Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31258951_31259135delCA2695225671NF1c.121-81_218+6del
c.4315-81_4412+6del
n.439-81_536+6del
c.324-81_421+6del
n.978-81_1075+6del
c.4363-81_4460+6del
n.305-81_408del
c.4333-81_4430+6del
c.4270-81_4367+6del
c.3268-81_3365+6del
c.849-81_946+6del
c.786-81_883+6del
n.2806-81_2903+6del
c.4372-81_4469+6del
c.4324-81_4421+6del
c.4300-81_4397+6del
c.4360-81_4457+6del
17g.31259000_31259001insAGATTATTTAATGTATAGACTTCATACAATAAATAATCCA2637081144NF1c.121-32_121-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.121-32_121-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.4315-32_4315-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4315-32_4315-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
n.439-32_439-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
c.324-32_324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
n.978-32_978-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
c.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4363-32_4363-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
n.305-32_305-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
c.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4333-32_4333-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.4270-32_4270-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4270-32_4270-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.3268-32_3268-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.3268-32_3268-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.849-32_849-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
c.786-32_786-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
n.2806-32_2806-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC
c.4372-32_4372-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4372-32_4372-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4324-32_4324-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.4300-32_4300-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4300-32_4300-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
c.4360-32_4360-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC (n.4360-32_4360-31insAGATTATTTAATGTATAGACTTCATACAATAAATAATC)
 gnomAD v4
17g.31258995_31258998delCA2637081180NF1c.121-37_121-34del (n.121-37_121-34del)
c.4315-37_4315-34del (n.4315-37_4315-34del)
n.439-37_439-34del
c.324-37_324-34del
n.978-37_978-34del
c.4363-37_4363-34del (n.4363-37_4363-34del)
n.305-37_305-34del
c.4333-37_4333-34del (n.4333-37_4333-34del)
c.4270-37_4270-34del (n.4270-37_4270-34del)
c.3268-37_3268-34del (n.3268-37_3268-34del)
c.849-37_849-34del
c.786-37_786-34del
n.2806-37_2806-34del
c.4372-37_4372-34del (n.4372-37_4372-34del)
c.4324-37_4324-34del (n.4324-37_4324-34del)
c.4300-37_4300-34del (n.4300-37_4300-34del)
c.4360-37_4360-34del (n.4360-37_4360-34del)
 gnomAD v4
17g.31258997_31258999delCA2809191360NF1c.121-35_121-33del (n.121-35_121-33del)
c.4315-35_4315-33del (n.4315-35_4315-33del)
n.439-35_439-33del
c.324-35_324-33del
n.978-35_978-33del
c.4363-35_4363-33del (n.4363-35_4363-33del)
n.305-35_305-33del
c.4333-35_4333-33del (n.4333-35_4333-33del)
c.4270-35_4270-33del (n.4270-35_4270-33del)
c.3268-35_3268-33del (n.3268-35_3268-33del)
c.849-35_849-33del
c.786-35_786-33del
n.2806-35_2806-33del
c.4372-35_4372-33del (n.4372-35_4372-33del)
c.4324-35_4324-33del (n.4324-35_4324-33del)
c.4300-35_4300-33del (n.4300-35_4300-33del)
c.4360-35_4360-33del (n.4360-35_4360-33del)
17g.31258998A=CA2255574137NF1c.121-34A= (n.121-34A=)
c.4315-34A= (n.4315-34A=)
n.439-34A=
c.324-34A=
n.978-34A=
c.4363-34A= (n.4363-34A=)
n.305-34A=
c.4333-34A= (n.4333-34A=)
c.4270-34A= (n.4270-34A=)
c.3268-34A= (n.3268-34A=)
c.849-34A=
c.786-34A=
n.2806-34A=
c.4372-34A= (n.4372-34A=)
c.4324-34A= (n.4324-34A=)
c.4300-34A= (n.4300-34A=)
c.4360-34A= (n.4360-34A=)
17g.31258998A>TCA2255574138NF1c.121-34A>T (n.121-34A>T)
c.4315-34A>T (n.4315-34A>T)
n.439-34A>T
c.324-34A>T
n.978-34A>T
c.4363-34A>T (n.4363-34A>T)
n.305-34A>T
c.4333-34A>T (n.4333-34A>T)
c.4270-34A>T (n.4270-34A>T)
c.3268-34A>T (n.3268-34A>T)
c.849-34A>T
c.786-34A>T
n.2806-34A>T
c.4372-34A>T (n.4372-34A>T)
c.4324-34A>T (n.4324-34A>T)
c.4300-34A>T (n.4300-34A>T)
c.4360-34A>T (n.4360-34A>T)
 dbSNP
17g.31258999T>ACA2733600529NF1c.121-33T>A (n.121-33T>A)
c.4315-33T>A (n.4315-33T>A)
n.439-33T>A
c.324-33T>A
n.978-33T>A
c.4363-33T>A (n.4363-33T>A)
n.305-33T>A
c.4333-33T>A (n.4333-33T>A)
c.4270-33T>A (n.4270-33T>A)
c.3268-33T>A (n.3268-33T>A)
c.849-33T>A
c.786-33T>A
n.2806-33T>A
c.4372-33T>A (n.4372-33T>A)
c.4324-33T>A (n.4324-33T>A)
c.4300-33T>A (n.4300-33T>A)
c.4360-33T>A (n.4360-33T>A)
 dbSNP
17g.31258999T>CCA2733600528NF1c.121-33T>C (n.121-33T>C)
c.4315-33T>C (n.4315-33T>C)
n.439-33T>C
c.324-33T>C
n.978-33T>C
c.4363-33T>C (n.4363-33T>C)
n.305-33T>C
c.4333-33T>C (n.4333-33T>C)
c.4270-33T>C (n.4270-33T>C)
c.3268-33T>C (n.3268-33T>C)
c.849-33T>C
c.786-33T>C
n.2806-33T>C
c.4372-33T>C (n.4372-33T>C)
c.4324-33T>C (n.4324-33T>C)
c.4300-33T>C (n.4300-33T>C)
c.4360-33T>C (n.4360-33T>C)
 dbSNP
17g.31259000C>ACA2637081189NF1c.121-32C>A (n.121-32C>A)
c.4315-32C>A (n.4315-32C>A)
n.439-32C>A
c.324-32C>A
n.978-32C>A
c.4363-32C>A (n.4363-32C>A)
n.305-32C>A
c.4333-32C>A (n.4333-32C>A)
c.4270-32C>A (n.4270-32C>A)
c.3268-32C>A (n.3268-32C>A)
c.849-32C>A
c.786-32C>A
n.2806-32C>A
c.4372-32C>A (n.4372-32C>A)
c.4324-32C>A (n.4324-32C>A)
c.4300-32C>A (n.4300-32C>A)
c.4360-32C>A (n.4360-32C>A)
 gnomAD v4
17g.31259000C=CA2255574140NF1c.121-32C= (n.121-32C=)
c.4315-32C= (n.4315-32C=)
n.439-32C=
c.324-32C=
n.978-32C=
c.4363-32C= (n.4363-32C=)
n.305-32C=
c.4333-32C= (n.4333-32C=)
c.4270-32C= (n.4270-32C=)
c.3268-32C= (n.3268-32C=)
c.849-32C=
c.786-32C=
n.2806-32C=
c.4372-32C= (n.4372-32C=)
c.4324-32C= (n.4324-32C=)
c.4300-32C= (n.4300-32C=)
c.4360-32C= (n.4360-32C=)
17g.31259000C>GCA8486396NF1c.121-32C>G (n.121-32C>G)
c.4315-32C>G (n.4315-32C>G)
n.439-32C>G
c.324-32C>G
n.978-32C>G
c.4363-32C>G (n.4363-32C>G)
n.305-32C>G
c.4333-32C>G (n.4333-32C>G)
c.4270-32C>G (n.4270-32C>G)
c.3268-32C>G (n.3268-32C>G)
c.849-32C>G
c.786-32C>G
n.2806-32C>G
c.4372-32C>G (n.4372-32C>G)
c.4324-32C>G (n.4324-32C>G)
c.4300-32C>G (n.4300-32C>G)
c.4360-32C>G (n.4360-32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31259000C>TCA2733211539NF1c.121-32C>T (n.121-32C>T)
c.4315-32C>T (n.4315-32C>T)
n.439-32C>T
c.324-32C>T
n.978-32C>T
c.4363-32C>T (n.4363-32C>T)
n.305-32C>T
c.4333-32C>T (n.4333-32C>T)
c.4270-32C>T (n.4270-32C>T)
c.3268-32C>T (n.3268-32C>T)
c.849-32C>T
c.786-32C>T
n.2806-32C>T
c.4372-32C>T (n.4372-32C>T)
c.4324-32C>T (n.4324-32C>T)
c.4300-32C>T (n.4300-32C>T)
c.4360-32C>T (n.4360-32C>T)
 dbSNP
17g.31259001T>ACA2576223257NF1c.121-31T>A (n.121-31T>A)
c.4315-31T>A (n.4315-31T>A)
n.439-31T>A
c.324-31T>A
n.978-31T>A
c.4363-31T>A (n.4363-31T>A)
n.305-31T>A
c.4333-31T>A (n.4333-31T>A)
c.4270-31T>A (n.4270-31T>A)
c.3268-31T>A (n.3268-31T>A)
c.849-31T>A
c.786-31T>A
n.2806-31T>A
c.4372-31T>A (n.4372-31T>A)
c.4324-31T>A (n.4324-31T>A)
c.4300-31T>A (n.4300-31T>A)
c.4360-31T>A (n.4360-31T>A)
 gnomAD v4
17g.31259001dupCA8486397NF1c.121-31dup (n.121-31dup)
c.4315-31dup (n.4315-31dup)
n.439-31dup
c.324-31dup
n.978-31dup
c.4363-31dup (n.4363-31dup)
n.305-31dup
c.4333-31dup (n.4333-31dup)
c.4270-31dup (n.4270-31dup)
c.3268-31dup (n.3268-31dup)
c.849-31dup
c.786-31dup
n.2806-31dup
c.4372-31dup (n.4372-31dup)
c.4324-31dup (n.4324-31dup)
c.4300-31dup (n.4300-31dup)
c.4360-31dup (n.4360-31dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31259002G>ACA2733600610NF1c.121-30G>A (n.121-30G>A)
c.4315-30G>A (n.4315-30G>A)
n.439-30G>A
c.324-30G>A
n.978-30G>A
c.4363-30G>A (n.4363-30G>A)
n.305-30G>A
c.4333-30G>A (n.4333-30G>A)
c.4270-30G>A (n.4270-30G>A)
c.3268-30G>A (n.3268-30G>A)
c.849-30G>A
c.786-30G>A
n.2806-30G>A
c.4372-30G>A (n.4372-30G>A)
c.4324-30G>A (n.4324-30G>A)
c.4300-30G>A (n.4300-30G>A)
c.4360-30G>A (n.4360-30G>A)
 dbSNP
17g.31259002G>CCA2733600567NF1c.121-30G>C (n.121-30G>C)
c.4315-30G>C (n.4315-30G>C)
n.439-30G>C
c.324-30G>C
n.978-30G>C
c.4363-30G>C (n.4363-30G>C)
n.305-30G>C
c.4333-30G>C (n.4333-30G>C)
c.4270-30G>C (n.4270-30G>C)
c.3268-30G>C (n.3268-30G>C)
c.849-30G>C
c.786-30G>C
n.2806-30G>C
c.4372-30G>C (n.4372-30G>C)
c.4324-30G>C (n.4324-30G>C)
c.4300-30G>C (n.4300-30G>C)
c.4360-30G>C (n.4360-30G>C)
 dbSNP
17g.31259002G>TCA2733600566NF1c.121-30G>T (n.121-30G>T)
c.4315-30G>T (n.4315-30G>T)
n.439-30G>T
c.324-30G>T
n.978-30G>T
c.4363-30G>T (n.4363-30G>T)
n.305-30G>T
c.4333-30G>T (n.4333-30G>T)
c.4270-30G>T (n.4270-30G>T)
c.3268-30G>T (n.3268-30G>T)
c.849-30G>T
c.786-30G>T
n.2806-30G>T
c.4372-30G>T (n.4372-30G>T)
c.4324-30G>T (n.4324-30G>T)
c.4300-30G>T (n.4300-30G>T)
c.4360-30G>T (n.4360-30G>T)
 dbSNP
17g.31259003A>TCA2733600612NF1c.121-29A>T (n.121-29A>T)
c.4315-29A>T (n.4315-29A>T)
n.439-29A>T
c.324-29A>T
n.978-29A>T
c.4363-29A>T (n.4363-29A>T)
n.305-29A>T
c.4333-29A>T (n.4333-29A>T)
c.4270-29A>T (n.4270-29A>T)
c.3268-29A>T (n.3268-29A>T)
c.849-29A>T
c.786-29A>T
n.2806-29A>T
c.4372-29A>T (n.4372-29A>T)
c.4324-29A>T (n.4324-29A>T)
c.4300-29A>T (n.4300-29A>T)
c.4360-29A>T (n.4360-29A>T)
 dbSNP
17g.31259004T>ACA2733600682NF1c.121-28T>A (n.121-28T>A)
c.4315-28T>A (n.4315-28T>A)
n.439-28T>A
c.324-28T>A
n.978-28T>A
c.4363-28T>A (n.4363-28T>A)
n.305-28T>A
c.4333-28T>A (n.4333-28T>A)
c.4270-28T>A (n.4270-28T>A)
c.3268-28T>A (n.3268-28T>A)
c.849-28T>A
c.786-28T>A
n.2806-28T>A
c.4372-28T>A (n.4372-28T>A)
c.4324-28T>A (n.4324-28T>A)
c.4300-28T>A (n.4300-28T>A)
c.4360-28T>A (n.4360-28T>A)
 dbSNP
17g.31259004T>CCA2637081196NF1c.121-28T>C (n.121-28T>C)
c.4315-28T>C (n.4315-28T>C)
n.439-28T>C
c.324-28T>C
n.978-28T>C
c.4363-28T>C (n.4363-28T>C)
n.305-28T>C
c.4333-28T>C (n.4333-28T>C)
c.4270-28T>C (n.4270-28T>C)
c.3268-28T>C (n.3268-28T>C)
c.849-28T>C
c.786-28T>C
n.2806-28T>C
c.4372-28T>C (n.4372-28T>C)
c.4324-28T>C (n.4324-28T>C)
c.4300-28T>C (n.4300-28T>C)
c.4360-28T>C (n.4360-28T>C)
 gnomAD v4
17g.31259008_31259011delCA2576223258NF1c.121-24_121-21del (n.121-24_121-21del)
c.4315-24_4315-21del (n.4315-24_4315-21del)
n.439-24_439-21del
c.324-24_324-21del
n.978-24_978-21del
c.4363-24_4363-21del (n.4363-24_4363-21del)
n.305-24_305-21del
c.4333-24_4333-21del (n.4333-24_4333-21del)
c.4270-24_4270-21del (n.4270-24_4270-21del)
c.3268-24_3268-21del (n.3268-24_3268-21del)
c.849-24_849-21del
c.786-24_786-21del
n.2806-24_2806-21del
c.4372-24_4372-21del (n.4372-24_4372-21del)
c.4324-24_4324-21del (n.4324-24_4324-21del)
c.4300-24_4300-21del (n.4300-24_4300-21del)
c.4360-24_4360-21del (n.4360-24_4360-21del)
17g.31259006A>GCA2637081200NF1c.121-26A>G (n.121-26A>G)
c.4315-26A>G (n.4315-26A>G)
n.439-26A>G
c.324-26A>G
n.978-26A>G
c.4363-26A>G (n.4363-26A>G)
n.305-26A>G
c.4333-26A>G (n.4333-26A>G)
c.4270-26A>G (n.4270-26A>G)
c.3268-26A>G (n.3268-26A>G)
c.849-26A>G
c.786-26A>G
n.2806-26A>G
c.4372-26A>G (n.4372-26A>G)
c.4324-26A>G (n.4324-26A>G)
c.4300-26A>G (n.4300-26A>G)
c.4360-26A>G (n.4360-26A>G)
 gnomAD v4
17g.31259006A>TCA2733600706NF1c.121-26A>T (n.121-26A>T)
c.4315-26A>T (n.4315-26A>T)
n.439-26A>T
c.324-26A>T
n.978-26A>T
c.4363-26A>T (n.4363-26A>T)
n.305-26A>T
c.4333-26A>T (n.4333-26A>T)
c.4270-26A>T (n.4270-26A>T)
c.3268-26A>T (n.3268-26A>T)
c.849-26A>T
c.786-26A>T
n.2806-26A>T
c.4372-26A>T (n.4372-26A>T)
c.4324-26A>T (n.4324-26A>T)
c.4300-26A>T (n.4300-26A>T)
c.4360-26A>T (n.4360-26A>T)
 dbSNP
17g.31259007T>ACA2733230799NF1c.121-25T>A (n.121-25T>A)
c.4315-25T>A (n.4315-25T>A)
n.439-25T>A
c.324-25T>A
n.978-25T>A
c.4363-25T>A (n.4363-25T>A)
n.305-25T>A
c.4333-25T>A (n.4333-25T>A)
c.4270-25T>A (n.4270-25T>A)
c.3268-25T>A (n.3268-25T>A)
c.849-25T>A
c.786-25T>A
n.2806-25T>A
c.4372-25T>A (n.4372-25T>A)
c.4324-25T>A (n.4324-25T>A)
c.4300-25T>A (n.4300-25T>A)
c.4360-25T>A (n.4360-25T>A)
 dbSNP
17g.31259007T>CCA625476030NF1c.121-25T>C (n.121-25T>C)
c.4315-25T>C (n.4315-25T>C)
n.439-25T>C
c.324-25T>C
n.978-25T>C
c.4363-25T>C (n.4363-25T>C)
n.305-25T>C
c.4333-25T>C (n.4333-25T>C)
c.4270-25T>C (n.4270-25T>C)
c.3268-25T>C (n.3268-25T>C)
c.849-25T>C
c.786-25T>C
n.2806-25T>C
c.4372-25T>C (n.4372-25T>C)
c.4324-25T>C (n.4324-25T>C)
c.4300-25T>C (n.4300-25T>C)
c.4360-25T>C (n.4360-25T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.31259007T=CA2255574145NF1c.121-25T= (n.121-25T=)
c.4315-25T= (n.4315-25T=)
n.439-25T=
c.324-25T=
n.978-25T=
c.4363-25T= (n.4363-25T=)
n.305-25T=
c.4333-25T= (n.4333-25T=)
c.4270-25T= (n.4270-25T=)
c.3268-25T= (n.3268-25T=)
c.849-25T=
c.786-25T=
n.2806-25T=
c.4372-25T= (n.4372-25T=)
c.4324-25T= (n.4324-25T=)
c.4300-25T= (n.4300-25T=)
c.4360-25T= (n.4360-25T=)
17g.31259010A=CA2255574147NF1c.121-22A= (n.121-22A=)
c.4315-22A= (n.4315-22A=)
n.439-22A=
c.324-22A=
n.978-22A=
c.4363-22A= (n.4363-22A=)
n.305-22A=
c.4333-22A= (n.4333-22A=)
c.4270-22A= (n.4270-22A=)
c.3268-22A= (n.3268-22A=)
c.849-22A=
c.786-22A=
n.2806-22A=
c.4372-22A= (n.4372-22A=)
c.4324-22A= (n.4324-22A=)
c.4300-22A= (n.4300-22A=)
c.4360-22A= (n.4360-22A=)
17g.31259010A>GCA625476033NF1c.121-22A>G (n.121-22A>G)
c.4315-22A>G (n.4315-22A>G)
n.439-22A>G
c.324-22A>G
n.978-22A>G
c.4363-22A>G (n.4363-22A>G)
n.305-22A>G
c.4333-22A>G (n.4333-22A>G)
c.4270-22A>G (n.4270-22A>G)
c.3268-22A>G (n.3268-22A>G)
c.849-22A>G
c.786-22A>G
n.2806-22A>G
c.4372-22A>G (n.4372-22A>G)
c.4324-22A>G (n.4324-22A>G)
c.4300-22A>G (n.4300-22A>G)
c.4360-22A>G (n.4360-22A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.31259010A>TCA2637081203NF1c.121-22A>T (n.121-22A>T)
c.4315-22A>T (n.4315-22A>T)
n.439-22A>T
c.324-22A>T
n.978-22A>T
c.4363-22A>T (n.4363-22A>T)
n.305-22A>T
c.4333-22A>T (n.4333-22A>T)
c.4270-22A>T (n.4270-22A>T)
c.3268-22A>T (n.3268-22A>T)
c.849-22A>T
c.786-22A>T
n.2806-22A>T
c.4372-22A>T (n.4372-22A>T)
c.4324-22A>T (n.4324-22A>T)
c.4300-22A>T (n.4300-22A>T)
c.4360-22A>T (n.4360-22A>T)
 dbSNP gnomAD v4
17g.31259011T>CCA2809191363NF1c.121-21T>C (n.121-21T>C)
c.4315-21T>C (n.4315-21T>C)
n.439-21T>C
c.324-21T>C
n.978-21T>C
c.4363-21T>C (n.4363-21T>C)
n.305-21T>C
c.4333-21T>C (n.4333-21T>C)
c.4270-21T>C (n.4270-21T>C)
c.3268-21T>C (n.3268-21T>C)
c.849-21T>C
c.786-21T>C
n.2806-21T>C
c.4372-21T>C (n.4372-21T>C)
c.4324-21T>C (n.4324-21T>C)
c.4300-21T>C (n.4300-21T>C)
c.4360-21T>C (n.4360-21T>C)
17g.31259012A>GCA2573153616NF1c.121-20A>G (n.121-20A>G)
c.4315-20A>G (n.4315-20A>G)
n.439-20A>G
c.324-20A>G
n.978-20A>G
c.4363-20A>G (n.4363-20A>G)
n.305-20A>G
c.4333-20A>G (n.4333-20A>G)
c.4270-20A>G (n.4270-20A>G)
c.3268-20A>G (n.3268-20A>G)
c.849-20A>G
c.786-20A>G
n.2806-20A>G
c.4372-20A>G (n.4372-20A>G)
c.4324-20A>G (n.4324-20A>G)
c.4300-20A>G (n.4300-20A>G)
c.4360-20A>G (n.4360-20A>G)
 ClinVar dbSNP gnomAD v4
17g.31259012A>TCA2733600807NF1c.121-20A>T (n.121-20A>T)
c.4315-20A>T (n.4315-20A>T)
n.439-20A>T
c.324-20A>T
n.978-20A>T
c.4363-20A>T (n.4363-20A>T)
n.305-20A>T
c.4333-20A>T (n.4333-20A>T)
c.4270-20A>T (n.4270-20A>T)
c.3268-20A>T (n.3268-20A>T)
c.849-20A>T
c.786-20A>T
n.2806-20A>T
c.4372-20A>T (n.4372-20A>T)
c.4324-20A>T (n.4324-20A>T)
c.4300-20A>T (n.4300-20A>T)
c.4360-20A>T (n.4360-20A>T)
 dbSNP
17g.31259013delCA2576223259NF1c.121-19del (n.121-19del)
c.4315-19del (n.4315-19del)
n.439-19del
c.324-19del
n.978-19del
c.4363-19del (n.4363-19del)
n.305-19del
c.4333-19del (n.4333-19del)
c.4270-19del (n.4270-19del)
c.3268-19del (n.3268-19del)
c.849-19del
c.786-19del
n.2806-19del
c.4372-19del (n.4372-19del)
c.4324-19del (n.4324-19del)
c.4300-19del (n.4300-19del)
c.4360-19del (n.4360-19del)
 gnomAD v4
17g.31259013A>CCA2733600816NF1c.121-19A>C (n.121-19A>C)
c.4315-19A>C (n.4315-19A>C)
n.439-19A>C
c.324-19A>C
n.978-19A>C
c.4363-19A>C (n.4363-19A>C)
n.305-19A>C
c.4333-19A>C (n.4333-19A>C)
c.4270-19A>C (n.4270-19A>C)
c.3268-19A>C (n.3268-19A>C)
c.849-19A>C
c.786-19A>C
n.2806-19A>C
c.4372-19A>C (n.4372-19A>C)
c.4324-19A>C (n.4324-19A>C)
c.4300-19A>C (n.4300-19A>C)
c.4360-19A>C (n.4360-19A>C)
 dbSNP
17g.31259013A>TCA2637081215NF1c.121-19A>T (n.121-19A>T)
c.4315-19A>T (n.4315-19A>T)
n.439-19A>T
c.324-19A>T
n.978-19A>T
c.4363-19A>T (n.4363-19A>T)
n.305-19A>T
c.4333-19A>T (n.4333-19A>T)
c.4270-19A>T (n.4270-19A>T)
c.3268-19A>T (n.3268-19A>T)
c.849-19A>T
c.786-19A>T
n.2806-19A>T
c.4372-19A>T (n.4372-19A>T)
c.4324-19A>T (n.4324-19A>T)
c.4300-19A>T (n.4300-19A>T)
c.4360-19A>T (n.4360-19A>T)
 dbSNP gnomAD v4
17g.31259014C>ACA625476034NF1c.121-18C>A (n.121-18C>A)
c.4315-18C>A (n.4315-18C>A)
n.439-18C>A
c.324-18C>A
n.978-18C>A
c.4363-18C>A (n.4363-18C>A)
n.305-18C>A
c.4333-18C>A (n.4333-18C>A)
c.4270-18C>A (n.4270-18C>A)
c.3268-18C>A (n.3268-18C>A)
c.849-18C>A
c.786-18C>A
n.2806-18C>A
