Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31258296_31258321dupCA8486357NF1c.4156-48_4156-23dup (n.4156-48_4156-23dup)
n.280-48_280-23dup
c.165-48_165-23dup
n.819-48_819-23dup
c.4204-48_4204-23dup (n.4204-48_4204-23dup)
n.98_123dup
c.4174-48_4174-23dup (n.4174-48_4174-23dup)
c.4111-48_4111-23dup (n.4111-48_4111-23dup)
c.3109-48_3109-23dup (n.3109-48_3109-23dup)
c.690-48_690-23dup
c.627-48_627-23dup
n.2647-48_2647-23dup
c.4213-48_4213-23dup (n.4213-48_4213-23dup)
c.4165-48_4165-23dup (n.4165-48_4165-23dup)
c.4141-48_4141-23dup (n.4141-48_4141-23dup)
c.4201-48_4201-23dup (n.4201-48_4201-23dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258303_31258306delCA728050360NF1c.4156-41_4156-38del (n.4156-41_4156-38del)
n.280-41_280-38del
c.165-41_165-38del
n.819-41_819-38del
c.4204-41_4204-38del (n.4204-41_4204-38del)
n.105_108del
c.4174-41_4174-38del (n.4174-41_4174-38del)
c.4111-41_4111-38del (n.4111-41_4111-38del)
c.3109-41_3109-38del (n.3109-41_3109-38del)
c.690-41_690-38del
c.627-41_627-38del
n.2647-41_2647-38del
c.4213-41_4213-38del (n.4213-41_4213-38del)
c.4165-41_4165-38del (n.4165-41_4165-38del)
c.4141-41_4141-38del (n.4141-41_4141-38del)
c.4201-41_4201-38del (n.4201-41_4201-38del)
 dbSNP gnomAD v3 gnomAD v4
17g.31258306T>CCA982967845NF1c.4156-38T>C (n.4156-38T>C)
n.280-38T>C
c.165-38T>C
n.819-38T>C
c.4204-38T>C (n.4204-38T>C)
n.108T>C
c.4174-38T>C (n.4174-38T>C)
c.4111-38T>C (n.4111-38T>C)
c.3109-38T>C (n.3109-38T>C)
c.690-38T>C
c.627-38T>C
n.2647-38T>C
c.4213-38T>C (n.4213-38T>C)
c.4165-38T>C (n.4165-38T>C)
c.4141-38T>C (n.4141-38T>C)
c.4201-38T>C (n.4201-38T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.31258306T=CA2255573278NF1c.4156-38T= (n.4156-38T=)
n.280-38T=
c.165-38T=
n.819-38T=
c.4204-38T= (n.4204-38T=)
n.108T=
c.4174-38T= (n.4174-38T=)
c.4111-38T= (n.4111-38T=)
c.3109-38T= (n.3109-38T=)
c.690-38T=
c.627-38T=
n.2647-38T=
c.4213-38T= (n.4213-38T=)
c.4165-38T= (n.4165-38T=)
c.4141-38T= (n.4141-38T=)
c.4201-38T= (n.4201-38T=)
17g.31258307C>GCA2733595973NF1c.4156-37C>G (n.4156-37C>G)
n.280-37C>G
c.165-37C>G
n.819-37C>G
c.4204-37C>G (n.4204-37C>G)
n.109C>G
c.4174-37C>G (n.4174-37C>G)
c.4111-37C>G (n.4111-37C>G)
c.3109-37C>G (n.3109-37C>G)
c.690-37C>G
c.627-37C>G
n.2647-37C>G
c.4213-37C>G (n.4213-37C>G)
c.4165-37C>G (n.4165-37C>G)
c.4141-37C>G (n.4141-37C>G)
c.4201-37C>G (n.4201-37C>G)
 dbSNP
17g.31258307C>TCA2576223153NF1c.4156-37C>T (n.4156-37C>T)
n.280-37C>T
c.165-37C>T
n.819-37C>T
c.4204-37C>T (n.4204-37C>T)
n.109C>T
c.4174-37C>T (n.4174-37C>T)
c.4111-37C>T (n.4111-37C>T)
c.3109-37C>T (n.3109-37C>T)
c.690-37C>T
c.627-37C>T
n.2647-37C>T
c.4213-37C>T (n.4213-37C>T)
c.4165-37C>T (n.4165-37C>T)
c.4141-37C>T (n.4141-37C>T)
c.4201-37C>T (n.4201-37C>T)
 dbSNP gnomAD v4
17g.31258309A=CA2255573279NF1c.4156-35A= (n.4156-35A=)
n.280-35A=
c.165-35A=
n.819-35A=
c.4204-35A= (n.4204-35A=)
n.111A=
c.4174-35A= (n.4174-35A=)
c.4111-35A= (n.4111-35A=)
c.3109-35A= (n.3109-35A=)
c.690-35A=
c.627-35A=
n.2647-35A=
c.4213-35A= (n.4213-35A=)
c.4165-35A= (n.4165-35A=)
c.4141-35A= (n.4141-35A=)
c.4201-35A= (n.4201-35A=)
17g.31258309A>GCA982967848NF1c.4156-35A>G (n.4156-35A>G)
n.280-35A>G
c.165-35A>G
n.819-35A>G
c.4204-35A>G (n.4204-35A>G)
n.111A>G
c.4174-35A>G (n.4174-35A>G)
c.4111-35A>G (n.4111-35A>G)
c.3109-35A>G (n.3109-35A>G)
c.690-35A>G
c.627-35A>G
n.2647-35A>G
c.4213-35A>G (n.4213-35A>G)
c.4165-35A>G (n.4165-35A>G)
c.4141-35A>G (n.4141-35A>G)
c.4201-35A>G (n.4201-35A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.31258309A>TCA2733359887NF1c.4156-35A>T (n.4156-35A>T)
n.280-35A>T
c.165-35A>T
n.819-35A>T
c.4204-35A>T (n.4204-35A>T)
n.111A>T
c.4174-35A>T (n.4174-35A>T)
c.4111-35A>T (n.4111-35A>T)
c.3109-35A>T (n.3109-35A>T)
c.690-35A>T
c.627-35A>T
n.2647-35A>T
c.4213-35A>T (n.4213-35A>T)
c.4165-35A>T (n.4165-35A>T)
c.4141-35A>T (n.4141-35A>T)
c.4201-35A>T (n.4201-35A>T)
 dbSNP
17g.31258310A=CA2255573280NF1c.4156-34A= (n.4156-34A=)
n.280-34A=
c.165-34A=
n.819-34A=
c.4204-34A= (n.4204-34A=)
n.112A=
c.4174-34A= (n.4174-34A=)
c.4111-34A= (n.4111-34A=)
c.3109-34A= (n.3109-34A=)
c.690-34A=
c.627-34A=
n.2647-34A=
c.4213-34A= (n.4213-34A=)
c.4165-34A= (n.4165-34A=)
c.4141-34A= (n.4141-34A=)
c.4201-34A= (n.4201-34A=)
17g.31258310A>CCA2733219846NF1c.4156-34A>C (n.4156-34A>C)
n.280-34A>C
c.165-34A>C
n.819-34A>C
c.4204-34A>C (n.4204-34A>C)
n.112A>C
c.4174-34A>C (n.4174-34A>C)
c.4111-34A>C (n.4111-34A>C)
c.3109-34A>C (n.3109-34A>C)
c.690-34A>C
c.627-34A>C
n.2647-34A>C
c.4213-34A>C (n.4213-34A>C)
c.4165-34A>C (n.4165-34A>C)
c.4141-34A>C (n.4141-34A>C)
c.4201-34A>C (n.4201-34A>C)
 dbSNP
17g.31258310A>GCA289350457NF1c.4156-34A>G (n.4156-34A>G)
n.280-34A>G
c.165-34A>G
n.819-34A>G
c.4204-34A>G (n.4204-34A>G)
n.112A>G
c.4174-34A>G (n.4174-34A>G)
c.4111-34A>G (n.4111-34A>G)
c.3109-34A>G (n.3109-34A>G)
c.690-34A>G
c.627-34A>G
n.2647-34A>G
c.4213-34A>G (n.4213-34A>G)
c.4165-34A>G (n.4165-34A>G)
c.4141-34A>G (n.4141-34A>G)
c.4201-34A>G (n.4201-34A>G)
 dbSNP
17g.31258310A>TCA2733219845NF1c.4156-34A>T (n.4156-34A>T)
n.280-34A>T
c.165-34A>T
n.819-34A>T
c.4204-34A>T (n.4204-34A>T)
n.112A>T
c.4174-34A>T (n.4174-34A>T)
c.4111-34A>T (n.4111-34A>T)
c.3109-34A>T (n.3109-34A>T)
c.690-34A>T
c.627-34A>T
n.2647-34A>T
c.4213-34A>T (n.4213-34A>T)
c.4165-34A>T (n.4165-34A>T)
c.4141-34A>T (n.4141-34A>T)
c.4201-34A>T (n.4201-34A>T)
 dbSNP
17g.31258311C>ACA2255573282NF1c.4156-33C>A (n.4156-33C>A)
n.280-33C>A
c.165-33C>A
n.819-33C>A
c.4204-33C>A (n.4204-33C>A)
n.113C>A
c.4174-33C>A (n.4174-33C>A)
c.4111-33C>A (n.4111-33C>A)
c.3109-33C>A (n.3109-33C>A)
c.690-33C>A
c.627-33C>A
n.2647-33C>A
c.4213-33C>A (n.4213-33C>A)
c.4165-33C>A (n.4165-33C>A)
c.4141-33C>A (n.4141-33C>A)
c.4201-33C>A (n.4201-33C>A)
 dbSNP gnomAD v4
17g.31258311C=CA2255573281NF1c.4156-33C= (n.4156-33C=)
n.280-33C=
c.165-33C=
n.819-33C=
c.4204-33C= (n.4204-33C=)
n.113C=
c.4174-33C= (n.4174-33C=)
c.4111-33C= (n.4111-33C=)
c.3109-33C= (n.3109-33C=)
c.690-33C=
c.627-33C=
n.2647-33C=
c.4213-33C= (n.4213-33C=)
c.4165-33C= (n.4165-33C=)
c.4141-33C= (n.4141-33C=)
c.4201-33C= (n.4201-33C=)
17g.31258311C>GCA2733359888NF1c.4156-33C>G (n.4156-33C>G)
n.280-33C>G
c.165-33C>G
n.819-33C>G
c.4204-33C>G (n.4204-33C>G)
n.113C>G
c.4174-33C>G (n.4174-33C>G)
c.4111-33C>G (n.4111-33C>G)
c.3109-33C>G (n.3109-33C>G)
c.690-33C>G
c.627-33C>G
n.2647-33C>G
c.4213-33C>G (n.4213-33C>G)
c.4165-33C>G (n.4165-33C>G)
c.4141-33C>G (n.4141-33C>G)
c.4201-33C>G (n.4201-33C>G)
 dbSNP
17g.31258311C>TCA982967860NF1c.4156-33C>T (n.4156-33C>T)
n.280-33C>T
c.165-33C>T
n.819-33C>T
c.4204-33C>T (n.4204-33C>T)
n.113C>T
c.4174-33C>T (n.4174-33C>T)
c.4111-33C>T (n.4111-33C>T)
c.3109-33C>T (n.3109-33C>T)
c.690-33C>T
c.627-33C>T
n.2647-33C>T
c.4213-33C>T (n.4213-33C>T)
c.4165-33C>T (n.4165-33C>T)
c.4141-33C>T (n.4141-33C>T)
c.4201-33C>T (n.4201-33C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.31258312C>ACA2733359891NF1c.4156-32C>A (n.4156-32C>A)
n.280-32C>A
c.165-32C>A
n.819-32C>A
c.4204-32C>A (n.4204-32C>A)
n.114C>A
c.4174-32C>A (n.4174-32C>A)
c.4111-32C>A (n.4111-32C>A)
c.3109-32C>A (n.3109-32C>A)
c.690-32C>A
c.627-32C>A
n.2647-32C>A
c.4213-32C>A (n.4213-32C>A)
c.4165-32C>A (n.4165-32C>A)
c.4141-32C>A (n.4141-32C>A)
c.4201-32C>A (n.4201-32C>A)
 dbSNP
17g.31258312C=CA2255573284NF1c.4156-32C= (n.4156-32C=)
n.280-32C=
c.165-32C=
n.819-32C=
c.4204-32C= (n.4204-32C=)
n.114C=
c.4174-32C= (n.4174-32C=)
c.4111-32C= (n.4111-32C=)
c.3109-32C= (n.3109-32C=)
c.690-32C=
c.627-32C=
n.2647-32C=
c.4213-32C= (n.4213-32C=)
c.4165-32C= (n.4165-32C=)
c.4141-32C= (n.4141-32C=)
c.4201-32C= (n.4201-32C=)
17g.31258312C>GCA2733359892NF1c.4156-32C>G (n.4156-32C>G)
n.280-32C>G
c.165-32C>G
n.819-32C>G
c.4204-32C>G (n.4204-32C>G)
n.114C>G
c.4174-32C>G (n.4174-32C>G)
c.4111-32C>G (n.4111-32C>G)
c.3109-32C>G (n.3109-32C>G)
c.690-32C>G
c.627-32C>G
n.2647-32C>G
c.4213-32C>G (n.4213-32C>G)
c.4165-32C>G (n.4165-32C>G)
c.4141-32C>G (n.4141-32C>G)
c.4201-32C>G (n.4201-32C>G)
 dbSNP
17g.31258312C>TCA982967866NF1c.4156-32C>T (n.4156-32C>T)
n.280-32C>T
c.165-32C>T
n.819-32C>T
c.4204-32C>T (n.4204-32C>T)
n.114C>T
c.4174-32C>T (n.4174-32C>T)
c.4111-32C>T (n.4111-32C>T)
c.3109-32C>T (n.3109-32C>T)
c.690-32C>T
c.627-32C>T
n.2647-32C>T
c.4213-32C>T (n.4213-32C>T)
c.4165-32C>T (n.4165-32C>T)
c.4141-32C>T (n.4141-32C>T)
c.4201-32C>T (n.4201-32C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.31258313T>CCA2255573286NF1c.4156-31T>C (n.4156-31T>C)
n.280-31T>C
c.165-31T>C
n.819-31T>C
c.4204-31T>C (n.4204-31T>C)
n.115T>C
c.4174-31T>C (n.4174-31T>C)
c.4111-31T>C (n.4111-31T>C)
c.3109-31T>C (n.3109-31T>C)
c.690-31T>C
c.627-31T>C
n.2647-31T>C
c.4213-31T>C (n.4213-31T>C)
c.4165-31T>C (n.4165-31T>C)
c.4141-31T>C (n.4141-31T>C)
c.4201-31T>C (n.4201-31T>C)
 dbSNP
17g.31258313T>GCA2255573287NF1c.4156-31T>G (n.4156-31T>G)
n.280-31T>G
c.165-31T>G
n.819-31T>G
c.4204-31T>G (n.4204-31T>G)
n.115T>G
c.4174-31T>G (n.4174-31T>G)
c.4111-31T>G (n.4111-31T>G)
c.3109-31T>G (n.3109-31T>G)
c.690-31T>G
c.627-31T>G
n.2647-31T>G
c.4213-31T>G (n.4213-31T>G)
c.4165-31T>G (n.4165-31T>G)
c.4141-31T>G (n.4141-31T>G)
c.4201-31T>G (n.4201-31T>G)
 dbSNP gnomAD v4
17g.31258313T=CA2255573285NF1c.4156-31T= (n.4156-31T=)
n.280-31T=
c.165-31T=
n.819-31T=
c.4204-31T= (n.4204-31T=)
n.115T=
c.4174-31T= (n.4174-31T=)
c.4111-31T= (n.4111-31T=)
c.3109-31T= (n.3109-31T=)
c.690-31T=
c.627-31T=
n.2647-31T=
c.4213-31T= (n.4213-31T=)
c.4165-31T= (n.4165-31T=)
c.4141-31T= (n.4141-31T=)
c.4201-31T= (n.4201-31T=)
17g.31258314T>ACA2733263954NF1c.4156-30T>A (n.4156-30T>A)
n.280-30T>A
c.165-30T>A
n.819-30T>A
c.4204-30T>A (n.4204-30T>A)
n.116T>A
c.4174-30T>A (n.4174-30T>A)
c.4111-30T>A (n.4111-30T>A)
c.3109-30T>A (n.3109-30T>A)
c.690-30T>A
c.627-30T>A
n.2647-30T>A
c.4213-30T>A (n.4213-30T>A)
c.4165-30T>A (n.4165-30T>A)
c.4141-30T>A (n.4141-30T>A)
c.4201-30T>A (n.4201-30T>A)
 dbSNP
17g.31258314T>CCA2255573290NF1c.4156-30T>C (n.4156-30T>C)
n.280-30T>C
c.165-30T>C
n.819-30T>C
c.4204-30T>C (n.4204-30T>C)
n.116T>C
c.4174-30T>C (n.4174-30T>C)
c.4111-30T>C (n.4111-30T>C)
c.3109-30T>C (n.3109-30T>C)
c.690-30T>C
c.627-30T>C
n.2647-30T>C
c.4213-30T>C (n.4213-30T>C)
c.4165-30T>C (n.4165-30T>C)
c.4141-30T>C (n.4141-30T>C)
c.4201-30T>C (n.4201-30T>C)
 dbSNP
17g.31258314T>GCA2255573291NF1c.4156-30T>G (n.4156-30T>G)
n.280-30T>G
c.165-30T>G
n.819-30T>G
c.4204-30T>G (n.4204-30T>G)
n.116T>G
c.4174-30T>G (n.4174-30T>G)
c.4111-30T>G (n.4111-30T>G)
c.3109-30T>G (n.3109-30T>G)
c.690-30T>G
c.627-30T>G
n.2647-30T>G
c.4213-30T>G (n.4213-30T>G)
c.4165-30T>G (n.4165-30T>G)
c.4141-30T>G (n.4141-30T>G)
c.4201-30T>G (n.4201-30T>G)
 dbSNP
17g.31258314T=CA2255573289NF1c.4156-30T= (n.4156-30T=)
n.280-30T=
c.165-30T=
n.819-30T=
c.4204-30T= (n.4204-30T=)
n.116T=
c.4174-30T= (n.4174-30T=)
c.4111-30T= (n.4111-30T=)
c.3109-30T= (n.3109-30T=)
c.690-30T=
c.627-30T=
n.2647-30T=
c.4213-30T= (n.4213-30T=)
c.4165-30T= (n.4165-30T=)
c.4141-30T= (n.4141-30T=)
c.4201-30T= (n.4201-30T=)
17g.31258315A>GCA2733595987NF1c.4156-29A>G (n.4156-29A>G)
n.280-29A>G
c.165-29A>G
n.819-29A>G
c.4204-29A>G (n.4204-29A>G)
n.117A>G
c.4174-29A>G (n.4174-29A>G)
c.4111-29A>G (n.4111-29A>G)
c.3109-29A>G (n.3109-29A>G)
c.690-29A>G
c.627-29A>G
n.2647-29A>G
c.4213-29A>G (n.4213-29A>G)
c.4165-29A>G (n.4165-29A>G)
c.4141-29A>G (n.4141-29A>G)
c.4201-29A>G (n.4201-29A>G)
 dbSNP
17g.31258315A>TCA2733596027NF1c.4156-29A>T (n.4156-29A>T)
n.280-29A>T
c.165-29A>T
n.819-29A>T
c.4204-29A>T (n.4204-29A>T)
n.117A>T
c.4174-29A>T (n.4174-29A>T)
c.4111-29A>T (n.4111-29A>T)
c.3109-29A>T (n.3109-29A>T)
c.690-29A>T
c.627-29A>T
n.2647-29A>T
c.4213-29A>T (n.4213-29A>T)
c.4165-29A>T (n.4165-29A>T)
c.4141-29A>T (n.4141-29A>T)
c.4201-29A>T (n.4201-29A>T)
 dbSNP
17g.31258316T>ACA2733212039NF1c.4156-28T>A (n.4156-28T>A)
n.280-28T>A
c.165-28T>A
n.819-28T>A
c.4204-28T>A (n.4204-28T>A)
n.118T>A
c.4174-28T>A (n.4174-28T>A)
c.4111-28T>A (n.4111-28T>A)
c.3109-28T>A (n.3109-28T>A)
c.690-28T>A
c.627-28T>A
n.2647-28T>A
c.4213-28T>A (n.4213-28T>A)
c.4165-28T>A (n.4165-28T>A)
c.4141-28T>A (n.4141-28T>A)
c.4201-28T>A (n.4201-28T>A)
 dbSNP
17g.31258316T>CCA8486360NF1c.4156-28T>C (n.4156-28T>C)
n.280-28T>C
c.165-28T>C
n.819-28T>C
c.4204-28T>C (n.4204-28T>C)
n.118T>C
c.4174-28T>C (n.4174-28T>C)
c.4111-28T>C (n.4111-28T>C)
c.3109-28T>C (n.3109-28T>C)
c.690-28T>C
c.627-28T>C
n.2647-28T>C
c.4213-28T>C (n.4213-28T>C)
c.4165-28T>C (n.4165-28T>C)
c.4141-28T>C (n.4141-28T>C)
c.4201-28T>C (n.4201-28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31258316T=CA2255573292NF1c.4156-28T= (n.4156-28T=)
n.280-28T=
c.165-28T=
n.819-28T=
c.4204-28T= (n.4204-28T=)
n.118T=
c.4174-28T= (n.4174-28T=)
c.4111-28T= (n.4111-28T=)
c.3109-28T= (n.3109-28T=)
c.690-28T=
c.627-28T=
n.2647-28T=
c.4213-28T= (n.4213-28T=)
c.4165-28T= (n.4165-28T=)
c.4141-28T= (n.4141-28T=)
c.4201-28T= (n.4201-28T=)
17g.31258318C>ACA2733596036NF1c.4156-26C>A (n.4156-26C>A)
n.280-26C>A
c.165-26C>A
n.819-26C>A
c.4204-26C>A (n.4204-26C>A)
n.120C>A
c.4174-26C>A (n.4174-26C>A)
c.4111-26C>A (n.4111-26C>A)
c.3109-26C>A (n.3109-26C>A)
c.690-26C>A
c.627-26C>A
n.2647-26C>A
c.4213-26C>A (n.4213-26C>A)
c.4165-26C>A (n.4165-26C>A)
c.4141-26C>A (n.4141-26C>A)
c.4201-26C>A (n.4201-26C>A)
 dbSNP
17g.31258318C>GCA2733596038NF1c.4156-26C>G (n.4156-26C>G)
n.280-26C>G
c.165-26C>G
n.819-26C>G
c.4204-26C>G (n.4204-26C>G)
n.120C>G
c.4174-26C>G (n.4174-26C>G)
c.4111-26C>G (n.4111-26C>G)
c.3109-26C>G (n.3109-26C>G)
c.690-26C>G
c.627-26C>G
n.2647-26C>G
c.4213-26C>G (n.4213-26C>G)
c.4165-26C>G (n.4165-26C>G)
c.4141-26C>G (n.4141-26C>G)
c.4201-26C>G (n.4201-26C>G)
 dbSNP
17g.31258318C>TCA2637080132NF1c.4156-26C>T (n.4156-26C>T)
n.280-26C>T
c.165-26C>T
n.819-26C>T
c.4204-26C>T (n.4204-26C>T)
n.120C>T
c.4174-26C>T (n.4174-26C>T)
c.4111-26C>T (n.4111-26C>T)
c.3109-26C>T (n.3109-26C>T)
c.690-26C>T
c.627-26C>T
n.2647-26C>T
c.4213-26C>T (n.4213-26C>T)
c.4165-26C>T (n.4165-26C>T)
c.4141-26C>T (n.4141-26C>T)
c.4201-26C>T (n.4201-26C>T)
 dbSNP gnomAD v4
17g.31258319T>CCA2733253562NF1c.4156-25T>C (n.4156-25T>C)
n.280-25T>C
c.165-25T>C
n.819-25T>C
c.4204-25T>C (n.4204-25T>C)
n.121T>C
c.4174-25T>C (n.4174-25T>C)
c.4111-25T>C (n.4111-25T>C)
c.3109-25T>C (n.3109-25T>C)
c.690-25T>C
c.627-25T>C
n.2647-25T>C
c.4213-25T>C (n.4213-25T>C)
c.4165-25T>C (n.4165-25T>C)
c.4141-25T>C (n.4141-25T>C)
c.4201-25T>C (n.4201-25T>C)
 dbSNP
17g.31258319T>GCA625475555NF1c.4156-25T>G (n.4156-25T>G)
n.280-25T>G
c.165-25T>G
n.819-25T>G
c.4204-25T>G (n.4204-25T>G)
n.121T>G
c.4174-25T>G (n.4174-25T>G)
c.4111-25T>G (n.4111-25T>G)
c.3109-25T>G (n.3109-25T>G)
c.690-25T>G
c.627-25T>G
n.2647-25T>G
c.4213-25T>G (n.4213-25T>G)
c.4165-25T>G (n.4165-25T>G)
c.4141-25T>G (n.4141-25T>G)
c.4201-25T>G (n.4201-25T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.31258319T=CA2255573294NF1c.4156-25T= (n.4156-25T=)
n.280-25T=
c.165-25T=
n.819-25T=
c.4204-25T= (n.4204-25T=)
n.121T=
c.4174-25T= (n.4174-25T=)
c.4111-25T= (n.4111-25T=)
c.3109-25T= (n.3109-25T=)
c.690-25T=
c.627-25T=
n.2647-25T=
c.4213-25T= (n.4213-25T=)
c.4165-25T= (n.4165-25T=)
c.4141-25T= (n.4141-25T=)
c.4201-25T= (n.4201-25T=)
17g.31258320C>ACA2733596121NF1c.4156-24C>A (n.4156-24C>A)
n.280-24C>A
c.165-24C>A
n.819-24C>A
c.4204-24C>A (n.4204-24C>A)
n.122C>A
c.4174-24C>A (n.4174-24C>A)
c.4111-24C>A (n.4111-24C>A)
c.3109-24C>A (n.3109-24C>A)
c.690-24C>A
c.627-24C>A
n.2647-24C>A
c.4213-24C>A (n.4213-24C>A)
c.4165-24C>A (n.4165-24C>A)
c.4141-24C>A (n.4141-24C>A)
c.4201-24C>A (n.4201-24C>A)
 dbSNP
17g.31258320C>GCA2733596127NF1c.4156-24C>G (n.4156-24C>G)
n.280-24C>G
c.165-24C>G
n.819-24C>G
c.4204-24C>G (n.4204-24C>G)
n.122C>G
c.4174-24C>G (n.4174-24C>G)
c.4111-24C>G (n.4111-24C>G)
c.3109-24C>G (n.3109-24C>G)
c.690-24C>G
c.627-24C>G
n.2647-24C>G
c.4213-24C>G (n.4213-24C>G)
c.4165-24C>G (n.4165-24C>G)
c.4141-24C>G (n.4141-24C>G)
c.4201-24C>G (n.4201-24C>G)
 dbSNP
17g.31258320C>TCA2733596091NF1c.4156-24C>T (n.4156-24C>T)
n.280-24C>T
c.165-24C>T
n.819-24C>T
c.4204-24C>T (n.4204-24C>T)
n.122C>T
c.4174-24C>T (n.4174-24C>T)
c.4111-24C>T (n.4111-24C>T)
c.3109-24C>T (n.3109-24C>T)
c.690-24C>T
c.627-24C>T
n.2647-24C>T
c.4213-24C>T (n.4213-24C>T)
c.4165-24C>T (n.4165-24C>T)
c.4141-24C>T (n.4141-24C>T)
c.4201-24C>T (n.4201-24C>T)
 dbSNP
17g.31258321A>TCA2733596129NF1c.4156-23A>T (n.4156-23A>T)
n.280-23A>T
c.165-23A>T
n.819-23A>T
c.4204-23A>T (n.4204-23A>T)
n.123A>T
c.4174-23A>T (n.4174-23A>T)
c.4111-23A>T (n.4111-23A>T)
c.3109-23A>T (n.3109-23A>T)
c.690-23A>T
c.627-23A>T
n.2647-23A>T
c.4213-23A>T (n.4213-23A>T)
c.4165-23A>T (n.4165-23A>T)
c.4141-23A>T (n.4141-23A>T)
c.4201-23A>T (n.4201-23A>T)
 dbSNP
17g.31258322A=CA2255573296NF1c.4156-22A= (n.4156-22A=)
n.280-22A=
c.165-22A=
n.819-22A=
c.4204-22A= (n.4204-22A=)
n.124A=
c.4174-22A= (n.4174-22A=)
c.4111-22A= (n.4111-22A=)
c.3109-22A= (n.3109-22A=)
c.690-22A=
c.627-22A=
n.2647-22A=
c.4213-22A= (n.4213-22A=)
c.4165-22A= (n.4165-22A=)
c.4141-22A= (n.4141-22A=)
c.4201-22A= (n.4201-22A=)
17g.31258322A>GCA8486361NF1c.4156-22A>G (n.4156-22A>G)
n.280-22A>G
c.165-22A>G
n.819-22A>G
