del (p.Gln2299SerfsTer17)
c.6871del (p.Gln2291SerfsTer17)
c.6931del (p.Gln2311SerfsTer17)
17g.31338788C>ACA399014419NF1c.6886C>A (p.Gln2296Lys)
c.1468C>A (p.Gln490Lys)
n.2726C>A
c.1060C>A (p.Gln354Lys)
n.3549C>A
c.6934C>A (p.Gln2312Lys)
c.6904C>A (p.Gln2302Lys)
c.6841C>A (p.Gln2281Lys)
c.5839C>A (p.Gln1947Lys)
c.287C>A
c.7040C>A (n.7040C>A)
c.64+908C>A
n.318C>A
c.6895C>A (p.Gln2299Lys)
c.6871C>A (p.Gln2291Lys)
c.6931C>A (p.Gln2311Lys)
 dbSNP
17g.31338788C=CA2255603160NF1c.6886C= (p.Gln2296=)
c.1468C= (p.Gln490=)
n.2726C=
c.1060C= (p.Gln354=)
n.3549C=
c.6934C= (p.Gln2312=)
c.6904C= (p.Gln2302=)
c.6841C= (p.Gln2281=)
c.5839C= (p.Gln1947=)
c.287C=
c.7040C= (n.7040C=)
c.64+908C=
n.318C=
c.6895C= (p.Gln2299=)
c.6871C= (p.Gln2291=)
c.6931C= (p.Gln2311=)
17g.31338788C>GCA399014420NF1c.6886C>G (p.Gln2296Glu)
c.1468C>G (p.Gln490Glu)
n.2726C>G
c.1060C>G (p.Gln354Glu)
n.3549C>G
c.6934C>G (p.Gln2312Glu)
c.6904C>G (p.Gln2302Glu)
c.6841C>G (p.Gln2281Glu)
c.5839C>G (p.Gln1947Glu)
c.287C>G
c.7040C>G (n.7040C>G)
c.64+908C>G
n.318C>G
c.6895C>G (p.Gln2299Glu)
c.6871C>G (p.Gln2291Glu)
c.6931C>G (p.Gln2311Glu)
17g.31338788C>TCA16043526NF1c.6886C>T (p.Gln2296Ter)
c.1468C>T (p.Gln490Ter)
n.2726C>T
c.1060C>T (p.Gln354Ter)
n.3549C>T
c.6934C>T (p.Gln2312Ter)
c.6904C>T (p.Gln2302Ter)
c.6841C>T (p.Gln2281Ter)
c.5839C>T (p.Gln1947Ter)
c.287C>T
c.7040C>T (n.7040C>T)
c.64+908C>T
n.318C>T
c.6895C>T (p.Gln2299Ter)
c.6871C>T (p.Gln2291Ter)
c.6931C>T (p.Gln2311Ter)
 ClinVar dbSNP

Number of alleles fetched