c.4372-18C>A (n.4372-18C>A)
c.4324-18C>A (n.4324-18C>A)
c.4300-18C>A (n.4300-18C>A)
c.4360-18C>A (n.4360-18C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31259014C=CA2255574150NF1c.121-18C= (n.121-18C=)
c.4315-18C= (n.4315-18C=)
n.439-18C=
c.324-18C=
n.978-18C=
c.4363-18C= (n.4363-18C=)
n.305-18C=
c.4333-18C= (n.4333-18C=)
c.4270-18C= (n.4270-18C=)
c.3268-18C= (n.3268-18C=)
c.849-18C=
c.786-18C=
n.2806-18C=
c.4372-18C= (n.4372-18C=)
c.4324-18C= (n.4324-18C=)
c.4300-18C= (n.4300-18C=)
c.4360-18C= (n.4360-18C=)
17g.31259014C>GCA2733259406NF1c.121-18C>G (n.121-18C>G)
c.4315-18C>G (n.4315-18C>G)
n.439-18C>G
c.324-18C>G
n.978-18C>G
c.4363-18C>G (n.4363-18C>G)
n.305-18C>G
c.4333-18C>G (n.4333-18C>G)
c.4270-18C>G (n.4270-18C>G)
c.3268-18C>G (n.3268-18C>G)
c.849-18C>G
c.786-18C>G
n.2806-18C>G
c.4372-18C>G (n.4372-18C>G)
c.4324-18C>G (n.4324-18C>G)
c.4300-18C>G (n.4300-18C>G)
c.4360-18C>G (n.4360-18C>G)
 dbSNP
17g.31259014C>TCA625476035NF1c.121-18C>T (n.121-18C>T)
c.4315-18C>T (n.4315-18C>T)
n.439-18C>T
c.324-18C>T
n.978-18C>T
c.4363-18C>T (n.4363-18C>T)
n.305-18C>T
c.4333-18C>T (n.4333-18C>T)
c.4270-18C>T (n.4270-18C>T)
c.3268-18C>T (n.3268-18C>T)
c.849-18C>T
c.786-18C>T
n.2806-18C>T
c.4372-18C>T (n.4372-18C>T)
c.4324-18C>T (n.4324-18C>T)
c.4300-18C>T (n.4300-18C>T)
c.4360-18C>T (n.4360-18C>T)
 dbSNP gnomAD v2
17g.31259015C>ACA2637081224NF1c.121-17C>A (n.121-17C>A)
c.4315-17C>A (n.4315-17C>A)
n.439-17C>A
c.324-17C>A
n.978-17C>A
c.4363-17C>A (n.4363-17C>A)
n.305-17C>A
c.4333-17C>A (n.4333-17C>A)
c.4270-17C>A (n.4270-17C>A)
c.3268-17C>A (n.3268-17C>A)
c.849-17C>A
c.786-17C>A
n.2806-17C>A
c.4372-17C>A (n.4372-17C>A)
c.4324-17C>A (n.4324-17C>A)
c.4300-17C>A (n.4300-17C>A)
c.4360-17C>A (n.4360-17C>A)
 dbSNP gnomAD v4
17g.31259015C=CA2255574152NF1c.121-17C= (n.121-17C=)
c.4315-17C= (n.4315-17C=)
n.439-17C=
c.324-17C=
n.978-17C=
c.4363-17C= (n.4363-17C=)
n.305-17C=
c.4333-17C= (n.4333-17C=)
c.4270-17C= (n.4270-17C=)
c.3268-17C= (n.3268-17C=)
c.849-17C=
c.786-17C=
n.2806-17C=
c.4372-17C= (n.4372-17C=)
c.4324-17C= (n.4324-17C=)
c.4300-17C= (n.4300-17C=)
c.4360-17C= (n.4360-17C=)
17g.31259015C>GCA625476037NF1c.121-17C>G (n.121-17C>G)
c.4315-17C>G (n.4315-17C>G)
n.439-17C>G
c.324-17C>G
n.978-17C>G
c.4363-17C>G (n.4363-17C>G)
n.305-17C>G
c.4333-17C>G (n.4333-17C>G)
c.4270-17C>G (n.4270-17C>G)
c.3268-17C>G (n.3268-17C>G)
c.849-17C>G
c.786-17C>G
n.2806-17C>G
c.4372-17C>G (n.4372-17C>G)
c.4324-17C>G (n.4324-17C>G)
c.4300-17C>G (n.4300-17C>G)
c.4360-17C>G (n.4360-17C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31259015C>TCA2637081230NF1c.121-17C>T (n.121-17C>T)
c.4315-17C>T (n.4315-17C>T)
n.439-17C>T
c.324-17C>T
n.978-17C>T
c.4363-17C>T (n.4363-17C>T)
n.305-17C>T
c.4333-17C>T (n.4333-17C>T)
c.4270-17C>T (n.4270-17C>T)
c.3268-17C>T (n.3268-17C>T)
c.849-17C>T
c.786-17C>T
n.2806-17C>T
c.4372-17C>T (n.4372-17C>T)
c.4324-17C>T (n.4324-17C>T)
c.4300-17C>T (n.4300-17C>T)
c.4360-17C>T (n.4360-17C>T)
 dbSNP gnomAD v4
17g.31259016C>ACA2637081232NF1c.121-16C>A (n.121-16C>A)
c.4315-16C>A (n.4315-16C>A)
n.439-16C>A
c.324-16C>A
n.978-16C>A
c.4363-16C>A (n.4363-16C>A)
n.305-16C>A
c.4333-16C>A (n.4333-16C>A)
c.4270-16C>A (n.4270-16C>A)
c.3268-16C>A (n.3268-16C>A)
c.849-16C>A
c.786-16C>A
n.2806-16C>A
c.4372-16C>A (n.4372-16C>A)
c.4324-16C>A (n.4324-16C>A)
c.4300-16C>A (n.4300-16C>A)
c.4360-16C>A (n.4360-16C>A)
 dbSNP gnomAD v4
17g.31259016C>TCA2733600822NF1c.121-16C>T (n.121-16C>T)
c.4315-16C>T (n.4315-16C>T)
n.439-16C>T
c.324-16C>T
n.978-16C>T
c.4363-16C>T (n.4363-16C>T)
n.305-16C>T
c.4333-16C>T (n.4333-16C>T)
c.4270-16C>T (n.4270-16C>T)
c.3268-16C>T (n.3268-16C>T)
c.849-16C>T
c.786-16C>T
n.2806-16C>T
c.4372-16C>T (n.4372-16C>T)
c.4324-16C>T (n.4324-16C>T)
c.4300-16C>T (n.4300-16C>T)
c.4360-16C>T (n.4360-16C>T)
 dbSNP
17g.31259016_31259017delCA2580092978NF1c.121-16_121-15del (n.121-16_121-15del)
c.4315-16_4315-15del (n.4315-16_4315-15del)
n.439-16_439-15del
c.324-16_324-15del
n.978-16_978-15del
c.4363-16_4363-15del (n.4363-16_4363-15del)
n.305-16_305-15del
c.4333-16_4333-15del (n.4333-16_4333-15del)
c.4270-16_4270-15del (n.4270-16_4270-15del)
c.3268-16_3268-15del (n.3268-16_3268-15del)
c.849-16_849-15del
c.786-16_786-15del
n.2806-16_2806-15del
c.4372-16_4372-15del (n.4372-16_4372-15del)
c.4324-16_4324-15del (n.4324-16_4324-15del)
c.4300-16_4300-15del (n.4300-16_4300-15del)
c.4360-16_4360-15del (n.4360-16_4360-15del)
 ClinVar
17g.31259017T>CCA625476040NF1c.121-15T>C (n.121-15T>C)
c.4315-15T>C (n.4315-15T>C)
n.439-15T>C
c.324-15T>C
n.978-15T>C
c.4363-15T>C (n.4363-15T>C)
n.305-15T>C
c.4333-15T>C (n.4333-15T>C)
c.4270-15T>C (n.4270-15T>C)
c.3268-15T>C (n.3268-15T>C)
c.849-15T>C
c.786-15T>C
n.2806-15T>C
c.4372-15T>C (n.4372-15T>C)
c.4324-15T>C (n.4324-15T>C)
c.4300-15T>C (n.4300-15T>C)
c.4360-15T>C (n.4360-15T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31259017T>GCA625476041NF1c.121-15T>G (n.121-15T>G)
c.4315-15T>G (n.4315-15T>G)
n.439-15T>G
c.324-15T>G
n.978-15T>G
c.4363-15T>G (n.4363-15T>G)
n.305-15T>G
c.4333-15T>G (n.4333-15T>G)
c.4270-15T>G (n.4270-15T>G)
c.3268-15T>G (n.3268-15T>G)
c.849-15T>G
c.786-15T>G
n.2806-15T>G
c.4372-15T>G (n.4372-15T>G)
c.4324-15T>G (n.4324-15T>G)
c.4300-15T>G (n.4300-15T>G)
c.4360-15T>G (n.4360-15T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.31259017T=CA2255574155NF1c.121-15T= (n.121-15T=)
c.4315-15T= (n.4315-15T=)
n.439-15T=
c.324-15T=
n.978-15T=
c.4363-15T= (n.4363-15T=)
n.305-15T=
c.4333-15T= (n.4333-15T=)
c.4270-15T= (n.4270-15T=)
c.3268-15T= (n.3268-15T=)
c.849-15T=
c.786-15T=
n.2806-15T=
c.4372-15T= (n.4372-15T=)
c.4324-15T= (n.4324-15T=)
c.4300-15T= (n.4300-15T=)
c.4360-15T= (n.4360-15T=)
17g.31259018G>ACA2580092981NF1c.121-14G>A (n.121-14G>A)
c.4315-14G>A (n.4315-14G>A)
n.439-14G>A
c.324-14G>A
n.978-14G>A
c.4363-14G>A (n.4363-14G>A)
n.305-14G>A
c.4333-14G>A (n.4333-14G>A)
c.4270-14G>A (n.4270-14G>A)
c.3268-14G>A (n.3268-14G>A)
c.849-14G>A
c.786-14G>A
n.2806-14G>A
c.4372-14G>A (n.4372-14G>A)
c.4324-14G>A (n.4324-14G>A)
c.4300-14G>A (n.4300-14G>A)
c.4360-14G>A (n.4360-14G>A)
 ClinVar dbSNP gnomAD v4
17g.31259018G>CCA982968133NF1c.121-14G>C (n.121-14G>C)
c.4315-14G>C (n.4315-14G>C)
n.439-14G>C
c.324-14G>C
n.978-14G>C
c.4363-14G>C (n.4363-14G>C)
n.305-14G>C
c.4333-14G>C (n.4333-14G>C)
c.4270-14G>C (n.4270-14G>C)
c.3268-14G>C (n.3268-14G>C)
c.849-14G>C
c.786-14G>C
n.2806-14G>C
c.4372-14G>C (n.4372-14G>C)
c.4324-14G>C (n.4324-14G>C)
c.4300-14G>C (n.4300-14G>C)
c.4360-14G>C (n.4360-14G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31259018G=CA2255574158NF1c.121-14G= (n.121-14G=)
c.4315-14G= (n.4315-14G=)
n.439-14G=
c.324-14G=
n.978-14G=
c.4363-14G= (n.4363-14G=)
n.305-14G=
c.4333-14G= (n.4333-14G=)
c.4270-14G= (n.4270-14G=)
c.3268-14G= (n.3268-14G=)
c.849-14G=
c.786-14G=
n.2806-14G=
c.4372-14G= (n.4372-14G=)
c.4324-14G= (n.4324-14G=)
c.4300-14G= (n.4300-14G=)
c.4360-14G= (n.4360-14G=)
17g.31259018G>TCA2637081237NF1c.121-14G>T (n.121-14G>T)
c.4315-14G>T (n.4315-14G>T)
n.439-14G>T
c.324-14G>T
n.978-14G>T
c.4363-14G>T (n.4363-14G>T)
n.305-14G>T
c.4333-14G>T (n.4333-14G>T)
c.4270-14G>T (n.4270-14G>T)
c.3268-14G>T (n.3268-14G>T)
c.849-14G>T
c.786-14G>T
n.2806-14G>T
c.4372-14G>T (n.4372-14G>T)
c.4324-14G>T (n.4324-14G>T)
c.4300-14G>T (n.4300-14G>T)
c.4360-14G>T (n.4360-14G>T)
 gnomAD v4
17g.31259019T>ACA2733600885NF1c.121-13T>A (n.121-13T>A)
c.4315-13T>A (n.4315-13T>A)
n.439-13T>A
c.324-13T>A
n.978-13T>A
c.4363-13T>A (n.4363-13T>A)
n.305-13T>A
c.4333-13T>A (n.4333-13T>A)
c.4270-13T>A (n.4270-13T>A)
c.3268-13T>A (n.3268-13T>A)
c.849-13T>A
c.786-13T>A
n.2806-13T>A
c.4372-13T>A (n.4372-13T>A)
c.4324-13T>A (n.4324-13T>A)
c.4300-13T>A (n.4300-13T>A)
c.4360-13T>A (n.4360-13T>A)
 dbSNP
17g.31259019T>CCA2573153617NF1c.121-13T>C (n.121-13T>C)
c.4315-13T>C (n.4315-13T>C)
n.439-13T>C
c.324-13T>C
n.978-13T>C
c.4363-13T>C (n.4363-13T>C)
n.305-13T>C
c.4333-13T>C (n.4333-13T>C)
c.4270-13T>C (n.4270-13T>C)
c.3268-13T>C (n.3268-13T>C)
c.849-13T>C
c.786-13T>C
n.2806-13T>C
c.4372-13T>C (n.4372-13T>C)
c.4324-13T>C (n.4324-13T>C)
c.4300-13T>C (n.4300-13T>C)
c.4360-13T>C (n.4360-13T>C)
 ClinVar dbSNP gnomAD v4
17g.31259019T>GCA2733600921NF1c.121-13T>G (n.121-13T>G)
c.4315-13T>G (n.4315-13T>G)
n.439-13T>G
c.324-13T>G
n.978-13T>G
c.4363-13T>G (n.4363-13T>G)
n.305-13T>G
c.4333-13T>G (n.4333-13T>G)
c.4270-13T>G (n.4270-13T>G)
c.3268-13T>G (n.3268-13T>G)
c.849-13T>G
c.786-13T>G
n.2806-13T>G
c.4372-13T>G (n.4372-13T>G)
c.4324-13T>G (n.4324-13T>G)
c.4300-13T>G (n.4300-13T>G)
c.4360-13T>G (n.4360-13T>G)
 dbSNP
17g.31259019_31259028delinsAACAGGGTTATAAATACA2580092982NF1c.121-13_121-4delinsAACAGGGTTATAAATA (n.121-13_121-4delinsAACAGGGTTATAAATA)
c.4315-13_4315-4delinsAACAGGGTTATAAATA (n.4315-13_4315-4delinsAACAGGGTTATAAATA)
n.439-13_439-4delinsAACAGGGTTATAAATA
c.324-13_324-4delinsAACAGGGTTATAAATA
n.978-13_978-4delinsAACAGGGTTATAAATA
c.4363-13_4363-4delinsAACAGGGTTATAAATA (n.4363-13_4363-4delinsAACAGGGTTATAAATA)
n.305-13_305-4delinsAACAGGGTTATAAATA
c.4333-13_4333-4delinsAACAGGGTTATAAATA (n.4333-13_4333-4delinsAACAGGGTTATAAATA)
c.4270-13_4270-4delinsAACAGGGTTATAAATA (n.4270-13_4270-4delinsAACAGGGTTATAAATA)
c.3268-13_3268-4delinsAACAGGGTTATAAATA (n.3268-13_3268-4delinsAACAGGGTTATAAATA)
c.849-13_849-4delinsAACAGGGTTATAAATA
c.786-13_786-4delinsAACAGGGTTATAAATA
n.2806-13_2806-4delinsAACAGGGTTATAAATA
c.4372-13_4372-4delinsAACAGGGTTATAAATA (n.4372-13_4372-4delinsAACAGGGTTATAAATA)
c.4324-13_4324-4delinsAACAGGGTTATAAATA (n.4324-13_4324-4delinsAACAGGGTTATAAATA)
c.4300-13_4300-4delinsAACAGGGTTATAAATA (n.4300-13_4300-4delinsAACAGGGTTATAAATA)
c.4360-13_4360-4delinsAACAGGGTTATAAATA (n.4360-13_4360-4delinsAACAGGGTTATAAATA)
 ClinVar
17g.31259022T>CCA728051474NF1c.121-10T>C (n.121-10T>C)
c.4315-10T>C (n.4315-10T>C)
n.439-10T>C
c.324-10T>C
n.978-10T>C
c.4363-10T>C (n.4363-10T>C)
n.305-10T>C
c.4333-10T>C (n.4333-10T>C)
c.4270-10T>C (n.4270-10T>C)
c.3268-10T>C (n.3268-10T>C)
c.849-10T>C
c.786-10T>C
n.2806-10T>C
c.4372-10T>C (n.4372-10T>C)
c.4324-10T>C (n.4324-10T>C)
c.4300-10T>C (n.4300-10T>C)
c.4360-10T>C (n.4360-10T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31259022T=CA2255574162NF1c.121-10T= (n.121-10T=)
c.4315-10T= (n.4315-10T=)
n.439-10T=
c.324-10T=
n.978-10T=
c.4363-10T= (n.4363-10T=)
n.305-10T=
c.4333-10T= (n.4333-10T=)
c.4270-10T= (n.4270-10T=)
c.3268-10T= (n.3268-10T=)
c.849-10T=
c.786-10T=
n.2806-10T=
c.4372-10T= (n.4372-10T=)
c.4324-10T= (n.4324-10T=)
c.4300-10T= (n.4300-10T=)
c.4360-10T= (n.4360-10T=)
17g.31259023A=CA2255574166NF1c.121-9A= (n.121-9A=)
c.4315-9A= (n.4315-9A=)
n.439-9A=
c.324-9A=
n.978-9A=
c.4363-9A= (n.4363-9A=)
n.305-9A=
c.4333-9A= (n.4333-9A=)
c.4270-9A= (n.4270-9A=)
c.3268-9A= (n.3268-9A=)
c.849-9A=
c.786-9A=
n.2806-9A=
c.4372-9A= (n.4372-9A=)
c.4324-9A= (n.4324-9A=)
c.4300-9A= (n.4300-9A=)
c.4360-9A= (n.4360-9A=)
17g.31259023A>GCA2637081253NF1c.121-9A>G (n.121-9A>G)
c.4315-9A>G (n.4315-9A>G)
n.439-9A>G
c.324-9A>G
n.978-9A>G
c.4363-9A>G (n.4363-9A>G)
n.305-9A>G
c.4333-9A>G (n.4333-9A>G)
c.4270-9A>G (n.4270-9A>G)
c.3268-9A>G (n.3268-9A>G)
c.849-9A>G
c.786-9A>G
n.2806-9A>G
c.4372-9A>G (n.4372-9A>G)
c.4324-9A>G (n.4324-9A>G)
c.4300-9A>G (n.4300-9A>G)
c.4360-9A>G (n.4360-9A>G)
 ClinVar gnomAD v4
17g.31259023A>TCA916080601NF1c.121-9A>T (n.121-9A>T)
c.4315-9A>T (n.4315-9A>T)
n.439-9A>T
c.324-9A>T
n.978-9A>T
c.4363-9A>T (n.4363-9A>T)
n.305-9A>T
c.4333-9A>T (n.4333-9A>T)
c.4270-9A>T (n.4270-9A>T)
c.3268-9A>T (n.3268-9A>T)
c.849-9A>T
c.786-9A>T
n.2806-9A>T
c.4372-9A>T (n.4372-9A>T)
c.4324-9A>T (n.4324-9A>T)
c.4300-9A>T (n.4300-9A>T)
c.4360-9A>T (n.4360-9A>T)
 ClinVar dbSNP gnomAD v4
17g.31259024T>CCA2573153618NF1c.121-8T>C (n.121-8T>C)
c.4315-8T>C (n.4315-8T>C)
n.439-8T>C
c.324-8T>C
n.978-8T>C
c.4363-8T>C (n.4363-8T>C)
n.305-8T>C
c.4333-8T>C (n.4333-8T>C)
c.4270-8T>C (n.4270-8T>C)
c.3268-8T>C (n.3268-8T>C)
c.849-8T>C
c.786-8T>C
n.2806-8T>C
c.4372-8T>C (n.4372-8T>C)
c.4324-8T>C (n.4324-8T>C)
c.4300-8T>C (n.4300-8T>C)
c.4360-8T>C (n.4360-8T>C)
 ClinVar dbSNP gnomAD v4
17g.31259024_31259025insCATGAAAATAAGGCA2563716173NF1c.121-8_121-7insCATGAAAATAAGG (n.121-8_121-7insCATGAAAATAAGG)
c.4315-8_4315-7insCATGAAAATAAGG (n.4315-8_4315-7insCATGAAAATAAGG)
n.439-8_439-7insCATGAAAATAAGG
c.324-8_324-7insCATGAAAATAAGG
n.978-8_978-7insCATGAAAATAAGG
c.4363-8_4363-7insCATGAAAATAAGG (n.4363-8_4363-7insCATGAAAATAAGG)
n.305-8_305-7insCATGAAAATAAGG
c.4333-8_4333-7insCATGAAAATAAGG (n.4333-8_4333-7insCATGAAAATAAGG)
c.4270-8_4270-7insCATGAAAATAAGG (n.4270-8_4270-7insCATGAAAATAAGG)
c.3268-8_3268-7insCATGAAAATAAGG (n.3268-8_3268-7insCATGAAAATAAGG)
c.849-8_849-7insCATGAAAATAAGG
c.786-8_786-7insCATGAAAATAAGG
n.2806-8_2806-7insCATGAAAATAAGG
c.4372-8_4372-7insCATGAAAATAAGG (n.4372-8_4372-7insCATGAAAATAAGG)
c.4324-8_4324-7insCATGAAAATAAGG (n.4324-8_4324-7insCATGAAAATAAGG)
c.4300-8_4300-7insCATGAAAATAAGG (n.4300-8_4300-7insCATGAAAATAAGG)
c.4360-8_4360-7insCATGAAAATAAGG (n.4360-8_4360-7insCATGAAAATAAGG)
17g.31259025T>CCA2733600925NF1c.121-7T>C (n.121-7T>C)
c.4315-7T>C (n.4315-7T>C)
n.439-7T>C
c.324-7T>C
n.978-7T>C
c.4363-7T>C (n.4363-7T>C)
n.305-7T>C
c.4333-7T>C (n.4333-7T>C)
c.4270-7T>C (n.4270-7T>C)
c.3268-7T>C (n.3268-7T>C)
c.849-7T>C
c.786-7T>C
n.2806-7T>C
c.4372-7T>C (n.4372-7T>C)
c.4324-7T>C (n.4324-7T>C)
c.4300-7T>C (n.4300-7T>C)
c.4360-7T>C (n.4360-7T>C)
 dbSNP
17g.31259026G>ACA2637081254NF1c.121-6G>A (n.121-6G>A)
c.4315-6G>A (n.4315-6G>A)
n.439-6G>A
c.324-6G>A
n.978-6G>A
c.4363-6G>A (n.4363-6G>A)
n.305-6G>A
c.4333-6G>A (n.4333-6G>A)
c.4270-6G>A (n.4270-6G>A)
c.3268-6G>A (n.3268-6G>A)
c.849-6G>A
c.786-6G>A
n.2806-6G>A
c.4372-6G>A (n.4372-6G>A)
c.4324-6G>A (n.4324-6G>A)
c.4300-6G>A (n.4300-6G>A)
c.4360-6G>A (n.4360-6G>A)
 dbSNP gnomAD v4
17g.31259026G>CCA2733600970NF1c.121-6G>C (n.121-6G>C)
c.4315-6G>C (n.4315-6G>C)
n.439-6G>C
c.324-6G>C
n.978-6G>C
c.4363-6G>C (n.4363-6G>C)
n.305-6G>C
c.4333-6G>C (n.4333-6G>C)
c.4270-6G>C (n.4270-6G>C)
c.3268-6G>C (n.3268-6G>C)
c.849-6G>C
c.786-6G>C
n.2806-6G>C
c.4372-6G>C (n.4372-6G>C)
c.4324-6G>C (n.4324-6G>C)
c.4300-6G>C (n.4300-6G>C)
c.4360-6G>C (n.4360-6G>C)
 dbSNP
17g.31259026G>TCA2573153619NF1c.121-6G>T (n.121-6G>T)
c.4315-6G>T (n.4315-6G>T)
n.439-6G>T
c.324-6G>T
n.978-6G>T
c.4363-6G>T (n.4363-6G>T)
n.305-6G>T
c.4333-6G>T (n.4333-6G>T)
c.4270-6G>T (n.4270-6G>T)
c.3268-6G>T (n.3268-6G>T)
c.849-6G>T
c.786-6G>T
n.2806-6G>T
c.4372-6G>T (n.4372-6G>T)
c.4324-6G>T (n.4324-6G>T)
c.4300-6G>T (n.4300-6G>T)
c.4360-6G>T (n.4360-6G>T)
 ClinVar dbSNP
17g.31259027T>ACA2733257960NF1c.121-5T>A (n.121-5T>A)
c.4315-5T>A (n.4315-5T>A)
n.439-5T>A
c.324-5T>A
n.978-5T>A
c.4363-5T>A (n.4363-5T>A)
n.305-5T>A
c.4333-5T>A (n.4333-5T>A)
c.4270-5T>A (n.4270-5T>A)
c.3268-5T>A (n.3268-5T>A)
c.849-5T>A
c.786-5T>A
n.2806-5T>A
c.4372-5T>A (n.4372-5T>A)
c.4324-5T>A (n.4324-5T>A)
c.4300-5T>A (n.4300-5T>A)
c.4360-5T>A (n.4360-5T>A)
 dbSNP
17g.31259027T>GCA625476043NF1c.121-5T>G (n.121-5T>G)
c.4315-5T>G (n.4315-5T>G)
n.439-5T>G
c.324-5T>G
n.978-5T>G
c.4363-5T>G (n.4363-5T>G)
n.305-5T>G
c.4333-5T>G (n.4333-5T>G)
c.4270-5T>G (n.4270-5T>G)
c.3268-5T>G (n.3268-5T>G)
c.849-5T>G
c.786-5T>G
n.2806-5T>G
c.4372-5T>G (n.4372-5T>G)
c.4324-5T>G (n.4324-5T>G)
c.4300-5T>G (n.4300-5T>G)
c.4360-5T>G (n.4360-5T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31259027T=CA2255574169NF1c.121-5T= (n.121-5T=)
c.4315-5T= (n.4315-5T=)
n.439-5T=
c.324-5T=
n.978-5T=
c.4363-5T= (n.4363-5T=)
n.305-5T=
c.4333-5T= (n.4333-5T=)
c.4270-5T= (n.4270-5T=)
c.3268-5T= (n.3268-5T=)
c.849-5T=
c.786-5T=
n.2806-5T=
c.4372-5T= (n.4372-5T=)
c.4324-5T= (n.4324-5T=)
c.4300-5T= (n.4300-5T=)
c.4360-5T= (n.4360-5T=)
17g.31259028G>ACA289352349NF1c.121-4G>A (n.121-4G>A)
c.4315-4G>A (n.4315-4G>A)
n.439-4G>A
c.324-4G>A
n.978-4G>A
c.4363-4G>A (n.4363-4G>A)
n.305-4G>A
c.4333-4G>A (n.4333-4G>A)
c.4270-4G>A (n.4270-4G>A)
c.3268-4G>A (n.3268-4G>A)
c.849-4G>A
c.786-4G>A
n.2806-4G>A
c.4372-4G>A (n.4372-4G>A)
c.4324-4G>A (n.4324-4G>A)
c.4300-4G>A (n.4300-4G>A)
c.4360-4G>A (n.4360-4G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31259028G>CCA2733206688NF1c.121-4G>C (n.121-4G>C)
c.4315-4G>C (n.4315-4G>C)
n.439-4G>C
c.324-4G>C
n.978-4G>C
c.4363-4G>C (n.4363-4G>C)
n.305-4G>C
c.4333-4G>C (n.4333-4G>C)
c.4270-4G>C (n.4270-4G>C)
c.3268-4G>C (n.3268-4G>C)
c.849-4G>C
c.786-4G>C
n.2806-4G>C
c.4372-4G>C (n.4372-4G>C)
c.4324-4G>C (n.4324-4G>C)
c.4300-4G>C (n.4300-4G>C)
c.4360-4G>C (n.4360-4G>C)
 dbSNP
17g.31259028G=CA2255574176NF1c.121-4G= (n.121-4G=)
c.4315-4G= (n.4315-4G=)
n.439-4G=
c.324-4G=
n.978-4G=
c.4363-4G= (n.4363-4G=)
n.305-4G=
c.4333-4G= (n.4333-4G=)
c.4270-4G= (n.4270-4G=)