c.4204-22A>G (n.4204-22A>G)
n.124A>G
c.4174-22A>G (n.4174-22A>G)
c.4111-22A>G (n.4111-22A>G)
c.3109-22A>G (n.3109-22A>G)
c.690-22A>G
c.627-22A>G
n.2647-22A>G
c.4213-22A>G (n.4213-22A>G)
c.4165-22A>G (n.4165-22A>G)
c.4141-22A>G (n.4141-22A>G)
c.4201-22A>G (n.4201-22A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258322A>TCA2733212589NF1c.4156-22A>T (n.4156-22A>T)
n.280-22A>T
c.165-22A>T
n.819-22A>T
c.4204-22A>T (n.4204-22A>T)
n.124A>T
c.4174-22A>T (n.4174-22A>T)
c.4111-22A>T (n.4111-22A>T)
c.3109-22A>T (n.3109-22A>T)
c.690-22A>T
c.627-22A>T
n.2647-22A>T
c.4213-22A>T (n.4213-22A>T)
c.4165-22A>T (n.4165-22A>T)
c.4141-22A>T (n.4141-22A>T)
c.4201-22A>T (n.4201-22A>T)
 dbSNP
17g.31258324T>CCA2733596172NF1c.4156-20T>C (n.4156-20T>C)
n.280-20T>C
c.165-20T>C
n.819-20T>C
c.4204-20T>C (n.4204-20T>C)
n.126T>C
c.4174-20T>C (n.4174-20T>C)
c.4111-20T>C (n.4111-20T>C)
c.3109-20T>C (n.3109-20T>C)
c.690-20T>C
c.627-20T>C
n.2647-20T>C
c.4213-20T>C (n.4213-20T>C)
c.4165-20T>C (n.4165-20T>C)
c.4141-20T>C (n.4141-20T>C)
c.4201-20T>C (n.4201-20T>C)
 dbSNP
17g.31258325C>ACA2527778094NF1c.4156-19C>A (n.4156-19C>A)
n.280-19C>A
c.165-19C>A
n.819-19C>A
c.4204-19C>A (n.4204-19C>A)
n.127C>A
c.4174-19C>A (n.4174-19C>A)
c.4111-19C>A (n.4111-19C>A)
c.3109-19C>A (n.3109-19C>A)
c.690-19C>A
c.627-19C>A
n.2647-19C>A
c.4213-19C>A (n.4213-19C>A)
c.4165-19C>A (n.4165-19C>A)
c.4141-19C>A (n.4141-19C>A)
c.4201-19C>A (n.4201-19C>A)
17g.31258326T>CCA2733596222NF1c.4156-18T>C (n.4156-18T>C)
n.280-18T>C
c.165-18T>C
n.819-18T>C
c.4204-18T>C (n.4204-18T>C)
n.128T>C
c.4174-18T>C (n.4174-18T>C)
c.4111-18T>C (n.4111-18T>C)
c.3109-18T>C (n.3109-18T>C)
c.690-18T>C
c.627-18T>C
n.2647-18T>C
c.4213-18T>C (n.4213-18T>C)
c.4165-18T>C (n.4165-18T>C)
c.4141-18T>C (n.4141-18T>C)
c.4201-18T>C (n.4201-18T>C)
 dbSNP
17g.31258327C>GCA2573153564NF1c.4156-17C>G (n.4156-17C>G)
n.280-17C>G
c.165-17C>G
n.819-17C>G
c.4204-17C>G (n.4204-17C>G)
n.129C>G
c.4174-17C>G (n.4174-17C>G)
c.4111-17C>G (n.4111-17C>G)
c.3109-17C>G (n.3109-17C>G)
c.690-17C>G
c.627-17C>G
n.2647-17C>G
c.4213-17C>G (n.4213-17C>G)
c.4165-17C>G (n.4165-17C>G)
c.4141-17C>G (n.4141-17C>G)
c.4201-17C>G (n.4201-17C>G)
 ClinVar dbSNP
17g.31258327C>TCA2733596230NF1c.4156-17C>T (n.4156-17C>T)
n.280-17C>T
c.165-17C>T
n.819-17C>T
c.4204-17C>T (n.4204-17C>T)
n.129C>T
c.4174-17C>T (n.4174-17C>T)
c.4111-17C>T (n.4111-17C>T)
c.3109-17C>T (n.3109-17C>T)
c.690-17C>T
c.627-17C>T
n.2647-17C>T
c.4213-17C>T (n.4213-17C>T)
c.4165-17C>T (n.4165-17C>T)
c.4141-17C>T (n.4141-17C>T)
c.4201-17C>T (n.4201-17C>T)
 dbSNP
17g.31258327_31258328insCTTGTTTTTAGGTGGTTAGCCTAAACA2573153565NF1c.4156-17_4156-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4156-17_4156-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
n.280-17_280-16insCTTGTTTTTAGGTGGTTAGCCTAAA
c.165-17_165-16insCTTGTTTTTAGGTGGTTAGCCTAAA
n.819-17_819-16insCTTGTTTTTAGGTGGTTAGCCTAAA
c.4204-17_4204-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4204-17_4204-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
n.129_130insCTTGTTTTTAGGTGGTTAGCCTAAA
c.4174-17_4174-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4174-17_4174-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
c.4111-17_4111-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4111-17_4111-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
c.3109-17_3109-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.3109-17_3109-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
c.690-17_690-16insCTTGTTTTTAGGTGGTTAGCCTAAA
c.627-17_627-16insCTTGTTTTTAGGTGGTTAGCCTAAA
n.2647-17_2647-16insCTTGTTTTTAGGTGGTTAGCCTAAA
c.4213-17_4213-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4213-17_4213-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
c.4165-17_4165-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4165-17_4165-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
c.4141-17_4141-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4141-17_4141-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
c.4201-17_4201-16insCTTGTTTTTAGGTGGTTAGCCTAAA (n.4201-17_4201-16insCTTGTTTTTAGGTGGTTAGCCTAAA)
 ClinVar dbSNP
17g.31258328A>TCA2733596368NF1c.4156-16A>T (n.4156-16A>T)
n.280-16A>T
c.165-16A>T
n.819-16A>T
c.4204-16A>T (n.4204-16A>T)
n.130A>T
c.4174-16A>T (n.4174-16A>T)
c.4111-16A>T (n.4111-16A>T)
c.3109-16A>T (n.3109-16A>T)
c.690-16A>T
c.627-16A>T
n.2647-16A>T
c.4213-16A>T (n.4213-16A>T)
c.4165-16A>T (n.4165-16A>T)
c.4141-16A>T (n.4141-16A>T)
c.4201-16A>T (n.4201-16A>T)
 dbSNP
17g.31258329A>CCA2573153566NF1c.4156-15A>C (n.4156-15A>C)
n.280-15A>C
c.165-15A>C
n.819-15A>C
c.4204-15A>C (n.4204-15A>C)
n.131A>C
c.4174-15A>C (n.4174-15A>C)
c.4111-15A>C (n.4111-15A>C)
c.3109-15A>C (n.3109-15A>C)
c.690-15A>C
c.627-15A>C
n.2647-15A>C
c.4213-15A>C (n.4213-15A>C)
c.4165-15A>C (n.4165-15A>C)
c.4141-15A>C (n.4141-15A>C)
c.4201-15A>C (n.4201-15A>C)
 ClinVar dbSNP
17g.31258329A>GCA2733596486NF1c.4156-15A>G (n.4156-15A>G)
n.280-15A>G
c.165-15A>G
n.819-15A>G
c.4204-15A>G (n.4204-15A>G)
n.131A>G
c.4174-15A>G (n.4174-15A>G)
c.4111-15A>G (n.4111-15A>G)
c.3109-15A>G (n.3109-15A>G)
c.690-15A>G
c.627-15A>G
n.2647-15A>G
c.4213-15A>G (n.4213-15A>G)
c.4165-15A>G (n.4165-15A>G)
c.4141-15A>G (n.4141-15A>G)
c.4201-15A>G (n.4201-15A>G)
 ClinVar dbSNP
17g.31258329A>TCA2733596562NF1c.4156-15A>T (n.4156-15A>T)
n.280-15A>T
c.165-15A>T
n.819-15A>T
c.4204-15A>T (n.4204-15A>T)
n.131A>T
c.4174-15A>T (n.4174-15A>T)
c.4111-15A>T (n.4111-15A>T)
c.3109-15A>T (n.3109-15A>T)
c.690-15A>T
c.627-15A>T
n.2647-15A>T
c.4213-15A>T (n.4213-15A>T)
c.4165-15A>T (n.4165-15A>T)
c.4141-15A>T (n.4141-15A>T)
c.4201-15A>T (n.4201-15A>T)
 dbSNP
17g.31258330C>ACA2637080145NF1c.4156-14C>A (n.4156-14C>A)
n.280-14C>A
c.165-14C>A
n.819-14C>A
c.4204-14C>A (n.4204-14C>A)
n.132C>A
c.4174-14C>A (n.4174-14C>A)
c.4111-14C>A (n.4111-14C>A)
c.3109-14C>A (n.3109-14C>A)
c.690-14C>A
c.627-14C>A
n.2647-14C>A
c.4213-14C>A (n.4213-14C>A)
c.4165-14C>A (n.4165-14C>A)
c.4141-14C>A (n.4141-14C>A)
c.4201-14C>A (n.4201-14C>A)
 ClinVar gnomAD v4
17g.31258330C>GCA2733596567NF1c.4156-14C>G (n.4156-14C>G)
n.280-14C>G
c.165-14C>G
n.819-14C>G
c.4204-14C>G (n.4204-14C>G)
n.132C>G
c.4174-14C>G (n.4174-14C>G)
c.4111-14C>G (n.4111-14C>G)
c.3109-14C>G (n.3109-14C>G)
c.690-14C>G
c.627-14C>G
n.2647-14C>G
c.4213-14C>G (n.4213-14C>G)
c.4165-14C>G (n.4165-14C>G)
c.4141-14C>G (n.4141-14C>G)
c.4201-14C>G (n.4201-14C>G)
 dbSNP
17g.31258330C>TCA2733596577NF1c.4156-14C>T (n.4156-14C>T)
n.280-14C>T
c.165-14C>T
n.819-14C>T
c.4204-14C>T (n.4204-14C>T)
n.132C>T
c.4174-14C>T (n.4174-14C>T)
c.4111-14C>T (n.4111-14C>T)
c.3109-14C>T (n.3109-14C>T)
c.690-14C>T
c.627-14C>T
n.2647-14C>T
c.4213-14C>T (n.4213-14C>T)
c.4165-14C>T (n.4165-14C>T)
c.4141-14C>T (n.4141-14C>T)
c.4201-14C>T (n.4201-14C>T)
 dbSNP
17g.31258331T>ACA2573153567NF1c.4156-13T>A (n.4156-13T>A)
n.280-13T>A
c.165-13T>A
n.819-13T>A
c.4204-13T>A (n.4204-13T>A)
n.133T>A
c.4174-13T>A (n.4174-13T>A)
c.4111-13T>A (n.4111-13T>A)
c.3109-13T>A (n.3109-13T>A)
c.690-13T>A
c.627-13T>A
n.2647-13T>A
c.4213-13T>A (n.4213-13T>A)
c.4165-13T>A (n.4165-13T>A)
c.4141-13T>A (n.4141-13T>A)
c.4201-13T>A (n.4201-13T>A)
 ClinVar dbSNP
17g.31258331T>CCA2255573300NF1c.4156-13T>C (n.4156-13T>C)
n.280-13T>C
c.165-13T>C
n.819-13T>C
c.4204-13T>C (n.4204-13T>C)
n.133T>C
c.4174-13T>C (n.4174-13T>C)
c.4111-13T>C (n.4111-13T>C)
c.3109-13T>C (n.3109-13T>C)
c.690-13T>C
c.627-13T>C
n.2647-13T>C
c.4213-13T>C (n.4213-13T>C)
c.4165-13T>C (n.4165-13T>C)
c.4141-13T>C (n.4141-13T>C)
c.4201-13T>C (n.4201-13T>C)
 ClinVar dbSNP
17g.31258331T=CA2255573299NF1c.4156-13T= (n.4156-13T=)
n.280-13T=
c.165-13T=
n.819-13T=
c.4204-13T= (n.4204-13T=)
n.133T=
c.4174-13T= (n.4174-13T=)
c.4111-13T= (n.4111-13T=)
c.3109-13T= (n.3109-13T=)
c.690-13T=
c.627-13T=
n.2647-13T=
c.4213-13T= (n.4213-13T=)
c.4165-13T= (n.4165-13T=)
c.4141-13T= (n.4141-13T=)
c.4201-13T= (n.4201-13T=)
17g.31258331_31258332delinsTCCA2255573298NF1c.4156-13_4156-12delinsTC (n.4156-13_4156-12delinsTC)
n.280-13_280-12delinsTC
c.165-13_165-12delinsTC
n.819-13_819-12delinsTC
c.4204-13_4204-12delinsTC (n.4204-13_4204-12delinsTC)
n.133_134delinsTC
c.4174-13_4174-12delinsTC (n.4174-13_4174-12delinsTC)
c.4111-13_4111-12delinsTC (n.4111-13_4111-12delinsTC)
c.3109-13_3109-12delinsTC (n.3109-13_3109-12delinsTC)
c.690-13_690-12delinsTC
c.627-13_627-12delinsTC
n.2647-13_2647-12delinsTC
c.4213-13_4213-12delinsTC (n.4213-13_4213-12delinsTC)
c.4165-13_4165-12delinsTC (n.4165-13_4165-12delinsTC)
c.4141-13_4141-12delinsTC (n.4141-13_4141-12delinsTC)
c.4201-13_4201-12delinsTC (n.4201-13_4201-12delinsTC)
17g.31258332C>ACA2255573302NF1c.4156-12C>A (n.4156-12C>A)
n.280-12C>A
c.165-12C>A
n.819-12C>A
c.4204-12C>A (n.4204-12C>A)
n.134C>A
c.4174-12C>A (n.4174-12C>A)
c.4111-12C>A (n.4111-12C>A)
c.3109-12C>A (n.3109-12C>A)
c.690-12C>A
c.627-12C>A
n.2647-12C>A
c.4213-12C>A (n.4213-12C>A)
c.4165-12C>A (n.4165-12C>A)
c.4141-12C>A (n.4141-12C>A)
c.4201-12C>A (n.4201-12C>A)
 dbSNP
17g.31258332C=CA2255573304NF1c.4156-12C= (n.4156-12C=)
n.280-12C=
c.165-12C=
n.819-12C=
c.4204-12C= (n.4204-12C=)
n.134C=
c.4174-12C= (n.4174-12C=)
c.4111-12C= (n.4111-12C=)
c.3109-12C= (n.3109-12C=)
c.690-12C=
c.627-12C=
n.2647-12C=
c.4213-12C= (n.4213-12C=)
c.4165-12C= (n.4165-12C=)
c.4141-12C= (n.4141-12C=)
c.4201-12C= (n.4201-12C=)
17g.31258332C>GCA2733359895NF1c.4156-12C>G (n.4156-12C>G)
n.280-12C>G
c.165-12C>G
n.819-12C>G
c.4204-12C>G (n.4204-12C>G)
n.134C>G
c.4174-12C>G (n.4174-12C>G)
c.4111-12C>G (n.4111-12C>G)
c.3109-12C>G (n.3109-12C>G)
c.690-12C>G
c.627-12C>G
n.2647-12C>G
c.4213-12C>G (n.4213-12C>G)
c.4165-12C>G (n.4165-12C>G)
c.4141-12C>G (n.4141-12C>G)
c.4201-12C>G (n.4201-12C>G)
 dbSNP
17g.31258332C>TCA2255573303NF1c.4156-12C>T (n.4156-12C>T)
n.280-12C>T
c.165-12C>T
n.819-12C>T
c.4204-12C>T (n.4204-12C>T)
n.134C>T
c.4174-12C>T (n.4174-12C>T)
c.4111-12C>T (n.4111-12C>T)
c.3109-12C>T (n.3109-12C>T)
c.690-12C>T
c.627-12C>T
n.2647-12C>T
c.4213-12C>T (n.4213-12C>T)
c.4165-12C>T (n.4165-12C>T)
c.4141-12C>T (n.4141-12C>T)
c.4201-12C>T (n.4201-12C>T)
 dbSNP
17g.31258333delCA728050365NF1c.4156-11del (n.4156-11del)
n.280-11del
c.165-11del
n.819-11del
c.4204-11del (n.4204-11del)
n.135del
c.4174-11del (n.4174-11del)
c.4111-11del (n.4111-11del)
c.3109-11del (n.3109-11del)
c.690-11del
c.627-11del
n.2647-11del
c.4213-11del (n.4213-11del)
c.4165-11del (n.4165-11del)
c.4141-11del (n.4141-11del)
c.4201-11del (n.4201-11del)
 dbSNP
17g.31258333C>ACA2733359896NF1c.4156-11C>A (n.4156-11C>A)
n.280-11C>A
c.165-11C>A
n.819-11C>A
c.4204-11C>A (n.4204-11C>A)
n.135C>A
c.4174-11C>A (n.4174-11C>A)
c.4111-11C>A (n.4111-11C>A)
c.3109-11C>A (n.3109-11C>A)
c.690-11C>A
c.627-11C>A
n.2647-11C>A
c.4213-11C>A (n.4213-11C>A)
c.4165-11C>A (n.4165-11C>A)
c.4141-11C>A (n.4141-11C>A)
c.4201-11C>A (n.4201-11C>A)
 dbSNP
17g.31258333C=CA2255573307NF1c.4156-11C= (n.4156-11C=)
n.280-11C=
c.165-11C=
n.819-11C=
c.4204-11C= (n.4204-11C=)
n.135C=
c.4174-11C= (n.4174-11C=)
c.4111-11C= (n.4111-11C=)
c.3109-11C= (n.3109-11C=)
c.690-11C=
c.627-11C=
n.2647-11C=
c.4213-11C= (n.4213-11C=)
c.4165-11C= (n.4165-11C=)
c.4141-11C= (n.4141-11C=)
c.4201-11C= (n.4201-11C=)
17g.31258333C>GCA982967876NF1c.4156-11C>G (n.4156-11C>G)
n.280-11C>G
c.165-11C>G
n.819-11C>G
c.4204-11C>G (n.4204-11C>G)
n.135C>G
c.4174-11C>G (n.4174-11C>G)
c.4111-11C>G (n.4111-11C>G)
c.3109-11C>G (n.3109-11C>G)
c.690-11C>G
c.627-11C>G
n.2647-11C>G
c.4213-11C>G (n.4213-11C>G)
c.4165-11C>G (n.4165-11C>G)
c.4141-11C>G (n.4141-11C>G)
c.4201-11C>G (n.4201-11C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.31258333C>TCA2733359897NF1c.4156-11C>T (n.4156-11C>T)
n.280-11C>T
c.165-11C>T
n.819-11C>T
c.4204-11C>T (n.4204-11C>T)
n.135C>T
c.4174-11C>T (n.4174-11C>T)
c.4111-11C>T (n.4111-11C>T)
c.3109-11C>T (n.3109-11C>T)
c.690-11C>T
c.627-11C>T
n.2647-11C>T
c.4213-11C>T (n.4213-11C>T)
c.4165-11C>T (n.4165-11C>T)
c.4141-11C>T (n.4141-11C>T)
c.4201-11C>T (n.4201-11C>T)
 dbSNP
17g.31258333_31258336delinsCTTGCA2255573306NF1c.4156-11_4156-8delinsCTTG (n.4156-11_4156-8delinsCTTG)
n.280-11_280-8delinsCTTG
c.165-11_165-8delinsCTTG
n.819-11_819-8delinsCTTG
c.4204-11_4204-8delinsCTTG (n.4204-11_4204-8delinsCTTG)
n.135_138delinsCTTG
c.4174-11_4174-8delinsCTTG (n.4174-11_4174-8delinsCTTG)
c.4111-11_4111-8delinsCTTG (n.4111-11_4111-8delinsCTTG)
c.3109-11_3109-8delinsCTTG (n.3109-11_3109-8delinsCTTG)
c.690-11_690-8delinsCTTG
c.627-11_627-8delinsCTTG
n.2647-11_2647-8delinsCTTG
c.4213-11_4213-8delinsCTTG (n.4213-11_4213-8delinsCTTG)
c.4165-11_4165-8delinsCTTG (n.4165-11_4165-8delinsCTTG)
c.4141-11_4141-8delinsCTTG (n.4141-11_4141-8delinsCTTG)
c.4201-11_4201-8delinsCTTG (n.4201-11_4201-8delinsCTTG)
17g.31258334T>ACA2733245457NF1c.4156-10T>A (n.4156-10T>A)
n.280-10T>A
c.165-10T>A
n.819-10T>A
c.4204-10T>A (n.4204-10T>A)
n.136T>A
c.4174-10T>A (n.4174-10T>A)
c.4111-10T>A (n.4111-10T>A)
c.3109-10T>A (n.3109-10T>A)
c.690-10T>A
c.627-10T>A
n.2647-10T>A
c.4213-10T>A (n.4213-10T>A)
c.4165-10T>A (n.4165-10T>A)
c.4141-10T>A (n.4141-10T>A)
c.4201-10T>A (n.4201-10T>A)
 dbSNP
17g.31258334T>CCA625475562NF1c.4156-10T>C (n.4156-10T>C)
n.280-10T>C
c.165-10T>C
n.819-10T>C
c.4204-10T>C (n.4204-10T>C)
n.136T>C
c.4174-10T>C (n.4174-10T>C)
c.4111-10T>C (n.4111-10T>C)
c.3109-10T>C (n.3109-10T>C)
c.690-10T>C
c.627-10T>C
n.2647-10T>C
c.4213-10T>C (n.4213-10T>C)
c.4165-10T>C (n.4165-10T>C)
c.4141-10T>C (n.4141-10T>C)
c.4201-10T>C (n.4201-10T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31258334T=CA2255573314NF1c.4156-10T= (n.4156-10T=)
n.280-10T=
c.165-10T=
n.819-10T=
c.4204-10T= (n.4204-10T=)
n.136T=
c.4174-10T= (n.4174-10T=)
c.4111-10T= (n.4111-10T=)
c.3109-10T= (n.3109-10T=)
c.690-10T=
c.627-10T=
n.2647-10T=
c.4213-10T= (n.4213-10T=)
c.4165-10T= (n.4165-10T=)
c.4141-10T= (n.4141-10T=)
c.4201-10T= (n.4201-10T=)
17g.31258336_31258338delCA339144NF1c.4156-8_4156-6del (n.4156-8_4156-6del)
n.280-8_280-6del
c.165-8_165-6del
n.819-8_819-6del
c.4204-8_4204-6del (n.4204-8_4204-6del)
n.138_140del
c.4174-8_4174-6del (n.4174-8_4174-6del)
c.4111-8_4111-6del (n.4111-8_4111-6del)
c.3109-8_3109-6del (n.3109-8_3109-6del)
c.690-8_690-6del
c.627-8_627-6del
n.2647-8_2647-6del
c.4213-8_4213-6del (n.4213-8_4213-6del)
c.4165-8_4165-6del (n.4165-8_4165-6del)
c.4141-8_4141-6del (n.4141-8_4141-6del)
c.4201-8_4201-6del (n.4201-8_4201-6del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258335T>ACA2733596602NF1c.4156-9T>A (n.4156-9T>A)
n.280-9T>A
c.165-9T>A
n.819-9T>A
c.4204-9T>A (n.4204-9T>A)
n.137T>A
c.4174-9T>A (n.4174-9T>A)
c.4111-9T>A (n.4111-9T>A)
c.3109-9T>A (n.3109-9T>A)
c.690-9T>A
c.627-9T>A
n.2647-9T>A
c.4213-9T>A (n.4213-9T>A)
c.4165-9T>A (n.4165-9T>A)
c.4141-9T>A (n.4141-9T>A)
c.4201-9T>A (n.4201-9T>A)
 dbSNP
17g.31258335T>CCA2580092793NF1c.4156-9T>C (n.4156-9T>C)
n.280-9T>C
c.165-9T>C
n.819-9T>C
c.4204-9T>C (n.4204-9T>C)
n.137T>C
c.4174-9T>C (n.4174-9T>C)
c.4111-9T>C (n.4111-9T>C)
c.3109-9T>C (n.3109-9T>C)
c.690-9T>C
c.627-9T>C
n.2647-9T>C
c.4213-9T>C (n.4213-9T>C)
c.4165-9T>C (n.4165-9T>C)
c.4141-9T>C (n.4141-9T>C)
c.4201-9T>C (n.4201-9T>C)
 ClinVar dbSNP
17g.31258336_31258337delCA2580092794NF1c.4156-8_4156-7del (n.4156-8_4156-7del)
n.280-8_280-7del
c.165-8_165-7del
n.819-8_819-7del
c.4204-8_4204-7del (n.4204-8_4204-7del)
n.138_139del
c.4174-8_4174-7del (n.4174-8_4174-7del)
c.4111-8_4111-7del (n.4111-8_4111-7del)
c.3109-8_3109-7del (n.3109-8_3109-7del)
c.690-8_690-7del
c.627-8_627-7del
n.2647-8_2647-7del
c.4213-8_4213-7del (n.4213-8_4213-7del)
c.4165-8_4165-7del (n.4165-8_4165-7del)
c.4141-8_4141-7del (n.4141-8_4141-7del)
c.4201-8_4201-7del (n.4201-8_4201-7del)
 ClinVar
17g.31258336G>ACA289350465NF1c.4156-8G>A (n.4156-8G>A)
n.280-8G>A
c.165-8G>A
n.819-8G>A
c.4204-8G>A (n.4204-8G>A)
n.138G>A
c.4174-8G>A (n.4174-8G>A)
c.4111-8G>A (n.4111-8G>A)
c.3109-8G>A (n.3109-8G>A)
c.690-8G>A
c.627-8G>A
n.2647-8G>A
c.4213-8G>A (n.4213-8G>A)
c.4165-8G>A (n.4165-8G>A)
c.4141-8G>A (n.4141-8G>A)
c.4201-8G>A (n.4201-8G>A)
 ClinVar dbSNP
17g.31258336G=CA2255573317NF1c.4156-8G= (n.4156-8G=)
n.280-8G=
c.165-8G=
n.819-8G=
c.4204-8G= (n.4204-8G=)
n.138G=
c.4174-8G= (n.4174-8G=)
c.4111-8G= (n.4111-8G=)
c.3109-8G= (n.3109-8G=)
c.690-8G=
c.627-8G=
n.2647-8G=
c.4213-8G= (n.4213-8G=)
c.4165-8G= (n.4165-8G=)
c.4141-8G= (n.4141-8G=)
c.4201-8G= (n.4201-8G=)
17g.31258336G>TCA2499224123NF1c.4156-8G>T (n.4156-8G>T)
n.280-8G>T
c.165-8G>T
n.819-8G>T
c.4204-8G>T (n.4204-8G>T)
n.138G>T
c.4174-8G>T (n.4174-8G>T)
c.4111-8G>T (n.4111-8G>T)
c.3109-8G>T (n.3109-8G>T)
c.690-8G>T
c.627-8G>T
n.2647-8G>T
c.4213-8G>T (n.4213-8G>T)
c.4165-8G>T (n.4165-8G>T)
c.4141-8G>T (n.4141-8G>T)
c.4201-8G>T (n.4201-8G>T)
 ClinVar dbSNP
17g.31258337T>ACA2733596649NF1c.4156-7T>A (n.4156-7T>A)
n.280-7T>A
c.165-7T>A
n.819-7T>A
c.4204-7T>A (n.4204-7T>A)
n.139T>A
c.4174-7T>A (n.4174-7T>A)
c.4111-7T>A (n.4111-7T>A)
c.3109-7T>A (n.3109-7T>A)
c.690-7T>A
c.627-7T>A
n.2647-7T>A
c.4213-7T>A (n.4213-7T>A)
c.4165-7T>A (n.4165-7T>A)
c.4141-7T>A (n.4141-7T>A)
c.4201-7T>A (n.4201-7T>A)
 ClinVar dbSNP
