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.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.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

Number of alleles fetched