c.3268-4G= (n.3268-4G=)
c.849-4G=
c.786-4G=
n.2806-4G=
c.4372-4G= (n.4372-4G=)
c.4324-4G= (n.4324-4G=)
c.4300-4G= (n.4300-4G=)
c.4360-4G= (n.4360-4G=)
17g.31259028G>TCA2733206687NF1c.121-4G>T (n.121-4G>T)
c.4315-4G>T (n.4315-4G>T)
n.439-4G>T
c.324-4G>T
n.978-4G>T
c.4363-4G>T (n.4363-4G>T)
n.305-4G>T
c.4333-4G>T (n.4333-4G>T)
c.4270-4G>T (n.4270-4G>T)
c.3268-4G>T (n.3268-4G>T)
c.849-4G>T
c.786-4G>T
n.2806-4G>T
c.4372-4G>T (n.4372-4G>T)
c.4324-4G>T (n.4324-4G>T)
c.4300-4G>T (n.4300-4G>T)
c.4360-4G>T (n.4360-4G>T)
 dbSNP
17g.31259029T>ACA2255574180NF1c.121-3T>A (n.121-3T>A)
c.4315-3T>A (n.4315-3T>A)
n.439-3T>A
c.324-3T>A
n.978-3T>A
c.4363-3T>A (n.4363-3T>A)
n.305-3T>A
c.4333-3T>A (n.4333-3T>A)
c.4270-3T>A (n.4270-3T>A)
c.3268-3T>A (n.3268-3T>A)
c.849-3T>A
c.786-3T>A
n.2806-3T>A
c.4372-3T>A (n.4372-3T>A)
c.4324-3T>A (n.4324-3T>A)
c.4300-3T>A (n.4300-3T>A)
c.4360-3T>A (n.4360-3T>A)
 dbSNP
17g.31259029T>CCA2255574179NF1c.121-3T>C (n.121-3T>C)
c.4315-3T>C (n.4315-3T>C)
n.439-3T>C
c.324-3T>C
n.978-3T>C
c.4363-3T>C (n.4363-3T>C)
n.305-3T>C
c.4333-3T>C (n.4333-3T>C)
c.4270-3T>C (n.4270-3T>C)
c.3268-3T>C (n.3268-3T>C)
c.849-3T>C
c.786-3T>C
n.2806-3T>C
c.4372-3T>C (n.4372-3T>C)
c.4324-3T>C (n.4324-3T>C)
c.4300-3T>C (n.4300-3T>C)
c.4360-3T>C (n.4360-3T>C)
 ClinVar dbSNP
17g.31259029T=CA2255574181NF1c.121-3T= (n.121-3T=)
c.4315-3T= (n.4315-3T=)
n.439-3T=
c.324-3T=
n.978-3T=
c.4363-3T= (n.4363-3T=)
n.305-3T=
c.4333-3T= (n.4333-3T=)
c.4270-3T= (n.4270-3T=)
c.3268-3T= (n.3268-3T=)
c.849-3T=
c.786-3T=
n.2806-3T=
c.4372-3T= (n.4372-3T=)
c.4324-3T= (n.4324-3T=)
c.4300-3T= (n.4300-3T=)
c.4360-3T= (n.4360-3T=)
17g.31259029_31259030delinsTACA2255574178NF1c.121-3_121-2delinsTA (n.121-3_121-2delinsTA)
c.4315-3_4315-2delinsTA (n.4315-3_4315-2delinsTA)
n.439-3_439-2delinsTA
c.324-3_324-2delinsTA
n.978-3_978-2delinsTA
c.4363-3_4363-2delinsTA (n.4363-3_4363-2delinsTA)
n.305-3_305-2delinsTA
c.4333-3_4333-2delinsTA (n.4333-3_4333-2delinsTA)
c.4270-3_4270-2delinsTA (n.4270-3_4270-2delinsTA)
c.3268-3_3268-2delinsTA (n.3268-3_3268-2delinsTA)
c.849-3_849-2delinsTA
c.786-3_786-2delinsTA
n.2806-3_2806-2delinsTA
c.4372-3_4372-2delinsTA (n.4372-3_4372-2delinsTA)
c.4324-3_4324-2delinsTA (n.4324-3_4324-2delinsTA)
c.4300-3_4300-2delinsTA (n.4300-3_4300-2delinsTA)
c.4360-3_4360-2delinsTA (n.4360-3_4360-2delinsTA)
17g.31259030delCA10603371NF1c.121-2del (n.121-2del)
c.4315-2del (n.4315-2del)
n.439-2del
c.324-2del
n.978-2del
c.4363-2del (n.4363-2del)
n.305-2del
c.4333-2del (n.4333-2del)
c.4270-2del (n.4270-2del)
c.3268-2del (n.3268-2del)
c.849-2del
c.786-2del
n.2806-2del
c.4372-2del (n.4372-2del)
c.4324-2del (n.4324-2del)
c.4300-2del (n.4300-2del)
c.4360-2del (n.4360-2del)
 ClinVar dbSNP
17g.31259030A=CA2255574190NF1c.121-2A= (n.121-2A=)
c.4315-2A= (n.4315-2A=)
n.439-2A=
c.324-2A=
n.978-2A=
c.4363-2A= (n.4363-2A=)
n.305-2A=
c.4333-2A= (n.4333-2A=)
c.4270-2A= (n.4270-2A=)
c.3268-2A= (n.3268-2A=)
c.849-2A=
c.786-2A=
n.2806-2A=
c.4372-2A= (n.4372-2A=)
c.4324-2A= (n.4324-2A=)
c.4300-2A= (n.4300-2A=)
c.4360-2A= (n.4360-2A=)
17g.31259030A>CCA398998667NF1c.121-2A>C (n.121-2A>C)
c.4315-2A>C (n.4315-2A>C)
n.439-2A>C
c.324-2A>C
n.978-2A>C
c.4363-2A>C (n.4363-2A>C)
n.305-2A>C
c.4333-2A>C (n.4333-2A>C)
c.4270-2A>C (n.4270-2A>C)
c.3268-2A>C (n.3268-2A>C)
c.849-2A>C
c.786-2A>C
n.2806-2A>C
c.4372-2A>C (n.4372-2A>C)
c.4324-2A>C (n.4324-2A>C)
c.4300-2A>C (n.4300-2A>C)
c.4360-2A>C (n.4360-2A>C)
 ClinVar dbSNP
17g.31259030A>GCA398998666NF1c.121-2A>G (n.121-2A>G)
c.4315-2A>G (n.4315-2A>G)
n.439-2A>G
c.324-2A>G
n.978-2A>G
c.4363-2A>G (n.4363-2A>G)
n.305-2A>G
c.4333-2A>G (n.4333-2A>G)
c.4270-2A>G (n.4270-2A>G)
c.3268-2A>G (n.3268-2A>G)
c.849-2A>G
c.786-2A>G
n.2806-2A>G
c.4372-2A>G (n.4372-2A>G)
c.4324-2A>G (n.4324-2A>G)
c.4300-2A>G (n.4300-2A>G)
c.4360-2A>G (n.4360-2A>G)
 ClinVar dbSNP
17g.31259030A>TCA398998664NF1c.121-2A>T (n.121-2A>T)
c.4315-2A>T (n.4315-2A>T)
n.439-2A>T
c.324-2A>T
n.978-2A>T
c.4363-2A>T (n.4363-2A>T)
n.305-2A>T
c.4333-2A>T (n.4333-2A>T)
c.4270-2A>T (n.4270-2A>T)
c.3268-2A>T (n.3268-2A>T)
c.849-2A>T
c.786-2A>T
n.2806-2A>T
c.4372-2A>T (n.4372-2A>T)
c.4324-2A>T (n.4324-2A>T)
c.4300-2A>T (n.4300-2A>T)
c.4360-2A>T (n.4360-2A>T)
 dbSNP gnomAD v4
17g.31259030dupCA2580092986NF1c.121-2dup (n.121-2dup)
c.4315-2dup (n.4315-2dup)
n.439-2dup
c.324-2dup
n.978-2dup
c.4363-2dup (n.4363-2dup)
n.305-2dup
c.4333-2dup (n.4333-2dup)
c.4270-2dup (n.4270-2dup)
c.3268-2dup (n.3268-2dup)
c.849-2dup
c.786-2dup
n.2806-2dup
c.4372-2dup (n.4372-2dup)
c.4324-2dup (n.4324-2dup)
c.4300-2dup (n.4300-2dup)
c.4360-2dup (n.4360-2dup)
 ClinVar
17g.31259031G>ACA398998669NF1c.121-1G>A (n.121-1G>A)
c.4315-1G>A (n.4315-1G>A)
n.439-1G>A
c.324-1G>A
n.978-1G>A
c.4363-1G>A (n.4363-1G>A)
n.305-1G>A
c.4333-1G>A (n.4333-1G>A)
c.4270-1G>A (n.4270-1G>A)
c.3268-1G>A (n.3268-1G>A)
c.849-1G>A
c.786-1G>A
n.2806-1G>A
c.4372-1G>A (n.4372-1G>A)
c.4324-1G>A (n.4324-1G>A)
c.4300-1G>A (n.4300-1G>A)
c.4360-1G>A (n.4360-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.31259031G>CCA398998671NF1c.121-1G>C (n.121-1G>C)
c.4315-1G>C (n.4315-1G>C)
n.439-1G>C
c.324-1G>C
n.978-1G>C
c.4363-1G>C (n.4363-1G>C)
n.305-1G>C
c.4333-1G>C (n.4333-1G>C)
c.4270-1G>C (n.4270-1G>C)
c.3268-1G>C (n.3268-1G>C)
c.849-1G>C
c.786-1G>C
n.2806-1G>C
c.4372-1G>C (n.4372-1G>C)
c.4324-1G>C (n.4324-1G>C)
c.4300-1G>C (n.4300-1G>C)
c.4360-1G>C (n.4360-1G>C)
 ClinVar dbSNP
17g.31259031G=CA2255574204NF1c.121-1G= (n.121-1G=)
c.4315-1G= (n.4315-1G=)
n.439-1G=
c.324-1G=
n.978-1G=
c.4363-1G= (n.4363-1G=)
n.305-1G=
c.4333-1G= (n.4333-1G=)
c.4270-1G= (n.4270-1G=)
c.3268-1G= (n.3268-1G=)
c.849-1G=
c.786-1G=
n.2806-1G=
c.4372-1G= (n.4372-1G=)
c.4324-1G= (n.4324-1G=)
c.4300-1G= (n.4300-1G=)
c.4360-1G= (n.4360-1G=)
17g.31259031G>TCA398998672NF1c.121-1G>T (n.121-1G>T)
c.4315-1G>T (n.4315-1G>T)
n.439-1G>T
c.324-1G>T
n.978-1G>T
c.4363-1G>T (n.4363-1G>T)
n.305-1G>T
c.4333-1G>T (n.4333-1G>T)
c.4270-1G>T (n.4270-1G>T)
c.3268-1G>T (n.3268-1G>T)
c.849-1G>T
c.786-1G>T
n.2806-1G>T
c.4372-1G>T (n.4372-1G>T)
c.4324-1G>T (n.4324-1G>T)
c.4300-1G>T (n.4300-1G>T)
c.4360-1G>T (n.4360-1G>T)
 ClinVar dbSNP gnomAD v4
17g.31259031_31259032delinsGACA2255574207NF1c.121-1_121delinsGA
c.4315-1_4315delinsGA
n.439-1_439delinsGA
c.324-1_324delinsGA
n.978-1_978delinsGA
c.4363-1_4363delinsGA
n.305-1_305delinsGA
c.4333-1_4333delinsGA
c.4270-1_4270delinsGA
c.3268-1_3268delinsGA
c.849-1_849delinsGA
c.786-1_786delinsGA
n.2806-1_2806delinsGA
c.4372-1_4372delinsGA
c.4324-1_4324delinsGA
c.4300-1_4300delinsGA
c.4360-1_4360delinsGA
17g.31259032delCA915949646NF1c.121del (p.Ile41TyrfsTer24)
c.4315del (p.Ile1439TyrfsTer24)
n.439del
c.324del
n.978del
c.4363del (p.Ile1455TyrfsTer24)
n.305del
c.4333del (p.Ile1445TyrfsTer24)
c.4270del (p.Ile1424TyrfsTer24)
c.3268del (p.Ile1090TyrfsTer24)
c.849del
c.786del
n.2806del
c.4372del (p.Ile1458TyrfsTer24)
c.4324del (p.Ile1442TyrfsTer24)
c.4300del (p.Ile1434TyrfsTer24)
c.4360del (p.Ile1454TyrfsTer24)
 ClinVar dbSNP
17g.31259032A=CA2255574223NF1c.121A= (p.Ile41=)
c.4315A= (p.Ile1439=)
n.439A=
c.324A=
n.978A=
c.4363A= (p.Ile1455=)
n.305A=
c.4333A= (p.Ile1445=)
c.4270A= (p.Ile1424=)
c.3268A= (p.Ile1090=)
c.849A=
c.786A=
n.2806A=
c.4372A= (p.Ile1458=)
c.4324A= (p.Ile1442=)
c.4300A= (p.Ile1434=)
c.4360A= (p.Ile1454=)
17g.31259032A>CCA398998674NF1c.121A>C (p.Ile41Leu)
c.4315A>C (p.Ile1439Leu)
n.439A>C
c.324A>C
n.978A>C
c.4363A>C (p.Ile1455Leu)
n.305A>C
c.4333A>C (p.Ile1445Leu)
c.4270A>C (p.Ile1424Leu)
c.3268A>C (p.Ile1090Leu)
c.849A>C
c.786A>C
n.2806A>C
c.4372A>C (p.Ile1458Leu)
c.4324A>C (p.Ile1442Leu)
c.4300A>C (p.Ile1434Leu)
c.4360A>C (p.Ile1454Leu)
 ClinVar dbSNP
17g.31259032A>GCA398998676NF1c.121A>G (p.Ile41Val)
c.4315A>G (p.Ile1439Val)
n.439A>G
c.324A>G
n.978A>G
c.4363A>G (p.Ile1455Val)
n.305A>G
c.4333A>G (p.Ile1445Val)
c.4270A>G (p.Ile1424Val)
c.3268A>G (p.Ile1090Val)
c.849A>G
c.786A>G
n.2806A>G
c.4372A>G (p.Ile1458Val)
c.4324A>G (p.Ile1442Val)
c.4300A>G (p.Ile1434Val)
c.4360A>G (p.Ile1454Val)
 ClinVar gnomAD v4
17g.31259032A>TCA398998677NF1c.121A>T (p.Ile41Leu)
c.4315A>T (p.Ile1439Leu)
n.439A>T
c.324A>T
n.978A>T
c.4363A>T (p.Ile1455Leu)
n.305A>T
c.4333A>T (p.Ile1445Leu)
c.4270A>T (p.Ile1424Leu)
c.3268A>T (p.Ile1090Leu)
c.849A>T
c.786A>T
n.2806A>T
c.4372A>T (p.Ile1458Leu)
c.4324A>T (p.Ile1442Leu)
c.4300A>T (p.Ile1434Leu)
c.4360A>T (p.Ile1454Leu)
 ClinVar dbSNP
17g.31259032_31259036delCA645582453NF1c.121_125del (p.Ile41SerfsTer20)
c.4315_4319del (p.Ile1439SerfsTer20)
n.439_443del
c.324_328del
n.978_982del
c.4363_4367del (p.Ile1455SerfsTer20)
n.305_309del
c.4333_4337del (p.Ile1445SerfsTer20)
c.4270_4274del (p.Ile1424SerfsTer20)
c.3268_3272del (p.Ile1090SerfsTer20)
c.849_853del
c.786_790del
n.2806_2810del
c.4372_4376del (p.Ile1458SerfsTer20)
c.4324_4328del (p.Ile1442SerfsTer20)
c.4300_4304del (p.Ile1434SerfsTer20)
c.4360_4364del (p.Ile1454SerfsTer20)
 COSMIC COSMIC
17g.31259033T>ACA398998679NF1c.122T>A (p.Ile41Lys)
c.4316T>A (p.Ile1439Lys)
n.440T>A
c.325T>A
n.979T>A
c.4364T>A (p.Ile1455Lys)
n.306T>A
c.4334T>A (p.Ile1445Lys)
c.4271T>A (p.Ile1424Lys)
c.3269T>A (p.Ile1090Lys)
c.850T>A
c.787T>A
n.2807T>A
c.4373T>A (p.Ile1458Lys)
c.4325T>A (p.Ile1442Lys)
c.4301T>A (p.Ile1434Lys)
c.4361T>A (p.Ile1454Lys)
 dbSNP
17g.31259033T>CCA398998681NF1c.122T>C (p.Ile41Thr)
c.4316T>C (p.Ile1439Thr)
n.440T>C
c.325T>C
n.979T>C
c.4364T>C (p.Ile1455Thr)
n.306T>C
c.4334T>C (p.Ile1445Thr)
c.4271T>C (p.Ile1424Thr)
c.3269T>C (p.Ile1090Thr)
c.850T>C
c.787T>C
n.2807T>C
c.4373T>C (p.Ile1458Thr)
c.4325T>C (p.Ile1442Thr)
c.4301T>C (p.Ile1434Thr)
c.4361T>C (p.Ile1454Thr)
 ClinVar
17g.31259033T>GCA398998682NF1c.122T>G (p.Ile41Arg)
c.4316T>G (p.Ile1439Arg)
n.440T>G
c.325T>G
n.979T>G
c.4364T>G (p.Ile1455Arg)
n.306T>G
c.4334T>G (p.Ile1445Arg)
c.4271T>G (p.Ile1424Arg)
c.3269T>G (p.Ile1090Arg)
c.850T>G
c.787T>G
n.2807T>G
c.4373T>G (p.Ile1458Arg)
c.4325T>G (p.Ile1442Arg)
c.4301T>G (p.Ile1434Arg)
c.4361T>G (p.Ile1454Arg)
 ClinVar dbSNP
17g.31259033T=CA2255574235NF1c.122T= (p.Ile41=)
c.4316T= (p.Ile1439=)
n.440T=
c.325T=
n.979T=
c.4364T= (p.Ile1455=)
n.306T=
c.4334T= (p.Ile1445=)
c.4271T= (p.Ile1424=)
c.3269T= (p.Ile1090=)
c.850T=
c.787T=
n.2807T=
c.4373T= (p.Ile1458=)
c.4325T= (p.Ile1442=)
c.4301T= (p.Ile1434=)
c.4361T= (p.Ile1454=)
17g.31259033dupCA2573153622NF1c.122dup (p.Leu42ThrfsTer21)
c.4316dup (p.Leu1440ThrfsTer21)
n.440dup
c.325dup
n.979dup
c.4364dup (p.Leu1456ThrfsTer21)
n.306dup
c.4334dup (p.Leu1446ThrfsTer21)
c.4271dup (p.Leu1425ThrfsTer21)
c.3269dup (p.Leu1091ThrfsTer21)
c.850dup
c.787dup
n.2807dup
c.4373dup (p.Leu1459ThrfsTer21)
c.4325dup (p.Leu1443ThrfsTer21)
c.4301dup (p.Leu1435ThrfsTer21)
c.4361dup (p.Leu1455ThrfsTer21)
 ClinVar dbSNP
17g.31259034A>CCA499233575NF1c.123A>C (p.Ile41=)
c.4317A>C (p.Ile1439=)
n.441A>C
c.326A>C
n.980A>C
c.4365A>C (p.Ile1455=)
n.307A>C
c.4335A>C (p.Ile1445=)
c.4272A>C (p.Ile1424=)
c.3270A>C (p.Ile1090=)
c.851A>C
c.788A>C
n.2808A>C
c.4374A>C (p.Ile1458=)
c.4326A>C (p.Ile1442=)
c.4302A>C (p.Ile1434=)
c.4362A>C (p.Ile1454=)
17g.31259034A>GCA398998684NF1c.123A>G (p.Ile41Met)
c.4317A>G (p.Ile1439Met)
n.441A>G
c.326A>G
n.980A>G
c.4365A>G (p.Ile1455Met)
n.307A>G
c.4335A>G (p.Ile1445Met)
c.4272A>G (p.Ile1424Met)
c.3270A>G (p.Ile1090Met)
c.851A>G
c.788A>G
n.2808A>G
c.4374A>G (p.Ile1458Met)
c.4326A>G (p.Ile1442Met)
c.4302A>G (p.Ile1434Met)
c.4362A>G (p.Ile1454Met)
17g.31259034A>TCA499233576NF1c.123A>T (p.Ile41=)
c.4317A>T (p.Ile1439=)
n.441A>T
c.326A>T
n.980A>T
c.4365A>T (p.Ile1455=)
n.307A>T
c.4335A>T (p.Ile1445=)
c.4272A>T (p.Ile1424=)
c.3270A>T (p.Ile1090=)
c.851A>T
c.788A>T
n.2808A>T
c.4374A>T (p.Ile1458=)
c.4326A>T (p.Ile1442=)
c.4302A>T (p.Ile1434=)
c.4362A>T (p.Ile1454=)
 dbSNP
17g.31259035delCA658761100NF1c.124del (p.Leu42PhefsTer23)
c.4318del (p.Leu1440PhefsTer23)
n.442del
c.327del
n.981del
c.4366del (p.Leu1456PhefsTer23)
n.308del
c.4336del (p.Leu1446PhefsTer23)
c.4273del (p.Leu1425PhefsTer23)
c.3271del (p.Leu1091PhefsTer23)
c.852del
c.789del
n.2809del
c.4375del (p.Leu1459PhefsTer23)
c.4327del (p.Leu1443PhefsTer23)
c.4303del (p.Leu1435PhefsTer23)
c.4363del (p.Leu1455PhefsTer23)
17g.31259035C>ACA398998685NF1c.124C>A (p.Leu42Ile)
c.4318C>A (p.Leu1440Ile)
n.442C>A
c.327C>A
n.981C>A
c.4366C>A (p.Leu1456Ile)
n.308C>A
c.4336C>A (p.Leu1446Ile)
c.4273C>A (p.Leu1425Ile)
c.3271C>A (p.Leu1091Ile)
c.852C>A
c.789C>A
n.2809C>A
c.4375C>A (p.Leu1459Ile)
c.4327C>A (p.Leu1443Ile)
c.4303C>A (p.Leu1435Ile)
c.4363C>A (p.Leu1455Ile)
 gnomAD v4
17g.31259035C=CA2255574240NF1c.124C= (p.Leu42=)
c.4318C= (p.Leu1440=)
n.442C=
c.327C=
n.981C=
c.4366C= (p.Leu1456=)
n.308C=
c.4336C= (p.Leu1446=)
c.4273C= (p.Leu1425=)
c.3271C= (p.Leu1091=)
c.852C=
c.789C=
n.2809C=
c.4375C= (p.Leu1459=)
c.4327C= (p.Leu1443=)
c.4303C= (p.Leu1435=)
c.4363C= (p.Leu1455=)
17g.31259035C>GCA398998687NF1c.124C>G (p.Leu42Val)
c.4318C>G (p.Leu1440Val)
n.442C>G
c.327C>G
n.981C>G
c.4366C>G (p.Leu1456Val)
n.308C>G
c.4336C>G (p.Leu1446Val)
c.4273C>G (p.Leu1425Val)
c.3271C>G (p.Leu1091Val)
c.852C>G
c.789C>G
n.2809C>G
c.4375C>G (p.Leu1459Val)
c.4327C>G (p.Leu1443Val)
c.4303C>G (p.Leu1435Val)
c.4363C>G (p.Leu1455Val)
 ClinVar dbSNP
17g.31259035C>TCA398998689NF1c.124C>T (p.Leu42Phe)
c.4318C>T (p.Leu1440Phe)
n.442C>T
c.327C>T
n.981C>T
c.4366C>T (p.Leu1456Phe)
n.308C>T
c.4336C>T (p.Leu1446Phe)
c.4273C>T (p.Leu1425Phe)
c.3271C>T (p.Leu1091Phe)
c.852C>T
c.789C>T
n.2809C>T
c.4375C>T (p.Leu1459Phe)
c.4327C>T (p.Leu1443Phe)
c.4303C>T (p.Leu1435Phe)
c.4363C>T (p.Leu1455Phe)
 ClinVar dbSNP
17g.31259035_31259036delinsCTCA2255574243NF1c.124_125delinsCT (p.Leu42=)
c.4318_4319delinsCT (p.Leu1440=)
n.442_443delinsCT
c.327_328delinsCT
n.981_982delinsCT
c.4366_4367delinsCT (p.Leu1456=)
n.308_309delinsCT
c.4336_4337delinsCT (p.Leu1446=)
c.4273_4274delinsCT (p.Leu1425=)
c.3271_3272delinsCT (p.Leu1091=)
c.852_853delinsCT
c.789_790delinsCT
n.2809_2810delinsCT
c.4375_4376delinsCT (p.Leu1459=)
c.4327_4328delinsCT (p.Leu1443=)
c.4303_4304delinsCT (p.Leu1435=)
c.4363_4364delinsCT (p.Leu1455=)
17g.31259036T>ACA398998691NF1c.125T>A (p.Leu42His)
c.4319T>A (p.Leu1440His)
n.443T>A
c.328T>A
n.982T>A
c.4367T>A (p.Leu1456His)
n.309T>A
c.4337T>A (p.Leu1446His)
c.4274T>A (p.Leu1425His)
c.3272T>A (p.Leu1091His)
c.853T>A
c.790T>A
n.2810T>A
c.4376T>A (p.Leu1459His)
c.4328T>A (p.Leu1443His)
c.4304T>A (p.Leu1435His)
c.4364T>A (p.Leu1455His)
17g.31259036T>CCA219566NF1c.125T>C (p.Leu42Pro)
c.4319T>C (p.Leu1440Pro)
n.443T>C
c.328T>C
n.982T>C
c.4367T>C (p.Leu1456Pro)
n.309T>C
c.4337T>C (p.Leu1446Pro)
c.4274T>C (p.Leu1425Pro)
c.3272T>C (p.Leu1091Pro)
c.853T>C
c.790T>C
n.2810T>C
c.4376T>C (p.Leu1459Pro)
c.4328T>C (p.Leu1443Pro)
c.4304T>C (p.Leu1435Pro)
c.4364T>C (p.Leu1455Pro)
 ClinVar dbSNP
17g.31259036T>GCA398998690NF1c.125T>G (p.Leu42Arg)
c.4319T>G (p.Leu1440Arg)
n.443T>G
c.328T>G
n.982T>G
c.4367T>G (p.Leu1456Arg)
n.309T>G
c.4337T>G (p.Leu1446Arg)
c.4274T>G (p.Leu1425Arg)
c.3272T>G (p.Leu1091Arg)
c.853T>G
c.790T>G
n.2810T>G
c.4376T>G (p.Leu1459Arg)
c.4328T>G (p.Leu1443Arg)
c.4304T>G (p.Leu1435Arg)
c.4364T>G (p.Leu1455Arg)
 ClinVar
17g.31259036T=CA2255574252NF1c.125T= (p.Leu42=)
c.4319T= (p.Leu1440=)
n.443T=
c.328T=
n.982T=
c.4367T= (p.Leu1456=)
n.309T=
c.4337T= (p.Leu1446=)
c.4274T= (p.Leu1425=)
c.3272T= (p.Leu1091=)
c.853T=
c.790T=
n.2810T=
c.4376T= (p.Leu1459=)
c.4328T= (p.Leu1443=)
c.4304T= (p.Leu1435=)
c.4364T= (p.Leu1455=)
17g.31259037delCA1139665371NF1c.126del (p.Gln43ArgfsTer22)
c.4320del (p.Gln1441ArgfsTer22)
n.444del
c.329del
n.983del
c.4368del (p.Gln1457ArgfsTer22)
n.310del
c.4338del (p.Gln1447ArgfsTer22)
c.4275del (p.Gln1426ArgfsTer22)
c.3273del (p.Gln1092ArgfsTer22)
c.854del
c.791del
n.2811del
c.4377del (p.Gln1460ArgfsTer22)
c.4329del (p.Gln1444ArgfsTer22)
c.4305del (p.Gln1436ArgfsTer22)
c.4365del (p.Gln1456ArgfsTer22)
 ClinVar dbSNP
17g.31259037T>ACA499233578NF1c.126T>A (p.Leu42=)
c.4320T>A (p.Leu1440=)
n.444T>A
c.329T>A
n.983T>A
c.4368T>A (p.Leu1456=)
n.310T>A
c.4338T>A (p.Leu1446=)
c.4275T>A (p.Leu1425=)
c.3273T>A (p.Leu1091=)
c.854T>A
c.791T>A
n.2811T>A
c.4377T>A (p.Leu1459=)
c.4329T>A (p.Leu1443=)
c.4305T>A (p.Leu1435=)
c.4365T>A (p.Leu1455=)
 gnomAD v4
17g.31259037T>CCA499233577NF1c.126T>C (p.Leu42=)
c.4320T>C (p.Leu1440=)
n.444T>C
c.329T>C
n.983T>C
c.4368T>C (p.Leu1456=)
n.310T>C
c.4338T>C (p.Leu1446=)
c.4275T>C (p.Leu1425=)
c.3273T>C (p.Leu1091=)
c.854T>C
c.791T>C
n.2811T>C
c.4377T>C (p.Leu1459=)
c.4329T>C (p.Leu1443=)
c.4305T>C (p.Leu1435=)
c.4365T>C (p.Leu1455=)
 dbSNP gnomAD v4
17g.31259037T>GCA499233579NF1c.126T>G (p.Leu42=)
c.4320T>G (p.Leu1440=)
n.444T>G
c.329T>G
n.983T>G
c.4368T>G (p.Leu1456=)
n.310T>G