17g.31258337T>GCA2637080162NF1c.4156-7T>G (n.4156-7T>G)
n.280-7T>G
c.165-7T>G
n.819-7T>G
c.4204-7T>G (n.4204-7T>G)
n.139T>G
c.4174-7T>G (n.4174-7T>G)
c.4111-7T>G (n.4111-7T>G)
c.3109-7T>G (n.3109-7T>G)
c.690-7T>G
c.627-7T>G
n.2647-7T>G
c.4213-7T>G (n.4213-7T>G)
c.4165-7T>G (n.4165-7T>G)
c.4141-7T>G (n.4141-7T>G)
c.4201-7T>G (n.4201-7T>G)
 dbSNP gnomAD v4
17g.31258338T>ACA2733596654NF1c.4156-6T>A (n.4156-6T>A)
n.280-6T>A
c.165-6T>A
n.819-6T>A
c.4204-6T>A (n.4204-6T>A)
n.140T>A
c.4174-6T>A (n.4174-6T>A)
c.4111-6T>A (n.4111-6T>A)
c.3109-6T>A (n.3109-6T>A)
c.690-6T>A
c.627-6T>A
n.2647-6T>A
c.4213-6T>A (n.4213-6T>A)
c.4165-6T>A (n.4165-6T>A)
c.4141-6T>A (n.4141-6T>A)
c.4201-6T>A (n.4201-6T>A)
 dbSNP
17g.31258339T>CCA8486362NF1c.4156-5T>C (n.4156-5T>C)
n.280-5T>C
c.165-5T>C
n.819-5T>C
c.4204-5T>C (n.4204-5T>C)
n.141T>C
c.4174-5T>C (n.4174-5T>C)
c.4111-5T>C (n.4111-5T>C)
c.3109-5T>C (n.3109-5T>C)
c.690-5T>C
c.627-5T>C
n.2647-5T>C
c.4213-5T>C (n.4213-5T>C)
c.4165-5T>C (n.4165-5T>C)
c.4141-5T>C (n.4141-5T>C)
c.4201-5T>C (n.4201-5T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31258339T=CA2255573319NF1c.4156-5T= (n.4156-5T=)
n.280-5T=
c.165-5T=
n.819-5T=
c.4204-5T= (n.4204-5T=)
n.141T=
c.4174-5T= (n.4174-5T=)
c.4111-5T= (n.4111-5T=)
c.3109-5T= (n.3109-5T=)
c.690-5T=
c.627-5T=
n.2647-5T=
c.4213-5T= (n.4213-5T=)
c.4165-5T= (n.4165-5T=)
c.4141-5T= (n.4141-5T=)
c.4201-5T= (n.4201-5T=)
17g.31258340T>CCA2733596656NF1c.4156-4T>C (n.4156-4T>C)
n.280-4T>C
c.165-4T>C
n.819-4T>C
c.4204-4T>C (n.4204-4T>C)
n.142T>C
c.4174-4T>C (n.4174-4T>C)
c.4111-4T>C (n.4111-4T>C)
c.3109-4T>C (n.3109-4T>C)
c.690-4T>C
c.627-4T>C
n.2647-4T>C
c.4213-4T>C (n.4213-4T>C)
c.4165-4T>C (n.4165-4T>C)
c.4141-4T>C (n.4141-4T>C)
c.4201-4T>C (n.4201-4T>C)
 dbSNP
17g.31258344_31258351delCA2637080171NF1c.4156_4163del
n.280_287del
c.165_172del
n.819_826del
c.4204_4211del
n.146_153del
c.4174_4181del
c.4111_4118del
c.3109_3116del
c.690_697del
c.627_634del
n.2647_2654del
c.4213_4220del
c.4165_4172del
c.4141_4148del
c.4201_4208del
 gnomAD v4
17g.31258341T>CCA193537NF1c.4156-3T>C (n.4156-3T>C)
n.280-3T>C
c.165-3T>C
n.819-3T>C
c.4204-3T>C (n.4204-3T>C)
n.143T>C
c.4174-3T>C (n.4174-3T>C)
c.4111-3T>C (n.4111-3T>C)
c.3109-3T>C (n.3109-3T>C)
c.690-3T>C
c.627-3T>C
n.2647-3T>C
c.4213-3T>C (n.4213-3T>C)
c.4165-3T>C (n.4165-3T>C)
c.4141-3T>C (n.4141-3T>C)
c.4201-3T>C (n.4201-3T>C)
 ClinVar dbSNP
17g.31258341T=CA2255573322NF1c.4156-3T= (n.4156-3T=)
n.280-3T=
c.165-3T=
n.819-3T=
c.4204-3T= (n.4204-3T=)
n.143T=
c.4174-3T= (n.4174-3T=)
c.4111-3T= (n.4111-3T=)
c.3109-3T= (n.3109-3T=)
c.690-3T=
c.627-3T=
n.2647-3T=
c.4213-3T= (n.4213-3T=)
c.4165-3T= (n.4165-3T=)
c.4141-3T= (n.4141-3T=)
c.4201-3T= (n.4201-3T=)
17g.31258342delCA2573153570NF1c.4156-2del (n.4156-2del)
n.280-2del
c.165-2del
n.819-2del
c.4204-2del (n.4204-2del)
n.144del
c.4174-2del (n.4174-2del)
c.4111-2del (n.4111-2del)
c.3109-2del (n.3109-2del)
c.690-2del
c.627-2del
n.2647-2del
c.4213-2del (n.4213-2del)
c.4165-2del (n.4165-2del)
c.4141-2del (n.4141-2del)
c.4201-2del (n.4201-2del)
 ClinVar dbSNP
17g.31258342A=CA2255573328NF1c.4156-2A= (n.4156-2A=)
n.280-2A=
c.165-2A=
n.819-2A=
c.4204-2A= (n.4204-2A=)
n.144A=
c.4174-2A= (n.4174-2A=)
c.4111-2A= (n.4111-2A=)
c.3109-2A= (n.3109-2A=)
c.690-2A=
c.627-2A=
n.2647-2A=
c.4213-2A= (n.4213-2A=)
c.4165-2A= (n.4165-2A=)
c.4141-2A= (n.4141-2A=)
c.4201-2A= (n.4201-2A=)
17g.31258342A>CCA398997469NF1c.4156-2A>C (n.4156-2A>C)
n.280-2A>C
c.165-2A>C
n.819-2A>C
c.4204-2A>C (n.4204-2A>C)
n.144A>C
c.4174-2A>C (n.4174-2A>C)
c.4111-2A>C (n.4111-2A>C)
c.3109-2A>C (n.3109-2A>C)
c.690-2A>C
c.627-2A>C
n.2647-2A>C
c.4213-2A>C (n.4213-2A>C)
c.4165-2A>C (n.4165-2A>C)
c.4141-2A>C (n.4141-2A>C)
c.4201-2A>C (n.4201-2A>C)
 ClinVar
17g.31258342A>GCA398997467NF1c.4156-2A>G (n.4156-2A>G)
n.280-2A>G
c.165-2A>G
n.819-2A>G
c.4204-2A>G (n.4204-2A>G)
n.144A>G
c.4174-2A>G (n.4174-2A>G)
c.4111-2A>G (n.4111-2A>G)
c.3109-2A>G (n.3109-2A>G)
c.690-2A>G
c.627-2A>G
n.2647-2A>G
c.4213-2A>G (n.4213-2A>G)
c.4165-2A>G (n.4165-2A>G)
c.4141-2A>G (n.4141-2A>G)
c.4201-2A>G (n.4201-2A>G)
 ClinVar dbSNP gnomAD v4
17g.31258342A>TCA398997464NF1c.4156-2A>T (n.4156-2A>T)
n.280-2A>T
c.165-2A>T
n.819-2A>T
c.4204-2A>T (n.4204-2A>T)
n.144A>T
c.4174-2A>T (n.4174-2A>T)
c.4111-2A>T (n.4111-2A>T)
c.3109-2A>T (n.3109-2A>T)
c.690-2A>T
c.627-2A>T
n.2647-2A>T
c.4213-2A>T (n.4213-2A>T)
c.4165-2A>T (n.4165-2A>T)
c.4141-2A>T (n.4141-2A>T)
c.4201-2A>T (n.4201-2A>T)
 dbSNP COSMIC
17g.31258343G>ACA398997472NF1c.4156-1G>A (n.4156-1G>A)
n.280-1G>A
c.165-1G>A
n.819-1G>A
c.4204-1G>A (n.4204-1G>A)
n.145G>A
c.4174-1G>A (n.4174-1G>A)
c.4111-1G>A (n.4111-1G>A)
c.3109-1G>A (n.3109-1G>A)
c.690-1G>A
c.627-1G>A
n.2647-1G>A
c.4213-1G>A (n.4213-1G>A)
c.4165-1G>A (n.4165-1G>A)
c.4141-1G>A (n.4141-1G>A)
c.4201-1G>A (n.4201-1G>A)
 ClinVar dbSNP
17g.31258343G>CCA398997476NF1c.4156-1G>C (n.4156-1G>C)
n.280-1G>C
c.165-1G>C
n.819-1G>C
c.4204-1G>C (n.4204-1G>C)
n.145G>C
c.4174-1G>C (n.4174-1G>C)
c.4111-1G>C (n.4111-1G>C)
c.3109-1G>C (n.3109-1G>C)
c.690-1G>C
c.627-1G>C
n.2647-1G>C
c.4213-1G>C (n.4213-1G>C)
c.4165-1G>C (n.4165-1G>C)
c.4141-1G>C (n.4141-1G>C)
c.4201-1G>C (n.4201-1G>C)
 dbSNP
17g.31258343G=CA2255573332NF1c.4156-1G= (n.4156-1G=)
n.280-1G=
c.165-1G=
n.819-1G=
c.4204-1G= (n.4204-1G=)
n.145G=
c.4174-1G= (n.4174-1G=)
c.4111-1G= (n.4111-1G=)
c.3109-1G= (n.3109-1G=)
c.690-1G=
c.627-1G=
n.2647-1G=
c.4213-1G= (n.4213-1G=)
c.4165-1G= (n.4165-1G=)
c.4141-1G= (n.4141-1G=)
c.4201-1G= (n.4201-1G=)
17g.31258343G>TCA398997474NF1c.4156-1G>T (n.4156-1G>T)
n.280-1G>T
c.165-1G>T
n.819-1G>T
c.4204-1G>T (n.4204-1G>T)
n.145G>T
c.4174-1G>T (n.4174-1G>T)
c.4111-1G>T (n.4111-1G>T)
c.3109-1G>T (n.3109-1G>T)
c.690-1G>T
c.627-1G>T
n.2647-1G>T
c.4213-1G>T (n.4213-1G>T)
c.4165-1G>T (n.4165-1G>T)
c.4141-1G>T (n.4141-1G>T)
c.4201-1G>T (n.4201-1G>T)
 ClinVar dbSNP
17g.31258344delCA2739267392NF1c.4156del
n.280del
c.165del
n.819del
c.4204del
n.146del
c.4174del
c.4111del
c.3109del
c.690del
c.627del
n.2647del
c.4213del
c.4165del
c.4141del
c.4201del
 ClinVar
17g.31258344G>ACA398997478NF1c.4156G>A (p.Val1386Met)
n.280G>A
c.165G>A
n.819G>A
c.4204G>A (p.Val1402Met)
n.146G>A
c.4174G>A (p.Val1392Met)
c.4111G>A (p.Val1371Met)
c.3109G>A (p.Val1037Met)
c.690G>A
c.627G>A
n.2647G>A
c.4213G>A (p.Val1405Met)
c.4165G>A (p.Val1389Met)
c.4141G>A (p.Val1381Met)
c.4201G>A (p.Val1401Met)
 ClinVar dbSNP
17g.31258344G>CCA398997482NF1c.4156G>C (p.Val1386Leu)
n.280G>C
c.165G>C
n.819G>C
c.4204G>C (p.Val1402Leu)
n.146G>C
c.4174G>C (p.Val1392Leu)
c.4111G>C (p.Val1371Leu)
c.3109G>C (p.Val1037Leu)
c.690G>C
c.627G>C
n.2647G>C
c.4213G>C (p.Val1405Leu)
c.4165G>C (p.Val1389Leu)
c.4141G>C (p.Val1381Leu)
c.4201G>C (p.Val1401Leu)
 dbSNP
17g.31258344G=CA2255573340NF1c.4156G= (p.Val1386=)
n.280G=
c.165G=
n.819G=
c.4204G= (p.Val1402=)
n.146G=
c.4174G= (p.Val1392=)
c.4111G= (p.Val1371=)
c.3109G= (p.Val1037=)
c.690G=
c.627G=
n.2647G=
c.4213G= (p.Val1405=)
c.4165G= (p.Val1389=)
c.4141G= (p.Val1381=)
c.4201G= (p.Val1401=)
17g.31258344G>TCA398997481NF1c.4156G>T (p.Val1386Leu)
n.280G>T
c.165G>T
n.819G>T
c.4204G>T (p.Val1402Leu)
n.146G>T
c.4174G>T (p.Val1392Leu)
c.4111G>T (p.Val1371Leu)
c.3109G>T (p.Val1037Leu)
c.690G>T
c.627G>T
n.2647G>T
c.4213G>T (p.Val1405Leu)
c.4165G>T (p.Val1389Leu)
c.4141G>T (p.Val1381Leu)
c.4201G>T (p.Val1401Leu)
 ClinVar dbSNP
17g.31258345T>ACA398997485NF1c.4157T>A (p.Val1386Glu)
n.281T>A
c.166T>A
n.820T>A
c.4205T>A (p.Val1402Glu)
n.147T>A
c.4175T>A (p.Val1392Glu)
c.4112T>A (p.Val1371Glu)
c.3110T>A (p.Val1037Glu)
c.691T>A
c.628T>A
n.2648T>A
c.4214T>A (p.Val1405Glu)
c.4166T>A (p.Val1389Glu)
c.4142T>A (p.Val1381Glu)
c.4202T>A (p.Val1401Glu)
17g.31258345T>CCA398997490NF1c.4157T>C (p.Val1386Ala)
n.281T>C
c.166T>C
n.820T>C
c.4205T>C (p.Val1402Ala)
n.147T>C
c.4175T>C (p.Val1392Ala)
c.4112T>C (p.Val1371Ala)
c.3110T>C (p.Val1037Ala)
c.691T>C
c.628T>C
n.2648T>C
c.4214T>C (p.Val1405Ala)
c.4166T>C (p.Val1389Ala)
c.4142T>C (p.Val1381Ala)
c.4202T>C (p.Val1401Ala)
17g.31258345T>GCA398997487NF1c.4157T>G (p.Val1386Gly)
n.281T>G
c.166T>G
n.820T>G
c.4205T>G (p.Val1402Gly)
n.147T>G
c.4175T>G (p.Val1392Gly)
c.4112T>G (p.Val1371Gly)
c.3110T>G (p.Val1037Gly)
c.691T>G
c.628T>G
n.2648T>G
c.4214T>G (p.Val1405Gly)
c.4166T>G (p.Val1389Gly)
c.4142T>G (p.Val1381Gly)
c.4202T>G (p.Val1401Gly)
17g.31258345_31258346insTGCA2695225648NF1c.4157_4158insTG (p.Val1387GlyfsTer14)
n.281_282insTG
c.166_167insTG
n.820_821insTG
c.4205_4206insTG (p.Val1403GlyfsTer14)
n.147_148insTG
c.4175_4176insTG (p.Val1393GlyfsTer14)
c.4112_4113insTG (p.Val1372GlyfsTer14)
c.3110_3111insTG (p.Val1038GlyfsTer14)
c.691_692insTG
c.628_629insTG
n.2648_2649insTG
c.4214_4215insTG (p.Val1406GlyfsTer14)
c.4166_4167insTG (p.Val1390GlyfsTer14)
c.4142_4143insTG (p.Val1382GlyfsTer14)
c.4202_4203insTG (p.Val1402GlyfsTer14)
17g.31258346G>ACA499233375NF1c.4158G>A (p.Val1386=)
n.282G>A
c.167G>A
n.821G>A
c.4206G>A (p.Val1402=)
n.148G>A
c.4176G>A (p.Val1392=)
c.4113G>A (p.Val1371=)
c.3111G>A (p.Val1037=)
c.692G>A
c.629G>A
n.2649G>A
c.4215G>A (p.Val1405=)
c.4167G>A (p.Val1389=)
c.4143G>A (p.Val1381=)
c.4203G>A (p.Val1401=)
 dbSNP
17g.31258346G>CCA499233376NF1c.4158G>C (p.Val1386=)
n.282G>C
c.167G>C
n.821G>C
c.4206G>C (p.Val1402=)
n.148G>C
c.4176G>C (p.Val1392=)
c.4113G>C (p.Val1371=)
c.3111G>C (p.Val1037=)
c.692G>C
c.629G>C
n.2649G>C
c.4215G>C (p.Val1405=)
c.4167G>C (p.Val1389=)
c.4143G>C (p.Val1381=)
c.4203G>C (p.Val1401=)
 dbSNP
17g.31258346G=CA2255573350NF1c.4158G= (p.Val1386=)
n.282G=
c.167G=
n.821G=
c.4206G= (p.Val1402=)
n.148G=
c.4176G= (p.Val1392=)
c.4113G= (p.Val1371=)
c.3111G= (p.Val1037=)
c.692G=
c.629G=
n.2649G=
c.4215G= (p.Val1405=)
c.4167G= (p.Val1389=)
c.4143G= (p.Val1381=)
c.4203G= (p.Val1401=)
17g.31258346G>TCA499233377NF1c.4158G>T (p.Val1386=)
n.282G>T
c.167G>T
n.821G>T
c.4206G>T (p.Val1402=)
n.148G>T
c.4176G>T (p.Val1392=)
c.4113G>T (p.Val1371=)
c.3111G>T (p.Val1037=)
c.692G>T
c.629G>T
n.2649G>T
c.4215G>T (p.Val1405=)
c.4167G>T (p.Val1389=)
c.4143G>T (p.Val1381=)
c.4203G>T (p.Val1401=)
 dbSNP
17g.31258346_31258347insTCA1139665368NF1c.4158_4159insT (p.Val1387CysfsTer2)
n.282_283insT
c.167_168insT
n.821_822insT
c.4206_4207insT (p.Val1403CysfsTer2)
n.148_149insT
c.4176_4177insT (p.Val1393CysfsTer2)
c.4113_4114insT (p.Val1372CysfsTer2)
c.3111_3112insT (p.Val1038CysfsTer2)
c.692_693insT
c.629_630insT
n.2649_2650insT
c.4215_4216insT (p.Val1406CysfsTer2)
c.4167_4168insT (p.Val1390CysfsTer2)
c.4143_4144insT (p.Val1382CysfsTer2)
c.4203_4204insT (p.Val1402CysfsTer2)
 ClinVar dbSNP
17g.31258347G>ACA398997500NF1c.4159G>A (p.Val1387Ile)
n.283G>A
c.168G>A
n.822G>A
c.4207G>A (p.Val1403Ile)
n.149G>A
c.4177G>A (p.Val1393Ile)
c.4114G>A (p.Val1372Ile)
c.3112G>A (p.Val1038Ile)
c.693G>A
c.630G>A
n.2650G>A
c.4216G>A (p.Val1406Ile)
c.4168G>A (p.Val1390Ile)
c.4144G>A (p.Val1382Ile)
c.4204G>A (p.Val1402Ile)
 ClinVar dbSNP gnomAD v4
17g.31258347G>CCA398997503NF1c.4159G>C (p.Val1387Leu)
n.283G>C
c.168G>C
n.822G>C
c.4207G>C (p.Val1403Leu)
n.149G>C
c.4177G>C (p.Val1393Leu)
c.4114G>C (p.Val1372Leu)
c.3112G>C (p.Val1038Leu)
c.693G>C
c.630G>C
n.2650G>C
c.4216G>C (p.Val1406Leu)
c.4168G>C (p.Val1390Leu)
c.4144G>C (p.Val1382Leu)
c.4204G>C (p.Val1402Leu)
 dbSNP
17g.31258347G>TCA398997505NF1c.4159G>T (p.Val1387Phe)
n.283G>T
c.168G>T
n.822G>T
c.4207G>T (p.Val1403Phe)
n.149G>T
c.4177G>T (p.Val1393Phe)
c.4114G>T (p.Val1372Phe)
c.3112G>T (p.Val1038Phe)
c.693G>T
c.630G>T
n.2650G>T
c.4216G>T (p.Val1406Phe)
c.4168G>T (p.Val1390Phe)
c.4144G>T (p.Val1382Phe)
c.4204G>T (p.Val1402Phe)
 dbSNP
17g.31258347_31258348delCA645582449NF1c.4159_4160del (p.Val1387Ter)
n.283_284del
c.168_169del
n.822_823del
c.4207_4208del (p.Val1403Ter)
n.149_150del
c.4177_4178del (p.Val1393Ter)
c.4114_4115del (p.Val1372Ter)
c.3112_3113del (p.Val1038Ter)
c.693_694del
c.630_631del
n.2650_2651del
c.4216_4217del (p.Val1406Ter)
c.4168_4169del (p.Val1390Ter)
c.4144_4145del (p.Val1382Ter)
c.4204_4205del (p.Val1402Ter)
 COSMIC
17g.31258348T>ACA8486363NF1c.4160T>A (p.Val1387Asp)
n.284T>A
c.169T>A
n.823T>A
c.4208T>A (p.Val1403Asp)
n.150T>A
c.4178T>A (p.Val1393Asp)
c.4115T>A (p.Val1372Asp)
c.3113T>A (p.Val1038Asp)
c.694T>A
c.631T>A
n.2651T>A
c.4217T>A (p.Val1406Asp)
c.4169T>A (p.Val1390Asp)
c.4145T>A (p.Val1382Asp)
c.4205T>A (p.Val1402Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31258348T>CCA398997509NF1c.4160T>C (p.Val1387Ala)
n.284T>C
c.169T>C
n.823T>C
c.4208T>C (p.Val1403Ala)
n.150T>C
c.4178T>C (p.Val1393Ala)
c.4115T>C (p.Val1372Ala)
c.3113T>C (p.Val1038Ala)
c.694T>C
c.631T>C
n.2651T>C
c.4217T>C (p.Val1406Ala)
c.4169T>C (p.Val1390Ala)
c.4145T>C (p.Val1382Ala)
c.4205T>C (p.Val1402Ala)
17g.31258348T>GCA398997511NF1c.4160T>G (p.Val1387Gly)
n.284T>G
c.169T>G
n.823T>G
c.4208T>G (p.Val1403Gly)
n.150T>G
c.4178T>G (p.Val1393Gly)
c.4115T>G (p.Val1372Gly)
c.3113T>G (p.Val1038Gly)
c.694T>G
c.631T>G
n.2651T>G
c.4217T>G (p.Val1406Gly)
c.4169T>G (p.Val1390Gly)
c.4145T>G (p.Val1382Gly)
c.4205T>G (p.Val1402Gly)
 ClinVar dbSNP
17g.31258348T=CA2255573359NF1c.4160T= (p.Val1387=)
n.284T=
c.169T=
n.823T=
c.4208T= (p.Val1403=)
n.150T=
c.4178T= (p.Val1393=)
c.4115T= (p.Val1372=)
c.3113T= (p.Val1038=)
c.694T=
c.631T=
n.2651T=
c.4217T= (p.Val1406=)
c.4169T= (p.Val1390=)
c.4145T= (p.Val1382=)
c.4205T= (p.Val1402=)
17g.31258349T>ACA499233382NF1c.4161T>A (p.Val1387=)
n.285T>A
c.170T>A
n.824T>A
c.4209T>A (p.Val1403=)
n.151T>A
c.4179T>A (p.Val1393=)
c.4116T>A (p.Val1372=)
c.3114T>A (p.Val1038=)
c.695T>A
c.632T>A
n.2652T>A
c.4218T>A (p.Val1406=)
c.4170T>A (p.Val1390=)
c.4146T>A (p.Val1382=)
c.4206T>A (p.Val1402=)
 ClinVar dbSNP
17g.31258349T>CCA499233383NF1c.4161T>C (p.Val1387=)
n.285T>C
c.170T>C
n.824T>C
c.4209T>C (p.Val1403=)
n.151T>C
c.4179T>C (p.Val1393=)
c.4116T>C (p.Val1372=)
c.3114T>C (p.Val1038=)
c.695T>C
c.632T>C
n.2652T>C
c.4218T>C (p.Val1406=)
c.4170T>C (p.Val1390=)
c.4146T>C (p.Val1382=)
c.4206T>C (p.Val1402=)
 dbSNP
17g.31258349T>GCA499233384NF1c.4161T>G (p.Val1387=)
n.285T>G
c.170T>G
n.824T>G
c.4209T>G (p.Val1403=)
n.151T>G
c.4179T>G (p.Val1393=)
c.4116T>G (p.Val1372=)
c.3114T>G (p.Val1038=)
c.695T>G
c.632T>G
n.2652T>G
c.4218T>G (p.Val1406=)
c.4170T>G (p.Val1390=)
c.4146T>G (p.Val1382=)
c.4206T>G (p.Val1402=)
 dbSNP
17g.31258350delCA2695225649NF1c.4162del (p.Ser1388AlafsTer12)
n.286del
c.171del
n.825del
c.4210del (p.Ser1404AlafsTer12)
n.152del
c.4180del (p.Ser1394AlafsTer12)
c.4117del (p.Ser1373AlafsTer12)
c.3115del (p.Ser1039AlafsTer12)
c.696del
c.633del
n.2653del
c.4219del (p.Ser1407AlafsTer12)
c.4171del (p.Ser1391AlafsTer12)
c.4147del (p.Ser1383AlafsTer12)
c.4207del (p.Ser1403AlafsTer12)
17g.31258350A>CCA398997518NF1c.4162A>C (p.Ser1388Arg)
n.286A>C
c.171A>C
n.825A>C
c.4210A>C (p.Ser1404Arg)
n.152A>C
c.4180A>C (p.Ser1394Arg)
c.4117A>C (p.Ser1373Arg)
c.3115A>C (p.Ser1039Arg)
c.696A>C
c.633A>C
n.2653A>C
c.4219A>C (p.Ser1407Arg)
c.4171A>C (p.Ser1391Arg)
c.4147A>C (p.Ser1383Arg)
c.4207A>C (p.Ser1403Arg)
17g.31258350A>GCA398997513NF1c.4162A>G (p.Ser1388Gly)
n.286A>G
c.171A>G
n.825A>G
c.4210A>G (p.Ser1404Gly)
n.152A>G
c.4180A>G (p.Ser1394Gly)
c.4117A>G (p.Ser1373Gly)
c.3115A>G (p.Ser1039Gly)
c.696A>G
c.633A>G
n.2653A>G
c.4219A>G (p.Ser1407Gly)
c.4171A>G (p.Ser1391Gly)
c.4147A>G (p.Ser1383Gly)
c.4207A>G (p.Ser1403Gly)
 dbSNP
17g.31258350A>TCA398997516NF1c.4162A>T (p.Ser1388Cys)
n.286A>T
c.171A>T
n.825A>T
c.4210A>T (p.Ser1404Cys)
n.152A>T
c.4180A>T (p.Ser1394Cys)
c.4117A>T (p.Ser1373Cys)
c.3115A>T (p.Ser1039Cys)
c.696A>T
c.633A>T
n.2653A>T
c.4219A>T (p.Ser1407Cys)
c.4171A>T (p.Ser1391Cys)
c.4147A>T (p.Ser1383Cys)
c.4207A>T (p.Ser1403Cys)
 dbSNP
17g.31258353_31258356delCA2573054386NF1c.4165_4168del (p.Gln1389ValfsTer10)
n.289_292del
c.174_177del
n.828_831del
c.4213_4216del (p.Gln1405ValfsTer10)
n.155_158del
c.4183_4186del (p.Gln1395ValfsTer10)
c.4120_4123del (p.Gln1374ValfsTer10)
c.3118_3121del (p.Gln1040ValfsTer10)
c.699_702del
c.636_639del
n.2656_2659del
c.4222_4225del (p.Gln1408ValfsTer10)
c.4174_4177del (p.Gln1392ValfsTer10)
c.4150_4153del (p.Gln1384ValfsTer10)
c.4210_4213del (p.Gln1404ValfsTer10)
 ClinVar dbSNP
17g.31258351G>ACA398997521NF1c.4163G>A (p.Ser1388Asn)
n.287G>A
c.172G>A
n.826G>A
c.4211G>A (p.Ser1404Asn)
n.153G>A
c.4181G>A (p.Ser1394Asn)
c.4118G>A (p.Ser1373Asn)
c.3116G>A (p.Ser1039Asn)
c.697G>A
c.634G>A
n.2654G>A
c.4220G>A (p.Ser1407Asn)
c.4172G>A (p.Ser1391Asn)
c.4148G>A (p.Ser1383Asn)
c.4208G>A (p.Ser1403Asn)
 ClinVar dbSNP
17g.31258351G>CCA398997522NF1c.4163G>C (p.Ser1388Thr)
n.287G>C
c.172G>C
n.826G>C
c.4211G>C (p.Ser1404Thr)
n.153G>C
c.4181G>C (p.Ser1394Thr)
c.4118G>C (p.Ser1373Thr)
c.3116G>C (p.Ser1039Thr)
c.697G>C
c.634G>C
n.2654G>C
c.4220G>C (p.Ser1407Thr)
c.4172G>C (p.Ser1391Thr)
c.4148G>C (p.Ser1383Thr)
c.4208G>C (p.Ser1403Thr)
 dbSNP
17g.31258351G>TCA398997523NF1c.4163G>T (p.Ser1388Ile)
n.287G>T
c.172G>T
n.826G>T
c.4211G>T (p.Ser1404Ile)
n.153G>T
c.4181G>T (p.Ser1394Ile)
c.4118G>T (p.Ser1373Ile)
c.3116G>T (p.Ser1039Ile)
c.697G>T
c.634G>T
n.2654G>T
c.4220G>T (p.Ser1407Ile)
c.4172G>T (p.Ser1391Ile)
c.4148G>T (p.Ser1383Ile)
c.4208G>T (p.Ser1403Ile)