c.4338T>G (p.Leu1446=)
c.4275T>G (p.Leu1425=)
c.3273T>G (p.Leu1091=)
c.854T>G
c.791T>G
n.2811T>G
c.4377T>G (p.Leu1459=)
c.4329T>G (p.Leu1443=)
c.4305T>G (p.Leu1435=)
c.4365T>G (p.Leu1455=)
 ClinVar dbSNP
17g.31259037T=CA2255574259NF1c.126T= (p.Leu42=)
c.4320T= (p.Leu1440=)
n.444T=
c.329T=
n.983T=
c.4368T= (p.Leu1456=)
n.310T=
c.4338T= (p.Leu1446=)
c.4275T= (p.Leu1425=)
c.3273T= (p.Leu1091=)
c.854T=
c.791T=
n.2811T=
c.4377T= (p.Leu1459=)
c.4329T= (p.Leu1443=)
c.4305T= (p.Leu1435=)
c.4365T= (p.Leu1455=)
17g.31259038C>ACA398998693NF1c.127C>A (p.Gln43Lys)
c.4321C>A (p.Gln1441Lys)
n.445C>A
c.330C>A
n.984C>A
c.4369C>A (p.Gln1457Lys)
n.311C>A
c.4339C>A (p.Gln1447Lys)
c.4276C>A (p.Gln1426Lys)
c.3274C>A (p.Gln1092Lys)
c.855C>A
c.792C>A
n.2812C>A
c.4378C>A (p.Gln1460Lys)
c.4330C>A (p.Gln1444Lys)
c.4306C>A (p.Gln1436Lys)
c.4366C>A (p.Gln1456Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.31259038C=CA2255574266NF1c.127C= (p.Gln43=)
c.4321C= (p.Gln1441=)
n.445C=
c.330C=
n.984C=
c.4369C= (p.Gln1457=)
n.311C=
c.4339C= (p.Gln1447=)
c.4276C= (p.Gln1426=)
c.3274C= (p.Gln1092=)
c.855C=
c.792C=
n.2812C=
c.4378C= (p.Gln1460=)
c.4330C= (p.Gln1444=)
c.4306C= (p.Gln1436=)
c.4366C= (p.Gln1456=)
17g.31259038C>GCA398998695NF1c.127C>G (p.Gln43Glu)
c.4321C>G (p.Gln1441Glu)
n.445C>G
c.330C>G
n.984C>G
c.4369C>G (p.Gln1457Glu)
n.311C>G
c.4339C>G (p.Gln1447Glu)
c.4276C>G (p.Gln1426Glu)
c.3274C>G (p.Gln1092Glu)
c.855C>G
c.792C>G
n.2812C>G
c.4378C>G (p.Gln1460Glu)
c.4330C>G (p.Gln1444Glu)
c.4306C>G (p.Gln1436Glu)
c.4366C>G (p.Gln1456Glu)
 ClinVar dbSNP
17g.31259038C>TCA398998696NF1c.127C>T (p.Gln43Ter)
c.4321C>T (p.Gln1441Ter)
n.445C>T
c.330C>T
n.984C>T
c.4369C>T (p.Gln1457Ter)
n.311C>T
c.4339C>T (p.Gln1447Ter)
c.4276C>T (p.Gln1426Ter)
c.3274C>T (p.Gln1092Ter)
c.855C>T
c.792C>T
n.2812C>T
c.4378C>T (p.Gln1460Ter)
c.4330C>T (p.Gln1444Ter)
c.4306C>T (p.Gln1436Ter)
c.4366C>T (p.Gln1456Ter)
 ClinVar dbSNP
17g.31259039A=CA2255574286NF1c.128A= (p.Gln43=)
c.4322A= (p.Gln1441=)
n.446A=
c.331A=
n.985A=
c.4370A= (p.Gln1457=)
n.312A=
c.4340A= (p.Gln1447=)
c.4277A= (p.Gln1426=)
c.3275A= (p.Gln1092=)
c.856A=
c.793A=
n.2813A=
c.4379A= (p.Gln1460=)
c.4331A= (p.Gln1444=)
c.4307A= (p.Gln1436=)
c.4367A= (p.Gln1456=)
17g.31259039A>CCA398998698NF1c.128A>C (p.Gln43Pro)
c.4322A>C (p.Gln1441Pro)
n.446A>C
c.331A>C
n.985A>C
c.4370A>C (p.Gln1457Pro)
n.312A>C
c.4340A>C (p.Gln1447Pro)
c.4277A>C (p.Gln1426Pro)
c.3275A>C (p.Gln1092Pro)
c.856A>C
c.793A>C
n.2813A>C
c.4379A>C (p.Gln1460Pro)
c.4331A>C (p.Gln1444Pro)
c.4307A>C (p.Gln1436Pro)
c.4367A>C (p.Gln1456Pro)
 ClinVar dbSNP
17g.31259039A>GCA334363NF1c.128A>G (p.Gln43Arg)
c.4322A>G (p.Gln1441Arg)
n.446A>G
c.331A>G
n.985A>G
c.4370A>G (p.Gln1457Arg)
n.312A>G
c.4340A>G (p.Gln1447Arg)
c.4277A>G (p.Gln1426Arg)
c.3275A>G (p.Gln1092Arg)
c.856A>G
c.793A>G
n.2813A>G
c.4379A>G (p.Gln1460Arg)
c.4331A>G (p.Gln1444Arg)
c.4307A>G (p.Gln1436Arg)
c.4367A>G (p.Gln1456Arg)
 ClinVar dbSNP
17g.31259039A>TCA398998700NF1c.128A>T (p.Gln43Leu)
c.4322A>T (p.Gln1441Leu)
n.446A>T
c.331A>T
n.985A>T
c.4370A>T (p.Gln1457Leu)
n.312A>T
c.4340A>T (p.Gln1447Leu)
c.4277A>T (p.Gln1426Leu)
c.3275A>T (p.Gln1092Leu)
c.856A>T
c.793A>T
n.2813A>T
c.4379A>T (p.Gln1460Leu)
c.4331A>T (p.Gln1444Leu)
c.4307A>T (p.Gln1436Leu)
c.4367A>T (p.Gln1456Leu)
 gnomAD v4
17g.31259039_31259040delinsAGCA2255574284NF1c.128_129delinsAG (p.Gln43=)
c.4322_4323delinsAG (p.Gln1441=)
n.446_447delinsAG
c.331_332delinsAG
n.985_986delinsAG
c.4370_4371delinsAG (p.Gln1457=)
n.312_313delinsAG
c.4340_4341delinsAG (p.Gln1447=)
c.4277_4278delinsAG (p.Gln1426=)
c.3275_3276delinsAG (p.Gln1092=)
c.856_857delinsAG
c.793_794delinsAG
n.2813_2814delinsAG
c.4379_4380delinsAG (p.Gln1460=)
c.4331_4332delinsAG (p.Gln1444=)
c.4307_4308delinsAG (p.Gln1436=)
c.4367_4368delinsAG (p.Gln1456=)
17g.31259039_31259040delinsCACA916080602NF1c.128_129delinsCA (p.Gln43Pro)
c.4322_4323delinsCA (p.Gln1441Pro)
n.446_447delinsCA
c.331_332delinsCA
n.985_986delinsCA
c.4370_4371delinsCA (p.Gln1457Pro)
n.312_313delinsCA
c.4340_4341delinsCA (p.Gln1447Pro)
c.4277_4278delinsCA (p.Gln1426Pro)
c.3275_3276delinsCA (p.Gln1092Pro)
c.856_857delinsCA
c.793_794delinsCA
n.2813_2814delinsCA
c.4379_4380delinsCA (p.Gln1460Pro)
c.4331_4332delinsCA (p.Gln1444Pro)
c.4307_4308delinsCA (p.Gln1436Pro)
c.4367_4368delinsCA (p.Gln1456Pro)
 ClinVar dbSNP
17g.31259040delCA658761101NF1c.129del (p.Ser44ValfsTer21)
c.4323del (p.Ser1442ValfsTer21)
n.447del
c.332del
n.986del
c.4371del (p.Ser1458ValfsTer21)
n.313del
c.4341del (p.Ser1448ValfsTer21)
c.4278del (p.Ser1427ValfsTer21)
c.3276del (p.Ser1093ValfsTer21)
c.857del
c.794del
n.2814del
c.4380del (p.Ser1461ValfsTer21)
c.4332del (p.Ser1445ValfsTer21)
c.4308del (p.Ser1437ValfsTer21)
c.4368del (p.Ser1457ValfsTer21)
17g.31259040G>ACA499233580NF1c.129G>A (p.Gln43=)
c.4323G>A (p.Gln1441=)
n.447G>A
c.332G>A
n.986G>A
c.4371G>A (p.Gln1457=)
n.313G>A
c.4341G>A (p.Gln1447=)
c.4278G>A (p.Gln1426=)
c.3276G>A (p.Gln1092=)
c.857G>A
c.794G>A
n.2814G>A
c.4380G>A (p.Gln1460=)
c.4332G>A (p.Gln1444=)
c.4308G>A (p.Gln1436=)
c.4368G>A (p.Gln1456=)
17g.31259040G>CCA10580310NF1c.129G>C (p.Gln43His)
c.4323G>C (p.Gln1441His)
n.447G>C
c.332G>C
n.986G>C
c.4371G>C (p.Gln1457His)
n.313G>C
c.4341G>C (p.Gln1447His)
c.4278G>C (p.Gln1426His)
c.3276G>C (p.Gln1092His)
c.857G>C
c.794G>C
n.2814G>C
c.4380G>C (p.Gln1460His)
c.4332G>C (p.Gln1444His)
c.4308G>C (p.Gln1436His)
c.4368G>C (p.Gln1456His)
 ClinVar dbSNP COSMIC COSMIC
17g.31259040G=CA2255574302NF1c.129G= (p.Gln43=)
c.4323G= (p.Gln1441=)
n.447G=
c.332G=
n.986G=
c.4371G= (p.Gln1457=)
n.313G=
c.4341G= (p.Gln1447=)
c.4278G= (p.Gln1426=)
c.3276G= (p.Gln1092=)
c.857G=
c.794G=
n.2814G=
c.4380G= (p.Gln1460=)
c.4332G= (p.Gln1444=)
c.4308G= (p.Gln1436=)
c.4368G= (p.Gln1456=)
17g.31259040G>TCA398998703NF1c.129G>T (p.Gln43His)
c.4323G>T (p.Gln1441His)
n.447G>T
c.332G>T
n.986G>T
c.4371G>T (p.Gln1457His)
n.313G>T
c.4341G>T (p.Gln1447His)
c.4278G>T (p.Gln1426His)
c.3276G>T (p.Gln1092His)
c.857G>T
c.794G>T
n.2814G>T
c.4380G>T (p.Gln1460His)
c.4332G>T (p.Gln1444His)
c.4308G>T (p.Gln1436His)
c.4368G>T (p.Gln1456His)
17g.31259041A>CCA398998704NF1c.130A>C (p.Ser44Arg)
c.4324A>C (p.Ser1442Arg)
n.448A>C
c.333A>C
n.987A>C
c.4372A>C (p.Ser1458Arg)
n.314A>C
c.4342A>C (p.Ser1448Arg)
c.4279A>C (p.Ser1427Arg)
c.3277A>C (p.Ser1093Arg)
c.858A>C
c.795A>C
n.2815A>C
c.4381A>C (p.Ser1461Arg)
c.4333A>C (p.Ser1445Arg)
c.4309A>C (p.Ser1437Arg)
c.4369A>C (p.Ser1457Arg)
17g.31259041A>GCA398998705NF1c.130A>G (p.Ser44Gly)
c.4324A>G (p.Ser1442Gly)
n.448A>G
c.333A>G
n.987A>G
c.4372A>G (p.Ser1458Gly)
n.314A>G
c.4342A>G (p.Ser1448Gly)
c.4279A>G (p.Ser1427Gly)
c.3277A>G (p.Ser1093Gly)
c.858A>G
c.795A>G
n.2815A>G
c.4381A>G (p.Ser1461Gly)
c.4333A>G (p.Ser1445Gly)
c.4309A>G (p.Ser1437Gly)
c.4369A>G (p.Ser1457Gly)
17g.31259041A>TCA398998707NF1c.130A>T (p.Ser44Cys)
c.4324A>T (p.Ser1442Cys)
n.448A>T
c.333A>T
n.987A>T
c.4372A>T (p.Ser1458Cys)
n.314A>T
c.4342A>T (p.Ser1448Cys)
c.4279A>T (p.Ser1427Cys)
c.3277A>T (p.Ser1093Cys)
c.858A>T
c.795A>T
n.2815A>T
c.4381A>T (p.Ser1461Cys)
c.4333A>T (p.Ser1445Cys)
c.4309A>T (p.Ser1437Cys)
c.4369A>T (p.Ser1457Cys)
 dbSNP
17g.31259042delCA2580093000NF1c.131del (p.Ser44IlefsTer21)
c.4325del (p.Ser1442IlefsTer21)
n.449del
c.334del
n.988del
c.4373del (p.Ser1458IlefsTer21)
n.315del
c.4343del (p.Ser1448IlefsTer21)
c.4280del (p.Ser1427IlefsTer21)
c.3278del (p.Ser1093IlefsTer21)
c.859del
c.796del
n.2816del
c.4382del (p.Ser1461IlefsTer21)
c.4334del (p.Ser1445IlefsTer21)
c.4310del (p.Ser1437IlefsTer21)
c.4370del (p.Ser1457IlefsTer21)
 ClinVar
17g.31259042G>ACA398998709NF1c.131G>A (p.Ser44Asn)
c.4325G>A (p.Ser1442Asn)
n.449G>A
c.334G>A
n.988G>A
c.4373G>A (p.Ser1458Asn)
n.315G>A
c.4343G>A (p.Ser1448Asn)
c.4280G>A (p.Ser1427Asn)
c.3278G>A (p.Ser1093Asn)
c.859G>A
c.796G>A
n.2816G>A
c.4382G>A (p.Ser1461Asn)
c.4334G>A (p.Ser1445Asn)
c.4310G>A (p.Ser1437Asn)
c.4370G>A (p.Ser1457Asn)
 dbSNP gnomAD v4
17g.31259042G>CCA398998710NF1c.131G>C (p.Ser44Thr)
c.4325G>C (p.Ser1442Thr)
n.449G>C
c.334G>C
n.988G>C
c.4373G>C (p.Ser1458Thr)
n.315G>C
c.4343G>C (p.Ser1448Thr)
c.4280G>C (p.Ser1427Thr)
c.3278G>C (p.Ser1093Thr)
c.859G>C
c.796G>C
n.2816G>C
c.4382G>C (p.Ser1461Thr)
c.4334G>C (p.Ser1445Thr)
c.4310G>C (p.Ser1437Thr)
c.4370G>C (p.Ser1457Thr)
 dbSNP
17g.31259042G=CA2255574305NF1c.131G= (p.Ser44=)
c.4325G= (p.Ser1442=)
n.449G=
c.334G=
n.988G=
c.4373G= (p.Ser1458=)
n.315G=
c.4343G= (p.Ser1448=)
c.4280G= (p.Ser1427=)
c.3278G= (p.Ser1093=)
c.859G=
c.796G=
n.2816G=
c.4382G= (p.Ser1461=)
c.4334G= (p.Ser1445=)
c.4310G= (p.Ser1437=)
c.4370G= (p.Ser1457=)
17g.31259042G>TCA398998712NF1c.131G>T (p.Ser44Ile)
c.4325G>T (p.Ser1442Ile)
n.449G>T
c.334G>T
n.988G>T
c.4373G>T (p.Ser1458Ile)
n.315G>T
c.4343G>T (p.Ser1448Ile)
c.4280G>T (p.Ser1427Ile)
c.3278G>T (p.Ser1093Ile)
c.859G>T
c.796G>T
n.2816G>T
c.4382G>T (p.Ser1461Ile)
c.4334G>T (p.Ser1445Ile)
c.4310G>T (p.Ser1437Ile)
c.4370G>T (p.Ser1457Ile)
17g.31259043T>ACA398998715NF1c.132T>A (p.Ser44Arg)
c.4326T>A (p.Ser1442Arg)
n.450T>A
c.335T>A
n.989T>A
c.4374T>A (p.Ser1458Arg)
n.316T>A
c.4344T>A (p.Ser1448Arg)
c.4281T>A (p.Ser1427Arg)
c.3279T>A (p.Ser1093Arg)
c.860T>A
c.797T>A
n.2817T>A
c.4383T>A (p.Ser1461Arg)
c.4335T>A (p.Ser1445Arg)
c.4311T>A (p.Ser1437Arg)
c.4371T>A (p.Ser1457Arg)
 dbSNP
17g.31259043T>CCA499233581NF1c.132T>C (p.Ser44=)
c.4326T>C (p.Ser1442=)
n.450T>C
c.335T>C
n.989T>C
c.4374T>C (p.Ser1458=)
n.316T>C
c.4344T>C (p.Ser1448=)
c.4281T>C (p.Ser1427=)
c.3279T>C (p.Ser1093=)
c.860T>C
c.797T>C
n.2817T>C
c.4383T>C (p.Ser1461=)
c.4335T>C (p.Ser1445=)
c.4311T>C (p.Ser1437=)
c.4371T>C (p.Ser1457=)
 ClinVar dbSNP
17g.31259043T>GCA398998713NF1c.132T>G (p.Ser44Arg)
c.4326T>G (p.Ser1442Arg)
n.450T>G
c.335T>G
n.989T>G
c.4374T>G (p.Ser1458Arg)
n.316T>G
c.4344T>G (p.Ser1448Arg)
c.4281T>G (p.Ser1427Arg)
c.3279T>G (p.Ser1093Arg)
c.860T>G
c.797T>G
n.2817T>G
c.4383T>G (p.Ser1461Arg)
c.4335T>G (p.Ser1445Arg)
c.4311T>G (p.Ser1437Arg)
c.4371T>G (p.Ser1457Arg)
 ClinVar dbSNP
17g.31259043T=CA2255574315NF1c.132T= (p.Ser44=)
c.4326T= (p.Ser1442=)
n.450T=
c.335T=
n.989T=
c.4374T= (p.Ser1458=)
n.316T=
c.4344T= (p.Ser1448=)
c.4281T= (p.Ser1427=)
c.3279T= (p.Ser1093=)
c.860T=
c.797T=
n.2817T=
c.4383T= (p.Ser1461=)
c.4335T= (p.Ser1445=)
c.4311T= (p.Ser1437=)
c.4371T= (p.Ser1457=)
17g.31259043_31259044insCCTCA915949647NF1c.132_133insCCT (p.Ser44_Ile45insPro)
c.4326_4327insCCT (p.Ser1442_Ile1443insPro)
n.450_451insCCT
c.335_336insCCT
n.989_990insCCT
c.4374_4375insCCT (p.Ser1458_Ile1459insPro)
n.316_317insCCT
c.4344_4345insCCT (p.Ser1448_Ile1449insPro)
c.4281_4282insCCT (p.Ser1427_Ile1428insPro)
c.3279_3280insCCT (p.Ser1093_Ile1094insPro)
c.860_861insCCT
c.797_798insCCT
n.2817_2818insCCT
c.4383_4384insCCT (p.Ser1461_Ile1462insPro)
c.4335_4336insCCT (p.Ser1445_Ile1446insPro)
c.4311_4312insCCT (p.Ser1437_Ile1438insPro)
c.4371_4372insCCT (p.Ser1457_Ile1458insPro)
 ClinVar dbSNP
17g.31259043dupCA2695225672NF1c.132dup (p.Ile45TyrfsTer18)
c.4326dup (p.Ile1443TyrfsTer18)
n.450dup
c.335dup
n.989dup
c.4374dup (p.Ile1459TyrfsTer18)
n.316dup
c.4344dup (p.Ile1449TyrfsTer18)
c.4281dup (p.Ile1428TyrfsTer18)
c.3279dup (p.Ile1094TyrfsTer18)
c.860dup
c.797dup
n.2817dup
c.4383dup (p.Ile1462TyrfsTer18)
c.4335dup (p.Ile1446TyrfsTer18)
c.4311dup (p.Ile1438TyrfsTer18)
c.4371dup (p.Ile1458TyrfsTer18)
17g.31259044A>CCA398998716NF1c.133A>C (p.Ile45Leu)
c.4327A>C (p.Ile1443Leu)
n.451A>C
c.336A>C
n.990A>C
c.4375A>C (p.Ile1459Leu)
n.317A>C
c.4345A>C (p.Ile1449Leu)
c.4282A>C (p.Ile1428Leu)
c.3280A>C (p.Ile1094Leu)
c.861A>C
c.798A>C
n.2818A>C
c.4384A>C (p.Ile1462Leu)
c.4336A>C (p.Ile1446Leu)
c.4312A>C (p.Ile1438Leu)
c.4372A>C (p.Ile1458Leu)
17g.31259044A>GCA398998718NF1c.133A>G (p.Ile45Val)
c.4327A>G (p.Ile1443Val)
n.451A>G
c.336A>G
n.990A>G
c.4375A>G (p.Ile1459Val)
n.317A>G
c.4345A>G (p.Ile1449Val)
c.4282A>G (p.Ile1428Val)
c.3280A>G (p.Ile1094Val)
c.861A>G
c.798A>G
n.2818A>G
c.4384A>G (p.Ile1462Val)
c.4336A>G (p.Ile1446Val)
c.4312A>G (p.Ile1438Val)
c.4372A>G (p.Ile1458Val)
17g.31259044A>TCA398998720NF1c.133A>T (p.Ile45Phe)
c.4327A>T (p.Ile1443Phe)
n.451A>T
c.336A>T
n.990A>T
c.4375A>T (p.Ile1459Phe)
n.317A>T
c.4345A>T (p.Ile1449Phe)
c.4282A>T (p.Ile1428Phe)
c.3280A>T (p.Ile1094Phe)
c.861A>T
c.798A>T
n.2818A>T
c.4384A>T (p.Ile1462Phe)
c.4336A>T (p.Ile1446Phe)
c.4312A>T (p.Ile1438Phe)
c.4372A>T (p.Ile1458Phe)
 dbSNP gnomAD v4
17g.31259045T>ACA398998721NF1c.134T>A (p.Ile45Asn)
c.4328T>A (p.Ile1443Asn)
n.452T>A
c.337T>A
n.991T>A
c.4376T>A (p.Ile1459Asn)
n.318T>A
c.4346T>A (p.Ile1449Asn)
c.4283T>A (p.Ile1428Asn)
c.3281T>A (p.Ile1094Asn)
c.862T>A
c.799T>A
n.2819T>A
c.4385T>A (p.Ile1462Asn)
c.4337T>A (p.Ile1446Asn)
c.4313T>A (p.Ile1438Asn)
c.4373T>A (p.Ile1458Asn)
17g.31259045T>CCA398998723NF1c.134T>C (p.Ile45Thr)
c.4328T>C (p.Ile1443Thr)
n.452T>C
c.337T>C
n.991T>C
c.4376T>C (p.Ile1459Thr)
n.318T>C
c.4346T>C (p.Ile1449Thr)
c.4283T>C (p.Ile1428Thr)
c.3281T>C (p.Ile1094Thr)
c.862T>C
c.799T>C
n.2819T>C
c.4385T>C (p.Ile1462Thr)
c.4337T>C (p.Ile1446Thr)
c.4313T>C (p.Ile1438Thr)
c.4373T>C (p.Ile1458Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31259045T>GCA398998724NF1c.134T>G (p.Ile45Ser)
c.4328T>G (p.Ile1443Ser)
n.452T>G
c.337T>G
n.991T>G
c.4376T>G (p.Ile1459Ser)
n.318T>G
c.4346T>G (p.Ile1449Ser)
c.4283T>G (p.Ile1428Ser)
c.3281T>G (p.Ile1094Ser)
c.862T>G
c.799T>G
n.2819T>G
c.4385T>G (p.Ile1462Ser)
c.4337T>G (p.Ile1446Ser)
c.4313T>G (p.Ile1438Ser)
c.4373T>G (p.Ile1458Ser)
 ClinVar
17g.31259045T=CA2255574324NF1c.134T= (p.Ile45=)
c.4328T= (p.Ile1443=)
n.452T=
c.337T=
n.991T=
c.4376T= (p.Ile1459=)
n.318T=
c.4346T= (p.Ile1449=)
c.4283T= (p.Ile1428=)
c.3281T= (p.Ile1094=)
c.862T=
c.799T=
n.2819T=
c.4385T= (p.Ile1462=)
c.4337T= (p.Ile1446=)
c.4313T= (p.Ile1438=)
c.4373T= (p.Ile1458=)
17g.31259046T>ACA499233582NF1c.135T>A (p.Ile45=)
c.4329T>A (p.Ile1443=)
n.453T>A
c.338T>A
n.992T>A
c.4377T>A (p.Ile1459=)
n.319T>A
c.4347T>A (p.Ile1449=)
c.4284T>A (p.Ile1428=)
c.3282T>A (p.Ile1094=)
c.863T>A
c.800T>A
n.2820T>A
c.4386T>A (p.Ile1462=)
c.4338T>A (p.Ile1446=)
c.4314T>A (p.Ile1438=)
c.4374T>A (p.Ile1458=)
17g.31259046T>CCA499233583NF1c.135T>C (p.Ile45=)
c.4329T>C (p.Ile1443=)
n.453T>C
c.338T>C
n.992T>C
c.4377T>C (p.Ile1459=)
n.319T>C
c.4347T>C (p.Ile1449=)
c.4284T>C (p.Ile1428=)
c.3282T>C (p.Ile1094=)
c.863T>C
c.800T>C
n.2820T>C
c.4386T>C (p.Ile1462=)
c.4338T>C (p.Ile1446=)
c.4314T>C (p.Ile1438=)
c.4374T>C (p.Ile1458=)
17g.31259046T>GCA398998726NF1c.135T>G (p.Ile45Met)
c.4329T>G (p.Ile1443Met)
n.453T>G
c.338T>G
n.992T>G
c.4377T>G (p.Ile1459Met)
n.319T>G
c.4347T>G (p.Ile1449Met)
c.4284T>G (p.Ile1428Met)
c.3282T>G (p.Ile1094Met)
c.863T>G
c.800T>G
n.2820T>G
c.4386T>G (p.Ile1462Met)
c.4338T>G (p.Ile1446Met)
c.4314T>G (p.Ile1438Met)
c.4374T>G (p.Ile1458Met)
17g.31259047G>ACA398998728NF1c.136G>A (p.Ala46Thr)
c.4330G>A (p.Ala1444Thr)
n.454G>A
c.339G>A
n.993G>A
c.4378G>A (p.Ala1460Thr)
n.320G>A
c.4348G>A (p.Ala1450Thr)
c.4285G>A (p.Ala1429Thr)
c.3283G>A (p.Ala1095Thr)
c.864G>A
c.801G>A
n.2821G>A
c.4387G>A (p.Ala1463Thr)
c.4339G>A (p.Ala1447Thr)
c.4315G>A (p.Ala1439Thr)
c.4375G>A (p.Ala1459Thr)
 ClinVar dbSNP gnomAD v4
17g.31259047G>CCA398998731NF1c.136G>C (p.Ala46Pro)
c.4330G>C (p.Ala1444Pro)
n.454G>C
c.339G>C
n.993G>C
c.4378G>C (p.Ala1460Pro)
n.320G>C
c.4348G>C (p.Ala1450Pro)
c.4285G>C (p.Ala1429Pro)
c.3283G>C (p.Ala1095Pro)
c.864G>C
c.801G>C
n.2821G>C
c.4387G>C (p.Ala1463Pro)
c.4339G>C (p.Ala1447Pro)
c.4315G>C (p.Ala1439Pro)
c.4375G>C (p.Ala1459Pro)
 dbSNP
17g.31259047G>TCA398998729NF1c.136G>T (p.Ala46Ser)
c.4330G>T (p.Ala1444Ser)
n.454G>T
c.339G>T
n.993G>T
c.4378G>T (p.Ala1460Ser)
n.320G>T
c.4348G>T (p.Ala1450Ser)
c.4285G>T (p.Ala1429Ser)
c.3283G>T (p.Ala1095Ser)
c.864G>T
c.801G>T
n.2821G>T
c.4387G>T (p.Ala1463Ser)
c.4339G>T (p.Ala1447Ser)
c.4315G>T (p.Ala1439Ser)
c.4375G>T (p.Ala1459Ser)
 ClinVar dbSNP gnomAD v4
17g.31259048C>ACA398998732NF1c.137C>A (p.Ala46Asp)
c.4331C>A (p.Ala1444Asp)
n.455C>A
c.340C>A
n.994C>A
c.4379C>A (p.Ala1460Asp)
n.321C>A
c.4349C>A (p.Ala1450Asp)
c.4286C>A (p.Ala1429Asp)
c.3284C>A (p.Ala1095Asp)
c.865C>A
c.802C>A
n.2822C>A
c.4388C>A (p.Ala1463Asp)
c.4340C>A (p.Ala1447Asp)
c.4316C>A (p.Ala1439Asp)
c.4376C>A (p.Ala1459Asp)
 ClinVar dbSNP gnomAD v4
17g.31259048C=CA2255574332NF1c.137C= (p.Ala46=)
c.4331C= (p.Ala1444=)
n.455C=
c.340C=
n.994C=
c.4379C= (p.Ala1460=)
n.321C=
c.4349C= (p.Ala1450=)
c.4286C= (p.Ala1429=)
c.3284C= (p.Ala1095=)
c.865C=
c.802C=
n.2822C=
c.4388C= (p.Ala1463=)
c.4340C= (p.Ala1447=)
c.4316C= (p.Ala1439=)
c.4376C= (p.Ala1459=)
17g.31259048C>GCA398998733NF1c.137C>G (p.Ala46Gly)
c.4331C>G (p.Ala1444Gly)
n.455C>G
c.340C>G
n.994C>G
c.4379C>G (p.Ala1460Gly)
n.321C>G
c.4349C>G (p.Ala1450Gly)
c.4286C>G (p.Ala1429Gly)
c.3284C>G (p.Ala1095Gly)
c.865C>G
c.802C>G
n.2822C>G
c.4388C>G (p.Ala1463Gly)
c.4340C>G (p.Ala1447Gly)
c.4316C>G (p.Ala1439Gly)
c.4376C>G (p.Ala1459Gly)
 dbSNP
17g.31259048C>TCA398998735NF1c.137C>T (p.Ala46Val)
c.4331C>T (p.Ala1444Val)
n.455C>T
c.340C>T
n.994C>T
c.4379C>T (p.Ala1460Val)
n.321C>T
c.4349C>T (p.Ala1450Val)
c.4286C>T (p.Ala1429Val)
c.3284C>T (p.Ala1095Val)
c.865C>T
c.802C>T
n.2822C>T
c.4388C>T (p.Ala1463Val)
c.4340C>T (p.Ala1447Val)
c.4316C>T (p.Ala1439Val)
c.4376C>T (p.Ala1459Val)
 ClinVar dbSNP gnomAD v4
17g.31259049delCA2695225673NF1c.138del (p.Asn47IlefsTer18)
c.4332del (p.Asn1445IlefsTer18)
n.456del
c.341del
n.995del
c.4380del (p.Asn1461IlefsTer18)
n.322del
c.4350del (p.Asn1451IlefsTer18)
c.4287del (p.Asn1430IlefsTer18)
c.3285del (p.Asn1096IlefsTer18)
c.866del
c.803del
n.2823del
c.4389del (p.Asn1464IlefsTer18)
c.4341del (p.Asn1448IlefsTer18)
c.4317del (p.Asn1440IlefsTer18)
c.4377del (p.Asn1460IlefsTer18)
17g.31259049C>ACA8486398NF1c.138C>A (p.Ala46=)
c.4332C>A (p.Ala1444=)
n.456C>A
c.341C>A
n.995C>A
c.4380C>A (p.Ala1460=)
n.322C>A
c.4350C>A (p.Ala1450=)
c.4287C>A (p.Ala1429=)
c.3285C>A (p.Ala1095=)
c.866C>A
c.803C>A
n.2823C>A
c.4389C>A (p.Ala1463=)
c.4341C>A (p.Ala1447=)
c.4317C>A (p.Ala1439=)
c.4377C>A (p.Ala1459=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31259049C=CA2255574339NF1c.138C= (p.Ala46=)
c.4332C= (p.Ala1444=)
n.456C=
c.341C=
n.995C=
c.4380C= (p.Ala1460=)
n.322C=
c.4350C= (p.Ala1450=)
c.4287C= (p.Ala1429=)
c.3285C= (p.Ala1095=)
c.866C=
c.803C=
n.2823C=
c.4389C= (p.Ala1463=)
c.4341C= (p.Ala1447=)
c.4317C= (p.Ala1439=)
c.4377C= (p.Ala1459=)
17g.31259049C>GCA499233584NF1c.138C>G (p.Ala46=)
c.4332C>G (p.Ala1444=)
n.456C>G
c.341C>G
n.995C>G
c.4380C>G (p.Ala1460=)
n.322C>G
c.4350C>G (p.Ala1450=)
c.4287C>G (p.Ala1429=)
c.3285C>G (p.Ala1095=)
c.866C>G
c.803C>G
n.2823C>G
c.4389C>G (p.Ala1463=)
c.4341C>G (p.Ala1447=)
c.4317C>G (p.Ala1439=)
c.4377C>G (p.Ala1459=)
17g.31259049C>TCA499233585NF1c.138C>T (p.Ala46=)
c.4332C>T (p.Ala1444=)
n.456C>T
c.341C>T
n.995C>T
c.4380C>T (p.Ala1460=)
n.322C>T
c.4350C>T (p.Ala1450=)
c.4287C>T (p.Ala1429=)
c.3285C>T (p.Ala1095=)
c.866C>T
c.803C>T
n.2823C>T
c.4389C>T (p.Ala1463=)
c.4341C>T (p.Ala1447=)
c.4317C>T (p.Ala1439=)
c.4377C>T (p.Ala1459=)
 ClinVar dbSNP
17g.31259050A=CA2255574353NF1c.139A= (p.Asn47=)
c.4333A= (p.Asn1445=)
n.457A=
c.342A=
n.996A=
c.4381A= (p.Asn1461=)
n.323A=
c.4351A= (p.Asn1451=)
c.4288A= (p.Asn1430=)
c.3286A= (p.Asn1096=)
c.867A=
c.804A=
n.2824A=
c.4390A= (p.Asn1464=)
c.4342A= (p.Asn1448=)
c.4318A= (p.Asn1440=)
c.4378A= (p.Asn1460=)
17g.31259050A>CCA398998737NF1c.139A>C (p.Asn47His)
c.4333A>C (p.Asn1445His)
n.457A>C
c.342A>C
n.996A>C
c.4381A>C (p.Asn1461His)
n.323A>C
c.4351A>C (p.Asn1451His)
c.4288A>C (p.Asn1430His)
c.3286A>C (p.Asn1096His)
c.867A>C
c.804A>C
n.2824A>C
c.4390A>C (p.Asn1464His)
c.4342A>C (p.Asn1448His)
c.4318A>C (p.Asn1440His)
c.4378A>C (p.Asn1460His)
17g.31259050A>GCA398998739NF1c.139A>G (p.Asn47Asp)
c.4333A>G (p.Asn1445Asp)
n.457A>G
c.342A>G
n.996A>G
c.4381A>G (p.Asn1461Asp)
n.323A>G
c.4351A>G (p.Asn1451Asp)
c.4288A>G (p.Asn1430Asp)
c.3286A>G (p.Asn1096Asp)
c.867A>G
c.804A>G
n.2824A>G
c.4390A>G (p.Asn1464Asp)
c.4342A>G (p.Asn1448Asp)
c.4318A>G (p.Asn1440Asp)
c.4378A>G (p.Asn1460Asp)
 ClinVar dbSNP
17g.31259050A>TCA398998738NF1c.139A>T (p.Asn47Tyr)
c.4333A>T (p.Asn1445Tyr)
n.457A>T
c.342A>T
n.996A>T
c.4381A>T (p.Asn1461Tyr)
n.323A>T
c.4351A>T (p.Asn1451Tyr)
c.4288A>T (p.Asn1430Tyr)
c.3286A>T (p.Asn1096Tyr)
c.867A>T
c.804A>T
n.2824A>T
c.4390A>T (p.Asn1464Tyr)
c.4342A>T (p.Asn1448Tyr)
c.4318A>T (p.Asn1440Tyr)
c.4378A>T (p.Asn1460Tyr)
 ClinVar dbSNP
17g.31259051A=CA2255574367NF1c.140A= (p.Asn47=)
c.4334A= (p.Asn1445=)
n.458A=
c.343A=
n.997A=
c.4382A= (p.Asn1461=)
n.324A=
c.4352A= (p.Asn1451=)
c.4289A= (p.Asn1430=)
c.3287A= (p.Asn1096=)
c.868A=
c.805A=
n.2825A=
c.4391A= (p.Asn1464=)
c.4343A= (p.Asn1448=)
c.4319A= (p.Asn1440=)
c.4379A= (p.Asn1460=)
17g.31259051A>CCA219574NF1c.140A>C (p.Asn47Thr)
c.4334A>C (p.Asn1445Thr)
n.458A>C
c.343A>C
n.997A>C
c.4382A>C (p.Asn1461Thr)
n.324A>C
c.4352A>C (p.Asn1451Thr)
c.4289A>C (p.Asn1430Thr)
c.3287A>C (p.Asn1096Thr)
c.868A>C
c.805A>C
n.2825A>C
c.4391A>C (p.Asn1464Thr)
c.4343A>C (p.Asn1448Thr)
c.4319A>C (p.Asn1440Thr)
c.4379A>C (p.Asn1460Thr)
 ClinVar dbSNP
17g.31259051A>GCA10580311NF1c.140A>G (p.Asn47Ser)
c.4334A>G (p.Asn1445Ser)
n.458A>G
c.343A>G
n.997A>G
c.4382A>G (p.Asn1461Ser)
n.324A>G
c.4352A>G (p.Asn1451Ser)
c.4289A>G (p.Asn1430Ser)
c.3287A>G (p.Asn1096Ser)
c.868A>G
c.805A>G
n.2825A>G
c.4391A>G (p.Asn1464Ser)
c.4343A>G (p.Asn1448Ser)
c.4319A>G (p.Asn1440Ser)
c.4379A>G (p.Asn1460Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31259051A>TCA398998742NF1c.140A>T (p.Asn47Ile)
c.4334A>T (p.Asn1445Ile)
n.458A>T
c.343A>T
n.997A>T
c.4382A>T (p.Asn1461Ile)
n.324A>T
c.4352A>T (p.Asn1451Ile)
c.4289A>T (p.Asn1430Ile)
c.3287A>T (p.Asn1096Ile)
c.868A>T
c.805A>T
n.2825A>T
c.4391A>T (p.Asn1464Ile)
c.4343A>T (p.Asn1448Ile)
c.4319A>T (p.Asn1440Ile)
c.4379A>T (p.Asn1460Ile)
 ClinVar dbSNP
17g.31259052T>ACA398998744NF1c.141T>A (p.Asn47Lys)
c.4335T>A (p.Asn1445Lys)
n.459T>A
c.344T>A
n.998T>A
c.4383T>A (p.Asn1461Lys)
n.325T>A
c.4353T>A (p.Asn1451Lys)
c.4290T>A (p.Asn1430Lys)
c.3288T>A (p.Asn1096Lys)
c.869T>A
c.806T>A
n.2826T>A
c.4392T>A (p.Asn1464Lys)
c.4344T>A (p.Asn1448Lys)
c.4320T>A (p.Asn1440Lys)
c.4380T>A (p.Asn1460Lys)
 ClinVar
17g.31259052T>CCA499233586NF1c.141T>C (p.Asn47=)
c.4335T>C (p.Asn1445=)
n.459T>C
c.344T>C
n.998T>C
c.4383T>C (p.Asn1461=)
n.325T>C
c.4353T>C (p.Asn1451=)
c.4290T>C (p.Asn1430=)
c.3288T>C (p.Asn1096=)
c.869T>C
c.806T>C
n.2826T>C
c.4392T>C (p.Asn1464=)
c.4344T>C (p.Asn1448=)
c.4320T>C (p.Asn1440=)
c.4380T>C (p.Asn1460=)
17g.31259052T>GCA398998746NF1c.141T>G (p.Asn47Lys)
c.4335T>G (p.Asn1445Lys)
n.459T>G
c.344T>G
n.998T>G
c.4383T>G (p.Asn1461Lys)
n.325T>G
c.4353T>G (p.Asn1451Lys)
c.4290T>G (p.Asn1430Lys)
c.3288T>G (p.Asn1096Lys)
c.869T>G
c.806T>G
n.2826T>G
c.4392T>G (p.Asn1464Lys)
c.4344T>G (p.Asn1448Lys)
c.4320T>G (p.Asn1440Lys)
c.4380T>G (p.Asn1460Lys)
 gnomAD v4
17g.31259052dupCA2695225674NF1c.141dup (p.His48SerfsTer15)
c.4335dup (p.His1446SerfsTer15)
n.459dup
c.344dup
n.998dup
c.4383dup (p.His1462SerfsTer15)
n.325dup
c.4353dup (p.His1452SerfsTer15)
c.4290dup (p.His1431SerfsTer15)
c.3288dup (p.His1097SerfsTer15)
c.869dup
c.806dup
n.2826dup
c.4392dup (p.His1465SerfsTer15)
c.4344dup (p.His1449SerfsTer15)
c.4320dup (p.His1441SerfsTer15)
c.4380dup (p.His1461SerfsTer15)
17g.31259053C>ACA398998747NF1c.142C>A (p.His48Asn)
c.4336C>A (p.His1446Asn)
n.460C>A
c.345C>A
n.999C>A
c.4384C>A (p.His1462Asn)
n.326C>A
c.4354C>A (p.His1452Asn)
c.4291C>A (p.His1431Asn)
c.3289C>A (p.His1097Asn)
c.870C>A
c.807C>A
n.2827C>A
c.4393C>A (p.His1465Asn)
c.4345C>A (p.His1449Asn)
c.4321C>A (p.His1441Asn)
c.4381C>A (p.His1461Asn)
17g.31259053C>GCA398998749NF1c.142C>G (p.His48Asp)
c.4336C>G (p.His1446Asp)
n.460C>G
c.345C>G
n.999C>G
c.4384C>G (p.His1462Asp)
n.326C>G
c.4354C>G (p.His1452Asp)
c.4291C>G (p.His1431Asp)
c.3289C>G (p.His1097Asp)
c.870C>G
c.807C>G
n.2827C>G
c.4393C>G (p.His1465Asp)
c.4345C>G (p.His1449Asp)
c.4321C>G (p.His1441Asp)
c.4381C>G (p.His1461Asp)
 dbSNP
17g.31259053C>TCA398998750NF1c.142C>T (p.His48Tyr)
c.4336C>T (p.His1446Tyr)
n.460C>T
c.345C>T
n.999C>T
c.4384C>T (p.His1462Tyr)
n.326C>T
c.4354C>T (p.His1452Tyr)
c.4291C>T (p.His1431Tyr)
c.3289C>T (p.His1097Tyr)
c.870C>T
c.807C>T
n.2827C>T
c.4393C>T (p.His1465Tyr)
c.4345C>T (p.His1449Tyr)
c.4321C>T (p.His1441Tyr)
c.4381C>T (p.His1461Tyr)
 dbSNP
17g.31259054delCA2573153623NF1c.143del (p.His48LeufsTer17)
c.4337del (p.His1446LeufsTer17)
n.461del
c.346del
n.1000del
c.4385del (p.His1462LeufsTer17)
n.327del
c.4355del (p.His1452LeufsTer17)
c.4292del (p.His1431LeufsTer17)
c.3290del (p.His1097LeufsTer17)
c.871del
c.808del
n.2828del
c.4394del (p.His1465LeufsTer17)
c.4346del (p.His1449LeufsTer17)
c.4322del (p.His1441LeufsTer17)
c.4382del (p.His1461LeufsTer17)
 ClinVar dbSNP
17g.31259054A=CA2255574385NF1c.143A= (p.His48=)
c.4337A= (p.His1446=)
n.461A=
c.346A=
n.1000A=
c.4385A= (p.His1462=)
n.327A=
c.4355A= (p.His1452=)
c.4292A= (p.His1431=)
c.3290A= (p.His1097=)
c.871A=
c.808A=
n.2828A=
c.4394A= (p.His1465=)
c.4346A= (p.His1449=)
c.4322A= (p.His1441=)
c.4382A= (p.His1461=)
17g.31259054A>CCA398998752NF1c.143A>C (p.His48Pro)
c.4337A>C (p.His1446Pro)
n.461A>C
c.346A>C
n.1000A>C
c.4385A>C (p.His1462Pro)
n.327A>C
c.4355A>C (p.His1452Pro)
c.4292A>C (p.His1431Pro)
c.3290A>C (p.His1097Pro)
c.871A>C
c.808A>C
n.2828A>C
c.4394A>C (p.His1465Pro)
c.4346A>C (p.His1449Pro)
c.4322A>C (p.His1441Pro)
c.4382A>C (p.His1461Pro)
 ClinVar dbSNP
17g.31259054A>GCA398998754NF1c.143A>G (p.His48Arg)
c.4337A>G (p.His1446Arg)
n.461A>G
c.346A>G
n.1000A>G
c.4385A>G (p.His1462Arg)
n.327A>G
c.4355A>G (p.His1452Arg)
c.4292A>G (p.His1431Arg)
c.3290A>G (p.His1097Arg)
c.871A>G
c.808A>G
n.2828A>G
c.4394A>G (p.His1465Arg)
c.4346A>G (p.His1449Arg)
c.4322A>G (p.His1441Arg)
c.4382A>G (p.His1461Arg)
 ClinVar dbSNP gnomAD v4
17g.31259054A>TCA398998755NF1c.143A>T (p.His48Leu)
c.4337A>T (p.His1446Leu)
n.461A>T
c.346A>T
n.1000A>T
c.4385A>T (p.His1462Leu)
n.327A>T
c.4355A>T (p.His1452Leu)
c.4292A>T (p.His1431Leu)
c.3290A>T (p.His1097Leu)
c.871A>T
c.808A>T
n.2828A>T
c.4394A>T (p.His1465Leu)
c.4346A>T (p.His1449Leu)
c.4322A>T (p.His1441Leu)
c.4382A>T (p.His1461Leu)
 dbSNP
17g.31259055T>ACA398998756NF1c.144T>A (p.His48Gln)
c.4338T>A (p.His1446Gln)
n.462T>A
c.347T>A
n.1001T>A
c.4386T>A (p.His1462Gln)
n.328T>A
c.4356T>A (p.His1452Gln)
c.4293T>A (p.His1431Gln)
c.3291T>A (p.His1097Gln)
c.872T>A
c.809T>A
n.2829T>A
c.4395T>A (p.His1465Gln)
c.4347T>A (p.His1449Gln)
c.4323T>A (p.His1441Gln)
c.4383T>A (p.His1461Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.31259055T>CCA499233587NF1c.144T>C (p.His48=)
c.4338T>C (p.His1446=)
n.462T>C
c.347T>C
n.1001T>C
c.4386T>C (p.His1462=)
n.328T>C
c.4356T>C (p.His1452=)
c.4293T>C (p.His1431=)
c.3291T>C (p.His1097=)
c.872T>C
c.809T>C
n.2829T>C
c.4395T>C (p.His1465=)
c.4347T>C (p.His1449=)
c.4323T>C (p.His1441=)
c.4383T>C (p.His1461=)
 ClinVar dbSNP
17g.31259055T>GCA398998757NF1c.144T>G (p.His48Gln)
c.4338T>G (p.His1446Gln)
n.462T>G
c.347T>G
n.1001T>G
c.4386T>G (p.His1462Gln)
n.328T>G
c.4356T>G (p.His1452Gln)
c.4293T>G (p.His1431Gln)
c.3291T>G (p.His1097Gln)
c.872T>G
c.809T>G
n.2829T>G
c.4395T>G (p.His1465Gln)
c.4347T>G (p.His1449Gln)
c.4323T>G (p.His1441Gln)
c.4383T>G (p.His1461Gln)
17g.31259055T=CA2255574392NF1c.144T= (p.His48=)
c.4338T= (p.His1446=)
n.462T=
c.347T=
n.1001T=
c.4386T= (p.His1462=)
n.328T=
c.4356T= (p.His1452=)
c.4293T= (p.His1431=)
c.3291T= (p.His1097=)
c.872T=
c.809T=
n.2829T=
c.4395T= (p.His1465=)
c.4347T= (p.His1449=)
c.4323T= (p.His1441=)
c.4383T= (p.His1461=)
17g.31259056G>ACA8486399NF1c.145G>A (p.Val49Ile)
c.4339G>A (p.Val1447Ile)
n.463G>A
c.348G>A
n.1002G>A
c.4387G>A (p.Val1463Ile)
n.329G>A
c.4357G>A (p.Val1453Ile)
c.4294G>A (p.Val1432Ile)
c.3292G>A (p.Val1098Ile)
c.873G>A
c.810G>A
n.2830G>A
c.4396G>A (p.Val1466Ile)
c.4348G>A (p.Val1450Ile)
c.4324G>A (p.Val1442Ile)
c.4384G>A (p.Val1462Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31259056G>CCA219578NF1c.145G>C (p.Val49Leu)
c.4339G>C (p.Val1447Leu)
n.463G>C
c.348G>C
n.1002G>C
c.4387G>C (p.Val1463Leu)
n.329G>C
c.4357G>C (p.Val1453Leu)
c.4294G>C (p.Val1432Leu)
c.3292G>C (p.Val1098Leu)
c.873G>C
c.810G>C
n.2830G>C
c.4396G>C (p.Val1466Leu)
c.4348G>C (p.Val1450Leu)
c.4324G>C (p.Val1442Leu)
c.4384G>C (p.Val1462Leu)
 ClinVar dbSNP gnomAD v4
17g.31259056G=CA2255574400NF1c.145G= (p.Val49=)
c.4339G= (p.Val1447=)
n.463G=
c.348G=
n.1002G=
c.4387G= (p.Val1463=)
n.329G=
c.4357G= (p.Val1453=)
c.4294G= (p.Val1432=)
c.3292G= (p.Val1098=)
c.873G=
c.810G=
n.2830G=
c.4396G= (p.Val1466=)
c.4348G= (p.Val1450=)
c.4324G= (p.Val1442=)
c.4384G= (p.Val1462=)
17g.31259056G>TCA398998759NF1c.145G>T (p.Val49Phe)
c.4339G>T (p.Val1447Phe)
n.463G>T
c.348G>T
n.1002G>T
c.4387G>T (p.Val1463Phe)
n.329G>T
c.4357G>T (p.Val1453Phe)
c.4294G>T (p.Val1432Phe)
c.3292G>T (p.Val1098Phe)
c.873G>T
c.810G>T
n.2830G>T
c.4396G>T (p.Val1466Phe)
c.4348G>T (p.Val1450Phe)
c.4324G>T (p.Val1442Phe)
c.4384G>T (p.Val1462Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31259057T>ACA398998761NF1c.146T>A (p.Val49Asp)
c.4340T>A (p.Val1447Asp)
n.464T>A
c.349T>A
n.1003T>A
c.4388T>A (p.Val1463Asp)
n.330T>A
c.4358T>A (p.Val1453Asp)
c.4295T>A (p.Val1432Asp)
c.3293T>A (p.Val1098Asp)
c.874T>A
c.811T>A
n.2831T>A
c.4397T>A (p.Val1466Asp)
c.4349T>A (p.Val1450Asp)
c.4325T>A (p.Val1442Asp)
c.4385T>A (p.Val1462Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.31259057T>CCA398998762NF1c.146T>C (p.Val49Ala)
c.4340T>C (p.Val1447Ala)
n.464T>C
c.349T>C
n.1003T>C
c.4388T>C (p.Val1463Ala)
n.330T>C
c.4358T>C (p.Val1453Ala)
c.4295T>C (p.Val1432Ala)
c.3293T>C (p.Val1098Ala)
c.874T>C
c.811T>C
n.2831T>C
c.4397T>C (p.Val1466Ala)
c.4349T>C (p.Val1450Ala)
c.4325T>C (p.Val1442Ala)
c.4385T>C (p.Val1462Ala)
 ClinVar dbSNP gnomAD v4
17g.31259057T>GCA398998763NF1c.146T>G (p.Val49Gly)
c.4340T>G (p.Val1447Gly)
n.464T>G
c.349T>G
n.1003T>G
c.4388T>G (p.Val1463Gly)
n.330T>G
c.4358T>G (p.Val1453Gly)
c.4295T>G (p.Val1432Gly)
c.3293T>G (p.Val1098Gly)
c.874T>G
c.811T>G
n.2831T>G
c.4397T>G (p.Val1466Gly)
c.4349T>G (p.Val1450Gly)
c.4325T>G (p.Val1442Gly)
c.4385T>G (p.Val1462Gly)
17g.31259057T=CA2255574411NF1c.146T= (p.Val49=)
c.4340T= (p.Val1447=)
n.464T=
c.349T=
n.1003T=
c.4388T= (p.Val1463=)
n.330T=
c.4358T= (p.Val1453=)
c.4295T= (p.Val1432=)
c.3293T= (p.Val1098=)
c.874T=
c.811T=
n.2831T=
c.4397T= (p.Val1466=)
c.4349T= (p.Val1450=)
c.4325T= (p.Val1442=)
c.4385T= (p.Val1462=)
17g.31259057_31259058dupCA2695225675NF1c.146_147dup (p.Leu50PhefsTer16)
c.4340_4341dup (p.Leu1448PhefsTer16)
n.464_465dup
c.349_350dup
n.1003_1004dup
c.4388_4389dup (p.Leu1464PhefsTer16)
n.330_331dup
c.4358_4359dup (p.Leu1454PhefsTer16)
c.4295_4296dup (p.Leu1433PhefsTer16)
c.3293_3294dup (p.Leu1099PhefsTer16)
c.874_875dup
c.811_812dup
n.2831_2832dup
c.4397_4398dup (p.Leu1467PhefsTer16)
c.4349_4350dup (p.Leu1451PhefsTer16)
c.4325_4326dup (p.Leu1443PhefsTer16)
c.4385_4386dup (p.Leu1463PhefsTer16)
17g.31259058T>ACA499233589NF1c.147T>A (p.Val49=)
c.4341T>A (p.Val1447=)
n.465T>A
c.350T>A
n.1004T>A
c.4389T>A (p.Val1463=)
n.331T>A
c.4359T>A (p.Val1453=)
c.4296T>A (p.Val1432=)
c.3294T>A (p.Val1098=)
c.875T>A
c.812T>A
n.2832T>A
c.4398T>A (p.Val1466=)
c.4350T>A (p.Val1450=)
c.4326T>A (p.Val1442=)
c.4386T>A (p.Val1462=)
 dbSNP
17g.31259058T>CCA499233590NF1c.147T>C (p.Val49=)
c.4341T>C (p.Val1447=)
n.465T>C
c.350T>C
n.1004T>C
c.4389T>C (p.Val1463=)
n.331T>C
c.4359T>C (p.Val1453=)
c.4296T>C (p.Val1432=)
c.3294T>C (p.Val1098=)
c.875T>C
c.812T>C
n.2832T>C
c.4398T>C (p.Val1466=)
c.4350T>C (p.Val1450=)
c.4326T>C (p.Val1442=)
c.4386T>C (p.Val1462=)
17g.31259058T>GCA499233588NF1c.147T>G (p.Val49=)
c.4341T>G (p.Val1447=)
n.465T>G
c.350T>G
n.1004T>G
c.4389T>G (p.Val1463=)
n.331T>G
c.4359T>G (p.Val1453=)
c.4296T>G (p.Val1432=)
c.3294T>G (p.Val1098=)
c.875T>G
c.812T>G
n.2832T>G
c.4398T>G (p.Val1466=)
c.4350T>G (p.Val1450=)
c.4326T>G (p.Val1442=)
c.4386T>G (p.Val1462=)
17g.31259061_31259062delCA2695225676NF1c.150_151del (p.Phe51HisfsTer11)
c.4344_4345del (p.Phe1449HisfsTer11)
n.468_469del
c.353_354del
n.1007_1008del
c.4392_4393del (p.Phe1465HisfsTer11)
n.334_335del
c.4362_4363del (p.Phe1455HisfsTer11)
c.4299_4300del (p.Phe1434HisfsTer11)
c.3297_3298del (p.Phe1100HisfsTer11)
c.878_879del
c.815_816del
n.2835_2836del
c.4401_4402del (p.Phe1468HisfsTer11)
c.4353_4354del (p.Phe1452HisfsTer11)
c.4329_4330del (p.Phe1444HisfsTer11)
c.4389_4390del (p.Phe1464HisfsTer11)
17g.31259059C>ACA398998765NF1c.148C>A (p.Leu50Ile)
c.4342C>A (p.Leu1448Ile)
n.466C>A
c.351C>A
n.1005C>A
c.4390C>A (p.Leu1464Ile)
n.332C>A
c.4360C>A (p.Leu1454Ile)
c.4297C>A (p.Leu1433Ile)
c.3295C>A (p.Leu1099Ile)
c.876C>A
c.813C>A
n.2833C>A
c.4399C>A (p.Leu1467Ile)
c.4351C>A (p.Leu1451Ile)
c.4327C>A (p.Leu1443Ile)
c.4387C>A (p.Leu1463Ile)
17g.31259059C=CA2255574415NF1c.148C= (p.Leu50=)
c.4342C= (p.Leu1448=)
n.466C=
c.351C=
n.1005C=
c.4390C= (p.Leu1464=)
n.332C=
c.4360C= (p.Leu1454=)
c.4297C= (p.Leu1433=)
c.3295C= (p.Leu1099=)
c.876C=
c.813C=
n.2833C=
c.4399C= (p.Leu1467=)
c.4351C= (p.Leu1451=)
c.4327C= (p.Leu1443=)
c.4387C= (p.Leu1463=)
17g.31259059C>GCA398998766NF1c.148C>G (p.Leu50Val)
c.4342C>G (p.Leu1448Val)
n.466C>G
c.351C>G
n.1005C>G
c.4390C>G (p.Leu1464Val)
n.332C>G
c.4360C>G (p.Leu1454Val)
c.4297C>G (p.Leu1433Val)
c.3295C>G (p.Leu1099Val)