17g.31258351_31258352delCA2695225650NF1c.4163_4164del (p.Ser1388ThrfsTer29)
n.287_288del
c.172_173del
n.826_827del
c.4211_4212del (p.Ser1404ThrfsTer29)
n.153_154del
c.4181_4182del (p.Ser1394ThrfsTer29)
c.4118_4119del (p.Ser1373ThrfsTer29)
c.3116_3117del (p.Ser1039ThrfsTer29)
c.697_698del
c.634_635del
n.2654_2655del
c.4220_4221del (p.Ser1407ThrfsTer29)
c.4172_4173del (p.Ser1391ThrfsTer29)
c.4148_4149del (p.Ser1383ThrfsTer29)
c.4208_4209del (p.Ser1403ThrfsTer29)
17g.31258352C>ACA398997525NF1c.4164C>A (p.Ser1388Arg)
n.288C>A
c.173C>A
n.827C>A
c.4212C>A (p.Ser1404Arg)
n.154C>A
c.4182C>A (p.Ser1394Arg)
c.4119C>A (p.Ser1373Arg)
c.3117C>A (p.Ser1039Arg)
c.698C>A
c.635C>A
n.2655C>A
c.4221C>A (p.Ser1407Arg)
c.4173C>A (p.Ser1391Arg)
c.4149C>A (p.Ser1383Arg)
c.4209C>A (p.Ser1403Arg)
 dbSNP
17g.31258352C>GCA398997526NF1c.4164C>G (p.Ser1388Arg)
n.288C>G
c.173C>G
n.827C>G
c.4212C>G (p.Ser1404Arg)
n.154C>G
c.4182C>G (p.Ser1394Arg)
c.4119C>G (p.Ser1373Arg)
c.3117C>G (p.Ser1039Arg)
c.698C>G
c.635C>G
n.2655C>G
c.4221C>G (p.Ser1407Arg)
c.4173C>G (p.Ser1391Arg)
c.4149C>G (p.Ser1383Arg)
c.4209C>G (p.Ser1403Arg)
 dbSNP
17g.31258352C>TCA499233386NF1c.4164C>T (p.Ser1388=)
n.288C>T
c.173C>T
n.827C>T
c.4212C>T (p.Ser1404=)
n.154C>T
c.4182C>T (p.Ser1394=)
c.4119C>T (p.Ser1373=)
c.3117C>T (p.Ser1039=)
c.698C>T
c.635C>T
n.2655C>T
c.4221C>T (p.Ser1407=)
c.4173C>T (p.Ser1391=)
c.4149C>T (p.Ser1383=)
c.4209C>T (p.Ser1403=)
 dbSNP
17g.31258353C>ACA398997528NF1c.4165C>A (p.Gln1389Lys)
n.289C>A
c.174C>A
n.828C>A
c.4213C>A (p.Gln1405Lys)
n.155C>A
c.4183C>A (p.Gln1395Lys)
c.4120C>A (p.Gln1374Lys)
c.3118C>A (p.Gln1040Lys)
c.699C>A
c.636C>A
n.2656C>A
c.4222C>A (p.Gln1408Lys)
c.4174C>A (p.Gln1392Lys)
c.4150C>A (p.Gln1384Lys)
c.4210C>A (p.Gln1404Lys)
17g.31258353C=CA2255573362NF1c.4165C= (p.Gln1389=)
n.289C=
c.174C=
n.828C=
c.4213C= (p.Gln1405=)
n.155C=
c.4183C= (p.Gln1395=)
c.4120C= (p.Gln1374=)
c.3118C= (p.Gln1040=)
c.699C=
c.636C=
n.2656C=
c.4222C= (p.Gln1408=)
c.4174C= (p.Gln1392=)
c.4150C= (p.Gln1384=)
c.4210C= (p.Gln1404=)
17g.31258353C>GCA398997532NF1c.4165C>G (p.Gln1389Glu)
n.289C>G
c.174C>G
n.828C>G
c.4213C>G (p.Gln1405Glu)
n.155C>G
c.4183C>G (p.Gln1395Glu)
c.4120C>G (p.Gln1374Glu)
c.3118C>G (p.Gln1040Glu)
c.699C>G
c.636C>G
n.2656C>G
c.4222C>G (p.Gln1408Glu)
c.4174C>G (p.Gln1392Glu)
c.4150C>G (p.Gln1384Glu)
c.4210C>G (p.Gln1404Glu)
 ClinVar dbSNP
17g.31258353C>TCA398997531NF1c.4165C>T (p.Gln1389Ter)
n.289C>T
c.174C>T
n.828C>T
c.4213C>T (p.Gln1405Ter)
n.155C>T
c.4183C>T (p.Gln1395Ter)
c.4120C>T (p.Gln1374Ter)
c.3118C>T (p.Gln1040Ter)
c.699C>T
c.636C>T
n.2656C>T
c.4222C>T (p.Gln1408Ter)
c.4174C>T (p.Gln1392Ter)
c.4150C>T (p.Gln1384Ter)
c.4210C>T (p.Gln1404Ter)
 ClinVar dbSNP
17g.31258354A=CA2255573366NF1c.4166A= (p.Gln1389=)
n.290A=
c.175A=
n.829A=
c.4214A= (p.Gln1405=)
n.156A=
c.4184A= (p.Gln1395=)
c.4121A= (p.Gln1374=)
c.3119A= (p.Gln1040=)
c.700A=
c.637A=
n.2657A=
c.4223A= (p.Gln1408=)
c.4175A= (p.Gln1392=)
c.4151A= (p.Gln1384=)
c.4211A= (p.Gln1404=)
17g.31258354A>CCA398997534NF1c.4166A>C (p.Gln1389Pro)
n.290A>C
c.175A>C
n.829A>C
c.4214A>C (p.Gln1405Pro)
n.156A>C
c.4184A>C (p.Gln1395Pro)
c.4121A>C (p.Gln1374Pro)
c.3119A>C (p.Gln1040Pro)
c.700A>C
c.637A>C
n.2657A>C
c.4223A>C (p.Gln1408Pro)
c.4175A>C (p.Gln1392Pro)
c.4151A>C (p.Gln1384Pro)
c.4211A>C (p.Gln1404Pro)
17g.31258354A>GCA398997535NF1c.4166A>G (p.Gln1389Arg)
n.290A>G
c.175A>G
n.829A>G
c.4214A>G (p.Gln1405Arg)
n.156A>G
c.4184A>G (p.Gln1395Arg)
c.4121A>G (p.Gln1374Arg)
c.3119A>G (p.Gln1040Arg)
c.700A>G
c.637A>G
n.2657A>G
c.4223A>G (p.Gln1408Arg)
c.4175A>G (p.Gln1392Arg)
c.4151A>G (p.Gln1384Arg)
c.4211A>G (p.Gln1404Arg)
 ClinVar dbSNP
17g.31258354A>TCA398997537NF1c.4166A>T (p.Gln1389Leu)
n.290A>T
c.175A>T
n.829A>T
c.4214A>T (p.Gln1405Leu)
n.156A>T
c.4184A>T (p.Gln1395Leu)
c.4121A>T (p.Gln1374Leu)
c.3119A>T (p.Gln1040Leu)
c.700A>T
c.637A>T
n.2657A>T
c.4223A>T (p.Gln1408Leu)
c.4175A>T (p.Gln1392Leu)
c.4151A>T (p.Gln1384Leu)
c.4211A>T (p.Gln1404Leu)
 dbSNP
17g.31258355G>ACA499233389NF1c.4167G>A (p.Gln1389=)
n.291G>A
c.176G>A
n.830G>A
c.4215G>A (p.Gln1405=)
n.157G>A
c.4185G>A (p.Gln1395=)
c.4122G>A (p.Gln1374=)
c.3120G>A (p.Gln1040=)
c.701G>A
c.638G>A
n.2658G>A
c.4224G>A (p.Gln1408=)
c.4176G>A (p.Gln1392=)
c.4152G>A (p.Gln1384=)
c.4212G>A (p.Gln1404=)
 ClinVar dbSNP
17g.31258355G>CCA398997538NF1c.4167G>C (p.Gln1389His)
n.291G>C
c.176G>C
n.830G>C
c.4215G>C (p.Gln1405His)
n.157G>C
c.4185G>C (p.Gln1395His)
c.4122G>C (p.Gln1374His)
c.3120G>C (p.Gln1040His)
c.701G>C
c.638G>C
n.2658G>C
c.4224G>C (p.Gln1408His)
c.4176G>C (p.Gln1392His)
c.4152G>C (p.Gln1384His)
c.4212G>C (p.Gln1404His)
 dbSNP
17g.31258355G=CA2255573375NF1c.4167G= (p.Gln1389=)
n.291G=
c.176G=
n.830G=
c.4215G= (p.Gln1405=)
n.157G=
c.4185G= (p.Gln1395=)
c.4122G= (p.Gln1374=)
c.3120G= (p.Gln1040=)
c.701G=
c.638G=
n.2658G=
c.4224G= (p.Gln1408=)
c.4176G= (p.Gln1392=)
c.4152G= (p.Gln1384=)
c.4212G= (p.Gln1404=)
17g.31258355G>TCA336092NF1c.4167G>T (p.Gln1389His)
n.291G>T
c.176G>T
n.830G>T
c.4215G>T (p.Gln1405His)
n.157G>T
c.4185G>T (p.Gln1395His)
c.4122G>T (p.Gln1374His)
c.3120G>T (p.Gln1040His)
c.701G>T
c.638G>T
n.2658G>T
c.4224G>T (p.Gln1408His)
c.4176G>T (p.Gln1392His)
c.4152G>T (p.Gln1384His)
c.4212G>T (p.Gln1404His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31258355dupCA2255573371NF1c.4167dup (p.Arg1390AlafsTer28)
n.291dup
c.176dup
n.830dup
c.4215dup (p.Arg1406AlafsTer28)
n.157dup
c.4185dup (p.Arg1396AlafsTer28)
c.4122dup (p.Arg1375AlafsTer28)
c.3120dup (p.Arg1041AlafsTer28)
c.701dup
c.638dup
n.2658dup
c.4224dup (p.Arg1409AlafsTer28)
c.4176dup (p.Arg1393AlafsTer28)
c.4152dup (p.Arg1385AlafsTer28)
c.4212dup (p.Arg1405AlafsTer28)
 ClinVar dbSNP
17g.31258356C>ACA398997542NF1c.4168C>A (p.Arg1390Ser)
n.292C>A
c.177C>A
n.831C>A
c.4216C>A (p.Arg1406Ser)
n.158C>A
c.4186C>A (p.Arg1396Ser)
c.4123C>A (p.Arg1375Ser)
c.3121C>A (p.Arg1041Ser)
c.702C>A
c.639C>A
n.2659C>A
c.4225C>A (p.Arg1409Ser)
c.4177C>A (p.Arg1393Ser)
c.4153C>A (p.Arg1385Ser)
c.4213C>A (p.Arg1405Ser)
 dbSNP
17g.31258356C=CA2255573379NF1c.4168C= (p.Arg1390=)
n.292C=
c.177C=
n.831C=
c.4216C= (p.Arg1406=)
n.158C=
c.4186C= (p.Arg1396=)
c.4123C= (p.Arg1375=)
c.3121C= (p.Arg1041=)
c.702C=
c.639C=
n.2659C=
c.4225C= (p.Arg1409=)
c.4177C= (p.Arg1393=)
c.4153C= (p.Arg1385=)
c.4213C= (p.Arg1405=)
17g.31258356C>GCA398997543NF1c.4168C>G (p.Arg1390Gly)
n.292C>G
c.177C>G
n.831C>G
c.4216C>G (p.Arg1406Gly)
n.158C>G
c.4186C>G (p.Arg1396Gly)
c.4123C>G (p.Arg1375Gly)
c.3121C>G (p.Arg1041Gly)
c.702C>G
c.639C>G
n.2659C>G
c.4225C>G (p.Arg1409Gly)
c.4177C>G (p.Arg1393Gly)
c.4153C>G (p.Arg1385Gly)
c.4213C>G (p.Arg1405Gly)
 dbSNP
17g.31258356C>TCA398997547NF1c.4168C>T (p.Arg1390Cys)
n.292C>T
c.177C>T
n.831C>T
c.4216C>T (p.Arg1406Cys)
n.158C>T
c.4186C>T (p.Arg1396Cys)
c.4123C>T (p.Arg1375Cys)
c.3121C>T (p.Arg1041Cys)
c.702C>T
c.639C>T
n.2659C>T
c.4225C>T (p.Arg1409Cys)
c.4177C>T (p.Arg1393Cys)
c.4153C>T (p.Arg1385Cys)
c.4213C>T (p.Arg1405Cys)
 ClinVar dbSNP gnomAD v4
17g.31258357_31258363dupCA2573153577NF1c.4169_4175dup (p.Gln1393PhefsTer27)
n.293_299dup
c.178_184dup
n.832_838dup
c.4217_4223dup (p.Gln1409PhefsTer27)
n.159_165dup
c.4187_4193dup (p.Gln1399PhefsTer27)
c.4124_4130dup (p.Gln1378PhefsTer27)
c.3122_3128dup (p.Gln1044PhefsTer27)
c.703_709dup
c.640_646dup
n.2660_2666dup
c.4226_4232dup (p.Gln1412PhefsTer27)
c.4178_4184dup (p.Gln1396PhefsTer27)
c.4154_4160dup (p.Gln1388PhefsTer27)
c.4214_4220dup (p.Gln1408PhefsTer27)
 ClinVar dbSNP
17g.31258357G>ACA348726NF1c.4169G>A (p.Arg1390His)
n.293G>A
c.178G>A
n.832G>A
c.4217G>A (p.Arg1406His)
n.159G>A
c.4187G>A (p.Arg1396His)
c.4124G>A (p.Arg1375His)
c.3122G>A (p.Arg1041His)
c.703G>A
c.640G>A
n.2660G>A
c.4226G>A (p.Arg1409His)
c.4178G>A (p.Arg1393His)
c.4154G>A (p.Arg1385His)
c.4214G>A (p.Arg1405His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258357G>CCA398997550NF1c.4169G>C (p.Arg1390Pro)
n.293G>C
c.178G>C
n.832G>C
c.4217G>C (p.Arg1406Pro)
n.159G>C
c.4187G>C (p.Arg1396Pro)
c.4124G>C (p.Arg1375Pro)
c.3122G>C (p.Arg1041Pro)
c.703G>C
c.640G>C
n.2660G>C
c.4226G>C (p.Arg1409Pro)
c.4178G>C (p.Arg1393Pro)
c.4154G>C (p.Arg1385Pro)
c.4214G>C (p.Arg1405Pro)
17g.31258357G=CA2255573381NF1c.4169G= (p.Arg1390=)
n.293G=
c.178G=
n.832G=
c.4217G= (p.Arg1406=)
n.159G=
c.4187G= (p.Arg1396=)
c.4124G= (p.Arg1375=)
c.3122G= (p.Arg1041=)
c.703G=
c.640G=
n.2660G=
c.4226G= (p.Arg1409=)
c.4178G= (p.Arg1393=)
c.4154G= (p.Arg1385=)
c.4214G= (p.Arg1405=)
17g.31258357G>TCA398997551NF1c.4169G>T (p.Arg1390Leu)
n.293G>T
c.178G>T
n.832G>T
c.4217G>T (p.Arg1406Leu)
n.159G>T
c.4187G>T (p.Arg1396Leu)
c.4124G>T (p.Arg1375Leu)
c.3122G>T (p.Arg1041Leu)
c.703G>T
c.640G>T
n.2660G>T
c.4226G>T (p.Arg1409Leu)
c.4178G>T (p.Arg1393Leu)
c.4154G>T (p.Arg1385Leu)
c.4214G>T (p.Arg1405Leu)
17g.31258357_31258358dupCA2576223169NF1c.4169_4170dup (p.Phe1391ValfsTer10)
n.293_294dup
c.178_179dup
n.832_833dup
c.4217_4218dup (p.Phe1407ValfsTer10)
n.159_160dup
c.4187_4188dup (p.Phe1397ValfsTer10)
c.4124_4125dup (p.Phe1376ValfsTer10)
c.3122_3123dup (p.Phe1042ValfsTer10)
c.703_704dup
c.640_641dup
n.2660_2661dup
c.4226_4227dup (p.Phe1410ValfsTer10)
c.4178_4179dup (p.Phe1394ValfsTer10)
c.4154_4155dup (p.Phe1386ValfsTer10)
c.4214_4215dup (p.Phe1406ValfsTer10)
17g.31258358T>ACA499233391NF1c.4170T>A (p.Arg1390=)
n.294T>A
c.179T>A
n.833T>A
c.4218T>A (p.Arg1406=)
n.160T>A
c.4188T>A (p.Arg1396=)
c.4125T>A (p.Arg1375=)
c.3123T>A (p.Arg1041=)
c.704T>A
c.641T>A
n.2661T>A
c.4227T>A (p.Arg1409=)
c.4179T>A (p.Arg1393=)
c.4155T>A (p.Arg1385=)
c.4215T>A (p.Arg1405=)
 ClinVar dbSNP
17g.31258358T>CCA499233393NF1c.4170T>C (p.Arg1390=)
n.294T>C
c.179T>C
n.833T>C
c.4218T>C (p.Arg1406=)
n.160T>C
c.4188T>C (p.Arg1396=)
c.4125T>C (p.Arg1375=)
c.3123T>C (p.Arg1041=)
c.704T>C
c.641T>C
n.2661T>C
c.4227T>C (p.Arg1409=)
c.4179T>C (p.Arg1393=)
c.4155T>C (p.Arg1385=)
c.4215T>C (p.Arg1405=)
 dbSNP
17g.31258358T>GCA499233394NF1c.4170T>G (p.Arg1390=)
n.294T>G
c.179T>G
n.833T>G
c.4218T>G (p.Arg1406=)
n.160T>G
c.4188T>G (p.Arg1396=)
c.4125T>G (p.Arg1375=)
c.3123T>G (p.Arg1041=)
c.704T>G
c.641T>G
n.2661T>G
c.4227T>G (p.Arg1409=)
c.4179T>G (p.Arg1393=)
c.4155T>G (p.Arg1385=)
c.4215T>G (p.Arg1405=)
 dbSNP
17g.31258358T=CA2255573384NF1c.4170T= (p.Arg1390=)
n.294T=
c.179T=
n.833T=
c.4218T= (p.Arg1406=)
n.160T=
c.4188T= (p.Arg1396=)
c.4125T= (p.Arg1375=)
c.3123T= (p.Arg1041=)
c.704T=
c.641T=
n.2661T=
c.4227T= (p.Arg1409=)
c.4179T= (p.Arg1393=)
c.4155T= (p.Arg1385=)
c.4215T= (p.Arg1405=)
17g.31258360dupCA2499224124NF1c.4172dup (p.Gln1393SerfsTer25)
n.296dup
c.181dup
n.835dup
c.4220dup (p.Gln1409SerfsTer25)
n.162dup
c.4190dup (p.Gln1399SerfsTer25)
c.4127dup (p.Gln1378SerfsTer25)
c.3125dup (p.Gln1044SerfsTer25)
c.706dup
c.643dup
n.2663dup
c.4229dup (p.Gln1412SerfsTer25)
c.4181dup (p.Gln1396SerfsTer25)
c.4157dup (p.Gln1388SerfsTer25)
c.4217dup (p.Gln1408SerfsTer25)
 ClinVar dbSNP
17g.31258360delCA2697559737NF1c.4172del (p.Phe1391SerfsTer9)
n.296del
c.181del
n.835del
c.4220del (p.Phe1407SerfsTer9)
n.162del
c.4190del (p.Phe1397SerfsTer9)
c.4127del (p.Phe1376SerfsTer9)
c.3125del (p.Phe1042SerfsTer9)
c.706del
c.643del
n.2663del
c.4229del (p.Phe1410SerfsTer9)
c.4181del (p.Phe1394SerfsTer9)
c.4157del (p.Phe1386SerfsTer9)
c.4217del (p.Phe1406SerfsTer9)
 ClinVar
17g.31258359T>ACA398997553NF1c.4171T>A (p.Phe1391Ile)
n.295T>A
c.180T>A
n.834T>A
c.4219T>A (p.Phe1407Ile)
n.161T>A
c.4189T>A (p.Phe1397Ile)
c.4126T>A (p.Phe1376Ile)
c.3124T>A (p.Phe1042Ile)
c.705T>A
c.642T>A
n.2662T>A
c.4228T>A (p.Phe1410Ile)
c.4180T>A (p.Phe1394Ile)
c.4156T>A (p.Phe1386Ile)
c.4216T>A (p.Phe1406Ile)
 dbSNP
17g.31258359T>CCA398997557NF1c.4171T>C (p.Phe1391Leu)
n.295T>C
c.180T>C
n.834T>C
c.4219T>C (p.Phe1407Leu)
n.161T>C
c.4189T>C (p.Phe1397Leu)
c.4126T>C (p.Phe1376Leu)
c.3124T>C (p.Phe1042Leu)
c.705T>C
c.642T>C
n.2662T>C
c.4228T>C (p.Phe1410Leu)
c.4180T>C (p.Phe1394Leu)
c.4156T>C (p.Phe1386Leu)
c.4216T>C (p.Phe1406Leu)
 dbSNP
17g.31258359T>GCA398997555NF1c.4171T>G (p.Phe1391Val)
n.295T>G
c.180T>G
n.834T>G
c.4219T>G (p.Phe1407Val)
n.161T>G
c.4189T>G (p.Phe1397Val)
c.4126T>G (p.Phe1376Val)
c.3124T>G (p.Phe1042Val)
c.705T>G
c.642T>G
n.2662T>G
c.4228T>G (p.Phe1410Val)
c.4180T>G (p.Phe1394Val)
c.4156T>G (p.Phe1386Val)
c.4216T>G (p.Phe1406Val)
17g.31258360T>ACA8486364NF1c.4172T>A (p.Phe1391Tyr)
n.296T>A
c.181T>A
n.835T>A
c.4220T>A (p.Phe1407Tyr)
n.162T>A
c.4190T>A (p.Phe1397Tyr)
c.4127T>A (p.Phe1376Tyr)
c.3125T>A (p.Phe1042Tyr)
c.706T>A
c.643T>A
n.2663T>A
c.4229T>A (p.Phe1410Tyr)
c.4181T>A (p.Phe1394Tyr)
c.4157T>A (p.Phe1386Tyr)
c.4217T>A (p.Phe1406Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258360T>CCA398997563NF1c.4172T>C (p.Phe1391Ser)
n.296T>C
c.181T>C
n.835T>C
c.4220T>C (p.Phe1407Ser)
n.162T>C
c.4190T>C (p.Phe1397Ser)
c.4127T>C (p.Phe1376Ser)
c.3125T>C (p.Phe1042Ser)
c.706T>C
c.643T>C
n.2663T>C
c.4229T>C (p.Phe1410Ser)
c.4181T>C (p.Phe1394Ser)
c.4157T>C (p.Phe1386Ser)
c.4217T>C (p.Phe1406Ser)
 dbSNP
17g.31258360T>GCA398997566NF1c.4172T>G (p.Phe1391Cys)
n.296T>G
c.181T>G
n.835T>G
c.4220T>G (p.Phe1407Cys)
n.162T>G
c.4190T>G (p.Phe1397Cys)
c.4127T>G (p.Phe1376Cys)
c.3125T>G (p.Phe1042Cys)
c.706T>G
c.643T>G
n.2663T>G
c.4229T>G (p.Phe1410Cys)
c.4181T>G (p.Phe1394Cys)
c.4157T>G (p.Phe1386Cys)
c.4217T>G (p.Phe1406Cys)
 gnomAD v4
17g.31258360T=CA2255573387NF1c.4172T= (p.Phe1391=)
n.296T=
c.181T=
n.835T=
c.4220T= (p.Phe1407=)
n.162T=
c.4190T= (p.Phe1397=)
c.4127T= (p.Phe1376=)
c.3125T= (p.Phe1042=)
c.706T=
c.643T=
n.2663T=
c.4229T= (p.Phe1410=)
c.4181T= (p.Phe1394=)
c.4157T= (p.Phe1386=)
c.4217T= (p.Phe1406=)
17g.31258361C>ACA398997567NF1c.4173C>A (p.Phe1391Leu)
n.297C>A
c.182C>A
n.836C>A
c.4221C>A (p.Phe1407Leu)
n.163C>A
c.4191C>A (p.Phe1397Leu)
c.4128C>A (p.Phe1376Leu)
c.3126C>A (p.Phe1042Leu)
c.707C>A
c.644C>A
n.2664C>A
c.4230C>A (p.Phe1410Leu)
c.4182C>A (p.Phe1394Leu)
c.4158C>A (p.Phe1386Leu)
c.4218C>A (p.Phe1406Leu)
 ClinVar dbSNP
17g.31258361C=CA2255573391NF1c.4173C= (p.Phe1391=)
n.297C=
c.182C=
n.836C=
c.4221C= (p.Phe1407=)
n.163C=
c.4191C= (p.Phe1397=)
c.4128C= (p.Phe1376=)
c.3126C= (p.Phe1042=)
c.707C=
c.644C=
n.2664C=
c.4230C= (p.Phe1410=)
c.4182C= (p.Phe1394=)
c.4158C= (p.Phe1386=)
c.4218C= (p.Phe1406=)
17g.31258361C>GCA398997568NF1c.4173C>G (p.Phe1391Leu)
n.297C>G
c.182C>G
n.836C>G
c.4221C>G (p.Phe1407Leu)
n.163C>G
c.4191C>G (p.Phe1397Leu)
c.4128C>G (p.Phe1376Leu)
c.3126C>G (p.Phe1042Leu)
c.707C>G
c.644C>G
n.2664C>G
c.4230C>G (p.Phe1410Leu)
c.4182C>G (p.Phe1394Leu)
c.4158C>G (p.Phe1386Leu)
c.4218C>G (p.Phe1406Leu)
 ClinVar dbSNP
17g.31258361C>TCA499233395NF1c.4173C>T (p.Phe1391=)
n.297C>T
c.182C>T
n.836C>T
c.4221C>T (p.Phe1407=)
n.163C>T
c.4191C>T (p.Phe1397=)
c.4128C>T (p.Phe1376=)
c.3126C>T (p.Phe1042=)
c.707C>T
c.644C>T
n.2664C>T
c.4230C>T (p.Phe1410=)
c.4182C>T (p.Phe1394=)
c.4158C>T (p.Phe1386=)
c.4218C>T (p.Phe1406=)
 dbSNP
17g.31258363dupCA2255573390NF1c.4175dup (p.Gln1393SerfsTer25)
n.299dup
c.184dup
n.838dup
c.4223dup (p.Gln1409SerfsTer25)
n.165dup
c.4193dup (p.Gln1399SerfsTer25)
c.4130dup (p.Gln1378SerfsTer25)
c.3128dup (p.Gln1044SerfsTer25)
c.709dup
c.646dup
n.2666dup
c.4232dup (p.Gln1412SerfsTer25)
c.4184dup (p.Gln1396SerfsTer25)
c.4160dup (p.Gln1388SerfsTer25)
c.4220dup (p.Gln1408SerfsTer25)
 ClinVar dbSNP
17g.31258362_31258363dupCA2831039626NF1c.4174_4175dup (p.Gln1393LeufsTer8)
n.298_299dup
c.183_184dup
n.837_838dup
c.4222_4223dup (p.Gln1409LeufsTer8)
n.164_165dup
c.4192_4193dup (p.Gln1399LeufsTer8)
c.4129_4130dup (p.Gln1378LeufsTer8)
c.3127_3128dup (p.Gln1044LeufsTer8)
c.708_709dup
c.645_646dup
n.2665_2666dup
c.4231_4232dup (p.Gln1412LeufsTer8)
c.4183_4184dup (p.Gln1396LeufsTer8)
c.4159_4160dup (p.Gln1388LeufsTer8)
c.4219_4220dup (p.Gln1408LeufsTer8)
17g.31258362C>ACA398997569NF1c.4174C>A (p.Pro1392Thr)
n.298C>A
c.183C>A
n.837C>A
c.4222C>A (p.Pro1408Thr)
n.164C>A
c.4192C>A (p.Pro1398Thr)
c.4129C>A (p.Pro1377Thr)
c.3127C>A (p.Pro1043Thr)
c.708C>A
c.645C>A
n.2665C>A
c.4231C>A (p.Pro1411Thr)
c.4183C>A (p.Pro1395Thr)
c.4159C>A (p.Pro1387Thr)
c.4219C>A (p.Pro1407Thr)
 dbSNP
17g.31258362C>GCA398997570NF1c.4174C>G (p.Pro1392Ala)
n.298C>G
c.183C>G
n.837C>G
c.4222C>G (p.Pro1408Ala)
n.164C>G
c.4192C>G (p.Pro1398Ala)
c.4129C>G (p.Pro1377Ala)
c.3127C>G (p.Pro1043Ala)
c.708C>G
c.645C>G
n.2665C>G
c.4231C>G (p.Pro1411Ala)
c.4183C>G (p.Pro1395Ala)
c.4159C>G (p.Pro1387Ala)
c.4219C>G (p.Pro1407Ala)
 dbSNP
17g.31258362C>TCA398997572NF1c.4174C>T (p.Pro1392Ser)
n.298C>T
c.183C>T
n.837C>T
c.4222C>T (p.Pro1408Ser)
n.164C>T
c.4192C>T (p.Pro1398Ser)
c.4129C>T (p.Pro1377Ser)
c.3127C>T (p.Pro1043Ser)
c.708C>T
c.645C>T
n.2665C>T
c.4231C>T (p.Pro1411Ser)
c.4183C>T (p.Pro1395Ser)
c.4159C>T (p.Pro1387Ser)
c.4219C>T (p.Pro1407Ser)
 ClinVar dbSNP gnomAD v4
17g.31258363_31258373delCA2697559738NF1c.4175_4185del (p.Pro1392HisfsTer22)
n.299_309del
c.184_194del
n.838_848del
c.4223_4233del (p.Pro1408HisfsTer22)
n.165_175del
c.4193_4203del (p.Pro1398HisfsTer22)
c.4130_4140del (p.Pro1377HisfsTer22)
c.3128_3138del (p.Pro1043HisfsTer22)
c.709_719del
c.646_656del
n.2666_2676del
c.4232_4242del (p.Pro1411HisfsTer22)
c.4184_4194del (p.Pro1395HisfsTer22)