c.876C>G
c.813C>G
n.2833C>G
c.4399C>G (p.Leu1467Val)
c.4351C>G (p.Leu1451Val)
c.4327C>G (p.Leu1443Val)
c.4387C>G (p.Leu1463Val)
 ClinVar dbSNP gnomAD v4
17g.31259059C>TCA398998768NF1c.148C>T (p.Leu50Phe)
c.4342C>T (p.Leu1448Phe)
n.466C>T
c.351C>T
n.1005C>T
c.4390C>T (p.Leu1464Phe)
n.332C>T
c.4360C>T (p.Leu1454Phe)
c.4297C>T (p.Leu1433Phe)
c.3295C>T (p.Leu1099Phe)
c.876C>T
c.813C>T
n.2833C>T
c.4399C>T (p.Leu1467Phe)
c.4351C>T (p.Leu1451Phe)
c.4327C>T (p.Leu1443Phe)
c.4387C>T (p.Leu1463Phe)
 ClinVar dbSNP
17g.31259060T>ACA398998769NF1c.149T>A (p.Leu50His)
c.4343T>A (p.Leu1448His)
n.467T>A
c.352T>A
n.1006T>A
c.4391T>A (p.Leu1464His)
n.333T>A
c.4361T>A (p.Leu1454His)
c.4298T>A (p.Leu1433His)
c.3296T>A (p.Leu1099His)
c.877T>A
c.814T>A
n.2834T>A
c.4400T>A (p.Leu1467His)
c.4352T>A (p.Leu1451His)
c.4328T>A (p.Leu1443His)
c.4388T>A (p.Leu1463His)
 dbSNP
17g.31259060T>CCA398998770NF1c.149T>C (p.Leu50Pro)
c.4343T>C (p.Leu1448Pro)
n.467T>C
c.352T>C
n.1006T>C
c.4391T>C (p.Leu1464Pro)
n.333T>C
c.4361T>C (p.Leu1454Pro)
c.4298T>C (p.Leu1433Pro)
c.3296T>C (p.Leu1099Pro)
c.877T>C
c.814T>C
n.2834T>C
c.4400T>C (p.Leu1467Pro)
c.4352T>C (p.Leu1451Pro)
c.4328T>C (p.Leu1443Pro)
c.4388T>C (p.Leu1463Pro)
 ClinVar dbSNP
17g.31259060T>GCA398998771NF1c.149T>G (p.Leu50Arg)
c.4343T>G (p.Leu1448Arg)
n.467T>G
c.352T>G
n.1006T>G
c.4391T>G (p.Leu1464Arg)
n.333T>G
c.4361T>G (p.Leu1454Arg)
c.4298T>G (p.Leu1433Arg)
c.3296T>G (p.Leu1099Arg)
c.877T>G
c.814T>G
n.2834T>G
c.4400T>G (p.Leu1467Arg)
c.4352T>G (p.Leu1451Arg)
c.4328T>G (p.Leu1443Arg)
c.4388T>G (p.Leu1463Arg)
17g.31259060T=CA2255574422NF1c.149T= (p.Leu50=)
c.4343T= (p.Leu1448=)
n.467T=
c.352T=
n.1006T=
c.4391T= (p.Leu1464=)
n.333T=
c.4361T= (p.Leu1454=)
c.4298T= (p.Leu1433=)
c.3296T= (p.Leu1099=)
c.877T=
c.814T=
n.2834T=
c.4400T= (p.Leu1467=)
c.4352T= (p.Leu1451=)
c.4328T= (p.Leu1443=)
c.4388T= (p.Leu1463=)
17g.31259061C>ACA499233591NF1c.150C>A (p.Leu50=)
c.4344C>A (p.Leu1448=)
n.468C>A
c.353C>A
n.1007C>A
c.4392C>A (p.Leu1464=)
n.334C>A
c.4362C>A (p.Leu1454=)
c.4299C>A (p.Leu1433=)
c.3297C>A (p.Leu1099=)
c.878C>A
c.815C>A
n.2835C>A
c.4401C>A (p.Leu1467=)
c.4353C>A (p.Leu1451=)
c.4329C>A (p.Leu1443=)
c.4389C>A (p.Leu1463=)
 gnomAD v4
17g.31259061C=CA2255574427NF1c.150C= (p.Leu50=)
c.4344C= (p.Leu1448=)
n.468C=
c.353C=
n.1007C=
c.4392C= (p.Leu1464=)
n.334C=
c.4362C= (p.Leu1454=)
c.4299C= (p.Leu1433=)
c.3297C= (p.Leu1099=)
c.878C=
c.815C=
n.2835C=
c.4401C= (p.Leu1467=)
c.4353C= (p.Leu1451=)
c.4329C= (p.Leu1443=)
c.4389C= (p.Leu1463=)
17g.31259061C>GCA499233592NF1c.150C>G (p.Leu50=)
c.4344C>G (p.Leu1448=)
n.468C>G
c.353C>G
n.1007C>G
c.4392C>G (p.Leu1464=)
n.334C>G
c.4362C>G (p.Leu1454=)
c.4299C>G (p.Leu1433=)
c.3297C>G (p.Leu1099=)
c.878C>G
c.815C>G
n.2835C>G
c.4401C>G (p.Leu1467=)
c.4353C>G (p.Leu1451=)
c.4329C>G (p.Leu1443=)
c.4389C>G (p.Leu1463=)
 dbSNP
17g.31259061C>TCA350042NF1c.150C>T (p.Leu50=)
c.4344C>T (p.Leu1448=)
n.468C>T
c.353C>T
n.1007C>T
c.4392C>T (p.Leu1464=)
n.334C>T
c.4362C>T (p.Leu1454=)
c.4299C>T (p.Leu1433=)
c.3297C>T (p.Leu1099=)
c.878C>T
c.815C>T
n.2835C>T
c.4401C>T (p.Leu1467=)
c.4353C>T (p.Leu1451=)
c.4329C>T (p.Leu1443=)
c.4389C>T (p.Leu1463=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31259062T>ACA398998774NF1c.151T>A (p.Phe51Ile)
c.4345T>A (p.Phe1449Ile)
n.469T>A
c.354T>A
n.1008T>A
c.4393T>A (p.Phe1465Ile)
n.335T>A
c.4363T>A (p.Phe1455Ile)
c.4300T>A (p.Phe1434Ile)
c.3298T>A (p.Phe1100Ile)
c.879T>A
c.816T>A
n.2836T>A
c.4402T>A (p.Phe1468Ile)
c.4354T>A (p.Phe1452Ile)
c.4330T>A (p.Phe1444Ile)
c.4390T>A (p.Phe1464Ile)
17g.31259062T>CCA398998775NF1c.151T>C (p.Phe51Leu)
c.4345T>C (p.Phe1449Leu)
n.469T>C
c.354T>C
n.1008T>C
c.4393T>C (p.Phe1465Leu)
n.335T>C
c.4363T>C (p.Phe1455Leu)
c.4300T>C (p.Phe1434Leu)
c.3298T>C (p.Phe1100Leu)
c.879T>C
c.816T>C
n.2836T>C
c.4402T>C (p.Phe1468Leu)
c.4354T>C (p.Phe1452Leu)
c.4330T>C (p.Phe1444Leu)
c.4390T>C (p.Phe1464Leu)
17g.31259062T>GCA398998777NF1c.151T>G (p.Phe51Val)
c.4345T>G (p.Phe1449Val)
n.469T>G
c.354T>G
n.1008T>G
c.4393T>G (p.Phe1465Val)
n.335T>G
c.4363T>G (p.Phe1455Val)
c.4300T>G (p.Phe1434Val)
c.3298T>G (p.Phe1100Val)
c.879T>G
c.816T>G
n.2836T>G
c.4402T>G (p.Phe1468Val)
c.4354T>G (p.Phe1452Val)
c.4330T>G (p.Phe1444Val)
c.4390T>G (p.Phe1464Val)
17g.31259063delCA2695225677NF1c.152del (p.Phe51SerfsTer14)
c.4346del (p.Phe1449SerfsTer14)
n.470del
c.355del
n.1009del
c.4394del (p.Phe1465SerfsTer14)
n.336del
c.4364del (p.Phe1455SerfsTer14)
c.4301del (p.Phe1434SerfsTer14)
c.3299del (p.Phe1100SerfsTer14)
c.880del
c.817del
n.2837del
c.4403del (p.Phe1468SerfsTer14)
c.4355del (p.Phe1452SerfsTer14)
c.4331del (p.Phe1444SerfsTer14)
c.4391del (p.Phe1464SerfsTer14)
17g.31259063_31259079delCA2580093020NF1c.152_168del (p.Phe51TyrfsTer6)
c.4346_4362del (p.Phe1449TyrfsTer6)
n.470_486del
c.355_371del
n.1009_1025del
c.4394_4410del (p.Phe1465TyrfsTer6)
n.336_352del
c.4364_4380del (p.Phe1455TyrfsTer6)
c.4301_4317del (p.Phe1434TyrfsTer6)
c.3299_3315del (p.Phe1100TyrfsTer6)
c.880_896del
c.817_833del
n.2837_2853del
c.4403_4419del (p.Phe1468TyrfsTer6)
c.4355_4371del (p.Phe1452TyrfsTer6)
c.4331_4347del (p.Phe1444TyrfsTer6)
c.4391_4407del (p.Phe1464TyrfsTer6)
 ClinVar
17g.31259063T>ACA398998781NF1c.152T>A (p.Phe51Tyr)
c.4346T>A (p.Phe1449Tyr)
n.470T>A
c.355T>A
n.1009T>A
c.4394T>A (p.Phe1465Tyr)
n.336T>A
c.4364T>A (p.Phe1455Tyr)
c.4301T>A (p.Phe1434Tyr)
c.3299T>A (p.Phe1100Tyr)
c.880T>A
c.817T>A
n.2837T>A
c.4403T>A (p.Phe1468Tyr)
c.4355T>A (p.Phe1452Tyr)
c.4331T>A (p.Phe1444Tyr)
c.4391T>A (p.Phe1464Tyr)
 dbSNP
17g.31259063T>CCA398998782NF1c.152T>C (p.Phe51Ser)
c.4346T>C (p.Phe1449Ser)
n.470T>C
c.355T>C
n.1009T>C
c.4394T>C (p.Phe1465Ser)
n.336T>C
c.4364T>C (p.Phe1455Ser)
c.4301T>C (p.Phe1434Ser)
c.3299T>C (p.Phe1100Ser)
c.880T>C
c.817T>C
n.2837T>C
c.4403T>C (p.Phe1468Ser)
c.4355T>C (p.Phe1452Ser)
c.4331T>C (p.Phe1444Ser)
c.4391T>C (p.Phe1464Ser)
17g.31259063T>GCA398998779NF1c.152T>G (p.Phe51Cys)
c.4346T>G (p.Phe1449Cys)
n.470T>G
c.355T>G
n.1009T>G
c.4394T>G (p.Phe1465Cys)
n.336T>G
c.4364T>G (p.Phe1455Cys)
c.4301T>G (p.Phe1434Cys)
c.3299T>G (p.Phe1100Cys)
c.880T>G
c.817T>G
n.2837T>G
c.4403T>G (p.Phe1468Cys)
c.4355T>G (p.Phe1452Cys)
c.4331T>G (p.Phe1444Cys)
c.4391T>G (p.Phe1464Cys)
17g.31259064C>ACA398998784NF1c.153C>A (p.Phe51Leu)
c.4347C>A (p.Phe1449Leu)
n.471C>A
c.356C>A
n.1010C>A
c.4395C>A (p.Phe1465Leu)
n.337C>A
c.4365C>A (p.Phe1455Leu)
c.4302C>A (p.Phe1434Leu)
c.3300C>A (p.Phe1100Leu)
c.881C>A
c.818C>A
n.2838C>A
c.4404C>A (p.Phe1468Leu)
c.4356C>A (p.Phe1452Leu)
c.4332C>A (p.Phe1444Leu)
c.4392C>A (p.Phe1464Leu)
 gnomAD v4
17g.31259064C=CA2255574432NF1c.153C= (p.Phe51=)
c.4347C= (p.Phe1449=)
n.471C=
c.356C=
n.1010C=
c.4395C= (p.Phe1465=)
n.337C=
c.4365C= (p.Phe1455=)
c.4302C= (p.Phe1434=)
c.3300C= (p.Phe1100=)
c.881C=
c.818C=
n.2838C=
c.4404C= (p.Phe1468=)
c.4356C= (p.Phe1452=)
c.4332C= (p.Phe1444=)
c.4392C= (p.Phe1464=)
17g.31259064C>GCA398998786NF1c.153C>G (p.Phe51Leu)
c.4347C>G (p.Phe1449Leu)
n.471C>G
c.356C>G
n.1010C>G
c.4395C>G (p.Phe1465Leu)
n.337C>G
c.4365C>G (p.Phe1455Leu)
c.4302C>G (p.Phe1434Leu)
c.3300C>G (p.Phe1100Leu)
c.881C>G
c.818C>G
n.2838C>G
c.4404C>G (p.Phe1468Leu)
c.4356C>G (p.Phe1452Leu)
c.4332C>G (p.Phe1444Leu)
c.4392C>G (p.Phe1464Leu)
 dbSNP
17g.31259064C>TCA499233593NF1c.153C>T (p.Phe51=)
c.4347C>T (p.Phe1449=)
n.471C>T
c.356C>T
n.1010C>T
c.4395C>T (p.Phe1465=)
n.337C>T
c.4365C>T (p.Phe1455=)
c.4302C>T (p.Phe1434=)
c.3300C>T (p.Phe1100=)
c.881C>T
c.818C>T
n.2838C>T
c.4404C>T (p.Phe1468=)
c.4356C>T (p.Phe1452=)
c.4332C>T (p.Phe1444=)
c.4392C>T (p.Phe1464=)
 ClinVar dbSNP gnomAD v4
17g.31259066_31259067delCA2637081385NF1c.155_156del (p.Thr52LysfsTer10)
c.4349_4350del (p.Thr1450LysfsTer10)
n.473_474del
c.358_359del
n.1012_1013del
c.4397_4398del (p.Thr1466LysfsTer10)
n.339_340del
c.4367_4368del (p.Thr1456LysfsTer10)
c.4304_4305del (p.Thr1435LysfsTer10)
c.3302_3303del (p.Thr1101LysfsTer10)
c.883_884del
c.820_821del
n.2840_2841del
c.4406_4407del (p.Thr1469LysfsTer10)
c.4358_4359del (p.Thr1453LysfsTer10)
c.4334_4335del (p.Thr1445LysfsTer10)
c.4394_4395del (p.Thr1465LysfsTer10)
 gnomAD v4
17g.31259065A>CCA398998787NF1c.154A>C (p.Thr52Pro)
c.4348A>C (p.Thr1450Pro)
n.472A>C
c.357A>C
n.1011A>C
c.4396A>C (p.Thr1466Pro)
n.338A>C
c.4366A>C (p.Thr1456Pro)
c.4303A>C (p.Thr1435Pro)
c.3301A>C (p.Thr1101Pro)
c.882A>C
c.819A>C
n.2839A>C
c.4405A>C (p.Thr1469Pro)
c.4357A>C (p.Thr1453Pro)
c.4333A>C (p.Thr1445Pro)
c.4393A>C (p.Thr1465Pro)
 gnomAD v4
17g.31259065A>GCA398998790NF1c.154A>G (p.Thr52Ala)
c.4348A>G (p.Thr1450Ala)
n.472A>G
c.357A>G
n.1011A>G
c.4396A>G (p.Thr1466Ala)
n.338A>G
c.4366A>G (p.Thr1456Ala)
c.4303A>G (p.Thr1435Ala)
c.3301A>G (p.Thr1101Ala)
c.882A>G
c.819A>G
n.2839A>G
c.4405A>G (p.Thr1469Ala)
c.4357A>G (p.Thr1453Ala)
c.4333A>G (p.Thr1445Ala)
c.4393A>G (p.Thr1465Ala)
 gnomAD v4
17g.31259065A>TCA398998789NF1c.154A>T (p.Thr52Ser)
c.4348A>T (p.Thr1450Ser)
n.472A>T
c.357A>T
n.1011A>T
c.4396A>T (p.Thr1466Ser)
n.338A>T
c.4366A>T (p.Thr1456Ser)
c.4303A>T (p.Thr1435Ser)
c.3301A>T (p.Thr1101Ser)
c.882A>T
c.819A>T
n.2839A>T
c.4405A>T (p.Thr1469Ser)
c.4357A>T (p.Thr1453Ser)
c.4333A>T (p.Thr1445Ser)
c.4393A>T (p.Thr1465Ser)
 dbSNP
17g.31259065_31259066delinsACCA2255574436NF1c.154_155delinsAC (p.Thr52=)
c.4348_4349delinsAC (p.Thr1450=)
n.472_473delinsAC
c.357_358delinsAC
n.1011_1012delinsAC
c.4396_4397delinsAC (p.Thr1466=)
n.338_339delinsAC
c.4366_4367delinsAC (p.Thr1456=)
c.4303_4304delinsAC (p.Thr1435=)
c.3301_3302delinsAC (p.Thr1101=)
c.882_883delinsAC
c.819_820delinsAC
n.2839_2840delinsAC
c.4405_4406delinsAC (p.Thr1469=)
c.4357_4358delinsAC (p.Thr1453=)
c.4333_4334delinsAC (p.Thr1445=)
c.4393_4394delinsAC (p.Thr1465=)
17g.31259066delCA2255574441NF1c.155del (p.Thr52LysfsTer13)
c.4349del (p.Thr1450LysfsTer13)
n.473del
c.358del
n.1012del
c.4397del (p.Thr1466LysfsTer13)
n.339del
c.4367del (p.Thr1456LysfsTer13)
c.4304del (p.Thr1435LysfsTer13)
c.3302del (p.Thr1101LysfsTer13)
c.883del
c.820del
n.2840del
c.4406del (p.Thr1469LysfsTer13)
c.4358del (p.Thr1453LysfsTer13)
c.4334del (p.Thr1445LysfsTer13)
c.4394del (p.Thr1465LysfsTer13)
 ClinVar dbSNP
17g.31259066C>ACA398998792NF1c.155C>A (p.Thr52Lys)
c.4349C>A (p.Thr1450Lys)
n.473C>A
c.358C>A
n.1012C>A
c.4397C>A (p.Thr1466Lys)
n.339C>A
c.4367C>A (p.Thr1456Lys)
c.4304C>A (p.Thr1435Lys)
c.3302C>A (p.Thr1101Lys)
c.883C>A
c.820C>A
n.2840C>A
c.4406C>A (p.Thr1469Lys)
c.4358C>A (p.Thr1453Lys)
c.4334C>A (p.Thr1445Lys)
c.4394C>A (p.Thr1465Lys)
 gnomAD v4
17g.31259066C>GCA398998795NF1c.155C>G (p.Thr52Arg)
c.4349C>G (p.Thr1450Arg)
n.473C>G
c.358C>G
n.1012C>G
c.4397C>G (p.Thr1466Arg)
n.339C>G
c.4367C>G (p.Thr1456Arg)
c.4304C>G (p.Thr1435Arg)
c.3302C>G (p.Thr1101Arg)
c.883C>G
c.820C>G
n.2840C>G
c.4406C>G (p.Thr1469Arg)
c.4358C>G (p.Thr1453Arg)
c.4334C>G (p.Thr1445Arg)
c.4394C>G (p.Thr1465Arg)
17g.31259066C>TCA398998794NF1c.155C>T (p.Thr52Ile)
c.4349C>T (p.Thr1450Ile)
n.473C>T
c.358C>T
n.1012C>T
c.4397C>T (p.Thr1466Ile)
n.339C>T
c.4367C>T (p.Thr1456Ile)
c.4304C>T (p.Thr1435Ile)
c.3302C>T (p.Thr1101Ile)
c.883C>T
c.820C>T
n.2840C>T
c.4406C>T (p.Thr1469Ile)
c.4358C>T (p.Thr1453Ile)
c.4334C>T (p.Thr1445Ile)
c.4394C>T (p.Thr1465Ile)
 ClinVar gnomAD v4
17g.31259066_31259069delinsCAAACA2255574443NF1c.155_158delinsCAAA (p.Thr52=)
c.4349_4352delinsCAAA (p.Thr1450=)
n.473_476delinsCAAA
c.358_361delinsCAAA
n.1012_1015delinsCAAA
c.4397_4400delinsCAAA (p.Thr1466=)
n.339_342delinsCAAA
c.4367_4370delinsCAAA (p.Thr1456=)
c.4304_4307delinsCAAA (p.Thr1435=)
c.3302_3305delinsCAAA (p.Thr1101=)
c.883_886delinsCAAA
c.820_823delinsCAAA
n.2840_2843delinsCAAA
c.4406_4409delinsCAAA (p.Thr1469=)
c.4358_4361delinsCAAA (p.Thr1453=)
c.4334_4337delinsCAAA (p.Thr1445=)
c.4394_4397delinsCAAA (p.Thr1465=)
17g.31259067A=CA2255574455NF1c.156A= (p.Thr52=)
c.4350A= (p.Thr1450=)
n.474A=
c.359A=
n.1013A=
c.4398A= (p.Thr1466=)
n.340A=
c.4368A= (p.Thr1456=)
c.4305A= (p.Thr1435=)
c.3303A= (p.Thr1101=)
c.884A=
c.821A=
n.2841A=
c.4407A= (p.Thr1469=)
c.4359A= (p.Thr1453=)
c.4335A= (p.Thr1445=)
c.4395A= (p.Thr1465=)
17g.31259067A>CCA499233594NF1c.156A>C (p.Thr52=)
c.4350A>C (p.Thr1450=)
n.474A>C
c.359A>C
n.1013A>C
c.4398A>C (p.Thr1466=)
n.340A>C
c.4368A>C (p.Thr1456=)
c.4305A>C (p.Thr1435=)
c.3303A>C (p.Thr1101=)
c.884A>C
c.821A>C
n.2841A>C
c.4407A>C (p.Thr1469=)
c.4359A>C (p.Thr1453=)
c.4335A>C (p.Thr1445=)
c.4395A>C (p.Thr1465=)
17g.31259067A>GCA499233595NF1c.156A>G (p.Thr52=)
c.4350A>G (p.Thr1450=)
n.474A>G
c.359A>G
n.1013A>G
c.4398A>G (p.Thr1466=)
n.340A>G
c.4368A>G (p.Thr1456=)
c.4305A>G (p.Thr1435=)
c.3303A>G (p.Thr1101=)
c.884A>G
c.821A>G
n.2841A>G
c.4407A>G (p.Thr1469=)
c.4359A>G (p.Thr1453=)
c.4335A>G (p.Thr1445=)
c.4395A>G (p.Thr1465=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31259067A>TCA10580312NF1c.156A>T (p.Thr52=)
c.4350A>T (p.Thr1450=)
n.474A>T
c.359A>T
n.1013A>T
c.4398A>T (p.Thr1466=)
n.340A>T
c.4368A>T (p.Thr1456=)
c.4305A>T (p.Thr1435=)
c.3303A>T (p.Thr1101=)
c.884A>T
c.821A>T
n.2841A>T
c.4407A>T (p.Thr1469=)
c.4359A>T (p.Thr1453=)
c.4335A>T (p.Thr1445=)
c.4395A>T (p.Thr1465=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31259070delCA2580617539NF1c.159del (p.Glu54LysfsTer11)
c.4353del (p.Glu1452LysfsTer11)
n.477del
c.362del
n.1016del
c.4401del (p.Glu1468LysfsTer11)
n.343del
c.4371del (p.Glu1458LysfsTer11)
c.4308del (p.Glu1437LysfsTer11)
c.3306del (p.Glu1103LysfsTer11)
c.887del
c.824del
n.2844del
c.4410del (p.Glu1471LysfsTer11)
c.4362del (p.Glu1455LysfsTer11)
c.4338del (p.Glu1447LysfsTer11)
c.4398del (p.Glu1467LysfsTer11)
 ClinVar gnomAD v4
17g.31259068_31259070delCA658824766NF1c.157_159del (p.Lys53del)
c.4351_4353del (p.Lys1451del)
n.475_477del
c.360_362del
n.1014_1016del
c.4399_4401del (p.Lys1467del)
n.341_343del
c.4369_4371del (p.Lys1457del)
c.4306_4308del (p.Lys1436del)
c.3304_3306del (p.Lys1102del)
c.885_887del
c.822_824del
n.2842_2844del
c.4408_4410del (p.Lys1470del)
c.4360_4362del (p.Lys1454del)
c.4336_4338del (p.Lys1446del)
c.4396_4398del (p.Lys1466del)
 ClinVar dbSNP
17g.31259069_31259073delCA2573153624NF1c.158_162del (p.Lys53ArgfsTer8)
c.4352_4356del (p.Lys1451ArgfsTer8)
n.476_480del
c.361_365del
n.1015_1019del
c.4400_4404del (p.Lys1467ArgfsTer8)
n.342_346del
c.4370_4374del (p.Lys1457ArgfsTer8)
c.4307_4311del (p.Lys1436ArgfsTer8)
c.3305_3309del (p.Lys1102ArgfsTer8)
c.886_890del
c.823_827del
n.2843_2847del
c.4409_4413del (p.Lys1470ArgfsTer8)
c.4361_4365del (p.Lys1454ArgfsTer8)
c.4337_4341del (p.Lys1446ArgfsTer8)
c.4397_4401del (p.Lys1466ArgfsTer8)
 ClinVar dbSNP
17g.31259068A=CA2255574462NF1c.157A= (p.Lys53=)
c.4351A= (p.Lys1451=)
n.475A=
c.360A=
n.1014A=
c.4399A= (p.Lys1467=)
n.341A=
c.4369A= (p.Lys1457=)
c.4306A= (p.Lys1436=)
c.3304A= (p.Lys1102=)
c.885A=
c.822A=
n.2842A=
c.4408A= (p.Lys1470=)
c.4360A= (p.Lys1454=)
c.4336A= (p.Lys1446=)
c.4396A= (p.Lys1466=)
17g.31259068A>CCA398998798NF1c.157A>C (p.Lys53Gln)
c.4351A>C (p.Lys1451Gln)
n.475A>C
c.360A>C
n.1014A>C
c.4399A>C (p.Lys1467Gln)
n.341A>C
c.4369A>C (p.Lys1457Gln)
c.4306A>C (p.Lys1436Gln)
c.3304A>C (p.Lys1102Gln)
c.885A>C
c.822A>C
n.2842A>C
c.4408A>C (p.Lys1470Gln)
c.4360A>C (p.Lys1454Gln)
c.4336A>C (p.Lys1446Gln)
c.4396A>C (p.Lys1466Gln)
 ClinVar dbSNP
17g.31259068A>GCA10583502NF1c.157A>G (p.Lys53Glu)
c.4351A>G (p.Lys1451Glu)
n.475A>G
c.360A>G
n.1014A>G
c.4399A>G (p.Lys1467Glu)
n.341A>G
c.4369A>G (p.Lys1457Glu)
c.4306A>G (p.Lys1436Glu)
c.3304A>G (p.Lys1102Glu)
c.885A>G
c.822A>G
n.2842A>G
c.4408A>G (p.Lys1470Glu)
c.4360A>G (p.Lys1454Glu)
c.4336A>G (p.Lys1446Glu)
c.4396A>G (p.Lys1466Glu)
 ClinVar dbSNP gnomAD v4
17g.31259068A>TCA398998800NF1c.157A>T (p.Lys53Ter)
c.4351A>T (p.Lys1451Ter)
n.475A>T
c.360A>T
n.1014A>T
c.4399A>T (p.Lys1467Ter)
n.341A>T
c.4369A>T (p.Lys1457Ter)
c.4306A>T (p.Lys1436Ter)
c.3304A>T (p.Lys1102Ter)
c.885A>T
c.822A>T
n.2842A>T
c.4408A>T (p.Lys1470Ter)
c.4360A>T (p.Lys1454Ter)
c.4336A>T (p.Lys1446Ter)
c.4396A>T (p.Lys1466Ter)
17g.31259068_31259071delinsAAAGCA2255574460NF1c.157_160delinsAAAG (p.Lys53=)
c.4351_4354delinsAAAG (p.Lys1451=)
n.475_478delinsAAAG
c.360_363delinsAAAG
n.1014_1017delinsAAAG
c.4399_4402delinsAAAG (p.Lys1467=)
n.341_344delinsAAAG
c.4369_4372delinsAAAG (p.Lys1457=)
c.4306_4309delinsAAAG (p.Lys1436=)
c.3304_3307delinsAAAG (p.Lys1102=)
c.885_888delinsAAAG
c.822_825delinsAAAG
n.2842_2845delinsAAAG
c.4408_4411delinsAAAG (p.Lys1470=)
c.4360_4363delinsAAAG (p.Lys1454=)
c.4336_4339delinsAAAG (p.Lys1446=)
c.4396_4399delinsAAAG (p.Lys1466=)
17g.31259069A=CA2255574472NF1c.158A= (p.Lys53=)
c.4352A= (p.Lys1451=)
n.476A=
c.361A=
n.1015A=
c.4400A= (p.Lys1467=)
n.342A=
c.4370A= (p.Lys1457=)
c.4307A= (p.Lys1436=)