c.4160_4170del (p.Pro1387HisfsTer22)
c.4220_4230del (p.Pro1407HisfsTer22)
 ClinVar
17g.31258363C>ACA398997574NF1c.4175C>A (p.Pro1392His)
n.299C>A
c.184C>A
n.838C>A
c.4223C>A (p.Pro1408His)
n.165C>A
c.4193C>A (p.Pro1398His)
c.4130C>A (p.Pro1377His)
c.3128C>A (p.Pro1043His)
c.709C>A
c.646C>A
n.2666C>A
c.4232C>A (p.Pro1411His)
c.4184C>A (p.Pro1395His)
c.4160C>A (p.Pro1387His)
c.4220C>A (p.Pro1407His)
 dbSNP
17g.31258363C=CA2255573394NF1c.4175C= (p.Pro1392=)
n.299C=
c.184C=
n.838C=
c.4223C= (p.Pro1408=)
n.165C=
c.4193C= (p.Pro1398=)
c.4130C= (p.Pro1377=)
c.3128C= (p.Pro1043=)
c.709C=
c.646C=
n.2666C=
c.4232C= (p.Pro1411=)
c.4184C= (p.Pro1395=)
c.4160C= (p.Pro1387=)
c.4220C= (p.Pro1407=)
17g.31258363C>GCA398997577NF1c.4175C>G (p.Pro1392Arg)
n.299C>G
c.184C>G
n.838C>G
c.4223C>G (p.Pro1408Arg)
n.165C>G
c.4193C>G (p.Pro1398Arg)
c.4130C>G (p.Pro1377Arg)
c.3128C>G (p.Pro1043Arg)
c.709C>G
c.646C>G
n.2666C>G
c.4232C>G (p.Pro1411Arg)
c.4184C>G (p.Pro1395Arg)
c.4160C>G (p.Pro1387Arg)
c.4220C>G (p.Pro1407Arg)
 dbSNP
17g.31258363C>TCA348120NF1c.4175C>T (p.Pro1392Leu)
n.299C>T
c.184C>T
n.838C>T
c.4223C>T (p.Pro1408Leu)
n.165C>T
c.4193C>T (p.Pro1398Leu)
c.4130C>T (p.Pro1377Leu)
c.3128C>T (p.Pro1043Leu)
c.709C>T
c.646C>T
n.2666C>T
c.4232C>T (p.Pro1411Leu)
c.4184C>T (p.Pro1395Leu)
c.4160C>T (p.Pro1387Leu)
c.4220C>T (p.Pro1407Leu)
 ClinVar dbSNP gnomAD v4
17g.31258364T>ACA499233398NF1c.4176T>A (p.Pro1392=)
n.300T>A
c.185T>A
n.839T>A
c.4224T>A (p.Pro1408=)
n.166T>A
c.4194T>A (p.Pro1398=)
c.4131T>A (p.Pro1377=)
c.3129T>A (p.Pro1043=)
c.710T>A
c.647T>A
n.2667T>A
c.4233T>A (p.Pro1411=)
c.4185T>A (p.Pro1395=)
c.4161T>A (p.Pro1387=)
c.4221T>A (p.Pro1407=)
 dbSNP
17g.31258364T>CCA499233399NF1c.4176T>C (p.Pro1392=)
n.300T>C
c.185T>C
n.839T>C
c.4224T>C (p.Pro1408=)
n.166T>C
c.4194T>C (p.Pro1398=)
c.4131T>C (p.Pro1377=)
c.3129T>C (p.Pro1043=)
c.710T>C
c.647T>C
n.2667T>C
c.4233T>C (p.Pro1411=)
c.4185T>C (p.Pro1395=)
c.4161T>C (p.Pro1387=)
c.4221T>C (p.Pro1407=)
 dbSNP
17g.31258364T>GCA499233400NF1c.4176T>G (p.Pro1392=)
n.300T>G
c.185T>G
n.839T>G
c.4224T>G (p.Pro1408=)
n.166T>G
c.4194T>G (p.Pro1398=)
c.4131T>G (p.Pro1377=)
c.3129T>G (p.Pro1043=)
c.710T>G
c.647T>G
n.2667T>G
c.4233T>G (p.Pro1411=)
c.4185T>G (p.Pro1395=)
c.4161T>G (p.Pro1387=)
c.4221T>G (p.Pro1407=)
17g.31258365delCA2580092817NF1c.4177del (p.Gln1393ArgfsTer7)
n.301del
c.186del
n.840del
c.4225del (p.Gln1409ArgfsTer7)
n.167del
c.4195del (p.Gln1399ArgfsTer7)
c.4132del (p.Gln1378ArgfsTer7)
c.3130del (p.Gln1044ArgfsTer7)
c.711del
c.648del
n.2668del
c.4234del (p.Gln1412ArgfsTer7)
c.4186del (p.Gln1396ArgfsTer7)
c.4162del (p.Gln1388ArgfsTer7)
c.4222del (p.Gln1408ArgfsTer7)
 ClinVar
17g.31258365C>ACA398997589NF1c.4177C>A (p.Gln1393Lys)
n.301C>A
c.186C>A
n.840C>A
c.4225C>A (p.Gln1409Lys)
n.167C>A
c.4195C>A (p.Gln1399Lys)
c.4132C>A (p.Gln1378Lys)
c.3130C>A (p.Gln1044Lys)
c.711C>A
c.648C>A
n.2668C>A
c.4234C>A (p.Gln1412Lys)
c.4186C>A (p.Gln1396Lys)
c.4162C>A (p.Gln1388Lys)
c.4222C>A (p.Gln1408Lys)
17g.31258365C=CA2255573396NF1c.4177C= (p.Gln1393=)
n.301C=
c.186C=
n.840C=
c.4225C= (p.Gln1409=)
n.167C=
c.4195C= (p.Gln1399=)
c.4132C= (p.Gln1378=)
c.3130C= (p.Gln1044=)
c.711C=
c.648C=
n.2668C=
c.4234C= (p.Gln1412=)
c.4186C= (p.Gln1396=)
c.4162C= (p.Gln1388=)
c.4222C= (p.Gln1408=)
17g.31258365C>GCA398997585NF1c.4177C>G (p.Gln1393Glu)
n.301C>G
c.186C>G
n.840C>G
c.4225C>G (p.Gln1409Glu)
n.167C>G
c.4195C>G (p.Gln1399Glu)
c.4132C>G (p.Gln1378Glu)
c.3130C>G (p.Gln1044Glu)
c.711C>G
c.648C>G
n.2668C>G
c.4234C>G (p.Gln1412Glu)
c.4186C>G (p.Gln1396Glu)
c.4162C>G (p.Gln1388Glu)
c.4222C>G (p.Gln1408Glu)
 dbSNP
17g.31258365C>TCA398997588NF1c.4177C>T (p.Gln1393Ter)
n.301C>T
c.186C>T
n.840C>T
c.4225C>T (p.Gln1409Ter)
n.167C>T
c.4195C>T (p.Gln1399Ter)
c.4132C>T (p.Gln1378Ter)
c.3130C>T (p.Gln1044Ter)
c.711C>T
c.648C>T
n.2668C>T
c.4234C>T (p.Gln1412Ter)
c.4186C>T (p.Gln1396Ter)
c.4162C>T (p.Gln1388Ter)
c.4222C>T (p.Gln1408Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31258366A>CCA398997590NF1c.4178A>C (p.Gln1393Pro)
n.302A>C
c.187A>C
n.841A>C
c.4226A>C (p.Gln1409Pro)
n.168A>C
c.4196A>C (p.Gln1399Pro)
c.4133A>C (p.Gln1378Pro)
c.3131A>C (p.Gln1044Pro)
c.712A>C
c.649A>C
n.2669A>C
c.4235A>C (p.Gln1412Pro)
c.4187A>C (p.Gln1396Pro)
c.4163A>C (p.Gln1388Pro)
c.4223A>C (p.Gln1408Pro)
17g.31258366A>GCA398997591NF1c.4178A>G (p.Gln1393Arg)
n.302A>G
c.187A>G
n.841A>G
c.4226A>G (p.Gln1409Arg)
n.168A>G
c.4196A>G (p.Gln1399Arg)
c.4133A>G (p.Gln1378Arg)
c.3131A>G (p.Gln1044Arg)
c.712A>G
c.649A>G
n.2669A>G
c.4235A>G (p.Gln1412Arg)
c.4187A>G (p.Gln1396Arg)
c.4163A>G (p.Gln1388Arg)
c.4223A>G (p.Gln1408Arg)
 ClinVar gnomAD v4
17g.31258366A>TCA398997594NF1c.4178A>T (p.Gln1393Leu)
n.302A>T
c.187A>T
n.841A>T
c.4226A>T (p.Gln1409Leu)
n.168A>T
c.4196A>T (p.Gln1399Leu)
c.4133A>T (p.Gln1378Leu)
c.3131A>T (p.Gln1044Leu)
c.712A>T
c.649A>T
n.2669A>T
c.4235A>T (p.Gln1412Leu)
c.4187A>T (p.Gln1396Leu)
c.4163A>T (p.Gln1388Leu)
c.4223A>T (p.Gln1408Leu)
 dbSNP
17g.31258367_31258368delCA2695225651NF1c.4179_4180del (p.Asn1394GlnfsTer23)
n.303_304del
c.188_189del
n.842_843del
c.4227_4228del (p.Asn1410GlnfsTer23)
n.169_170del
c.4197_4198del (p.Asn1400GlnfsTer23)
c.4134_4135del (p.Asn1379GlnfsTer23)
c.3132_3133del (p.Asn1045GlnfsTer23)
c.713_714del
c.650_651del
n.2670_2671del
c.4236_4237del (p.Asn1413GlnfsTer23)
c.4188_4189del (p.Asn1397GlnfsTer23)
c.4164_4165del (p.Asn1389GlnfsTer23)
c.4224_4225del (p.Asn1409GlnfsTer23)
17g.31258367G>ACA499233402NF1c.4179G>A (p.Gln1393=)
n.303G>A
c.188G>A
n.842G>A
c.4227G>A (p.Gln1409=)
n.169G>A
c.4197G>A (p.Gln1399=)
c.4134G>A (p.Gln1378=)
c.3132G>A (p.Gln1044=)
c.713G>A
c.650G>A
n.2670G>A
c.4236G>A (p.Gln1412=)
c.4188G>A (p.Gln1396=)
c.4164G>A (p.Gln1388=)
c.4224G>A (p.Gln1408=)
 dbSNP
17g.31258367G>CCA398997597NF1c.4179G>C (p.Gln1393His)
n.303G>C
c.188G>C
n.842G>C
c.4227G>C (p.Gln1409His)
n.169G>C
c.4197G>C (p.Gln1399His)
c.4134G>C (p.Gln1378His)
c.3132G>C (p.Gln1044His)
c.713G>C
c.650G>C
n.2670G>C
c.4236G>C (p.Gln1412His)
c.4188G>C (p.Gln1396His)
c.4164G>C (p.Gln1388His)
c.4224G>C (p.Gln1408His)
 ClinVar dbSNP
17g.31258367G=CA2255573398NF1c.4179G= (p.Gln1393=)
n.303G=
c.188G=
n.842G=
c.4227G= (p.Gln1409=)
n.169G=
c.4197G= (p.Gln1399=)
c.4134G= (p.Gln1378=)
c.3132G= (p.Gln1044=)
c.713G=
c.650G=
n.2670G=
c.4236G= (p.Gln1412=)
c.4188G= (p.Gln1396=)
c.4164G= (p.Gln1388=)
c.4224G= (p.Gln1408=)
17g.31258367G>TCA398997598NF1c.4179G>T (p.Gln1393His)
n.303G>T
c.188G>T
n.842G>T
c.4227G>T (p.Gln1409His)
n.169G>T
c.4197G>T (p.Gln1399His)
c.4134G>T (p.Gln1378His)
c.3132G>T (p.Gln1044His)
c.713G>T
c.650G>T
n.2670G>T
c.4236G>T (p.Gln1412His)
c.4188G>T (p.Gln1396His)
c.4164G>T (p.Gln1388His)
c.4224G>T (p.Gln1408His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.31258368A>CCA398997600NF1c.4180A>C (p.Asn1394His)
n.304A>C
c.189A>C
n.843A>C
c.4228A>C (p.Asn1410His)
n.170A>C
c.4198A>C (p.Asn1400His)
c.4135A>C (p.Asn1379His)
c.3133A>C (p.Asn1045His)
c.714A>C
c.651A>C
n.2671A>C
c.4237A>C (p.Asn1413His)
c.4189A>C (p.Asn1397His)
c.4165A>C (p.Asn1389His)
c.4225A>C (p.Asn1409His)
17g.31258368A>GCA398997602NF1c.4180A>G (p.Asn1394Asp)
n.304A>G
c.189A>G
n.843A>G
c.4228A>G (p.Asn1410Asp)
n.170A>G
c.4198A>G (p.Asn1400Asp)
c.4135A>G (p.Asn1379Asp)
c.3133A>G (p.Asn1045Asp)
c.714A>G
c.651A>G
n.2671A>G
c.4237A>G (p.Asn1413Asp)
c.4189A>G (p.Asn1397Asp)
c.4165A>G (p.Asn1389Asp)
c.4225A>G (p.Asn1409Asp)
 ClinVar
17g.31258368A>TCA398997604NF1c.4180A>T (p.Asn1394Tyr)
n.304A>T
c.189A>T
n.843A>T
c.4228A>T (p.Asn1410Tyr)
n.170A>T
c.4198A>T (p.Asn1400Tyr)
c.4135A>T (p.Asn1379Tyr)
c.3133A>T (p.Asn1045Tyr)
c.714A>T
c.651A>T
n.2671A>T
c.4237A>T (p.Asn1413Tyr)
c.4189A>T (p.Asn1397Tyr)
c.4165A>T (p.Asn1389Tyr)
c.4225A>T (p.Asn1409Tyr)
 dbSNP
17g.31258369A>CCA398997607NF1c.4181A>C (p.Asn1394Thr)
n.305A>C
c.190A>C
n.844A>C
c.4229A>C (p.Asn1410Thr)
n.171A>C
c.4199A>C (p.Asn1400Thr)
c.4136A>C (p.Asn1379Thr)
c.3134A>C (p.Asn1045Thr)
c.715A>C
c.652A>C
n.2672A>C
c.4238A>C (p.Asn1413Thr)
c.4190A>C (p.Asn1397Thr)
c.4166A>C (p.Asn1389Thr)
c.4226A>C (p.Asn1409Thr)
 dbSNP
17g.31258369A>GCA398997610NF1c.4181A>G (p.Asn1394Ser)
n.305A>G
c.190A>G
n.844A>G
c.4229A>G (p.Asn1410Ser)
n.171A>G
c.4199A>G (p.Asn1400Ser)
c.4136A>G (p.Asn1379Ser)
c.3134A>G (p.Asn1045Ser)
c.715A>G
c.652A>G
n.2672A>G
c.4238A>G (p.Asn1413Ser)
c.4190A>G (p.Asn1397Ser)
c.4166A>G (p.Asn1389Ser)
c.4226A>G (p.Asn1409Ser)
 ClinVar
17g.31258369A>TCA398997612NF1c.4181A>T (p.Asn1394Ile)
n.305A>T
c.190A>T
n.844A>T
c.4229A>T (p.Asn1410Ile)
n.171A>T
c.4199A>T (p.Asn1400Ile)
c.4136A>T (p.Asn1379Ile)
c.3134A>T (p.Asn1045Ile)
c.715A>T
c.652A>T
n.2672A>T
c.4238A>T (p.Asn1413Ile)
c.4190A>T (p.Asn1397Ile)
c.4166A>T (p.Asn1389Ile)
c.4226A>T (p.Asn1409Ile)
 dbSNP
17g.31258370C>ACA398997618NF1c.4182C>A (p.Asn1394Lys)
n.306C>A
c.191C>A
n.845C>A
c.4230C>A (p.Asn1410Lys)
n.172C>A
c.4200C>A (p.Asn1400Lys)
c.4137C>A (p.Asn1379Lys)
c.3135C>A (p.Asn1045Lys)
c.716C>A
c.653C>A
n.2673C>A
c.4239C>A (p.Asn1413Lys)
c.4191C>A (p.Asn1397Lys)
c.4167C>A (p.Asn1389Lys)
c.4227C>A (p.Asn1409Lys)
17g.31258370C>GCA398997615NF1c.4182C>G (p.Asn1394Lys)
n.306C>G
c.191C>G
n.845C>G
c.4230C>G (p.Asn1410Lys)
n.172C>G
c.4200C>G (p.Asn1400Lys)
c.4137C>G (p.Asn1379Lys)
c.3135C>G (p.Asn1045Lys)
c.716C>G
c.653C>G
n.2673C>G
c.4239C>G (p.Asn1413Lys)
c.4191C>G (p.Asn1397Lys)
c.4167C>G (p.Asn1389Lys)
c.4227C>G (p.Asn1409Lys)
 ClinVar dbSNP
17g.31258370C>TCA499233405NF1c.4182C>T (p.Asn1394=)
n.306C>T
c.191C>T
n.845C>T
c.4230C>T (p.Asn1410=)
n.172C>T
c.4200C>T (p.Asn1400=)
c.4137C>T (p.Asn1379=)
c.3135C>T (p.Asn1045=)
c.716C>T
c.653C>T
n.2673C>T
c.4239C>T (p.Asn1413=)
c.4191C>T (p.Asn1397=)
c.4167C>T (p.Asn1389=)
c.4227C>T (p.Asn1409=)
 ClinVar dbSNP gnomAD v4
17g.31258371A=CA2255573401NF1c.4183A= (p.Ser1395=)
n.307A=
c.192A=
n.846A=
c.4231A= (p.Ser1411=)
n.173A=
c.4201A= (p.Ser1401=)
c.4138A= (p.Ser1380=)
c.3136A= (p.Ser1046=)
c.717A=
c.654A=
n.2674A=
c.4240A= (p.Ser1414=)
c.4192A= (p.Ser1398=)
c.4168A= (p.Ser1390=)
c.4228A= (p.Ser1410=)
17g.31258371A>CCA398997625NF1c.4183A>C (p.Ser1395Arg)
n.307A>C
c.192A>C
n.846A>C
c.4231A>C (p.Ser1411Arg)
n.173A>C
c.4201A>C (p.Ser1401Arg)
c.4138A>C (p.Ser1380Arg)
c.3136A>C (p.Ser1046Arg)
c.717A>C
c.654A>C
n.2674A>C
c.4240A>C (p.Ser1414Arg)
c.4192A>C (p.Ser1398Arg)
c.4168A>C (p.Ser1390Arg)
c.4228A>C (p.Ser1410Arg)
17g.31258371A>GCA398997627NF1c.4183A>G (p.Ser1395Gly)
n.307A>G
c.192A>G
n.846A>G
c.4231A>G (p.Ser1411Gly)
n.173A>G
c.4201A>G (p.Ser1401Gly)
c.4138A>G (p.Ser1380Gly)
c.3136A>G (p.Ser1046Gly)
c.717A>G
c.654A>G
n.2674A>G
c.4240A>G (p.Ser1414Gly)
c.4192A>G (p.Ser1398Gly)
c.4168A>G (p.Ser1390Gly)
c.4228A>G (p.Ser1410Gly)
 ClinVar dbSNP
17g.31258371A>TCA16615204NF1c.4183A>T (p.Ser1395Cys)
n.307A>T
c.192A>T
n.846A>T
c.4231A>T (p.Ser1411Cys)
n.173A>T
c.4201A>T (p.Ser1401Cys)
c.4138A>T (p.Ser1380Cys)
c.3136A>T (p.Ser1046Cys)
c.717A>T
c.654A>T
n.2674A>T
c.4240A>T (p.Ser1414Cys)
c.4192A>T (p.Ser1398Cys)
c.4168A>T (p.Ser1390Cys)
c.4228A>T (p.Ser1410Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31258372G>ACA398997630NF1c.4184G>A (p.Ser1395Asn)
n.308G>A
c.193G>A
n.847G>A
c.4232G>A (p.Ser1411Asn)
n.174G>A
c.4202G>A (p.Ser1401Asn)
c.4139G>A (p.Ser1380Asn)
c.3137G>A (p.Ser1046Asn)
c.718G>A
c.655G>A
n.2675G>A
c.4241G>A (p.Ser1414Asn)
c.4193G>A (p.Ser1398Asn)
c.4169G>A (p.Ser1390Asn)
c.4229G>A (p.Ser1410Asn)
 ClinVar dbSNP
17g.31258372G>CCA16615508NF1c.4184G>C (p.Ser1395Thr)
n.308G>C
c.193G>C
n.847G>C
c.4232G>C (p.Ser1411Thr)
n.174G>C
c.4202G>C (p.Ser1401Thr)
c.4139G>C (p.Ser1380Thr)
c.3137G>C (p.Ser1046Thr)
c.718G>C
c.655G>C
n.2675G>C
c.4241G>C (p.Ser1414Thr)
c.4193G>C (p.Ser1398Thr)
c.4169G>C (p.Ser1390Thr)
c.4229G>C (p.Ser1410Thr)
 ClinVar dbSNP
17g.31258372G=CA2255573406NF1c.4184G= (p.Ser1395=)
n.308G=
c.193G=
n.847G=
c.4232G= (p.Ser1411=)
n.174G=
c.4202G= (p.Ser1401=)
c.4139G= (p.Ser1380=)
c.3137G= (p.Ser1046=)
c.718G=
c.655G=
n.2675G=
c.4241G= (p.Ser1414=)
c.4193G= (p.Ser1398=)
c.4169G= (p.Ser1390=)
c.4229G= (p.Ser1410=)
17g.31258372G>TCA16615510NF1c.4184G>T (p.Ser1395Ile)
n.308G>T
c.193G>T
n.847G>T
c.4232G>T (p.Ser1411Ile)
n.174G>T
c.4202G>T (p.Ser1401Ile)
c.4139G>T (p.Ser1380Ile)
c.3137G>T (p.Ser1046Ile)
c.718G>T
c.655G>T
n.2675G>T
c.4241G>T (p.Ser1414Ile)
c.4193G>T (p.Ser1398Ile)
c.4169G>T (p.Ser1390Ile)
c.4229G>T (p.Ser1410Ile)
 ClinVar dbSNP
17g.31258373C>ACA398997641NF1c.4185C>A (p.Ser1395Arg)
n.309C>A
c.194C>A
n.848C>A
c.4233C>A (p.Ser1411Arg)
n.175C>A
c.4203C>A (p.Ser1401Arg)
c.4140C>A (p.Ser1380Arg)
c.3138C>A (p.Ser1046Arg)
c.719C>A
c.656C>A
n.2676C>A
c.4242C>A (p.Ser1414Arg)
c.4194C>A (p.Ser1398Arg)
c.4170C>A (p.Ser1390Arg)
c.4230C>A (p.Ser1410Arg)
 dbSNP
17g.31258373C=CA2255573409NF1c.4185C= (p.Ser1395=)
n.309C=
c.194C=
n.848C=
c.4233C= (p.Ser1411=)
n.175C=
c.4203C= (p.Ser1401=)
c.4140C= (p.Ser1380=)
c.3138C= (p.Ser1046=)
c.719C=
c.656C=
n.2676C=
c.4242C= (p.Ser1414=)
c.4194C= (p.Ser1398=)
c.4170C= (p.Ser1390=)
c.4230C= (p.Ser1410=)
17g.31258373C>GCA398997644NF1c.4185C>G (p.Ser1395Arg)
n.309C>G
c.194C>G
n.848C>G
c.4233C>G (p.Ser1411Arg)
n.175C>G
c.4203C>G (p.Ser1401Arg)
c.4140C>G (p.Ser1380Arg)
c.3138C>G (p.Ser1046Arg)
c.719C>G
c.656C>G
n.2676C>G
c.4242C>G (p.Ser1414Arg)
c.4194C>G (p.Ser1398Arg)
c.4170C>G (p.Ser1390Arg)
c.4230C>G (p.Ser1410Arg)
 dbSNP
17g.31258373C>TCA289350505NF1c.4185C>T (p.Ser1395=)
n.309C>T
c.194C>T
n.848C>T
c.4233C>T (p.Ser1411=)
n.175C>T
c.4203C>T (p.Ser1401=)
c.4140C>T (p.Ser1380=)
c.3138C>T (p.Ser1046=)
c.719C>T
c.656C>T
n.2676C>T
c.4242C>T (p.Ser1414=)
c.4194C>T (p.Ser1398=)
c.4170C>T (p.Ser1390=)
c.4230C>T (p.Ser1410=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31258373_31258374insTCA645582450NF1c.4185_4186insT (p.Ile1396TyrfsTer22)
n.309_310insT
c.194_195insT
n.848_849insT
c.4233_4234insT (p.Ile1412TyrfsTer22)
n.175_176insT
c.4203_4204insT (p.Ile1402TyrfsTer22)
c.4140_4141insT (p.Ile1381TyrfsTer22)
c.3138_3139insT (p.Ile1047TyrfsTer22)
c.719_720insT
c.656_657insT
n.2676_2677insT
c.4242_4243insT (p.Ile1415TyrfsTer22)
c.4194_4195insT (p.Ile1399TyrfsTer22)
c.4170_4171insT (p.Ile1391TyrfsTer22)
c.4230_4231insT (p.Ile1411TyrfsTer22)
 COSMIC
17g.31258374A=CA2255573411NF1c.4186A= (p.Ile1396=)
n.310A=
c.195A=
n.849A=
c.4234A= (p.Ile1412=)
n.176A=
c.4204A= (p.Ile1402=)
c.4141A= (p.Ile1381=)
c.3139A= (p.Ile1047=)
c.720A=
c.657A=
n.2677A=
c.4243A= (p.Ile1415=)
c.4195A= (p.Ile1399=)
c.4171A= (p.Ile1391=)
c.4231A= (p.Ile1411=)
17g.31258374A>CCA398997648NF1c.4186A>C (p.Ile1396Leu)
n.310A>C
c.195A>C
n.849A>C
c.4234A>C (p.Ile1412Leu)
n.176A>C
c.4204A>C (p.Ile1402Leu)
c.4141A>C (p.Ile1381Leu)
c.3139A>C (p.Ile1047Leu)
c.720A>C
c.657A>C
n.2677A>C
c.4243A>C (p.Ile1415Leu)
c.4195A>C (p.Ile1399Leu)
c.4171A>C (p.Ile1391Leu)
c.4231A>C (p.Ile1411Leu)
 dbSNP
17g.31258374A>GCA398997650NF1c.4186A>G (p.Ile1396Val)
n.310A>G
c.195A>G
n.849A>G
c.4234A>G (p.Ile1412Val)
n.176A>G
c.4204A>G (p.Ile1402Val)
c.4141A>G (p.Ile1381Val)
c.3139A>G (p.Ile1047Val)
c.720A>G
c.657A>G
n.2677A>G
c.4243A>G (p.Ile1415Val)
c.4195A>G (p.Ile1399Val)
c.4171A>G (p.Ile1391Val)
c.4231A>G (p.Ile1411Val)
 dbSNP gnomAD v2 gnomAD v4
17g.31258374A>TCA398997653NF1c.4186A>T (p.Ile1396Phe)
n.310A>T
c.195A>T
n.849A>T
c.4234A>T (p.Ile1412Phe)
n.176A>T
c.4204A>T (p.Ile1402Phe)
c.4141A>T (p.Ile1381Phe)
c.3139A>T (p.Ile1047Phe)
c.720A>T
c.657A>T
n.2677A>T
c.4243A>T (p.Ile1415Phe)
c.4195A>T (p.Ile1399Phe)
c.4171A>T (p.Ile1391Phe)
c.4231A>T (p.Ile1411Phe)
 ClinVar dbSNP
17g.31258375T>ACA398997656NF1c.4187T>A (p.Ile1396Asn)
n.311T>A
c.196T>A
n.850T>A
c.4235T>A (p.Ile1412Asn)
n.177T>A
c.4205T>A (p.Ile1402Asn)
c.4142T>A (p.Ile1381Asn)
c.3140T>A (p.Ile1047Asn)
c.721T>A
c.658T>A
n.2678T>A
c.4244T>A (p.Ile1415Asn)
c.4196T>A (p.Ile1399Asn)
c.4172T>A (p.Ile1391Asn)
c.4232T>A (p.Ile1411Asn)
 dbSNP
17g.31258375T>CCA398997658NF1c.4187T>C (p.Ile1396Thr)
n.311T>C
c.196T>C
n.850T>C
c.4235T>C (p.Ile1412Thr)
n.177T>C
c.4205T>C (p.Ile1402Thr)
c.4142T>C (p.Ile1381Thr)
c.3140T>C (p.Ile1047Thr)
c.721T>C
c.658T>C
n.2678T>C
c.4244T>C (p.Ile1415Thr)
c.4196T>C (p.Ile1399Thr)
c.4172T>C (p.Ile1391Thr)
c.4232T>C (p.Ile1411Thr)
17g.31258375T>GCA398997662NF1c.4187T>G (p.Ile1396Ser)
n.311T>G
c.196T>G
n.850T>G
c.4235T>G (p.Ile1412Ser)
n.177T>G
c.4205T>G (p.Ile1402Ser)
c.4142T>G (p.Ile1381Ser)
c.3140T>G (p.Ile1047Ser)
c.721T>G
c.658T>G
n.2678T>G
c.4244T>G (p.Ile1415Ser)
c.4196T>G (p.Ile1399Ser)
c.4172T>G (p.Ile1391Ser)
c.4232T>G (p.Ile1411Ser)
17g.31258375dupCA499233407NF1c.4187dup (p.Gly1397ArgfsTer21)
n.311dup
c.196dup
n.850dup
c.4235dup (p.Gly1413ArgfsTer21)
n.177dup
c.4205dup (p.Gly1403ArgfsTer21)
c.4142dup (p.Gly1382ArgfsTer21)
c.3140dup (p.Gly1048ArgfsTer21)
c.721dup
c.658dup
n.2678dup
c.4244dup (p.Gly1416ArgfsTer21)
c.4196dup (p.Gly1400ArgfsTer21)
c.4172dup (p.Gly1392ArgfsTer21)
c.4232dup (p.Gly1412ArgfsTer21)
17g.31258376C>ACA499233408NF1c.4188C>A (p.Ile1396=)
n.312C>A
c.197C>A
n.851C>A
c.4236C>A (p.Ile1412=)
n.178C>A
c.4206C>A (p.Ile1402=)
c.4143C>A (p.Ile1381=)
c.3141C>A (p.Ile1047=)
c.722C>A
c.659C>A
n.2679C>A
c.4245C>A (p.Ile1415=)
c.4197C>A (p.Ile1399=)
c.4173C>A (p.Ile1391=)
c.4233C>A (p.Ile1411=)
 dbSNP
17g.31258376C=CA2255573413NF1c.4188C= (p.Ile1396=)
n.312C=
c.197C=
n.851C=
c.4236C= (p.Ile1412=)
n.178C=
c.4206C= (p.Ile1402=)
c.4143C= (p.Ile1381=)
c.3141C= (p.Ile1047=)
c.722C=
c.659C=
n.2679C=
c.4245C= (p.Ile1415=)
c.4197C= (p.Ile1399=)
c.4173C= (p.Ile1391=)
c.4233C= (p.Ile1411=)
17g.31258376C>GCA398997663NF1c.4188C>G (p.Ile1396Met)
n.312C>G
c.197C>G
n.851C>G
c.4236C>G (p.Ile1412Met)
n.178C>G
c.4206C>G (p.Ile1402Met)
c.4143C>G (p.Ile1381Met)
c.3141C>G (p.Ile1047Met)
c.722C>G
c.659C>G
n.2679C>G
c.4245C>G (p.Ile1415Met)
c.4197C>G (p.Ile1399Met)
c.4173C>G (p.Ile1391Met)
c.4233C>G (p.Ile1411Met)
 ClinVar dbSNP
17g.31258376C>TCA349978NF1c.4188C>T (p.Ile1396=)
n.312C>T
c.197C>T
n.851C>T
c.4236C>T (p.Ile1412=)
n.178C>T
c.4206C>T (p.Ile1402=)
c.4143C>T (p.Ile1381=)
c.3141C>T (p.Ile1047=)
c.722C>T
c.659C>T
n.2679C>T
c.4245C>T (p.Ile1415=)
c.4197C>T (p.Ile1399=)
c.4173C>T (p.Ile1391=)
c.4233C>T (p.Ile1411=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.31258376dupCA2499224125NF1c.4188dup (p.Gly1397ArgfsTer21)
n.312dup
c.197dup
n.851dup
c.4236dup (p.Gly1413ArgfsTer21)
n.178dup
c.4206dup (p.Gly1403ArgfsTer21)
c.4143dup (p.Gly1382ArgfsTer21)
c.3141dup (p.Gly1048ArgfsTer21)
c.722dup
c.659dup
n.2679dup
c.4245dup (p.Gly1416ArgfsTer21)
c.4197dup (p.Gly1400ArgfsTer21)
c.4173dup (p.Gly1392ArgfsTer21)
c.4233dup (p.Gly1412ArgfsTer21)
 ClinVar dbSNP
17g.31258376_31258377delinsCGCA2255573415NF1c.4188_4189delinsCG (p.Ile1396=)
n.312_313delinsCG
c.197_198delinsCG
n.851_852delinsCG
c.4236_4237delinsCG (p.Ile1412=)
n.178_179delinsCG
c.4206_4207delinsCG (p.Ile1402=)
c.4143_4144delinsCG (p.Ile1381=)
c.3141_3142delinsCG (p.Ile1047=)
c.722_723delinsCG
c.659_660delinsCG
n.2679_2680delinsCG
c.4245_4246delinsCG (p.Ile1415=)
c.4197_4198delinsCG (p.Ile1399=)
c.4173_4174delinsCG (p.Ile1391=)
c.4233_4234delinsCG (p.Ile1411=)
17g.31258378_31258379insCCCGGCA645582451NF1c.4190_4191insCCCGG (p.Ala1398ProfsTer4)
n.314_315insCCCGG
c.199_200insCCCGG
n.853_854insCCCGG
c.4238_4239insCCCGG (p.Ala1414ProfsTer4)
n.180_181insCCCGG
c.4208_4209insCCCGG (p.Ala1404ProfsTer4)
c.4145_4146insCCCGG (p.Ala1383ProfsTer4)
c.3143_3144insCCCGG (p.Ala1049ProfsTer4)
c.724_725insCCCGG
c.661_662insCCCGG
n.2681_2682insCCCGG
c.4247_4248insCCCGG (p.Ala1417ProfsTer4)
c.4199_4200insCCCGG (p.Ala1401ProfsTer4)
c.4175_4176insCCCGG (p.Ala1393ProfsTer4)
c.4235_4236insCCCGG (p.Ala1413ProfsTer4)
 COSMIC
17g.31258377G>ACA166199NF1c.4189G>A (p.Gly1397Ser)
n.313G>A
c.198G>A
n.852G>A
c.4237G>A (p.Gly1413Ser)
n.179G>A
c.4207G>A (p.Gly1403Ser)
c.4144G>A (p.Gly1382Ser)
c.3142G>A (p.Gly1048Ser)
c.723G>A
c.660G>A
n.2680G>A
c.4246G>A (p.Gly1416Ser)
c.4198G>A (p.Gly1400Ser)
c.4174G>A (p.Gly1392Ser)
c.4234G>A (p.Gly1412Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258377G>CCA398997672NF1c.4189G>C (p.Gly1397Arg)
n.313G>C
c.198G>C
n.852G>C
c.4237G>C (p.Gly1413Arg)
n.179G>C
c.4207G>C (p.Gly1403Arg)
c.4144G>C (p.Gly1382Arg)
c.3142G>C (p.Gly1048Arg)
c.723G>C
c.660G>C
n.2680G>C
c.4246G>C (p.Gly1416Arg)
c.4198G>C (p.Gly1400Arg)
c.4174G>C (p.Gly1392Arg)
c.4234G>C (p.Gly1412Arg)
 ClinVar dbSNP gnomAD v4
17g.31258377G=CA2255573418NF1c.4189G= (p.Gly1397=)
n.313G=
c.198G=
n.852G=
c.4237G= (p.Gly1413=)
n.179G=
c.4207G= (p.Gly1403=)
c.4144G= (p.Gly1382=)
c.3142G= (p.Gly1048=)
c.723G=
c.660G=
n.2680G=
c.4246G= (p.Gly1416=)
c.4198G= (p.Gly1400=)
c.4174G= (p.Gly1392=)
c.4234G= (p.Gly1412=)
17g.31258377G>TCA398997669NF1c.4189G>T (p.Gly1397Cys)
n.313G>T
c.198G>T
n.852G>T
c.4237G>T (p.Gly1413Cys)
n.179G>T
c.4207G>T (p.Gly1403Cys)
c.4144G>T (p.Gly1382Cys)
c.3142G>T (p.Gly1048Cys)
c.723G>T
c.660G>T
n.2680G>T
c.4246G>T (p.Gly1416Cys)
c.4198G>T (p.Gly1400Cys)
c.4174G>T (p.Gly1392Cys)
c.4234G>T (p.Gly1412Cys)
 ClinVar dbSNP gnomAD v4
17g.31258378delCA2255573420NF1c.4190del (p.Gly1397ValfsTer3)
n.314del
c.199del
n.853del
c.4238del (p.Gly1413ValfsTer3)
n.180del
c.4208del (p.Gly1403ValfsTer3)
c.4145del (p.Gly1382ValfsTer3)
c.3143del (p.Gly1048ValfsTer3)
c.724del
c.661del
n.2681del
c.4247del (p.Gly1416ValfsTer3)
c.4199del (p.Gly1400ValfsTer3)
c.4175del (p.Gly1392ValfsTer3)
c.4235del (p.Gly1412ValfsTer3)
 ClinVar dbSNP
17g.31258378_31258390delCA2499224126NF1c.4190_4202del (p.Gly1397ValfsTer21)
n.314_326del
c.199_211del
n.853_865del
c.4238_4250del (p.Gly1413ValfsTer21)
n.180_192del
c.4208_4220del (p.Gly1403ValfsTer21)
c.4145_4157del (p.Gly1382ValfsTer21)
c.3143_3155del (p.Gly1048ValfsTer21)
c.724_736del
c.661_673del
n.2681_2693del
c.4247_4259del (p.Gly1416ValfsTer21)
c.4199_4211del (p.Gly1400ValfsTer21)
c.4175_4187del (p.Gly1392ValfsTer21)
c.4235_4247del (p.Gly1412ValfsTer21)
 ClinVar dbSNP
17g.31258378G>ACA398997674NF1c.4190G>A (p.Gly1397Asp)
n.314G>A
c.199G>A
n.853G>A
c.4238G>A (p.Gly1413Asp)
n.180G>A
c.4208G>A (p.Gly1403Asp)
c.4145G>A (p.Gly1382Asp)
c.3143G>A (p.Gly1048Asp)
c.724G>A
c.661G>A
n.2681G>A
c.4247G>A (p.Gly1416Asp)
c.4199G>A (p.Gly1400Asp)
c.4175G>A (p.Gly1392Asp)
c.4235G>A (p.Gly1412Asp)
 ClinVar dbSNP
17g.31258378G>CCA398997675NF1c.4190G>C (p.Gly1397Ala)
n.314G>C
c.199G>C
n.853G>C
c.4238G>C (p.Gly1413Ala)
n.180G>C
c.4208G>C (p.Gly1403Ala)
c.4145G>C (p.Gly1382Ala)
c.3143G>C (p.Gly1048Ala)
c.724G>C
c.661G>C
n.2681G>C
c.4247G>C (p.Gly1416Ala)
c.4199G>C (p.Gly1400Ala)
c.4175G>C (p.Gly1392Ala)
c.4235G>C (p.Gly1412Ala)
 ClinVar dbSNP
17g.31258378G>TCA398997676NF1c.4190G>T (p.Gly1397Val)
n.314G>T
c.199G>T
n.853G>T
c.4238G>T (p.Gly1413Val)
n.180G>T
c.4208G>T (p.Gly1403Val)
c.4145G>T (p.Gly1382Val)
c.3143G>T (p.Gly1048Val)
c.724G>T
c.661G>T
n.2681G>T
c.4247G>T (p.Gly1416Val)
c.4199G>T (p.Gly1400Val)
c.4175G>T (p.Gly1392Val)
c.4235G>T (p.Gly1412Val)
17g.31258379T>ACA499233409NF1c.4191T>A (p.Gly1397=)
n.315T>A
c.200T>A
n.854T>A
c.4239T>A (p.Gly1413=)
n.181T>A
c.4209T>A (p.Gly1403=)
c.4146T>A (p.Gly1382=)
c.3144T>A (p.Gly1048=)
c.725T>A
c.662T>A
n.2682T>A
c.4248T>A (p.Gly1416=)
c.4200T>A (p.Gly1400=)
c.4176T>A (p.Gly1392=)
c.4236T>A (p.Gly1412=)
 dbSNP
17g.31258379T>CCA8486365NF1c.4191T>C (p.Gly1397=)
n.315T>C
c.200T>C
n.854T>C
c.4239T>C (p.Gly1413=)
n.181T>C
c.4209T>C (p.Gly1403=)
c.4146T>C (p.Gly1382=)
c.3144T>C (p.Gly1048=)
c.725T>C
c.662T>C
n.2682T>C
c.4248T>C (p.Gly1416=)
c.4200T>C (p.Gly1400=)
c.4176T>C (p.Gly1392=)
c.4236T>C (p.Gly1412=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31258379T>GCA499233411NF1c.4191T>G (p.Gly1397=)
n.315T>G
c.200T>G
n.854T>G
c.4239T>G (p.Gly1413=)
n.181T>G
c.4209T>G (p.Gly1403=)
c.4146T>G (p.Gly1382=)
c.3144T>G (p.Gly1048=)
c.725T>G
c.662T>G
n.2682T>G
c.4248T>G (p.Gly1416=)
c.4200T>G (p.Gly1400=)
c.4176T>G (p.Gly1392=)
c.4236T>G (p.Gly1412=)
 dbSNP
17g.31258379T=CA2255573423NF1c.4191T= (p.Gly1397=)
n.315T=
c.200T=
n.854T=
c.4239T= (p.Gly1413=)
n.181T=
c.4209T= (p.Gly1403=)
c.4146T= (p.Gly1382=)
c.3144T= (p.Gly1048=)
c.725T=
c.662T=
n.2682T=
c.4248T= (p.Gly1416=)
c.4200T= (p.Gly1400=)
c.4176T= (p.Gly1392=)
c.4236T= (p.Gly1412=)
17g.31258380G>ACA398997681NF1c.4192G>A (p.Ala1398Thr)
n.316G>A
c.201G>A
n.855G>A
c.4240G>A (p.Ala1414Thr)
n.182G>A
c.4210G>A (p.Ala1404Thr)
c.4147G>A (p.Ala1383Thr)
c.3145G>A (p.Ala1049Thr)
c.726G>A
c.663G>A
n.2683G>A
c.4249G>A (p.Ala1417Thr)
c.4201G>A (p.Ala1401Thr)
c.4177G>A (p.Ala1393Thr)
c.4237G>A (p.Ala1413Thr)
 dbSNP
17g.31258380G>CCA398997682NF1c.4192G>C (p.Ala1398Pro)
n.316G>C
c.201G>C
n.855G>C
c.4240G>C (p.Ala1414Pro)
n.182G>C
c.4210G>C (p.Ala1404Pro)
c.4147G>C (p.Ala1383Pro)
c.3145G>C (p.Ala1049Pro)
c.726G>C
c.663G>C
n.2683G>C
c.4249G>C (p.Ala1417Pro)
c.4201G>C (p.Ala1401Pro)
c.4177G>C (p.Ala1393Pro)
c.4237G>C (p.Ala1413Pro)
 dbSNP
17g.31258380G>TCA398997686NF1c.4192G>T (p.Ala1398Ser)
n.316G>T
c.201G>T
n.855G>T
c.4240G>T (p.Ala1414Ser)
n.182G>T
c.4210G>T (p.Ala1404Ser)
c.4147G>T (p.Ala1383Ser)
c.3145G>T (p.Ala1049Ser)
c.726G>T
c.663G>T
n.2683G>T
c.4249G>T (p.Ala1417Ser)
c.4201G>T (p.Ala1401Ser)
c.4177G>T (p.Ala1393Ser)
c.4237G>T (p.Ala1413Ser)
 ClinVar dbSNP
17g.31258380dupCA2580092853NF1c.4192dup (p.Ala1398GlyfsTer20)
n.316dup
c.201dup
n.855dup
c.4240dup (p.Ala1414GlyfsTer20)
n.182dup
c.4210dup (p.Ala1404GlyfsTer20)
c.4147dup (p.Ala1383GlyfsTer20)
c.3145dup (p.Ala1049GlyfsTer20)
c.726dup
c.663dup
n.2683dup
c.4249dup (p.Ala1417GlyfsTer20)
c.4201dup (p.Ala1401GlyfsTer20)
c.4177dup (p.Ala1393GlyfsTer20)
c.4237dup (p.Ala1413GlyfsTer20)
 ClinVar
17g.31258381_31258383dupCA916080597NF1c.4193_4195dup (p.Ala1398_Val1399insAla)
n.317_319dup
c.202_204dup
n.856_858dup
c.4241_4243dup (p.Ala1414_Val1415insAla)
n.183_185dup
c.4211_4213dup (p.Ala1404_Val1405insAla)
c.4148_4150dup (p.Ala1383_Val1384insAla)
c.3146_3148dup (p.Ala1049_Val1050insAla)
c.727_729dup
c.664_666dup
n.2684_2686dup
c.4250_4252dup (p.Ala1417_Val1418insAla)
c.4202_4204dup (p.Ala1401_Val1402insAla)
c.4178_4180dup (p.Ala1393_Val1394insAla)
c.4238_4240dup (p.Ala1413_Val1414insAla)
 ClinVar dbSNP
17g.31258381C>ACA398997694NF1c.4193C>A (p.Ala1398Glu)
n.317C>A
c.202C>A
n.856C>A
c.4241C>A (p.Ala1414Glu)
n.183C>A
c.4211C>A (p.Ala1404Glu)
c.4148C>A (p.Ala1383Glu)
c.3146C>A (p.Ala1049Glu)
c.727C>A
c.664C>A
n.2684C>A
c.4250C>A (p.Ala1417Glu)
c.4202C>A (p.Ala1401Glu)
c.4178C>A (p.Ala1393Glu)
c.4238C>A (p.Ala1413Glu)
17g.31258381C=CA2255573426NF1c.4193C= (p.Ala1398=)
n.317C=
c.202C=
n.856C=
c.4241C= (p.Ala1414=)
n.183C=
c.4211C= (p.Ala1404=)
c.4148C= (p.Ala1383=)
c.3146C= (p.Ala1049=)
c.727C=
c.664C=
n.2684C=
c.4250C= (p.Ala1417=)
c.4202C= (p.Ala1401=)
c.4178C= (p.Ala1393=)
c.4238C= (p.Ala1413=)
17g.31258381C>GCA398997696NF1c.4193C>G (p.Ala1398Gly)
n.317C>G
c.202C>G
n.856C>G
c.4241C>G (p.Ala1414Gly)
n.183C>G
c.4211C>G (p.Ala1404Gly)
c.4148C>G (p.Ala1383Gly)
c.3146C>G (p.Ala1049Gly)
c.727C>G
c.664C>G
n.2684C>G
c.4250C>G (p.Ala1417Gly)
c.4202C>G (p.Ala1401Gly)
c.4178C>G (p.Ala1393Gly)
c.4238C>G (p.Ala1413Gly)
 dbSNP
17g.31258381C>TCA16615210NF1c.4193C>T (p.Ala1398Val)
n.317C>T
c.202C>T
n.856C>T
c.4241C>T (p.Ala1414Val)
n.183C>T
c.4211C>T (p.Ala1404Val)
c.4148C>T (p.Ala1383Val)
c.3146C>T (p.Ala1049Val)
c.727C>T
c.664C>T
n.2684C>T
c.4250C>T (p.Ala1417Val)
c.4202C>T (p.Ala1401Val)
c.4178C>T (p.Ala1393Val)
c.4238C>T (p.Ala1413Val)
 ClinVar dbSNP
17g.31258382A=CA2255573428NF1c.4194A= (p.Ala1398=)
n.318A=
c.203A=
n.857A=
c.4242A= (p.Ala1414=)
n.184A=
c.4212A= (p.Ala1404=)
c.4149A= (p.Ala1383=)
c.3147A= (p.Ala1049=)
c.728A=
c.665A=
n.2685A=
c.4251A= (p.Ala1417=)
c.4203A= (p.Ala1401=)
c.4179A= (p.Ala1393=)
c.4239A= (p.Ala1413=)
17g.31258382A>CCA499233413NF1c.4194A>C (p.Ala1398=)
n.318A>C
c.203A>C
n.857A>C
c.4242A>C (p.Ala1414=)
n.184A>C
c.4212A>C (p.Ala1404=)
c.4149A>C (p.Ala1383=)
c.3147A>C (p.Ala1049=)
c.728A>C
c.665A>C
n.2685A>C
c.4251A>C (p.Ala1417=)
c.4203A>C (p.Ala1401=)
c.4179A>C (p.Ala1393=)
c.4239A>C (p.Ala1413=)
17g.31258382A>GCA8486366NF1c.4194A>G (p.Ala1398=)
n.318A>G
c.203A>G
n.857A>G
c.4242A>G (p.Ala1414=)
n.184A>G
c.4212A>G (p.Ala1404=)
c.4149A>G (p.Ala1383=)
c.3147A>G (p.Ala1049=)
c.728A>G
c.665A>G
n.2685A>G
c.4251A>G (p.Ala1417=)
c.4203A>G (p.Ala1401=)
c.4179A>G (p.Ala1393=)
c.4239A>G (p.Ala1413=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258382A>TCA499233414NF1c.4194A>T (p.Ala1398=)
n.318A>T
c.203A>T
n.857A>T
c.4242A>T (p.Ala1414=)
n.184A>T
c.4212A>T (p.Ala1404=)
c.4149A>T (p.Ala1383=)
c.3147A>T (p.Ala1049=)
c.728A>T
c.665A>T
n.2685A>T
c.4251A>T (p.Ala1417=)
c.4203A>T (p.Ala1401=)
c.4179A>T (p.Ala1393=)
c.4239A>T (p.Ala1413=)
 dbSNP
17g.31258383G>ACA398997711NF1c.1G>A (p.Val1Ile)
c.4195G>A (p.Val1399Ile)
n.319G>A
c.204G>A
n.858G>A
c.4243G>A (p.Val1415Ile)
n.185G>A
c.4213G>A (p.Val1405Ile)
c.4150G>A (p.Val1384Ile)
c.3148G>A (p.Val1050Ile)
c.729G>A
c.666G>A
n.2686G>A
c.4252G>A (p.Val1418Ile)
c.4204G>A (p.Val1402Ile)
c.4180G>A (p.Val1394Ile)
c.4240G>A (p.Val1414Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31258383G>CCA398997702NF1c.1G>C (p.Val1Leu)
c.4195G>C (p.Val1399Leu)
n.319G>C
c.204G>C
n.858G>C
c.4243G>C (p.Val1415Leu)
n.185G>C
c.4213G>C (p.Val1405Leu)
c.4150G>C (p.Val1384Leu)
c.3148G>C (p.Val1050Leu)
c.729G>C
c.666G>C
n.2686G>C
c.4252G>C (p.Val1418Leu)
c.4204G>C (p.Val1402Leu)
c.4180G>C (p.Val1394Leu)
c.4240G>C (p.Val1414Leu)
 dbSNP
17g.31258383G=CA2255573430NF1c.1G= (p.Val1=)
c.4195G= (p.Val1399=)
n.319G=
c.204G=
n.858G=
c.4243G= (p.Val1415=)
n.185G=
c.4213G= (p.Val1405=)
c.4150G= (p.Val1384=)
c.3148G= (p.Val1050=)
c.729G=
c.666G=
n.2686G=
c.4252G= (p.Val1418=)
c.4204G= (p.Val1402=)
c.4180G= (p.Val1394=)
c.4240G= (p.Val1414=)
17g.31258383G>TCA398997704NF1c.1G>T (p.Val1Leu)
c.4195G>T (p.Val1399Leu)
n.319G>T
c.204G>T
n.858G>T
c.4243G>T (p.Val1415Leu)
n.185G>T
c.4213G>T (p.Val1405Leu)
c.4150G>T (p.Val1384Leu)
c.3148G>T (p.Val1050Leu)
c.729G>T
c.666G>T
n.2686G>T
c.4252G>T (p.Val1418Leu)
c.4204G>T (p.Val1402Leu)
c.4180G>T (p.Val1394Leu)
c.4240G>T (p.Val1414Leu)
17g.31258383_31258412dupCA2580092858NF1c.1_30dup (p.Ile10_Asn11insValGlySerAlaMetPheLeuArgPheIle)
c.4195_4224dup (p.Ile1408_Asn1409insValGlySerAlaMetPheLeuArgPheIle)
n.319_348dup
c.204_233dup
n.858_887dup
c.4243_4272dup (p.Ile1424_Asn1425insValGlySerAlaMetPheLeuArgPheIle)
n.185_214dup
c.4213_4242dup (p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPheIle)
c.4150_4179dup (p.Ile1393_Asn1394insValGlySerAlaMetPheLeuArgPheIle)
c.3148_3177dup (p.Ile1059_Asn1060insValGlySerAlaMetPheLeuArgPheIle)
c.729_758dup
c.666_695dup
n.2686_2715dup
c.4252_4281dup (p.Ile1427_Asn1428insValGlySerAlaMetPheLeuArgPheIle)
c.4204_4233dup (p.Ile1411_Asn1412insValGlySerAlaMetPheLeuArgPheIle)
c.4180_4209dup (p.Ile1403_Asn1404insValGlySerAlaMetPheLeuArgPheIle)
c.4240_4269dup (p.Ile1423_Asn1424insValGlySerAlaMetPheLeuArgPheIle)
 ClinVar
17g.31258384T>ACA398997713NF1c.2T>A (p.Val1Glu)
c.4196T>A (p.Val1399Glu)
n.320T>A
c.205T>A
n.859T>A
c.4244T>A (p.Val1415Glu)
n.186T>A
c.4214T>A (p.Val1405Glu)
c.4151T>A (p.Val1384Glu)
c.3149T>A (p.Val1050Glu)
c.730T>A
c.667T>A
n.2687T>A
c.4253T>A (p.Val1418Glu)
c.4205T>A (p.Val1402Glu)
c.4181T>A (p.Val1394Glu)
c.4241T>A (p.Val1414Glu)
 dbSNP
17g.31258384T>CCA398997716NF1c.2T>C (p.Val1Ala)
c.4196T>C (p.Val1399Ala)
n.320T>C
c.205T>C
n.859T>C
c.4244T>C (p.Val1415Ala)
n.186T>C
c.4214T>C (p.Val1405Ala)
c.4151T>C (p.Val1384Ala)
c.3149T>C (p.Val1050Ala)
c.730T>C
c.667T>C
n.2687T>C
c.4253T>C (p.Val1418Ala)
c.4205T>C (p.Val1402Ala)
c.4181T>C (p.Val1394Ala)
c.4241T>C (p.Val1414Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31258384T>GCA398997718NF1c.2T>G (p.Val1Gly)
c.4196T>G (p.Val1399Gly)
n.320T>G
c.205T>G
n.859T>G
c.4244T>G (p.Val1415Gly)
n.186T>G
c.4214T>G (p.Val1405Gly)
c.4151T>G (p.Val1384Gly)
c.3149T>G (p.Val1050Gly)
c.730T>G
c.667T>G
n.2687T>G
c.4253T>G (p.Val1418Gly)
c.4205T>G (p.Val1402Gly)
c.4181T>G (p.Val1394Gly)
c.4241T>G (p.Val1414Gly)
17g.31258384T=CA2255573432NF1c.2T= (p.Val1=)
c.4196T= (p.Val1399=)
n.320T=
c.205T=
n.859T=
c.4244T= (p.Val1415=)
n.186T=
c.4214T= (p.Val1405=)
c.4151T= (p.Val1384=)
c.3149T= (p.Val1050=)
c.730T=
c.667T=
n.2687T=
c.4253T= (p.Val1418=)
c.4205T= (p.Val1402=)
c.4181T= (p.Val1394=)
c.4241T= (p.Val1414=)
17g.31258385delCA2573153591NF1c.3del (p.Gly2GlufsTer22)
c.4197del (p.Gly1400GlufsTer22)
n.321del
c.206del
n.860del
c.4245del (p.Gly1416GlufsTer22)
n.187del
c.4215del (p.Gly1406GlufsTer22)
c.4152del (p.Gly1385GlufsTer22)
c.3150del (p.Gly1051GlufsTer22)
c.731del
c.668del
n.2688del
c.4254del (p.Gly1419GlufsTer22)
c.4206del (p.Gly1403GlufsTer22)
c.4182del (p.Gly1395GlufsTer22)
c.4242del (p.Gly1415GlufsTer22)
 ClinVar dbSNP
17g.31258385A>CCA499233420NF1c.3A>C (p.Val1=)
c.4197A>C (p.Val1399=)
n.321A>C
c.206A>C
n.860A>C
c.4245A>C (p.Val1415=)
n.187A>C
c.4215A>C (p.Val1405=)
c.4152A>C (p.Val1384=)
c.3150A>C (p.Val1050=)
c.731A>C
c.668A>C
n.2688A>C
c.4254A>C (p.Val1418=)
c.4206A>C (p.Val1402=)
c.4182A>C (p.Val1394=)
c.4242A>C (p.Val1414=)
17g.31258385A>GCA499233419NF1c.3A>G (p.Val1=)
c.4197A>G (p.Val1399=)
n.321A>G
c.206A>G
n.860A>G
c.4245A>G (p.Val1415=)
n.187A>G
c.4215A>G (p.Val1405=)
c.4152A>G (p.Val1384=)
c.3150A>G (p.Val1050=)
c.731A>G
c.668A>G
n.2688A>G
c.4254A>G (p.Val1418=)
c.4206A>G (p.Val1402=)
c.4182A>G (p.Val1394=)
c.4242A>G (p.Val1414=)
 dbSNP
17g.31258385A>TCA499233417NF1c.3A>T (p.Val1=)
c.4197A>T (p.Val1399=)
n.321A>T
c.206A>T
n.860A>T
c.4245A>T (p.Val1415=)
n.187A>T
c.4215A>T (p.Val1405=)
c.4152A>T (p.Val1384=)
c.3150A>T (p.Val1050=)
c.731A>T
c.668A>T
n.2688A>T
c.4254A>T (p.Val1418=)
c.4206A>T (p.Val1402=)
c.4182A>T (p.Val1394=)
c.4242A>T (p.Val1414=)
17g.31258386G>ACA398997727NF1c.4G>A (p.Gly2Arg)
c.4198G>A (p.Gly1400Arg)
n.322G>A
c.207G>A
n.861G>A
c.4246G>A (p.Gly1416Arg)
n.188G>A
c.4216G>A (p.Gly1406Arg)
c.4153G>A (p.Gly1385Arg)
c.3151G>A (p.Gly1051Arg)
c.732G>A
c.669G>A
n.2689G>A
c.4255G>A (p.Gly1419Arg)
c.4207G>A (p.Gly1403Arg)
c.4183G>A (p.Gly1395Arg)
c.4243G>A (p.Gly1415Arg)
 dbSNP
17g.31258386G>CCA398997724NF1c.4G>C (p.Gly2Arg)
c.4198G>C (p.Gly1400Arg)
n.322G>C
c.207G>C
n.861G>C
c.4246G>C (p.Gly1416Arg)
n.188G>C
c.4216G>C (p.Gly1406Arg)
c.4153G>C (p.Gly1385Arg)
c.3151G>C (p.Gly1051Arg)
c.732G>C
c.669G>C
n.2689G>C
c.4255G>C (p.Gly1419Arg)
c.4207G>C (p.Gly1403Arg)
c.4183G>C (p.Gly1395Arg)
c.4243G>C (p.Gly1415Arg)
 dbSNP