c.3305A= (p.Lys1102=)
c.886A=
c.823A=
n.2843A=
c.4409A= (p.Lys1470=)
c.4361A= (p.Lys1454=)
c.4337A= (p.Lys1446=)
c.4397A= (p.Lys1466=)
17g.31259069A>CCA398998802NF1c.158A>C (p.Lys53Thr)
c.4352A>C (p.Lys1451Thr)
n.476A>C
c.361A>C
n.1015A>C
c.4400A>C (p.Lys1467Thr)
n.342A>C
c.4370A>C (p.Lys1457Thr)
c.4307A>C (p.Lys1436Thr)
c.3305A>C (p.Lys1102Thr)
c.886A>C
c.823A>C
n.2843A>C
c.4409A>C (p.Lys1470Thr)
c.4361A>C (p.Lys1454Thr)
c.4337A>C (p.Lys1446Thr)
c.4397A>C (p.Lys1466Thr)
17g.31259069A>GCA398998804NF1c.158A>G (p.Lys53Arg)
c.4352A>G (p.Lys1451Arg)
n.476A>G
c.361A>G
n.1015A>G
c.4400A>G (p.Lys1467Arg)
n.342A>G
c.4370A>G (p.Lys1457Arg)
c.4307A>G (p.Lys1436Arg)
c.3305A>G (p.Lys1102Arg)
c.886A>G
c.823A>G
n.2843A>G
c.4409A>G (p.Lys1470Arg)
c.4361A>G (p.Lys1454Arg)
c.4337A>G (p.Lys1446Arg)
c.4397A>G (p.Lys1466Arg)
 ClinVar dbSNP gnomAD v4
17g.31259069A>TCA398998806NF1c.158A>T (p.Lys53Ile)
c.4352A>T (p.Lys1451Ile)
n.476A>T
c.361A>T
n.1015A>T
c.4400A>T (p.Lys1467Ile)
n.342A>T
c.4370A>T (p.Lys1457Ile)
c.4307A>T (p.Lys1436Ile)
c.3305A>T (p.Lys1102Ile)
c.886A>T
c.823A>T
n.2843A>T
c.4409A>T (p.Lys1470Ile)
c.4361A>T (p.Lys1454Ile)
c.4337A>T (p.Lys1446Ile)
c.4397A>T (p.Lys1466Ile)
 ClinVar
17g.31259074_31259076delCA114191NF1c.163_165del (p.Glu55del)
c.4357_4359del (p.Glu1453del)
n.481_483del
c.366_368del
n.1020_1022del
c.4405_4407del (p.Glu1469del)
n.347_349del
c.4375_4377del (p.Glu1459del)
c.4312_4314del (p.Glu1438del)
c.3310_3312del (p.Glu1104del)
c.891_893del
c.828_830del
n.2848_2850del
c.4414_4416del (p.Glu1472del)
c.4366_4368del (p.Glu1456del)
c.4342_4344del (p.Glu1448del)
c.4402_4404del (p.Glu1468del)
 ClinVar dbSNP
17g.31259070A=CA2255574481NF1c.159A= (p.Lys53=)
c.4353A= (p.Lys1451=)
n.477A=
c.362A=
n.1016A=
c.4401A= (p.Lys1467=)
n.343A=
c.4371A= (p.Lys1457=)
c.4308A= (p.Lys1436=)
c.3306A= (p.Lys1102=)
c.887A=
c.824A=
n.2844A=
c.4410A= (p.Lys1470=)
c.4362A= (p.Lys1454=)
c.4338A= (p.Lys1446=)
c.4398A= (p.Lys1466=)
17g.31259070A>CCA398998807NF1c.159A>C (p.Lys53Asn)
c.4353A>C (p.Lys1451Asn)
n.477A>C
c.362A>C
n.1016A>C
c.4401A>C (p.Lys1467Asn)
n.343A>C
c.4371A>C (p.Lys1457Asn)
c.4308A>C (p.Lys1436Asn)
c.3306A>C (p.Lys1102Asn)
c.887A>C
c.824A>C
n.2844A>C
c.4410A>C (p.Lys1470Asn)
c.4362A>C (p.Lys1454Asn)
c.4338A>C (p.Lys1446Asn)
c.4398A>C (p.Lys1466Asn)
 ClinVar dbSNP
17g.31259070A>GCA499233596NF1c.159A>G (p.Lys53=)
c.4353A>G (p.Lys1451=)
n.477A>G
c.362A>G
n.1016A>G
c.4401A>G (p.Lys1467=)
n.343A>G
c.4371A>G (p.Lys1457=)
c.4308A>G (p.Lys1436=)
c.3306A>G (p.Lys1102=)
c.887A>G
c.824A>G
n.2844A>G
c.4410A>G (p.Lys1470=)
c.4362A>G (p.Lys1454=)
c.4338A>G (p.Lys1446=)
c.4398A>G (p.Lys1466=)
 ClinVar dbSNP gnomAD v4
17g.31259070A>TCA398998808NF1c.159A>T (p.Lys53Asn)
c.4353A>T (p.Lys1451Asn)
n.477A>T
c.362A>T
n.1016A>T
c.4401A>T (p.Lys1467Asn)
n.343A>T
c.4371A>T (p.Lys1457Asn)
c.4308A>T (p.Lys1436Asn)
c.3306A>T (p.Lys1102Asn)
c.887A>T
c.824A>T
n.2844A>T
c.4410A>T (p.Lys1470Asn)
c.4362A>T (p.Lys1454Asn)
c.4338A>T (p.Lys1446Asn)
c.4398A>T (p.Lys1466Asn)
 ClinVar dbSNP
17g.31259071G>ACA398998810NF1c.160G>A (p.Glu54Lys)
c.4354G>A (p.Glu1452Lys)
n.478G>A
c.363G>A
n.1017G>A
c.4402G>A (p.Glu1468Lys)
n.344G>A
c.4372G>A (p.Glu1458Lys)
c.4309G>A (p.Glu1437Lys)
c.3307G>A (p.Glu1103Lys)
c.888G>A
c.825G>A
n.2845G>A
c.4411G>A (p.Glu1471Lys)
c.4363G>A (p.Glu1455Lys)
c.4339G>A (p.Glu1447Lys)
c.4399G>A (p.Glu1467Lys)
 ClinVar dbSNP
17g.31259071G>CCA398998812NF1c.160G>C (p.Glu54Gln)
c.4354G>C (p.Glu1452Gln)
n.478G>C
c.363G>C
n.1017G>C
c.4402G>C (p.Glu1468Gln)
n.344G>C
c.4372G>C (p.Glu1458Gln)
c.4309G>C (p.Glu1437Gln)
c.3307G>C (p.Glu1103Gln)
c.888G>C
c.825G>C
n.2845G>C
c.4411G>C (p.Glu1471Gln)
c.4363G>C (p.Glu1455Gln)
c.4339G>C (p.Glu1447Gln)
c.4399G>C (p.Glu1467Gln)
 ClinVar dbSNP
17g.31259071G=CA2255574490NF1c.160G= (p.Glu54=)
c.4354G= (p.Glu1452=)
n.478G=
c.363G=
n.1017G=
c.4402G= (p.Glu1468=)
n.344G=
c.4372G= (p.Glu1458=)
c.4309G= (p.Glu1437=)
c.3307G= (p.Glu1103=)
c.888G=
c.825G=
n.2845G=
c.4411G= (p.Glu1471=)
c.4363G= (p.Glu1455=)
c.4339G= (p.Glu1447=)
c.4399G= (p.Glu1467=)
17g.31259071G>TCA398998813NF1c.160G>T (p.Glu54Ter)
c.4354G>T (p.Glu1452Ter)
n.478G>T
c.363G>T
n.1017G>T
c.4402G>T (p.Glu1468Ter)
n.344G>T
c.4372G>T (p.Glu1458Ter)
c.4309G>T (p.Glu1437Ter)
c.3307G>T (p.Glu1103Ter)
c.888G>T
c.825G>T
n.2845G>T
c.4411G>T (p.Glu1471Ter)
c.4363G>T (p.Glu1455Ter)
c.4339G>T (p.Glu1447Ter)
c.4399G>T (p.Glu1467Ter)
 ClinVar dbSNP
17g.31259071_31259079delCA2739267395NF1c.160_168del (p.Glu54_His56del)
c.4354_4362del (p.Glu1452_His1454del)
n.478_486del
c.363_371del
n.1017_1025del
c.4402_4410del (p.Glu1468_His1470del)
n.344_352del
c.4372_4380del (p.Glu1458_His1460del)
c.4309_4317del (p.Glu1437_His1439del)
c.3307_3315del (p.Glu1103_His1105del)
c.888_896del
c.825_833del
n.2845_2853del
c.4411_4419del (p.Glu1471_His1473del)
c.4363_4371del (p.Glu1455_His1457del)
c.4339_4347del (p.Glu1447_His1449del)
c.4399_4407del (p.Glu1467_His1469del)
 ClinVar
17g.31259072A=CA2255574498NF1c.161A= (p.Glu54=)
c.4355A= (p.Glu1452=)
n.479A=
c.364A=
n.1018A=
c.4403A= (p.Glu1468=)
n.345A=
c.4373A= (p.Glu1458=)
c.4310A= (p.Glu1437=)
c.3308A= (p.Glu1103=)
c.889A=
c.826A=
n.2846A=
c.4412A= (p.Glu1471=)
c.4364A= (p.Glu1455=)
c.4340A= (p.Glu1447=)
c.4400A= (p.Glu1467=)
17g.31259072A>CCA398998815NF1c.161A>C (p.Glu54Ala)
c.4355A>C (p.Glu1452Ala)
n.479A>C
c.364A>C
n.1018A>C
c.4403A>C (p.Glu1468Ala)
n.345A>C
c.4373A>C (p.Glu1458Ala)
c.4310A>C (p.Glu1437Ala)
c.3308A>C (p.Glu1103Ala)
c.889A>C
c.826A>C
n.2846A>C
c.4412A>C (p.Glu1471Ala)
c.4364A>C (p.Glu1455Ala)
c.4340A>C (p.Glu1447Ala)
c.4400A>C (p.Glu1467Ala)
17g.31259072A>GCA10583503NF1c.161A>G (p.Glu54Gly)
c.4355A>G (p.Glu1452Gly)
n.479A>G
c.364A>G
n.1018A>G
c.4403A>G (p.Glu1468Gly)
n.345A>G
c.4373A>G (p.Glu1458Gly)
c.4310A>G (p.Glu1437Gly)
c.3308A>G (p.Glu1103Gly)
c.889A>G
c.826A>G
n.2846A>G
c.4412A>G (p.Glu1471Gly)
c.4364A>G (p.Glu1455Gly)
c.4340A>G (p.Glu1447Gly)
c.4400A>G (p.Glu1467Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31259072A>TCA398998817NF1c.161A>T (p.Glu54Val)
c.4355A>T (p.Glu1452Val)
n.479A>T
c.364A>T
n.1018A>T
c.4403A>T (p.Glu1468Val)
n.345A>T
c.4373A>T (p.Glu1458Val)
c.4310A>T (p.Glu1437Val)
c.3308A>T (p.Glu1103Val)
c.889A>T
c.826A>T
n.2846A>T
c.4412A>T (p.Glu1471Val)
c.4364A>T (p.Glu1455Val)
c.4340A>T (p.Glu1447Val)
c.4400A>T (p.Glu1467Val)
 ClinVar
17g.31259072_31259073delCA645582454NF1c.161_162del (p.Glu54GlyfsTer8)
c.4355_4356del (p.Glu1452GlyfsTer8)
n.479_480del
c.364_365del
n.1018_1019del
c.4403_4404del (p.Glu1468GlyfsTer8)
n.345_346del
c.4373_4374del (p.Glu1458GlyfsTer8)
c.4310_4311del (p.Glu1437GlyfsTer8)
c.3308_3309del (p.Glu1103GlyfsTer8)
c.889_890del
c.826_827del
n.2846_2847del
c.4412_4413del (p.Glu1471GlyfsTer8)
c.4364_4365del (p.Glu1455GlyfsTer8)
c.4340_4341del (p.Glu1447GlyfsTer8)
c.4400_4401del (p.Glu1467GlyfsTer8)
 COSMIC COSMIC
17g.31259073_31259076delCA2695225678NF1c.162_165del (p.Glu54AspfsTer10)
c.4356_4359del (p.Glu1452AspfsTer10)
n.480_483del
c.365_368del
n.1019_1022del
c.4404_4407del (p.Glu1468AspfsTer10)
n.346_349del
c.4374_4377del (p.Glu1458AspfsTer10)
c.4311_4314del (p.Glu1437AspfsTer10)
c.3309_3312del (p.Glu1103AspfsTer10)
c.890_893del
c.827_830del
n.2847_2850del
c.4413_4416del (p.Glu1471AspfsTer10)
c.4365_4368del (p.Glu1455AspfsTer10)
c.4341_4344del (p.Glu1447AspfsTer10)
c.4401_4404del (p.Glu1467AspfsTer10)
17g.31259072_31259149delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAACA2499224132NF1c.161_218+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4355_4412+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
n.479_536+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.364_421+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
n.1018_1075+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4403_4460+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
n.345_422delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4373_4430+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4310_4367+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.3308_3365+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.889_946+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.826_883+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
n.2846_2903+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4412_4469+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4364_4421+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4340_4397+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
c.4400_4457+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
 ClinVar dbSNP
17g.31259073A=CA2255574503NF1c.162A= (p.Glu54=)
c.4356A= (p.Glu1452=)
n.480A=
c.365A=
n.1019A=
c.4404A= (p.Glu1468=)
n.346A=
c.4374A= (p.Glu1458=)
c.4311A= (p.Glu1437=)
c.3309A= (p.Glu1103=)
c.890A=
c.827A=
n.2847A=
c.4413A= (p.Glu1471=)
c.4365A= (p.Glu1455=)
c.4341A= (p.Glu1447=)
c.4401A= (p.Glu1467=)
17g.31259073A>CCA398998819NF1c.162A>C (p.Glu54Asp)
c.4356A>C (p.Glu1452Asp)
n.480A>C
c.365A>C
n.1019A>C
c.4404A>C (p.Glu1468Asp)
n.346A>C
c.4374A>C (p.Glu1458Asp)
c.4311A>C (p.Glu1437Asp)
c.3309A>C (p.Glu1103Asp)
c.890A>C
c.827A>C
n.2847A>C
c.4413A>C (p.Glu1471Asp)
c.4365A>C (p.Glu1455Asp)
c.4341A>C (p.Glu1447Asp)
c.4401A>C (p.Glu1467Asp)
 ClinVar
17g.31259073A>GCA499233597NF1c.162A>G (p.Glu54=)
c.4356A>G (p.Glu1452=)
n.480A>G
c.365A>G
n.1019A>G
c.4404A>G (p.Glu1468=)
n.346A>G
c.4374A>G (p.Glu1458=)
c.4311A>G (p.Glu1437=)
c.3309A>G (p.Glu1103=)
c.890A>G
c.827A>G
n.2847A>G
c.4413A>G (p.Glu1471=)
c.4365A>G (p.Glu1455=)
c.4341A>G (p.Glu1447=)
c.4401A>G (p.Glu1467=)
 ClinVar dbSNP gnomAD v4
17g.31259073A>TCA398998820NF1c.162A>T (p.Glu54Asp)
c.4356A>T (p.Glu1452Asp)
n.480A>T
c.365A>T
n.1019A>T
c.4404A>T (p.Glu1468Asp)
n.346A>T
c.4374A>T (p.Glu1458Asp)
c.4311A>T (p.Glu1437Asp)
c.3309A>T (p.Glu1103Asp)
c.890A>T
c.827A>T
n.2847A>T
c.4413A>T (p.Glu1471Asp)
c.4365A>T (p.Glu1455Asp)
c.4341A>T (p.Glu1447Asp)
c.4401A>T (p.Glu1467Asp)
 ClinVar dbSNP
17g.31259074delCA2695225679NF1c.163del (p.Glu55AsnfsTer10)
c.4357del (p.Glu1453AsnfsTer10)
n.481del
c.366del
n.1020del
c.4405del (p.Glu1469AsnfsTer10)
n.347del
c.4375del (p.Glu1459AsnfsTer10)
c.4312del (p.Glu1438AsnfsTer10)
c.3310del (p.Glu1104AsnfsTer10)
c.891del
c.828del
n.2848del
c.4414del (p.Glu1472AsnfsTer10)
c.4366del (p.Glu1456AsnfsTer10)
c.4342del (p.Glu1448AsnfsTer10)
c.4402del (p.Glu1468AsnfsTer10)
17g.31259074G>ACA398998826NF1c.163G>A (p.Glu55Lys)
c.4357G>A (p.Glu1453Lys)
n.481G>A
c.366G>A
n.1020G>A
c.4405G>A (p.Glu1469Lys)
n.347G>A
c.4375G>A (p.Glu1459Lys)
c.4312G>A (p.Glu1438Lys)
c.3310G>A (p.Glu1104Lys)
c.891G>A
c.828G>A
n.2848G>A
c.4414G>A (p.Glu1472Lys)
c.4366G>A (p.Glu1456Lys)
c.4342G>A (p.Glu1448Lys)
c.4402G>A (p.Glu1468Lys)
 dbSNP
17g.31259074G>CCA398998824NF1c.163G>C (p.Glu55Gln)
c.4357G>C (p.Glu1453Gln)
n.481G>C
c.366G>C
n.1020G>C
c.4405G>C (p.Glu1469Gln)
n.347G>C
c.4375G>C (p.Glu1459Gln)
c.4312G>C (p.Glu1438Gln)
c.3310G>C (p.Glu1104Gln)
c.891G>C
c.828G>C
n.2848G>C
c.4414G>C (p.Glu1472Gln)
c.4366G>C (p.Glu1456Gln)
c.4342G>C (p.Glu1448Gln)
c.4402G>C (p.Glu1468Gln)
 ClinVar dbSNP
17g.31259074G=CA2255574510NF1c.163G= (p.Glu55=)
c.4357G= (p.Glu1453=)
n.481G=
c.366G=
n.1020G=
c.4405G= (p.Glu1469=)
n.347G=
c.4375G= (p.Glu1459=)
c.4312G= (p.Glu1438=)
c.3310G= (p.Glu1104=)
c.891G=
c.828G=
n.2848G=
c.4414G= (p.Glu1472=)
c.4366G= (p.Glu1456=)
c.4342G= (p.Glu1448=)
c.4402G= (p.Glu1468=)
17g.31259074G>TCA398998822NF1c.163G>T (p.Glu55Ter)
c.4357G>T (p.Glu1453Ter)
n.481G>T
c.366G>T
n.1020G>T
c.4405G>T (p.Glu1469Ter)
n.347G>T
c.4375G>T (p.Glu1459Ter)
c.4312G>T (p.Glu1438Ter)
c.3310G>T (p.Glu1104Ter)
c.891G>T
c.828G>T
n.2848G>T
c.4414G>T (p.Glu1472Ter)
c.4366G>T (p.Glu1456Ter)
c.4342G>T (p.Glu1448Ter)
c.4402G>T (p.Glu1468Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31259075A>CCA398998827NF1c.164A>C (p.Glu55Ala)
c.4358A>C (p.Glu1453Ala)
n.482A>C
c.367A>C
n.1021A>C
c.4406A>C (p.Glu1469Ala)
n.348A>C
c.4376A>C (p.Glu1459Ala)
c.4313A>C (p.Glu1438Ala)
c.3311A>C (p.Glu1104Ala)
c.892A>C
c.829A>C
n.2849A>C
c.4415A>C (p.Glu1472Ala)
c.4367A>C (p.Glu1456Ala)
c.4343A>C (p.Glu1448Ala)
c.4403A>C (p.Glu1468Ala)
17g.31259075A>GCA398998828NF1c.164A>G (p.Glu55Gly)
c.4358A>G (p.Glu1453Gly)
n.482A>G
c.367A>G
n.1021A>G
c.4406A>G (p.Glu1469Gly)
n.348A>G
c.4376A>G (p.Glu1459Gly)
c.4313A>G (p.Glu1438Gly)
c.3311A>G (p.Glu1104Gly)
c.892A>G
c.829A>G
n.2849A>G
c.4415A>G (p.Glu1472Gly)
c.4367A>G (p.Glu1456Gly)
c.4343A>G (p.Glu1448Gly)
c.4403A>G (p.Glu1468Gly)
 gnomAD v4
17g.31259075A>TCA398998829NF1c.164A>T (p.Glu55Val)
c.4358A>T (p.Glu1453Val)
n.482A>T
c.367A>T
n.1021A>T
c.4406A>T (p.Glu1469Val)
n.348A>T
c.4376A>T (p.Glu1459Val)
c.4313A>T (p.Glu1438Val)
c.3311A>T (p.Glu1104Val)
c.892A>T
c.829A>T
n.2849A>T
c.4415A>T (p.Glu1472Val)
c.4367A>T (p.Glu1456Val)
c.4343A>T (p.Glu1448Val)
c.4403A>T (p.Glu1468Val)
17g.31259076A>CCA398998830NF1c.165A>C (p.Glu55Asp)
c.4359A>C (p.Glu1453Asp)
n.483A>C
c.368A>C
n.1022A>C
c.4407A>C (p.Glu1469Asp)
n.349A>C
c.4377A>C (p.Glu1459Asp)
c.4314A>C (p.Glu1438Asp)
c.3312A>C (p.Glu1104Asp)
c.893A>C
c.830A>C
n.2850A>C
c.4416A>C (p.Glu1472Asp)
c.4368A>C (p.Glu1456Asp)
c.4344A>C (p.Glu1448Asp)
c.4404A>C (p.Glu1468Asp)
17g.31259076A>GCA499233598NF1c.165A>G (p.Glu55=)
c.4359A>G (p.Glu1453=)
n.483A>G
c.368A>G
n.1022A>G
c.4407A>G (p.Glu1469=)
n.349A>G
c.4377A>G (p.Glu1459=)
c.4314A>G (p.Glu1438=)
c.3312A>G (p.Glu1104=)
c.893A>G
c.830A>G
n.2850A>G
c.4416A>G (p.Glu1472=)
c.4368A>G (p.Glu1456=)
c.4344A>G (p.Glu1448=)
c.4404A>G (p.Glu1468=)
 dbSNP COSMIC COSMIC
17g.31259076A>TCA398998832NF1c.165A>T (p.Glu55Asp)
c.4359A>T (p.Glu1453Asp)
n.483A>T
c.368A>T
n.1022A>T
c.4407A>T (p.Glu1469Asp)
n.349A>T
c.4377A>T (p.Glu1459Asp)
c.4314A>T (p.Glu1438Asp)
c.3312A>T (p.Glu1104Asp)
c.893A>T
c.830A>T
n.2850A>T
c.4416A>T (p.Glu1472Asp)
c.4368A>T (p.Glu1456Asp)
c.4344A>T (p.Glu1448Asp)
c.4404A>T (p.Glu1468Asp)
 dbSNP
17g.31259077_31259078dupCA2739290935NF1c.166_167dup (p.Met57IlefsTer9)
c.4360_4361dup (p.Met1455IlefsTer9)
n.484_485dup
c.369_370dup
n.1023_1024dup
c.4408_4409dup (p.Met1471IlefsTer9)
n.350_351dup
c.4378_4379dup (p.Met1461IlefsTer9)
c.4315_4316dup (p.Met1440IlefsTer9)
c.3313_3314dup (p.Met1106IlefsTer9)
c.894_895dup
c.831_832dup
n.2851_2852dup
c.4417_4418dup (p.Met1474IlefsTer9)
c.4369_4370dup (p.Met1458IlefsTer9)
c.4345_4346dup (p.Met1450IlefsTer9)
c.4405_4406dup (p.Met1470IlefsTer9)
17g.31259077C>ACA398998833NF1c.166C>A (p.His56Asn)
c.4360C>A (p.His1454Asn)
n.484C>A
c.369C>A
n.1023C>A
c.4408C>A (p.His1470Asn)
n.350C>A
c.4378C>A (p.His1460Asn)
c.4315C>A (p.His1439Asn)
c.3313C>A (p.His1105Asn)
c.894C>A
c.831C>A
n.2851C>A
c.4417C>A (p.His1473Asn)
c.4369C>A (p.His1457Asn)
c.4345C>A (p.His1449Asn)
c.4405C>A (p.His1469Asn)
 ClinVar dbSNP gnomAD v4
17g.31259077C=CA2255574520NF1c.166C= (p.His56=)
c.4360C= (p.His1454=)
n.484C=
c.369C=
n.1023C=
c.4408C= (p.His1470=)
n.350C=
c.4378C= (p.His1460=)
c.4315C= (p.His1439=)
c.3313C= (p.His1105=)
c.894C=
c.831C=
n.2851C=
c.4417C= (p.His1473=)
c.4369C= (p.His1457=)
c.4345C= (p.His1449=)
c.4405C= (p.His1469=)
17g.31259077C>GCA398998835NF1c.166C>G (p.His56Asp)
c.4360C>G (p.His1454Asp)
n.484C>G
c.369C>G
n.1023C>G
c.4408C>G (p.His1470Asp)
n.350C>G
c.4378C>G (p.His1460Asp)
c.4315C>G (p.His1439Asp)
c.3313C>G (p.His1105Asp)
c.894C>G
c.831C>G
n.2851C>G
c.4417C>G (p.His1473Asp)
c.4369C>G (p.His1457Asp)
c.4345C>G (p.His1449Asp)
c.4405C>G (p.His1469Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31259077C>TCA8486400NF1c.166C>T (p.His56Tyr)
c.4360C>T (p.His1454Tyr)
n.484C>T
c.369C>T
n.1023C>T
c.4408C>T (p.His1470Tyr)
n.350C>T
c.4378C>T (p.His1460Tyr)
c.4315C>T (p.His1439Tyr)
c.3313C>T (p.His1105Tyr)
c.894C>T
c.831C>T
n.2851C>T
c.4417C>T (p.His1473Tyr)
c.4369C>T (p.His1457Tyr)
c.4345C>T (p.His1449Tyr)
c.4405C>T (p.His1469Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31259077dupCA2695225680NF1c.166dup (p.His56ProfsTer7)
c.4360dup (p.His1454ProfsTer7)
n.484dup
c.369dup
n.1023dup
c.4408dup (p.His1470ProfsTer7)
n.350dup
c.4378dup (p.His1460ProfsTer7)
c.4315dup (p.His1439ProfsTer7)
c.3313dup (p.His1105ProfsTer7)
c.894dup
c.831dup
n.2851dup
c.4417dup (p.His1473ProfsTer7)
c.4369dup (p.His1457ProfsTer7)
c.4345dup (p.His1449ProfsTer7)
c.4405dup (p.His1469ProfsTer7)
17g.31259078A=CA2255574537NF1c.167A= (p.His56=)
c.4361A= (p.His1454=)
n.485A=
c.370A=
n.1024A=
c.4409A= (p.His1470=)
n.351A=
c.4379A= (p.His1460=)
c.4316A= (p.His1439=)
c.3314A= (p.His1105=)
c.895A=
c.832A=
n.2852A=
c.4418A= (p.His1473=)
c.4370A= (p.His1457=)
c.4346A= (p.His1449=)
c.4406A= (p.His1469=)
17g.31259078A>CCA398998837NF1c.167A>C (p.His56Pro)
c.4361A>C (p.His1454Pro)
n.485A>C
c.370A>C