17g.31258386G=CA2255573433NF1c.4G= (p.Gly2=)
c.4198G= (p.Gly1400=)
n.322G=
c.207G=
n.861G=
c.4246G= (p.Gly1416=)
n.188G=
c.4216G= (p.Gly1406=)
c.4153G= (p.Gly1385=)
c.3151G= (p.Gly1051=)
c.732G=
c.669G=
n.2689G=
c.4255G= (p.Gly1419=)
c.4207G= (p.Gly1403=)
c.4183G= (p.Gly1395=)
c.4243G= (p.Gly1415=)
17g.31258386G>TCA398997721NF1c.4G>T (p.Gly2Ter)
c.4198G>T (p.Gly1400Ter)
n.322G>T
c.207G>T
n.861G>T
c.4246G>T (p.Gly1416Ter)
n.188G>T
c.4216G>T (p.Gly1406Ter)
c.4153G>T (p.Gly1385Ter)
c.3151G>T (p.Gly1051Ter)
c.732G>T
c.669G>T
n.2689G>T
c.4255G>T (p.Gly1419Ter)
c.4207G>T (p.Gly1403Ter)
c.4183G>T (p.Gly1395Ter)
c.4243G>T (p.Gly1415Ter)
 ClinVar dbSNP
17g.31258387delCA2573153592NF1c.5del (p.Gly2GlufsTer22)
c.4199del (p.Gly1400GlufsTer22)
n.323del
c.208del
n.862del
c.4247del (p.Gly1416GlufsTer22)
n.189del
c.4217del (p.Gly1406GlufsTer22)
c.4154del (p.Gly1385GlufsTer22)
c.3152del (p.Gly1051GlufsTer22)
c.733del
c.670del
n.2690del
c.4256del (p.Gly1419GlufsTer22)
c.4208del (p.Gly1403GlufsTer22)
c.4184del (p.Gly1395GlufsTer22)
c.4244del (p.Gly1415GlufsTer22)
 ClinVar dbSNP gnomAD v4
17g.31258387G>ACA398997731NF1c.5G>A (p.Gly2Glu)
c.4199G>A (p.Gly1400Glu)
n.323G>A
c.208G>A
n.862G>A
c.4247G>A (p.Gly1416Glu)
n.189G>A
c.4217G>A (p.Gly1406Glu)
c.4154G>A (p.Gly1385Glu)
c.3152G>A (p.Gly1051Glu)
c.733G>A
c.670G>A
n.2690G>A
c.4256G>A (p.Gly1419Glu)
c.4208G>A (p.Gly1403Glu)
c.4184G>A (p.Gly1395Glu)
c.4244G>A (p.Gly1415Glu)
 dbSNP
17g.31258387G>CCA398997735NF1c.5G>C (p.Gly2Ala)
c.4199G>C (p.Gly1400Ala)
n.323G>C
c.208G>C
n.862G>C
c.4247G>C (p.Gly1416Ala)
n.189G>C
c.4217G>C (p.Gly1406Ala)
c.4154G>C (p.Gly1385Ala)
c.3152G>C (p.Gly1051Ala)
c.733G>C
c.670G>C
n.2690G>C
c.4256G>C (p.Gly1419Ala)
c.4208G>C (p.Gly1403Ala)
c.4184G>C (p.Gly1395Ala)
c.4244G>C (p.Gly1415Ala)
 dbSNP
17g.31258387G=CA2255573435NF1c.5G= (p.Gly2=)
c.4199G= (p.Gly1400=)
n.323G=
c.208G=
n.862G=
c.4247G= (p.Gly1416=)
n.189G=
c.4217G= (p.Gly1406=)
c.4154G= (p.Gly1385=)
c.3152G= (p.Gly1051=)
c.733G=
c.670G=
n.2690G=
c.4256G= (p.Gly1419=)
c.4208G= (p.Gly1403=)
c.4184G= (p.Gly1395=)
c.4244G= (p.Gly1415=)
17g.31258387G>TCA398997738NF1c.5G>T (p.Gly2Val)
c.4199G>T (p.Gly1400Val)
n.323G>T
c.208G>T
n.862G>T
c.4247G>T (p.Gly1416Val)
n.189G>T
c.4217G>T (p.Gly1406Val)
c.4154G>T (p.Gly1385Val)
c.3152G>T (p.Gly1051Val)
c.733G>T
c.670G>T
n.2690G>T
c.4256G>T (p.Gly1419Val)
c.4208G>T (p.Gly1403Val)
c.4184G>T (p.Gly1395Val)
c.4244G>T (p.Gly1415Val)
 ClinVar dbSNP
17g.31258388A>CCA499233422NF1c.6A>C (p.Gly2=)
c.4200A>C (p.Gly1400=)
n.324A>C
c.209A>C
n.863A>C
c.4248A>C (p.Gly1416=)
n.190A>C
c.4218A>C (p.Gly1406=)
c.4155A>C (p.Gly1385=)
c.3153A>C (p.Gly1051=)
c.734A>C
c.671A>C
n.2691A>C
c.4257A>C (p.Gly1419=)
c.4209A>C (p.Gly1403=)
c.4185A>C (p.Gly1395=)
c.4245A>C (p.Gly1415=)
17g.31258388A>GCA499233423NF1c.6A>G (p.Gly2=)
c.4200A>G (p.Gly1400=)
n.324A>G
c.209A>G
n.863A>G
c.4248A>G (p.Gly1416=)
n.190A>G
c.4218A>G (p.Gly1406=)
c.4155A>G (p.Gly1385=)
c.3153A>G (p.Gly1051=)
c.734A>G
c.671A>G
n.2691A>G
c.4257A>G (p.Gly1419=)
c.4209A>G (p.Gly1403=)
c.4185A>G (p.Gly1395=)
c.4245A>G (p.Gly1415=)
17g.31258388A>TCA499233424NF1c.6A>T (p.Gly2=)
c.4200A>T (p.Gly1400=)
n.324A>T
c.209A>T
n.863A>T
c.4248A>T (p.Gly1416=)
n.190A>T
c.4218A>T (p.Gly1406=)
c.4155A>T (p.Gly1385=)
c.3153A>T (p.Gly1051=)
c.734A>T
c.671A>T
n.2691A>T
c.4257A>T (p.Gly1419=)
c.4209A>T (p.Gly1403=)
c.4185A>T (p.Gly1395=)
c.4245A>T (p.Gly1415=)
17g.31258389delCA2695225652NF1c.7del (p.Ser3ValfsTer21)
c.4201del (p.Ser1401ValfsTer21)
n.325del
c.210del
n.864del
c.4249del (p.Ser1417ValfsTer21)
n.191del
c.4219del (p.Ser1407ValfsTer21)
c.4156del (p.Ser1386ValfsTer21)
c.3154del (p.Ser1052ValfsTer21)
c.735del
c.672del
n.2692del
c.4258del (p.Ser1420ValfsTer21)
c.4210del (p.Ser1404ValfsTer21)
c.4186del (p.Ser1396ValfsTer21)
c.4246del (p.Ser1416ValfsTer21)
17g.31258389A=CA2255573437NF1c.7A= (p.Ser3=)
c.4201A= (p.Ser1401=)
n.325A=
c.210A=
n.864A=
c.4249A= (p.Ser1417=)
n.191A=
c.4219A= (p.Ser1407=)
c.4156A= (p.Ser1386=)
c.3154A= (p.Ser1052=)
c.735A=
c.672A=
n.2692A=
c.4258A= (p.Ser1420=)
c.4210A= (p.Ser1404=)
c.4186A= (p.Ser1396=)
c.4246A= (p.Ser1416=)
17g.31258389A>CCA398997742NF1c.7A>C (p.Ser3Arg)
c.4201A>C (p.Ser1401Arg)
n.325A>C
c.210A>C
n.864A>C
c.4249A>C (p.Ser1417Arg)
n.191A>C
c.4219A>C (p.Ser1407Arg)
c.4156A>C (p.Ser1386Arg)
c.3154A>C (p.Ser1052Arg)
c.735A>C
c.672A>C
n.2692A>C
c.4258A>C (p.Ser1420Arg)
c.4210A>C (p.Ser1404Arg)
c.4186A>C (p.Ser1396Arg)
c.4246A>C (p.Ser1416Arg)
 ClinVar
17g.31258389A>GCA165427NF1c.7A>G (p.Ser3Gly)
c.4201A>G (p.Ser1401Gly)
n.325A>G
c.210A>G
n.864A>G
c.4249A>G (p.Ser1417Gly)
n.191A>G
c.4219A>G (p.Ser1407Gly)
c.4156A>G (p.Ser1386Gly)
c.3154A>G (p.Ser1052Gly)
c.735A>G
c.672A>G
n.2692A>G
c.4258A>G (p.Ser1420Gly)
c.4210A>G (p.Ser1404Gly)
c.4186A>G (p.Ser1396Gly)
c.4246A>G (p.Ser1416Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31258389A>TCA398997748NF1c.7A>T (p.Ser3Cys)
c.4201A>T (p.Ser1401Cys)
n.325A>T
c.210A>T
n.864A>T
c.4249A>T (p.Ser1417Cys)
n.191A>T
c.4219A>T (p.Ser1407Cys)
c.4156A>T (p.Ser1386Cys)
c.3154A>T (p.Ser1052Cys)
c.735A>T
c.672A>T
n.2692A>T
c.4258A>T (p.Ser1420Cys)
c.4210A>T (p.Ser1404Cys)
c.4186A>T (p.Ser1396Cys)
c.4246A>T (p.Ser1416Cys)
 dbSNP
17g.31258390delCA2697559739NF1c.8del (p.Ser3MetfsTer21)
c.4202del (p.Ser1401MetfsTer21)
n.326del
c.211del
n.865del
c.4250del (p.Ser1417MetfsTer21)
n.192del
c.4220del (p.Ser1407MetfsTer21)
c.4157del (p.Ser1386MetfsTer21)
c.3155del (p.Ser1052MetfsTer21)
c.736del
c.673del
n.2693del
c.4259del (p.Ser1420MetfsTer21)
c.4211del (p.Ser1404MetfsTer21)
c.4187del (p.Ser1396MetfsTer21)
c.4247del (p.Ser1416MetfsTer21)
 ClinVar
17g.31258390G>ACA398997750NF1c.8G>A (p.Ser3Asn)
c.4202G>A (p.Ser1401Asn)
n.326G>A
c.211G>A
n.865G>A
c.4250G>A (p.Ser1417Asn)
n.192G>A
c.4220G>A (p.Ser1407Asn)
c.4157G>A (p.Ser1386Asn)
c.3155G>A (p.Ser1052Asn)
c.736G>A
c.673G>A
n.2693G>A
c.4259G>A (p.Ser1420Asn)
c.4211G>A (p.Ser1404Asn)
c.4187G>A (p.Ser1396Asn)
c.4247G>A (p.Ser1416Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31258390G>CCA398997756NF1c.8G>C (p.Ser3Thr)
c.4202G>C (p.Ser1401Thr)
n.326G>C
c.211G>C
n.865G>C
c.4250G>C (p.Ser1417Thr)
n.192G>C
c.4220G>C (p.Ser1407Thr)
c.4157G>C (p.Ser1386Thr)
c.3155G>C (p.Ser1052Thr)
c.736G>C
c.673G>C
n.2693G>C
c.4259G>C (p.Ser1420Thr)
c.4211G>C (p.Ser1404Thr)
c.4187G>C (p.Ser1396Thr)
c.4247G>C (p.Ser1416Thr)
 dbSNP
17g.31258390G=CA2255573439NF1c.8G= (p.Ser3=)
c.4202G= (p.Ser1401=)
n.326G=
c.211G=
n.865G=
c.4250G= (p.Ser1417=)
n.192G=
c.4220G= (p.Ser1407=)
c.4157G= (p.Ser1386=)
c.3155G= (p.Ser1052=)
c.736G=
c.673G=
n.2693G=
c.4259G= (p.Ser1420=)
c.4211G= (p.Ser1404=)
c.4187G= (p.Ser1396=)
c.4247G= (p.Ser1416=)
17g.31258390G>TCA398997753NF1c.8G>T (p.Ser3Ile)
c.4202G>T (p.Ser1401Ile)
n.326G>T
c.211G>T
n.865G>T
c.4250G>T (p.Ser1417Ile)
n.192G>T
c.4220G>T (p.Ser1407Ile)
c.4157G>T (p.Ser1386Ile)
c.3155G>T (p.Ser1052Ile)
c.736G>T
c.673G>T
n.2693G>T
c.4259G>T (p.Ser1420Ile)
c.4211G>T (p.Ser1404Ile)
c.4187G>T (p.Ser1396Ile)
c.4247G>T (p.Ser1416Ile)
17g.31258391T>ACA398997762NF1c.9T>A (p.Ser3Arg)
c.4203T>A (p.Ser1401Arg)
n.327T>A
c.212T>A
n.866T>A
c.4251T>A (p.Ser1417Arg)
n.193T>A
c.4221T>A (p.Ser1407Arg)
c.4158T>A (p.Ser1386Arg)
c.3156T>A (p.Ser1052Arg)
c.737T>A
c.674T>A
n.2694T>A
c.4260T>A (p.Ser1420Arg)
c.4212T>A (p.Ser1404Arg)
c.4188T>A (p.Ser1396Arg)
c.4248T>A (p.Ser1416Arg)
 ClinVar dbSNP
17g.31258391T>CCA499233426NF1c.9T>C (p.Ser3=)
c.4203T>C (p.Ser1401=)
n.327T>C
c.212T>C
n.866T>C
c.4251T>C (p.Ser1417=)
n.193T>C
c.4221T>C (p.Ser1407=)
c.4158T>C (p.Ser1386=)
c.3156T>C (p.Ser1052=)
c.737T>C
c.674T>C
n.2694T>C
c.4260T>C (p.Ser1420=)
c.4212T>C (p.Ser1404=)
c.4188T>C (p.Ser1396=)
c.4248T>C (p.Ser1416=)
17g.31258391T>GCA398997764NF1c.9T>G (p.Ser3Arg)
c.4203T>G (p.Ser1401Arg)
n.327T>G
c.212T>G
n.866T>G
c.4251T>G (p.Ser1417Arg)
n.193T>G
c.4221T>G (p.Ser1407Arg)
c.4158T>G (p.Ser1386Arg)
c.3156T>G (p.Ser1052Arg)
c.737T>G
c.674T>G
n.2694T>G
c.4260T>G (p.Ser1420Arg)
c.4212T>G (p.Ser1404Arg)
c.4188T>G (p.Ser1396Arg)
c.4248T>G (p.Ser1416Arg)
 ClinVar dbSNP
17g.31258391T=CA2255573440NF1c.9T= (p.Ser3=)
c.4203T= (p.Ser1401=)
n.327T=
c.212T=
n.866T=
c.4251T= (p.Ser1417=)
n.193T=
c.4221T= (p.Ser1407=)
c.4158T= (p.Ser1386=)
c.3156T= (p.Ser1052=)
c.737T=
c.674T=
n.2694T=
c.4260T= (p.Ser1420=)
c.4212T= (p.Ser1404=)
c.4188T= (p.Ser1396=)
c.4248T= (p.Ser1416=)
17g.31258392G>ACA398997768NF1c.10G>A (p.Ala4Thr)
c.4204G>A (p.Ala1402Thr)
n.328G>A
c.213G>A
n.867G>A
c.4252G>A (p.Ala1418Thr)
n.194G>A
c.4222G>A (p.Ala1408Thr)
c.4159G>A (p.Ala1387Thr)
c.3157G>A (p.Ala1053Thr)
c.738G>A
c.675G>A
n.2695G>A
c.4261G>A (p.Ala1421Thr)
c.4213G>A (p.Ala1405Thr)
c.4189G>A (p.Ala1397Thr)
c.4249G>A (p.Ala1417Thr)
 gnomAD v4
17g.31258392G>CCA398997769NF1c.10G>C (p.Ala4Pro)
c.4204G>C (p.Ala1402Pro)
n.328G>C
c.213G>C
n.867G>C
c.4252G>C (p.Ala1418Pro)
n.194G>C
c.4222G>C (p.Ala1408Pro)
c.4159G>C (p.Ala1387Pro)
c.3157G>C (p.Ala1053Pro)
c.738G>C
c.675G>C
n.2695G>C
c.4261G>C (p.Ala1421Pro)
c.4213G>C (p.Ala1405Pro)
c.4189G>C (p.Ala1397Pro)
c.4249G>C (p.Ala1417Pro)
17g.31258392G>TCA398997771NF1c.10G>T (p.Ala4Ser)
c.4204G>T (p.Ala1402Ser)
n.328G>T
c.213G>T
n.867G>T
c.4252G>T (p.Ala1418Ser)
n.194G>T
c.4222G>T (p.Ala1408Ser)
c.4159G>T (p.Ala1387Ser)
c.3157G>T (p.Ala1053Ser)
c.738G>T
c.675G>T
n.2695G>T
c.4261G>T (p.Ala1421Ser)
c.4213G>T (p.Ala1405Ser)
c.4189G>T (p.Ala1397Ser)
c.4249G>T (p.Ala1417Ser)
17g.31258393C>ACA398997775NF1c.11C>A (p.Ala4Asp)
c.4205C>A (p.Ala1402Asp)
n.329C>A
c.214C>A
n.868C>A
c.4253C>A (p.Ala1418Asp)
n.195C>A
c.4223C>A (p.Ala1408Asp)
c.4160C>A (p.Ala1387Asp)
c.3158C>A (p.Ala1053Asp)
c.739C>A
c.676C>A
n.2696C>A
c.4262C>A (p.Ala1421Asp)
c.4214C>A (p.Ala1405Asp)
c.4190C>A (p.Ala1397Asp)
c.4250C>A (p.Ala1417Asp)
 ClinVar dbSNP
17g.31258393C>GCA398997777NF1c.11C>G (p.Ala4Gly)
c.4205C>G (p.Ala1402Gly)
n.329C>G
c.214C>G
n.868C>G
c.4253C>G (p.Ala1418Gly)
n.195C>G
c.4223C>G (p.Ala1408Gly)
c.4160C>G (p.Ala1387Gly)
c.3158C>G (p.Ala1053Gly)
c.739C>G
c.676C>G
n.2696C>G
c.4262C>G (p.Ala1421Gly)
c.4214C>G (p.Ala1405Gly)
c.4190C>G (p.Ala1397Gly)
c.4250C>G (p.Ala1417Gly)
 dbSNP
17g.31258393C>TCA398997780NF1c.11C>T (p.Ala4Val)
c.4205C>T (p.Ala1402Val)
n.329C>T
c.214C>T
n.868C>T
c.4253C>T (p.Ala1418Val)
n.195C>T
c.4223C>T (p.Ala1408Val)
c.4160C>T (p.Ala1387Val)
c.3158C>T (p.Ala1053Val)
c.739C>T
c.676C>T
n.2696C>T
c.4262C>T (p.Ala1421Val)
c.4214C>T (p.Ala1405Val)
c.4190C>T (p.Ala1397Val)
c.4250C>T (p.Ala1417Val)
 dbSNP
17g.31258394delCA2695225653NF1c.12del (p.Met5CysfsTer19)
c.4206del (p.Met1403CysfsTer19)
n.330del
c.215del
n.869del
c.4254del (p.Met1419CysfsTer19)
n.196del
c.4224del (p.Met1409CysfsTer19)
c.4161del (p.Met1388CysfsTer19)
c.3159del (p.Met1054CysfsTer19)
c.740del
c.677del
n.2697del
c.4263del (p.Met1422CysfsTer19)
c.4215del (p.Met1406CysfsTer19)
c.4191del (p.Met1398CysfsTer19)
c.4251del (p.Met1418CysfsTer19)
17g.31258394C>ACA499233428NF1c.12C>A (p.Ala4=)
c.4206C>A (p.Ala1402=)
n.330C>A
c.215C>A
n.869C>A
c.4254C>A (p.Ala1418=)
n.196C>A
c.4224C>A (p.Ala1408=)
c.4161C>A (p.Ala1387=)
c.3159C>A (p.Ala1053=)
c.740C>A
c.677C>A
n.2697C>A
c.4263C>A (p.Ala1421=)
c.4215C>A (p.Ala1405=)
c.4191C>A (p.Ala1397=)
c.4251C>A (p.Ala1417=)
17g.31258394C>GCA499233430NF1c.12C>G (p.Ala4=)
c.4206C>G (p.Ala1402=)
n.330C>G
c.215C>G
n.869C>G
c.4254C>G (p.Ala1418=)
n.196C>G
c.4224C>G (p.Ala1408=)
c.4161C>G (p.Ala1387=)
c.3159C>G (p.Ala1053=)
c.740C>G
c.677C>G
n.2697C>G
c.4263C>G (p.Ala1421=)
c.4215C>G (p.Ala1405=)
c.4191C>G (p.Ala1397=)
c.4251C>G (p.Ala1417=)
 dbSNP
17g.31258394C>TCA499233432NF1c.12C>T (p.Ala4=)
c.4206C>T (p.Ala1402=)
n.330C>T
c.215C>T
n.869C>T
c.4254C>T (p.Ala1418=)
n.196C>T
c.4224C>T (p.Ala1408=)
c.4161C>T (p.Ala1387=)
c.3159C>T (p.Ala1053=)
c.740C>T
c.677C>T
n.2697C>T
c.4263C>T (p.Ala1421=)
c.4215C>T (p.Ala1405=)
c.4191C>T (p.Ala1397=)
c.4251C>T (p.Ala1417=)
 dbSNP
17g.31258395delCA2695225654NF1c.13del (p.Met5CysfsTer19)
c.4207del (p.Met1403CysfsTer19)
n.331del
c.216del
n.870del
c.4255del (p.Met1419CysfsTer19)
n.197del
c.4225del (p.Met1409CysfsTer19)
c.4162del (p.Met1388CysfsTer19)
c.3160del (p.Met1054CysfsTer19)
c.741del
c.678del
n.2698del
c.4264del (p.Met1422CysfsTer19)
c.4216del (p.Met1406CysfsTer19)
c.4192del (p.Met1398CysfsTer19)
c.4252del (p.Met1418CysfsTer19)
17g.31258395A=CA2255573442NF1c.13A= (p.Met5=)
c.4207A= (p.Met1403=)
n.331A=
c.216A=
n.870A=
c.4255A= (p.Met1419=)
n.197A=
c.4225A= (p.Met1409=)
c.4162A= (p.Met1388=)
c.3160A= (p.Met1054=)
c.741A=
c.678A=
n.2698A=
c.4264A= (p.Met1422=)
c.4216A= (p.Met1406=)
c.4192A= (p.Met1398=)
c.4252A= (p.Met1418=)
17g.31258395A>CCA398997782NF1c.13A>C (p.Met5Leu)
c.4207A>C (p.Met1403Leu)
n.331A>C
c.216A>C
n.870A>C
c.4255A>C (p.Met1419Leu)
n.197A>C
c.4225A>C (p.Met1409Leu)
c.4162A>C (p.Met1388Leu)
c.3160A>C (p.Met1054Leu)
c.741A>C
c.678A>C
n.2698A>C
c.4264A>C (p.Met1422Leu)
c.4216A>C (p.Met1406Leu)
c.4192A>C (p.Met1398Leu)
c.4252A>C (p.Met1418Leu)
 dbSNP
17g.31258395A>GCA16615247NF1c.13A>G (p.Met5Val)
c.4207A>G (p.Met1403Val)
n.331A>G
c.216A>G
n.870A>G
c.4255A>G (p.Met1419Val)
n.197A>G
c.4225A>G (p.Met1409Val)
c.4162A>G (p.Met1388Val)
c.3160A>G (p.Met1054Val)
c.741A>G
c.678A>G
n.2698A>G
c.4264A>G (p.Met1422Val)
c.4216A>G (p.Met1406Val)
c.4192A>G (p.Met1398Val)
c.4252A>G (p.Met1418Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31258395A>TCA398997784NF1c.13A>T (p.Met5Leu)
c.4207A>T (p.Met1403Leu)
n.331A>T
c.216A>T
n.870A>T
c.4255A>T (p.Met1419Leu)
n.197A>T
c.4225A>T (p.Met1409Leu)
c.4162A>T (p.Met1388Leu)
c.3160A>T (p.Met1054Leu)
c.741A>T
c.678A>T
n.2698A>T
c.4264A>T (p.Met1422Leu)
c.4216A>T (p.Met1406Leu)
c.4192A>T (p.Met1398Leu)
c.4252A>T (p.Met1418Leu)
 dbSNP
17g.31258395dupCA2580092869NF1c.13dup (p.Met5AsnfsTer15)
c.4207dup (p.Met1403AsnfsTer15)
n.331dup
c.216dup
n.870dup
c.4255dup (p.Met1419AsnfsTer15)
n.197dup
c.4225dup (p.Met1409AsnfsTer15)
c.4162dup (p.Met1388AsnfsTer15)
c.3160dup (p.Met1054AsnfsTer15)
c.741dup
c.678dup
n.2698dup
c.4264dup (p.Met1422AsnfsTer15)
c.4216dup (p.Met1406AsnfsTer15)
c.4192dup (p.Met1398AsnfsTer15)
c.4252dup (p.Met1418AsnfsTer15)
 ClinVar
17g.31258396T>ACA398997789NF1c.14T>A (p.Met5Lys)
c.4208T>A (p.Met1403Lys)
n.332T>A
c.217T>A
n.871T>A
c.4256T>A (p.Met1419Lys)
n.198T>A
c.4226T>A (p.Met1409Lys)
c.4163T>A (p.Met1388Lys)
c.3161T>A (p.Met1054Lys)
c.742T>A
c.679T>A
n.2699T>A
c.4265T>A (p.Met1422Lys)
c.4217T>A (p.Met1406Lys)
c.4193T>A (p.Met1398Lys)
c.4253T>A (p.Met1418Lys)
17g.31258396T>CCA398997792NF1c.14T>C (p.Met5Thr)
c.4208T>C (p.Met1403Thr)
n.332T>C
c.217T>C
n.871T>C
c.4256T>C (p.Met1419Thr)
n.198T>C
c.4226T>C (p.Met1409Thr)
c.4163T>C (p.Met1388Thr)
c.3161T>C (p.Met1054Thr)
c.742T>C
c.679T>C
n.2699T>C
c.4265T>C (p.Met1422Thr)
c.4217T>C (p.Met1406Thr)
c.4193T>C (p.Met1398Thr)
c.4253T>C (p.Met1418Thr)
 ClinVar dbSNP
17g.31258396T>GCA398997787NF1c.14T>G (p.Met5Arg)
c.4208T>G (p.Met1403Arg)
n.332T>G
c.217T>G
n.871T>G
c.4256T>G (p.Met1419Arg)
n.198T>G
c.4226T>G (p.Met1409Arg)
c.4163T>G (p.Met1388Arg)
c.3161T>G (p.Met1054Arg)
c.742T>G
c.679T>G
n.2699T>G
c.4265T>G (p.Met1422Arg)
c.4217T>G (p.Met1406Arg)
c.4193T>G (p.Met1398Arg)
c.4253T>G (p.Met1418Arg)
 ClinVar dbSNP
17g.31258396T=CA2255573444NF1c.14T= (p.Met5=)
c.4208T= (p.Met1403=)
n.332T=
c.217T=
n.871T=
c.4256T= (p.Met1419=)
n.198T=
c.4226T= (p.Met1409=)
c.4163T= (p.Met1388=)
c.3161T= (p.Met1054=)
c.742T=
c.679T=
n.2699T=
c.4265T= (p.Met1422=)
c.4217T= (p.Met1406=)
c.4193T= (p.Met1398=)
c.4253T= (p.Met1418=)
17g.31258397G>ACA398997799NF1c.15G>A (p.Met5Ile)
c.4209G>A (p.Met1403Ile)
n.333G>A
c.218G>A
n.872G>A
c.4257G>A (p.Met1419Ile)
n.199G>A
c.4227G>A (p.Met1409Ile)
c.4164G>A (p.Met1388Ile)
c.3162G>A (p.Met1054Ile)
c.743G>A
c.680G>A
n.2700G>A
c.4266G>A (p.Met1422Ile)
c.4218G>A (p.Met1406Ile)
c.4194G>A (p.Met1398Ile)
c.4254G>A (p.Met1418Ile)
 ClinVar dbSNP gnomAD v4
17g.31258397G>CCA190890NF1c.15G>C (p.Met5Ile)
c.4209G>C (p.Met1403Ile)
n.333G>C
c.218G>C
n.872G>C
c.4257G>C (p.Met1419Ile)
n.199G>C
c.4227G>C (p.Met1409Ile)
c.4164G>C (p.Met1388Ile)
c.3162G>C (p.Met1054Ile)
c.743G>C
c.680G>C
n.2700G>C
c.4266G>C (p.Met1422Ile)
c.4218G>C (p.Met1406Ile)
c.4194G>C (p.Met1398Ile)
c.4254G>C (p.Met1418Ile)
 ClinVar dbSNP
17g.31258397G=CA2255573446NF1c.15G= (p.Met5=)
c.4209G= (p.Met1403=)
n.333G=
c.218G=
n.872G=
c.4257G= (p.Met1419=)
n.199G=
c.4227G= (p.Met1409=)
c.4164G= (p.Met1388=)
c.3162G= (p.Met1054=)
c.743G=
c.680G=
n.2700G=
c.4266G= (p.Met1422=)
c.4218G= (p.Met1406=)
c.4194G= (p.Met1398=)
c.4254G= (p.Met1418=)
17g.31258397G>TCA398997796NF1c.15G>T (p.Met5Ile)
c.4209G>T (p.Met1403Ile)
n.333G>T
c.218G>T
n.872G>T
c.4257G>T (p.Met1419Ile)
n.199G>T
c.4227G>T (p.Met1409Ile)
c.4164G>T (p.Met1388Ile)
c.3162G>T (p.Met1054Ile)
c.743G>T
c.680G>T
n.2700G>T
c.4266G>T (p.Met1422Ile)
c.4218G>T (p.Met1406Ile)
c.4194G>T (p.Met1398Ile)
c.4254G>T (p.Met1418Ile)
 ClinVar dbSNP
17g.31258397_31258398delinsGTCA2255573448NF1c.15_16delinsGT (p.Met5=)
c.4209_4210delinsGT (p.Met1403=)
n.333_334delinsGT
c.218_219delinsGT
n.872_873delinsGT
c.4257_4258delinsGT (p.Met1419=)
n.199_200delinsGT
c.4227_4228delinsGT (p.Met1409=)
c.4164_4165delinsGT (p.Met1388=)
c.3162_3163delinsGT (p.Met1054=)
c.743_744delinsGT
c.680_681delinsGT
n.2700_2701delinsGT
c.4266_4267delinsGT (p.Met1422=)
c.4218_4219delinsGT (p.Met1406=)
c.4194_4195delinsGT (p.Met1398=)
c.4254_4255delinsGT (p.Met1418=)
17g.31258398T>ACA398997806NF1c.16T>A (p.Phe6Ile)
c.4210T>A (p.Phe1404Ile)
n.334T>A
c.219T>A
n.873T>A
c.4258T>A (p.Phe1420Ile)
n.200T>A
c.4228T>A (p.Phe1410Ile)
c.4165T>A (p.Phe1389Ile)
c.3163T>A (p.Phe1055Ile)
c.744T>A
c.681T>A
n.2701T>A
c.4267T>A (p.Phe1423Ile)
c.4219T>A (p.Phe1407Ile)
c.4195T>A (p.Phe1399Ile)
c.4255T>A (p.Phe1419Ile)
 ClinVar dbSNP
17g.31258398T>CCA398997808NF1c.16T>C (p.Phe6Leu)
c.4210T>C (p.Phe1404Leu)
n.334T>C
c.219T>C
n.873T>C
c.4258T>C (p.Phe1420Leu)
n.200T>C
c.4228T>C (p.Phe1410Leu)
c.4165T>C (p.Phe1389Leu)
c.3163T>C (p.Phe1055Leu)
c.744T>C
c.681T>C
n.2701T>C
c.4267T>C (p.Phe1423Leu)
c.4219T>C (p.Phe1407Leu)
c.4195T>C (p.Phe1399Leu)
c.4255T>C (p.Phe1419Leu)
17g.31258398T>GCA398997810NF1c.16T>G (p.Phe6Val)
c.4210T>G (p.Phe1404Val)
n.334T>G
c.219T>G
n.873T>G
c.4258T>G (p.Phe1420Val)
n.200T>G
c.4228T>G (p.Phe1410Val)
c.4165T>G (p.Phe1389Val)
c.3163T>G (p.Phe1055Val)
c.744T>G
c.681T>G
n.2701T>G
c.4267T>G (p.Phe1423Val)
c.4219T>G (p.Phe1407Val)
c.4195T>G (p.Phe1399Val)
c.4255T>G (p.Phe1419Val)
 ClinVar dbSNP
17g.31258399delCA658658571NF1c.17del (p.Phe6SerfsTer18)
c.4211del (p.Phe1404SerfsTer18)
n.335del
c.220del
n.874del
c.4259del (p.Phe1420SerfsTer18)
n.201del
c.4229del (p.Phe1410SerfsTer18)
c.4166del (p.Phe1389SerfsTer18)
c.3164del (p.Phe1055SerfsTer18)
c.745del
c.682del
n.2702del
c.4268del (p.Phe1423SerfsTer18)
c.4220del (p.Phe1407SerfsTer18)
c.4196del (p.Phe1399SerfsTer18)
c.4256del (p.Phe1419SerfsTer18)
 ClinVar dbSNP
17g.31258399T>ACA398997820NF1c.17T>A (p.Phe6Tyr)
c.4211T>A (p.Phe1404Tyr)
n.335T>A
c.220T>A
n.874T>A
c.4259T>A (p.Phe1420Tyr)
n.201T>A
c.4229T>A (p.Phe1410Tyr)
c.4166T>A (p.Phe1389Tyr)
c.3164T>A (p.Phe1055Tyr)
c.745T>A
c.682T>A
n.2702T>A
c.4268T>A (p.Phe1423Tyr)
c.4220T>A (p.Phe1407Tyr)
c.4196T>A (p.Phe1399Tyr)
c.4256T>A (p.Phe1419Tyr)
17g.31258399T>CCA398997817NF1c.17T>C (p.Phe6Ser)
c.4211T>C (p.Phe1404Ser)
n.335T>C
c.220T>C
n.874T>C
c.4259T>C (p.Phe1420Ser)
n.201T>C
c.4229T>C (p.Phe1410Ser)
c.4166T>C (p.Phe1389Ser)
c.3164T>C (p.Phe1055Ser)
c.745T>C
c.682T>C
n.2702T>C
c.4268T>C (p.Phe1423Ser)
c.4220T>C (p.Phe1407Ser)
c.4196T>C (p.Phe1399Ser)
c.4256T>C (p.Phe1419Ser)
17g.31258399T>GCA398997813NF1c.17T>G (p.Phe6Cys)
c.4211T>G (p.Phe1404Cys)
n.335T>G
c.220T>G
n.874T>G
c.4259T>G (p.Phe1420Cys)
n.201T>G
c.4229T>G (p.Phe1410Cys)
c.4166T>G (p.Phe1389Cys)
c.3164T>G (p.Phe1055Cys)
c.745T>G
c.682T>G
n.2702T>G
c.4268T>G (p.Phe1423Cys)
c.4220T>G (p.Phe1407Cys)
c.4196T>G (p.Phe1399Cys)
c.4256T>G (p.Phe1419Cys)
17g.31258401_31258403delCA2697559740NF1c.19_21del (p.Leu7del)
c.4213_4215del (p.Leu1405del)
n.337_339del
c.222_224del
n.876_878del
c.4261_4263del (p.Leu1421del)
n.203_205del
c.4231_4233del (p.Leu1411del)
c.4168_4170del (p.Leu1390del)
c.3166_3168del (p.Leu1056del)
c.747_749del
c.684_686del
n.2704_2706del
c.4270_4272del (p.Leu1424del)
c.4222_4224del (p.Leu1408del)
c.4198_4200del (p.Leu1400del)
c.4258_4260del (p.Leu1420del)
 ClinVar
17g.31258400C>ACA398997821NF1c.18C>A (p.Phe6Leu)
c.4212C>A (p.Phe1404Leu)
n.336C>A
c.221C>A
n.875C>A
c.4260C>A (p.Phe1420Leu)
n.202C>A
c.4230C>A (p.Phe1410Leu)
c.4167C>A (p.Phe1389Leu)
c.3165C>A (p.Phe1055Leu)
c.746C>A
c.683C>A
n.2703C>A
c.4269C>A (p.Phe1423Leu)
c.4221C>A (p.Phe1407Leu)
c.4197C>A (p.Phe1399Leu)
c.4257C>A (p.Phe1419Leu)
 ClinVar dbSNP
17g.31258400C=CA2255573452NF1c.18C= (p.Phe6=)
c.4212C= (p.Phe1404=)
n.336C=
c.221C=
n.875C=
c.4260C= (p.Phe1420=)
n.202C=
c.4230C= (p.Phe1410=)
c.4167C= (p.Phe1389=)
c.3165C= (p.Phe1055=)
c.746C=
c.683C=
n.2703C=
c.4269C= (p.Phe1423=)
c.4221C= (p.Phe1407=)
c.4197C= (p.Phe1399=)
c.4257C= (p.Phe1419=)
17g.31258400C>GCA16615638NF1c.18C>G (p.Phe6Leu)
c.4212C>G (p.Phe1404Leu)
n.336C>G
c.221C>G
n.875C>G
c.4260C>G (p.Phe1420Leu)
n.202C>G
c.4230C>G (p.Phe1410Leu)
c.4167C>G (p.Phe1389Leu)
c.3165C>G (p.Phe1055Leu)
c.746C>G
c.683C>G
n.2703C>G
c.4269C>G (p.Phe1423Leu)
c.4221C>G (p.Phe1407Leu)
c.4197C>G (p.Phe1399Leu)
c.4257C>G (p.Phe1419Leu)
 ClinVar dbSNP
17g.31258400C>TCA193784NF1c.18C>T (p.Phe6=)
c.4212C>T (p.Phe1404=)
n.336C>T
c.221C>T
n.875C>T
c.4260C>T (p.Phe1420=)
n.202C>T
c.4230C>T (p.Phe1410=)
c.4167C>T (p.Phe1389=)
c.3165C>T (p.Phe1055=)
c.746C>T
c.683C>T
n.2703C>T
c.4269C>T (p.Phe1423=)
c.4221C>T (p.Phe1407=)
c.4197C>T (p.Phe1399=)
c.4257C>T (p.Phe1419=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31258401dupCA2637080440NF1c.19dup (p.Leu7ProfsTer13)
c.4213dup (p.Leu1405ProfsTer13)
n.337dup
c.222dup
n.876dup
c.4261dup (p.Leu1421ProfsTer13)
n.203dup
c.4231dup (p.Leu1411ProfsTer13)
c.4168dup (p.Leu1390ProfsTer13)
c.3166dup (p.Leu1056ProfsTer13)
c.747dup
c.684dup
n.2704dup
c.4270dup (p.Leu1424ProfsTer13)
c.4222dup (p.Leu1408ProfsTer13)
c.4198dup (p.Leu1400ProfsTer13)
c.4258dup (p.Leu1420ProfsTer13)
 gnomAD v4
17g.31258401delCA2580092874NF1c.19del (p.Leu7SerfsTer17)
c.4213del (p.Leu1405SerfsTer17)
n.337del
c.222del
n.876del
c.4261del (p.Leu1421SerfsTer17)
n.203del
c.4231del (p.Leu1411SerfsTer17)
c.4168del (p.Leu1390SerfsTer17)
c.3166del (p.Leu1056SerfsTer17)
c.747del
c.684del
n.2704del
c.4270del (p.Leu1424SerfsTer17)
c.4222del (p.Leu1408SerfsTer17)
c.4198del (p.Leu1400SerfsTer17)
c.4258del (p.Leu1420SerfsTer17)
 ClinVar
17g.31258401C>ACA398997825NF1c.19C>A (p.Leu7Ile)
c.4213C>A (p.Leu1405Ile)
n.337C>A
c.222C>A
n.876C>A
c.4261C>A (p.Leu1421Ile)
n.203C>A
c.4231C>A (p.Leu1411Ile)
c.4168C>A (p.Leu1390Ile)
c.3166C>A (p.Leu1056Ile)
c.747C>A
c.684C>A
n.2704C>A
c.4270C>A (p.Leu1424Ile)
c.4222C>A (p.Leu1408Ile)
c.4198C>A (p.Leu1400Ile)
c.4258C>A (p.Leu1420Ile)
 dbSNP gnomAD v4
17g.31258401C=CA2255573456NF1c.19C= (p.Leu7=)
c.4213C= (p.Leu1405=)
n.337C=
c.222C=
n.876C=
c.4261C= (p.Leu1421=)
n.203C=
c.4231C= (p.Leu1411=)
c.4168C= (p.Leu1390=)
c.3166C= (p.Leu1056=)
c.747C=
c.684C=
n.2704C=
c.4270C= (p.Leu1424=)
c.4222C= (p.Leu1408=)
c.4198C= (p.Leu1400=)
c.4258C= (p.Leu1420=)
17g.31258401C>GCA398997826NF1c.19C>G (p.Leu7Val)
c.4213C>G (p.Leu1405Val)
n.337C>G
c.222C>G
n.876C>G
c.4261C>G (p.Leu1421Val)
n.203C>G
c.4231C>G (p.Leu1411Val)
c.4168C>G (p.Leu1390Val)
c.3166C>G (p.Leu1056Val)
c.747C>G
c.684C>G
n.2704C>G
c.4270C>G (p.Leu1424Val)
c.4222C>G (p.Leu1408Val)
c.4198C>G (p.Leu1400Val)
c.4258C>G (p.Leu1420Val)
 ClinVar dbSNP
17g.31258401C>TCA129599NF1c.19C>T (p.Leu7Phe)
c.4213C>T (p.Leu1405Phe)
n.337C>T
c.222C>T
n.876C>T
c.4261C>T (p.Leu1421Phe)
n.203C>T
c.4231C>T (p.Leu1411Phe)
c.4168C>T (p.Leu1390Phe)
c.3166C>T (p.Leu1056Phe)
c.747C>T
c.684C>T
n.2704C>T
c.4270C>T (p.Leu1424Phe)
c.4222C>T (p.Leu1408Phe)
c.4198C>T (p.Leu1400Phe)
c.4258C>T (p.Leu1420Phe)
 ClinVar dbSNP gnomAD v4
17g.31258401_31258415delinsCTCAGATTTATCAATCA2255573454NF1c.19_33delinsCTCAGATTTATCAAT (p.Leu7=)
c.4213_4227delinsCTCAGATTTATCAAT (p.Leu1405=)
n.337_351delinsCTCAGATTTATCAAT
c.222_236delinsCTCAGATTTATCAAT
n.876_890delinsCTCAGATTTATCAAT
c.4261_4275delinsCTCAGATTTATCAAT (p.Leu1421=)
n.203_217delinsCTCAGATTTATCAAT
c.4231_4245delinsCTCAGATTTATCAAT (p.Leu1411=)
c.4168_4182delinsCTCAGATTTATCAAT (p.Leu1390=)
c.3166_3180delinsCTCAGATTTATCAAT (p.Leu1056=)
c.747_761delinsCTCAGATTTATCAAT
c.684_698delinsCTCAGATTTATCAAT
n.2704_2718delinsCTCAGATTTATCAAT
c.4270_4284delinsCTCAGATTTATCAAT (p.Leu1424=)
c.4222_4236delinsCTCAGATTTATCAAT (p.Leu1408=)
c.4198_4212delinsCTCAGATTTATCAAT (p.Leu1400=)
c.4258_4272delinsCTCAGATTTATCAAT (p.Leu1420=)
17g.31258402T>ACA398997828NF1c.20T>A (p.Leu7His)
c.4214T>A (p.Leu1405His)
n.338T>A
c.223T>A
n.877T>A
c.4262T>A (p.Leu1421His)
n.204T>A
c.4232T>A (p.Leu1411His)
c.4169T>A (p.Leu1390His)
c.3167T>A (p.Leu1056His)
c.748T>A
c.685T>A
n.2705T>A
c.4271T>A (p.Leu1424His)
c.4223T>A (p.Leu1408His)
c.4199T>A (p.Leu1400His)
c.4259T>A (p.Leu1420His)
 dbSNP
17g.31258402T>CCA398997831NF1c.20T>C (p.Leu7Pro)
c.4214T>C (p.Leu1405Pro)
n.338T>C
c.223T>C
n.877T>C
c.4262T>C (p.Leu1421Pro)
n.204T>C
c.4232T>C (p.Leu1411Pro)
c.4169T>C (p.Leu1390Pro)
c.3167T>C (p.Leu1056Pro)
c.748T>C
c.685T>C
n.2705T>C
c.4271T>C (p.Leu1424Pro)
c.4223T>C (p.Leu1408Pro)
c.4199T>C (p.Leu1400Pro)
c.4259T>C (p.Leu1420Pro)
 ClinVar dbSNP
17g.31258402T>GCA398997830NF1c.20T>G (p.Leu7Arg)
c.4214T>G (p.Leu1405Arg)
n.338T>G
c.223T>G
n.877T>G
c.4262T>G (p.Leu1421Arg)
n.204T>G
c.4232T>G (p.Leu1411Arg)
c.4169T>G (p.Leu1390Arg)
c.3167T>G (p.Leu1056Arg)
c.748T>G
c.685T>G
n.2705T>G
c.4271T>G (p.Leu1424Arg)
c.4223T>G (p.Leu1408Arg)
c.4199T>G (p.Leu1400Arg)
c.4259T>G (p.Leu1420Arg)
 ClinVar
17g.31258402T=CA2255573458NF1c.20T= (p.Leu7=)
c.4214T= (p.Leu1405=)
n.338T=
c.223T=
n.877T=
c.4262T= (p.Leu1421=)
n.204T=
c.4232T= (p.Leu1411=)
c.4169T= (p.Leu1390=)
c.3167T= (p.Leu1056=)
c.748T=
c.685T=
n.2705T=
c.4271T= (p.Leu1424=)
c.4223T= (p.Leu1408=)
c.4199T= (p.Leu1400=)
c.4259T= (p.Leu1420=)
17g.31258402_31258415delCA499233438NF1c.20_33del (p.Leu7ProfsTer8)
c.4214_4227del (p.Leu1405ProfsTer8)
n.338_351del
c.223_236del
n.877_890del
c.4262_4275del (p.Leu1421ProfsTer8)
n.204_217del
c.4232_4245del (p.Leu1411ProfsTer8)
c.4169_4182del (p.Leu1390ProfsTer8)
c.3167_3180del (p.Leu1056ProfsTer8)
c.748_761del
c.685_698del
n.2705_2718del
c.4271_4284del (p.Leu1424ProfsTer8)
c.4223_4236del (p.Leu1408ProfsTer8)
c.4199_4212del (p.Leu1400ProfsTer8)
c.4259_4272del (p.Leu1420ProfsTer8)
 dbSNP
17g.31258403C>ACA499233440NF1c.21C>A (p.Leu7=)
c.4215C>A (p.Leu1405=)
n.339C>A
c.224C>A
n.878C>A
c.4263C>A (p.Leu1421=)
n.205C>A
c.4233C>A (p.Leu1411=)
c.4170C>A (p.Leu1390=)
c.3168C>A (p.Leu1056=)
c.749C>A
c.686C>A
n.2706C>A
c.4272C>A (p.Leu1424=)
c.4224C>A (p.Leu1408=)
c.4200C>A (p.Leu1400=)
c.4260C>A (p.Leu1420=)
17g.31258403C>GCA499233441NF1c.21C>G (p.Leu7=)
c.4215C>G (p.Leu1405=)
n.339C>G
c.224C>G
n.878C>G
c.4263C>G (p.Leu1421=)
n.205C>G
c.4233C>G (p.Leu1411=)
c.4170C>G (p.Leu1390=)
c.3168C>G (p.Leu1056=)
c.749C>G
c.686C>G
n.2706C>G
c.4272C>G (p.Leu1424=)
c.4224C>G (p.Leu1408=)
c.4200C>G (p.Leu1400=)
c.4260C>G (p.Leu1420=)
 dbSNP gnomAD v4
17g.31258403C>TCA499233443NF1c.21C>T (p.Leu7=)
c.4215C>T (p.Leu1405=)
n.339C>T
c.224C>T
n.878C>T
c.4263C>T (p.Leu1421=)
n.205C>T
c.4233C>T (p.Leu1411=)
c.4170C>T (p.Leu1390=)
c.3168C>T (p.Leu1056=)
c.749C>T
c.686C>T
n.2706C>T
c.4272C>T (p.Leu1424=)
c.4224C>T (p.Leu1408=)
c.4200C>T (p.Leu1400=)
c.4260C>T (p.Leu1420=)
 dbSNP gnomAD v4
17g.31258404_31258417delCA398997833NF1c.22_35del (p.Arg8CysfsTer7)
c.4216_4229del (p.Arg1406CysfsTer7)
n.340_353del
c.225_238del
n.879_892del
c.4264_4277del (p.Arg1422CysfsTer7)
n.206_219del
c.4234_4247del (p.Arg1412CysfsTer7)
c.4171_4184del (p.Arg1391CysfsTer7)
c.3169_3182del (p.Arg1057CysfsTer7)
c.750_763del
c.687_700del
n.2707_2720del
c.4273_4286del (p.Arg1425CysfsTer7)
c.4225_4238del (p.Arg1409CysfsTer7)
c.4201_4214del (p.Arg1401CysfsTer7)
c.4261_4274del (p.Arg1421CysfsTer7)
17g.31258404A=CA2255573460NF1c.22A= (p.Arg8=)
c.4216A= (p.Arg1406=)
n.340A=
c.225A=
n.879A=
c.4264A= (p.Arg1422=)
n.206A=
c.4234A= (p.Arg1412=)
c.4171A= (p.Arg1391=)
c.3169A= (p.Arg1057=)
c.750A=
c.687A=
n.2707A=
c.4273A= (p.Arg1425=)
c.4225A= (p.Arg1409=)
c.4201A= (p.Arg1401=)
c.4261A= (p.Arg1421=)
17g.31258404A>CCA499233445NF1c.22A>C (p.Arg8=)
c.4216A>C (p.Arg1406=)
n.340A>C
c.225A>C
n.879A>C
c.4264A>C (p.Arg1422=)
n.206A>C
c.4234A>C (p.Arg1412=)
c.4171A>C (p.Arg1391=)
c.3169A>C (p.Arg1057=)
c.750A>C
c.687A>C
n.2707A>C
c.4273A>C (p.Arg1425=)
c.4225A>C (p.Arg1409=)
c.4201A>C (p.Arg1401=)
c.4261A>C (p.Arg1421=)
 ClinVar dbSNP
17g.31258404A>GCA398997834NF1c.22A>G (p.Arg8Gly)
c.4216A>G (p.Arg1406Gly)
n.340A>G
c.225A>G
n.879A>G
c.4264A>G (p.Arg1422Gly)
n.206A>G
c.4234A>G (p.Arg1412Gly)
c.4171A>G (p.Arg1391Gly)
c.3169A>G (p.Arg1057Gly)
c.750A>G
c.687A>G
n.2707A>G
c.4273A>G (p.Arg1425Gly)
c.4225A>G (p.Arg1409Gly)
c.4201A>G (p.Arg1401Gly)
c.4261A>G (p.Arg1421Gly)
 ClinVar dbSNP
17g.31258404A>TCA398997836NF1c.22A>T (p.Arg8Ter)
c.4216A>T (p.Arg1406Ter)
n.340A>T
c.225A>T
n.879A>T
c.4264A>T (p.Arg1422Ter)
n.206A>T
c.4234A>T (p.Arg1412Ter)
c.4171A>T (p.Arg1391Ter)
c.3169A>T (p.Arg1057Ter)
c.750A>T
c.687A>T
n.2707A>T
c.4273A>T (p.Arg1425Ter)
c.4225A>T (p.Arg1409Ter)
c.4201A>T (p.Arg1401Ter)
c.4261A>T (p.Arg1421Ter)
 dbSNP
17g.31258405_31258410delCA2499224127NF1c.23_28del (p.Arg8_Phe9del)
c.4217_4222del (p.Arg1406_Phe1407del)
n.341_346del
c.226_231del
n.880_885del
c.4265_4270del (p.Arg1422_Phe1423del)
n.207_212del
c.4235_4240del (p.Arg1412_Phe1413del)
c.4172_4177del (p.Arg1391_Phe1392del)
c.3170_3175del (p.Arg1057_Phe1058del)
c.751_756del
c.688_693del
n.2708_2713del
c.4274_4279del (p.Arg1425_Phe1426del)
c.4226_4231del (p.Arg1409_Phe1410del)
c.4202_4207del (p.Arg1401_Phe1402del)
c.4262_4267del (p.Arg1421_Phe1422del)
 ClinVar dbSNP
17g.31258405G>ACA398997838NF1c.23G>A (p.Arg8Lys)
c.4217G>A (p.Arg1406Lys)
n.341G>A
c.226G>A
n.880G>A
c.4265G>A (p.Arg1422Lys)
n.207G>A
c.4235G>A (p.Arg1412Lys)
c.4172G>A (p.Arg1391Lys)
c.3170G>A (p.Arg1057Lys)
c.751G>A
c.688G>A
n.2708G>A
c.4274G>A (p.Arg1425Lys)
c.4226G>A (p.Arg1409Lys)
c.4202G>A (p.Arg1401Lys)
c.4262G>A (p.Arg1421Lys)
 ClinVar dbSNP
17g.31258405G>CCA398997839NF1c.23G>C (p.Arg8Thr)
c.4217G>C (p.Arg1406Thr)
n.341G>C
c.226G>C
n.880G>C
c.4265G>C (p.Arg1422Thr)
n.207G>C
c.4235G>C (p.Arg1412Thr)
c.4172G>C (p.Arg1391Thr)
c.3170G>C (p.Arg1057Thr)
c.751G>C
c.688G>C
n.2708G>C
c.4274G>C (p.Arg1425Thr)
c.4226G>C (p.Arg1409Thr)
c.4202G>C (p.Arg1401Thr)
c.4262G>C (p.Arg1421Thr)
 ClinVar dbSNP gnomAD v4
17g.31258405G=CA2255573462NF1c.23G= (p.Arg8=)
c.4217G= (p.Arg1406=)
n.341G=
c.226G=
n.880G=
c.4265G= (p.Arg1422=)
n.207G=
c.4235G= (p.Arg1412=)
c.4172G= (p.Arg1391=)
c.3170G= (p.Arg1057=)
c.751G=
c.688G=
n.2708G=
c.4274G= (p.Arg1425=)
c.4226G= (p.Arg1409=)
c.4202G= (p.Arg1401=)
c.4262G= (p.Arg1421=)
17g.31258405G>TCA398997841NF1c.23G>T (p.Arg8Ile)
c.4217G>T (p.Arg1406Ile)
n.341G>T
c.226G>T
n.880G>T
c.4265G>T (p.Arg1422Ile)
n.207G>T
c.4235G>T (p.Arg1412Ile)
c.4172G>T (p.Arg1391Ile)
c.3170G>T (p.Arg1057Ile)
c.751G>T
c.688G>T
n.2708G>T
c.4274G>T (p.Arg1425Ile)
c.4226G>T (p.Arg1409Ile)
c.4202G>T (p.Arg1401Ile)
c.4262G>T (p.Arg1421Ile)
 ClinVar
17g.31258405_31258406delinsCTCA2697559741NF1c.23_24delinsCT (p.Arg8Thr)
c.4217_4218delinsCT (p.Arg1406Thr)
n.341_342delinsCT
c.226_227delinsCT
n.880_881delinsCT
c.4265_4266delinsCT (p.Arg1422Thr)
n.207_208delinsCT
c.4235_4236delinsCT (p.Arg1412Thr)
c.4172_4173delinsCT (p.Arg1391Thr)
c.3170_3171delinsCT (p.Arg1057Thr)
c.751_752delinsCT
c.688_689delinsCT
n.2708_2709delinsCT
c.4274_4275delinsCT (p.Arg1425Thr)
c.4226_4227delinsCT (p.Arg1409Thr)
c.4202_4203delinsCT (p.Arg1401Thr)
c.4262_4263delinsCT (p.Arg1421Thr)
 ClinVar
17g.31258406A=CA2255573465NF1c.24A= (p.Arg8=)
c.4218A= (p.Arg1406=)
n.342A=
c.227A=
n.881A=
c.4266A= (p.Arg1422=)
n.208A=
c.4236A= (p.Arg1412=)
c.4173A= (p.Arg1391=)
c.3171A= (p.Arg1057=)
c.752A=
c.689A=
n.2709A=
c.4275A= (p.Arg1425=)
c.4227A= (p.Arg1409=)
c.4203A= (p.Arg1401=)
c.4263A= (p.Arg1421=)
17g.31258406A>CCA398997843NF1c.24A>C (p.Arg8Ser)
c.4218A>C (p.Arg1406Ser)
n.342A>C
c.227A>C
n.881A>C
c.4266A>C (p.Arg1422Ser)
n.208A>C
c.4236A>C (p.Arg1412Ser)
c.4173A>C (p.Arg1391Ser)
c.3171A>C (p.Arg1057Ser)
c.752A>C
c.689A>C
n.2709A>C
c.4275A>C (p.Arg1425Ser)
c.4227A>C (p.Arg1409Ser)
c.4203A>C (p.Arg1401Ser)
c.4263A>C (p.Arg1421Ser)
 ClinVar dbSNP
17g.31258406A>GCA499233446NF1c.24A>G (p.Arg8=)
c.4218A>G (p.Arg1406=)
n.342A>G
c.227A>G
n.881A>G
c.4266A>G (p.Arg1422=)
n.208A>G
c.4236A>G (p.Arg1412=)
c.4173A>G (p.Arg1391=)
c.3171A>G (p.Arg1057=)
c.752A>G
c.689A>G
n.2709A>G
c.4275A>G (p.Arg1425=)
c.4227A>G (p.Arg1409=)
c.4203A>G (p.Arg1401=)
c.4263A>G (p.Arg1421=)
17g.31258406A>TCA251459NF1c.24A>T (p.Arg8Ser)
c.4218A>T (p.Arg1406Ser)
n.342A>T
c.227A>T
n.881A>T
c.4266A>T (p.Arg1422Ser)
n.208A>T
c.4236A>T (p.Arg1412Ser)
c.4173A>T (p.Arg1391Ser)
c.3171A>T (p.Arg1057Ser)
c.752A>T
c.689A>T
n.2709A>T
c.4275A>T (p.Arg1425Ser)
c.4227A>T (p.Arg1409Ser)
c.4203A>T (p.Arg1401Ser)
c.4263A>T (p.Arg1421Ser)
 ClinVar dbSNP
17g.31258406_31258407delCA2573054387NF1c.24_25del (p.Arg8SerfsTer11)
c.4218_4219del (p.Arg1406SerfsTer11)
n.342_343del
c.227_228del
n.881_882del
c.4266_4267del (p.Arg1422SerfsTer11)
n.208_209del
c.4236_4237del (p.Arg1412SerfsTer11)
c.4173_4174del (p.Arg1391SerfsTer11)
c.3171_3172del (p.Arg1057SerfsTer11)
c.752_753del
c.689_690del
n.2709_2710del
c.4275_4276del (p.Arg1425SerfsTer11)
c.4227_4228del (p.Arg1409SerfsTer11)
c.4203_4204del (p.Arg1401SerfsTer11)
c.4263_4264del (p.Arg1421SerfsTer11)
 ClinVar dbSNP
17g.31258406_31258407delinsATCA2255573466NF1c.24_25delinsAT (p.Arg8=)
c.4218_4219delinsAT (p.Arg1406=)
n.342_343delinsAT
c.227_228delinsAT
n.881_882delinsAT
c.4266_4267delinsAT (p.Arg1422=)
n.208_209delinsAT
c.4236_4237delinsAT (p.Arg1412=)
c.4173_4174delinsAT (p.Arg1391=)
c.3171_3172delinsAT (p.Arg1057=)
c.752_753delinsAT
c.689_690delinsAT
n.2709_2710delinsAT
c.4275_4276delinsAT (p.Arg1425=)
c.4227_4228delinsAT (p.Arg1409=)
c.4203_4204delinsAT (p.Arg1401=)
c.4263_4264delinsAT (p.Arg1421=)

Number of alleles fetched