n.1024A>C
c.4409A>C (p.His1470Pro)
n.351A>C
c.4379A>C (p.His1460Pro)
c.4316A>C (p.His1439Pro)
c.3314A>C (p.His1105Pro)
c.895A>C
c.832A>C
n.2852A>C
c.4418A>C (p.His1473Pro)
c.4370A>C (p.His1457Pro)
c.4346A>C (p.His1449Pro)
c.4406A>C (p.His1469Pro)
17g.31259078A>GCA8486401NF1c.167A>G (p.His56Arg)
c.4361A>G (p.His1454Arg)
n.485A>G
c.370A>G
n.1024A>G
c.4409A>G (p.His1470Arg)
n.351A>G
c.4379A>G (p.His1460Arg)
c.4316A>G (p.His1439Arg)
c.3314A>G (p.His1105Arg)
c.895A>G
c.832A>G
n.2852A>G
c.4418A>G (p.His1473Arg)
c.4370A>G (p.His1457Arg)
c.4346A>G (p.His1449Arg)
c.4406A>G (p.His1469Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31259078A>TCA398998838NF1c.167A>T (p.His56Leu)
c.4361A>T (p.His1454Leu)
n.485A>T
c.370A>T
n.1024A>T
c.4409A>T (p.His1470Leu)
n.351A>T
c.4379A>T (p.His1460Leu)
c.4316A>T (p.His1439Leu)
c.3314A>T (p.His1105Leu)
c.895A>T
c.832A>T
n.2852A>T
c.4418A>T (p.His1473Leu)
c.4370A>T (p.His1457Leu)
c.4346A>T (p.His1449Leu)
c.4406A>T (p.His1469Leu)
 ClinVar dbSNP
17g.31259080_31259081dupCA645372622NF1c.169_170dup (p.Met57IlefsTer9)
c.4363_4364dup (p.Met1455IlefsTer9)
n.487_488dup
c.372_373dup
n.1026_1027dup
c.4411_4412dup (p.Met1471IlefsTer9)
n.353_354dup
c.4381_4382dup (p.Met1461IlefsTer9)
c.4318_4319dup (p.Met1440IlefsTer9)
c.3316_3317dup (p.Met1106IlefsTer9)
c.897_898dup
c.834_835dup
n.2854_2855dup
c.4420_4421dup (p.Met1474IlefsTer9)
c.4372_4373dup (p.Met1458IlefsTer9)
c.4348_4349dup (p.Met1450IlefsTer9)
c.4408_4409dup (p.Met1470IlefsTer9)
 ClinVar dbSNP
17g.31259079T>ACA398998840NF1c.168T>A (p.His56Gln)
c.4362T>A (p.His1454Gln)
n.486T>A
c.371T>A
n.1025T>A
c.4410T>A (p.His1470Gln)
n.352T>A
c.4380T>A (p.His1460Gln)
c.4317T>A (p.His1439Gln)
c.3315T>A (p.His1105Gln)
c.896T>A
c.833T>A
n.2853T>A
c.4419T>A (p.His1473Gln)
c.4371T>A (p.His1457Gln)
c.4347T>A (p.His1449Gln)
c.4407T>A (p.His1469Gln)
 dbSNP
17g.31259079T>CCA499233599NF1c.168T>C (p.His56=)
c.4362T>C (p.His1454=)
n.486T>C
c.371T>C
n.1025T>C
c.4410T>C (p.His1470=)
n.352T>C
c.4380T>C (p.His1460=)
c.4317T>C (p.His1439=)
c.3315T>C (p.His1105=)
c.896T>C
c.833T>C
n.2853T>C
c.4419T>C (p.His1473=)
c.4371T>C (p.His1457=)
c.4347T>C (p.His1449=)
c.4407T>C (p.His1469=)
 ClinVar dbSNP
17g.31259079T>GCA398998842NF1c.168T>G (p.His56Gln)
c.4362T>G (p.His1454Gln)
n.486T>G
c.371T>G
n.1025T>G
c.4410T>G (p.His1470Gln)
n.352T>G
c.4380T>G (p.His1460Gln)
c.4317T>G (p.His1439Gln)
c.3315T>G (p.His1105Gln)
c.896T>G
c.833T>G
n.2853T>G
c.4419T>G (p.His1473Gln)
c.4371T>G (p.His1457Gln)
c.4347T>G (p.His1449Gln)
c.4407T>G (p.His1469Gln)
17g.31259079T=CA2255574548NF1c.168T= (p.His56=)
c.4362T= (p.His1454=)
n.486T=
c.371T=
n.1025T=
c.4410T= (p.His1470=)
n.352T=
c.4380T= (p.His1460=)
c.4317T= (p.His1439=)
c.3315T= (p.His1105=)
c.896T=
c.833T=
n.2853T=
c.4419T= (p.His1473=)
c.4371T= (p.His1457=)
c.4347T= (p.His1449=)
c.4407T= (p.His1469=)
17g.31259079dupCA10603295NF1c.168dup (p.Met57TyrfsTer6)
c.4362dup (p.Met1455TyrfsTer6)
n.486dup
c.371dup
n.1025dup
c.4410dup (p.Met1471TyrfsTer6)
n.352dup
c.4380dup (p.Met1461TyrfsTer6)
c.4317dup (p.Met1440TyrfsTer6)
c.3315dup (p.Met1106TyrfsTer6)
c.896dup
c.833dup
n.2853dup
c.4419dup (p.Met1474TyrfsTer6)
c.4371dup (p.Met1458TyrfsTer6)
c.4347dup (p.Met1450TyrfsTer6)
c.4407dup (p.Met1470TyrfsTer6)
 ClinVar dbSNP
17g.31259080A=CA2255574555NF1c.169A= (p.Met57=)
c.4363A= (p.Met1455=)
n.487A=
c.372A=
n.1026A=
c.4411A= (p.Met1471=)
n.353A=
c.4381A= (p.Met1461=)
c.4318A= (p.Met1440=)
c.3316A= (p.Met1106=)
c.897A=
c.834A=
n.2854A=
c.4420A= (p.Met1474=)
c.4372A= (p.Met1458=)
c.4348A= (p.Met1450=)
c.4408A= (p.Met1470=)
17g.31259080A>CCA398998844NF1c.169A>C (p.Met57Leu)
c.4363A>C (p.Met1455Leu)
n.487A>C
c.372A>C
n.1026A>C
c.4411A>C (p.Met1471Leu)
n.353A>C
c.4381A>C (p.Met1461Leu)
c.4318A>C (p.Met1440Leu)
c.3316A>C (p.Met1106Leu)
c.897A>C
c.834A>C
n.2854A>C
c.4420A>C (p.Met1474Leu)
c.4372A>C (p.Met1458Leu)
c.4348A>C (p.Met1450Leu)
c.4408A>C (p.Met1470Leu)
 ClinVar
17g.31259080A>GCA398998845NF1c.169A>G (p.Met57Val)
c.4363A>G (p.Met1455Val)
n.487A>G
c.372A>G
n.1026A>G
c.4411A>G (p.Met1471Val)
n.353A>G
c.4381A>G (p.Met1461Val)
c.4318A>G (p.Met1440Val)
c.3316A>G (p.Met1106Val)
c.897A>G
c.834A>G
n.2854A>G
c.4420A>G (p.Met1474Val)
c.4372A>G (p.Met1458Val)
c.4348A>G (p.Met1450Val)
c.4408A>G (p.Met1470Val)
 ClinVar dbSNP gnomAD v4
17g.31259080A>TCA398998847NF1c.169A>T (p.Met57Leu)
c.4363A>T (p.Met1455Leu)
n.487A>T
c.372A>T
n.1026A>T
c.4411A>T (p.Met1471Leu)
n.353A>T
c.4381A>T (p.Met1461Leu)
c.4318A>T (p.Met1440Leu)
c.3316A>T (p.Met1106Leu)
c.897A>T
c.834A>T
n.2854A>T
c.4420A>T (p.Met1474Leu)
c.4372A>T (p.Met1458Leu)
c.4348A>T (p.Met1450Leu)
c.4408A>T (p.Met1470Leu)
 ClinVar dbSNP
17g.31259080dupCA915949648NF1c.169dup (p.Met57AsnfsTer6)
c.4363dup (p.Met1455AsnfsTer6)
n.487dup
c.372dup
n.1026dup
c.4411dup (p.Met1471AsnfsTer6)
n.353dup
c.4381dup (p.Met1461AsnfsTer6)
c.4318dup (p.Met1440AsnfsTer6)
c.3316dup (p.Met1106AsnfsTer6)
c.897dup
c.834dup
n.2854dup
c.4420dup (p.Met1474AsnfsTer6)
c.4372dup (p.Met1458AsnfsTer6)
c.4348dup (p.Met1450AsnfsTer6)
c.4408dup (p.Met1470AsnfsTer6)
 ClinVar dbSNP
17g.31259081T>ACA398998849NF1c.170T>A (p.Met57Lys)
c.4364T>A (p.Met1455Lys)
n.488T>A
c.373T>A
n.1027T>A
c.4412T>A (p.Met1471Lys)
n.354T>A
c.4382T>A (p.Met1461Lys)
c.4319T>A (p.Met1440Lys)
c.3317T>A (p.Met1106Lys)
c.898T>A
c.835T>A
n.2855T>A
c.4421T>A (p.Met1474Lys)
c.4373T>A (p.Met1458Lys)
c.4349T>A (p.Met1450Lys)
c.4409T>A (p.Met1470Lys)
 ClinVar dbSNP
17g.31259081T>CCA8486402NF1c.170T>C (p.Met57Thr)
c.4364T>C (p.Met1455Thr)
n.488T>C
c.373T>C
n.1027T>C
c.4412T>C (p.Met1471Thr)
n.354T>C
c.4382T>C (p.Met1461Thr)
c.4319T>C (p.Met1440Thr)
c.3317T>C (p.Met1106Thr)
c.898T>C
c.835T>C
n.2855T>C
c.4421T>C (p.Met1474Thr)
c.4373T>C (p.Met1458Thr)
c.4349T>C (p.Met1450Thr)
c.4409T>C (p.Met1470Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31259081T>GCA398998851NF1c.170T>G (p.Met57Arg)
c.4364T>G (p.Met1455Arg)
n.488T>G
c.373T>G
n.1027T>G
c.4412T>G (p.Met1471Arg)
n.354T>G
c.4382T>G (p.Met1461Arg)
c.4319T>G (p.Met1440Arg)
c.3317T>G (p.Met1106Arg)
c.898T>G
c.835T>G
n.2855T>G
c.4421T>G (p.Met1474Arg)
c.4373T>G (p.Met1458Arg)
c.4349T>G (p.Met1450Arg)
c.4409T>G (p.Met1470Arg)
 ClinVar dbSNP gnomAD v4
17g.31259081T=CA2255574560NF1c.170T= (p.Met57=)
c.4364T= (p.Met1455=)
n.488T=
c.373T=
n.1027T=
c.4412T= (p.Met1471=)
n.354T=
c.4382T= (p.Met1461=)
c.4319T= (p.Met1440=)
c.3317T= (p.Met1106=)
c.898T=
c.835T=
n.2855T=
c.4421T= (p.Met1474=)
c.4373T= (p.Met1458=)
c.4349T= (p.Met1450=)
c.4409T= (p.Met1470=)
17g.31259081_31259083delinsCGTCA2695225681NF1c.170_172delinsCGT (p.Met57_Arg58delinsThrTrp)
c.4364_4366delinsCGT (p.Met1455_Arg1456delinsThrTrp)
n.488_490delinsCGT
c.373_375delinsCGT
n.1027_1029delinsCGT
c.4412_4414delinsCGT (p.Met1471_Arg1472delinsThrTrp)
n.354_356delinsCGT
c.4382_4384delinsCGT (p.Met1461_Arg1462delinsThrTrp)
c.4319_4321delinsCGT (p.Met1440_Arg1441delinsThrTrp)
c.3317_3319delinsCGT (p.Met1106_Arg1107delinsThrTrp)
c.898_900delinsCGT
c.835_837delinsCGT
n.2855_2857delinsCGT
c.4421_4423delinsCGT (p.Met1474_Arg1475delinsThrTrp)
c.4373_4375delinsCGT (p.Met1458_Arg1459delinsThrTrp)
c.4349_4351delinsCGT (p.Met1450_Arg1451delinsThrTrp)
c.4409_4411delinsCGT (p.Met1470_Arg1471delinsThrTrp)
17g.31259081_31259084dupCA2809191382NF1c.170_173dup (p.Pro59AlafsTer5)
c.4364_4367dup (p.Pro1457AlafsTer5)
n.488_491dup
c.373_376dup
n.1027_1030dup
c.4412_4415dup (p.Pro1473AlafsTer5)
n.354_357dup
c.4382_4385dup (p.Pro1463AlafsTer5)
c.4319_4322dup (p.Pro1442AlafsTer5)
c.3317_3320dup (p.Pro1108AlafsTer5)
c.898_901dup
c.835_838dup
n.2855_2858dup
c.4421_4424dup (p.Pro1476AlafsTer5)
c.4373_4376dup (p.Pro1460AlafsTer5)
c.4349_4352dup (p.Pro1452AlafsTer5)
c.4409_4412dup (p.Pro1472AlafsTer5)
17g.31259082G>ACA398998852NF1c.171G>A (p.Met57Ile)
c.4365G>A (p.Met1455Ile)
n.489G>A
c.374G>A
n.1028G>A
c.4413G>A (p.Met1471Ile)
n.355G>A
c.4383G>A (p.Met1461Ile)
c.4320G>A (p.Met1440Ile)
c.3318G>A (p.Met1106Ile)
c.899G>A
c.836G>A
n.2856G>A
c.4422G>A (p.Met1474Ile)
c.4374G>A (p.Met1458Ile)
c.4350G>A (p.Met1450Ile)
c.4410G>A (p.Met1470Ile)
 ClinVar dbSNP gnomAD v4
17g.31259082G>CCA398998854NF1c.171G>C (p.Met57Ile)
c.4365G>C (p.Met1455Ile)
n.489G>C
c.374G>C
n.1028G>C
c.4413G>C (p.Met1471Ile)
n.355G>C
c.4383G>C (p.Met1461Ile)
c.4320G>C (p.Met1440Ile)
c.3318G>C (p.Met1106Ile)
c.899G>C
c.836G>C
n.2856G>C
c.4422G>C (p.Met1474Ile)
c.4374G>C (p.Met1458Ile)
c.4350G>C (p.Met1450Ile)
c.4410G>C (p.Met1470Ile)
 dbSNP
17g.31259082G=CA2255574561NF1c.171G= (p.Met57=)
c.4365G= (p.Met1455=)
n.489G=
c.374G=
n.1028G=
c.4413G= (p.Met1471=)
n.355G=
c.4383G= (p.Met1461=)
c.4320G= (p.Met1440=)
c.3318G= (p.Met1106=)
c.899G=
c.836G=
n.2856G=
c.4422G= (p.Met1474=)
c.4374G= (p.Met1458=)
c.4350G= (p.Met1450=)
c.4410G= (p.Met1470=)
17g.31259082G>TCA398998855NF1c.171G>T (p.Met57Ile)
c.4365G>T (p.Met1455Ile)
n.489G>T
c.374G>T
n.1028G>T
c.4413G>T (p.Met1471Ile)
n.355G>T
c.4383G>T (p.Met1461Ile)
c.4320G>T (p.Met1440Ile)
c.3318G>T (p.Met1106Ile)
c.899G>T
c.836G>T
n.2856G>T
c.4422G>T (p.Met1474Ile)
c.4374G>T (p.Met1458Ile)
c.4350G>T (p.Met1450Ile)
c.4410G>T (p.Met1470Ile)
17g.31259084_31259086dupCA728051758NF1c.173_175dup (p.Arg58_Pro59insArg)
c.4367_4369dup (p.Arg1456_Pro1457insArg)
n.491_493dup
c.376_378dup
n.1030_1032dup
c.4415_4417dup (p.Arg1472_Pro1473insArg)
n.357_359dup
c.4385_4387dup (p.Arg1462_Pro1463insArg)
c.4322_4324dup (p.Arg1441_Pro1442insArg)
c.3320_3322dup (p.Arg1107_Pro1108insArg)
c.901_903dup
c.838_840dup
n.2858_2860dup
c.4424_4426dup (p.Arg1475_Pro1476insArg)
c.4376_4378dup (p.Arg1459_Pro1460insArg)
c.4352_4354dup (p.Arg1451_Pro1452insArg)
c.4412_4414dup (p.Arg1471_Pro1472insArg)
 dbSNP
17g.31259083C>ACA10580313NF1c.172C>A (p.Arg58=)
c.4366C>A (p.Arg1456=)
n.490C>A
c.375C>A
n.1029C>A
c.4414C>A (p.Arg1472=)
n.356C>A
c.4384C>A (p.Arg1462=)
c.4321C>A (p.Arg1441=)
c.3319C>A (p.Arg1107=)
c.900C>A
c.837C>A
n.2857C>A
c.4423C>A (p.Arg1475=)
c.4375C>A (p.Arg1459=)
c.4351C>A (p.Arg1451=)
c.4411C>A (p.Arg1471=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31259083C=CA2255574563NF1c.172C= (p.Arg58=)
c.4366C= (p.Arg1456=)
n.490C=
c.375C=
n.1029C=
c.4414C= (p.Arg1472=)
n.356C=
c.4384C= (p.Arg1462=)
c.4321C= (p.Arg1441=)
c.3319C= (p.Arg1107=)
c.900C=
c.837C=
n.2857C=
c.4423C= (p.Arg1475=)
c.4375C= (p.Arg1459=)
c.4351C= (p.Arg1451=)
c.4411C= (p.Arg1471=)
17g.31259083C>GCA398998858NF1c.172C>G (p.Arg58Gly)
c.4366C>G (p.Arg1456Gly)
n.490C>G
c.375C>G
n.1029C>G
c.4414C>G (p.Arg1472Gly)
n.356C>G
c.4384C>G (p.Arg1462Gly)
c.4321C>G (p.Arg1441Gly)
c.3319C>G (p.Arg1107Gly)
c.900C>G
c.837C>G
n.2857C>G
c.4423C>G (p.Arg1475Gly)
c.4375C>G (p.Arg1459Gly)
c.4351C>G (p.Arg1451Gly)
c.4411C>G (p.Arg1471Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.31259083C>TCA16615639NF1c.172C>T (p.Arg58Trp)
c.4366C>T (p.Arg1456Trp)
n.490C>T
c.375C>T
n.1029C>T
c.4414C>T (p.Arg1472Trp)
n.356C>T
c.4384C>T (p.Arg1462Trp)
c.4321C>T (p.Arg1441Trp)
c.3319C>T (p.Arg1107Trp)
c.900C>T
c.837C>T
n.2857C>T
c.4423C>T (p.Arg1475Trp)
c.4375C>T (p.Arg1459Trp)
c.4351C>T (p.Arg1451Trp)
c.4411C>T (p.Arg1471Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.31259084G>ACA197155NF1c.173G>A (p.Arg58Gln)
c.4367G>A (p.Arg1456Gln)
n.491G>A
c.376G>A
n.1030G>A
c.4415G>A (p.Arg1472Gln)
n.357G>A
c.4385G>A (p.Arg1462Gln)
c.4322G>A (p.Arg1441Gln)
c.3320G>A (p.Arg1107Gln)
c.901G>A
c.838G>A
n.2858G>A
c.4424G>A (p.Arg1475Gln)
c.4376G>A (p.Arg1459Gln)
c.4352G>A (p.Arg1451Gln)
c.4412G>A (p.Arg1471Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31259084G>CCA398998860NF1c.173G>C (p.Arg58Pro)
c.4367G>C (p.Arg1456Pro)
n.491G>C
c.376G>C
n.1030G>C
c.4415G>C (p.Arg1472Pro)
n.357G>C
c.4385G>C (p.Arg1462Pro)
c.4322G>C (p.Arg1441Pro)
c.3320G>C (p.Arg1107Pro)
c.901G>C
c.838G>C
n.2858G>C
c.4424G>C (p.Arg1475Pro)
c.4376G>C (p.Arg1459Pro)
c.4352G>C (p.Arg1451Pro)
c.4412G>C (p.Arg1471Pro)
 dbSNP
17g.31259084G=CA2255574565NF1c.173G= (p.Arg58=)
c.4367G= (p.Arg1456=)
n.491G=
c.376G=
n.1030G=
c.4415G= (p.Arg1472=)
n.357G=
c.4385G= (p.Arg1462=)
c.4322G= (p.Arg1441=)
c.3320G= (p.Arg1107=)
c.901G=
c.838G=
n.2858G=
c.4424G= (p.Arg1475=)
c.4376G= (p.Arg1459=)
c.4352G= (p.Arg1451=)
c.4412G= (p.Arg1471=)
17g.31259084G>TCA398998862NF1c.173G>T (p.Arg58Leu)
c.4367G>T (p.Arg1456Leu)
n.491G>T
c.376G>T
n.1030G>T
c.4415G>T (p.Arg1472Leu)
n.357G>T
c.4385G>T (p.Arg1462Leu)
c.4322G>T (p.Arg1441Leu)
c.3320G>T (p.Arg1107Leu)
c.901G>T
c.838G>T
n.2858G>T
c.4424G>T (p.Arg1475Leu)
c.4376G>T (p.Arg1459Leu)
c.4352G>T (p.Arg1451Leu)
c.4412G>T (p.Arg1471Leu)
 dbSNP
17g.31259084_31259099dupCA2580093033NF1c.173_188dup (p.Phe63LeufsTer5)
c.4367_4382dup (p.Phe1461LeufsTer5)
n.491_506dup
c.376_391dup
n.1030_1045dup
c.4415_4430dup (p.Phe1477LeufsTer5)
n.357_372dup
c.4385_4400dup (p.Phe1467LeufsTer5)
c.4322_4337dup (p.Phe1446LeufsTer5)
c.3320_3335dup (p.Phe1112LeufsTer5)
c.901_916dup
c.838_853dup
n.2858_2873dup
c.4424_4439dup (p.Phe1480LeufsTer5)
c.4376_4391dup (p.Phe1464LeufsTer5)
c.4352_4367dup (p.Phe1456LeufsTer5)
c.4412_4427dup (p.Phe1476LeufsTer5)
 ClinVar
17g.31259085G>ACA499233600NF1c.174G>A (p.Arg58=)
c.4368G>A (p.Arg1456=)
n.492G>A
c.377G>A
n.1031G>A
c.4416G>A (p.Arg1472=)
n.358G>A
c.4386G>A (p.Arg1462=)
c.4323G>A (p.Arg1441=)
c.3321G>A (p.Arg1107=)
c.902G>A
c.839G>A
n.2859G>A
c.4425G>A (p.Arg1475=)
c.4377G>A (p.Arg1459=)
c.4353G>A (p.Arg1451=)
c.4413G>A (p.Arg1471=)
 dbSNP gnomAD v4
17g.31259085G>CCA499233602NF1c.174G>C (p.Arg58=)
c.4368G>C (p.Arg1456=)
n.492G>C
c.377G>C
n.1031G>C
c.4416G>C (p.Arg1472=)
n.358G>C
c.4386G>C (p.Arg1462=)
c.4323G>C (p.Arg1441=)
c.3321G>C (p.Arg1107=)
c.902G>C
c.839G>C
n.2859G>C
c.4425G>C (p.Arg1475=)
c.4377G>C (p.Arg1459=)
c.4353G>C (p.Arg1451=)
c.4413G>C (p.Arg1471=)
 dbSNP
17g.31259085G>TCA499233601NF1c.174G>T (p.Arg58=)
c.4368G>T (p.Arg1456=)
n.492G>T
c.377G>T
n.1031G>T
c.4416G>T (p.Arg1472=)
n.358G>T
c.4386G>T (p.Arg1462=)
c.4323G>T (p.Arg1441=)
c.3321G>T (p.Arg1107=)
c.902G>T
c.839G>T
n.2859G>T
c.4425G>T (p.Arg1475=)
c.4377G>T (p.Arg1459=)
c.4353G>T (p.Arg1451=)
c.4413G>T (p.Arg1471=)
17g.31259085_31259086insGCCA2695225683NF1c.174_175insGC (p.Pro59AlafsTer7)
c.4368_4369insGC (p.Pro1457AlafsTer7)
n.492_493insGC
c.377_378insGC
n.1031_1032insGC
c.4416_4417insGC (p.Pro1473AlafsTer7)
n.358_359insGC
c.4386_4387insGC (p.Pro1463AlafsTer7)
c.4323_4324insGC (p.Pro1442AlafsTer7)
c.3321_3322insGC (p.Pro1108AlafsTer7)
c.902_903insGC
c.839_840insGC
n.2859_2860insGC
c.4425_4426insGC (p.Pro1476AlafsTer7)
c.4377_4378insGC (p.Pro1460AlafsTer7)
c.4353_4354insGC (p.Pro1452AlafsTer7)
c.4413_4414insGC (p.Pro1472AlafsTer7)
17g.31259086C>ACA398998864NF1c.175C>A (p.Pro59Thr)
c.4369C>A (p.Pro1457Thr)
n.493C>A
c.378C>A
n.1032C>A
c.4417C>A (p.Pro1473Thr)
n.359C>A
c.4387C>A (p.Pro1463Thr)
c.4324C>A (p.Pro1442Thr)
c.3322C>A (p.Pro1108Thr)
c.903C>A
c.840C>A
n.2860C>A
c.4426C>A (p.Pro1476Thr)
c.4378C>A (p.Pro1460Thr)
c.4354C>A (p.Pro1452Thr)
c.4414C>A (p.Pro1472Thr)
 ClinVar dbSNP gnomAD v4
17g.31259086C=CA2255574567NF1c.175C= (p.Pro59=)
c.4369C= (p.Pro1457=)
n.493C=
c.378C=
n.1032C=
c.4417C= (p.Pro1473=)
n.359C=
c.4387C= (p.Pro1463=)
c.4324C= (p.Pro1442=)
c.3322C= (p.Pro1108=)
c.903C=
c.840C=
n.2860C=
c.4426C= (p.Pro1476=)
c.4378C= (p.Pro1460=)
c.4354C= (p.Pro1452=)
c.4414C= (p.Pro1472=)
17g.31259086C>GCA398998866NF1c.175C>G (p.Pro59Ala)
c.4369C>G (p.Pro1457Ala)
n.493C>G
c.378C>G
n.1032C>G
c.4417C>G (p.Pro1473Ala)
n.359C>G
c.4387C>G (p.Pro1463Ala)
c.4324C>G (p.Pro1442Ala)
c.3322C>G (p.Pro1108Ala)
c.903C>G
c.840C>G
n.2860C>G
c.4426C>G (p.Pro1476Ala)
c.4378C>G (p.Pro1460Ala)
c.4354C>G (p.Pro1452Ala)
c.4414C>G (p.Pro1472Ala)
 dbSNP
17g.31259086C>TCA398998867NF1c.175C>T (p.Pro59Ser)
c.4369C>T (p.Pro1457Ser)
n.493C>T
c.378C>T
n.1032C>T
c.4417C>T (p.Pro1473Ser)
n.359C>T
c.4387C>T (p.Pro1463Ser)
c.4324C>T (p.Pro1442Ser)
c.3322C>T (p.Pro1108Ser)
c.903C>T
c.840C>T
n.2860C>T
c.4426C>T (p.Pro1476Ser)
c.4378C>T (p.Pro1460Ser)
c.4354C>T (p.Pro1452Ser)
c.4414C>T (p.Pro1472Ser)
 ClinVar dbSNP gnomAD v4
17g.31259087delCA2499224133NF1c.176del (p.Pro59LeufsTer6)
c.4370del (p.Pro1457LeufsTer6)
n.494del
c.379del
n.1033del
c.4418del (p.Pro1473LeufsTer6)
n.360del
c.4388del (p.Pro1463LeufsTer6)
c.4325del (p.Pro1442LeufsTer6)
c.3323del (p.Pro1108LeufsTer6)
c.904del
c.841del
n.2861del
c.4427del (p.Pro1476LeufsTer6)
c.4379del (p.Pro1460LeufsTer6)
c.4355del (p.Pro1452LeufsTer6)
c.4415del (p.Pro1472LeufsTer6)
 ClinVar dbSNP
17g.31259087_31259091delCA2695225682NF1c.176_180del (p.Pro59GlnfsTer2)
c.4370_4374del (p.Pro1457GlnfsTer2)
n.494_498del
c.379_383del
n.1033_1037del
c.4418_4422del (p.Pro1473GlnfsTer2)
n.360_364del
c.4388_4392del (p.Pro1463GlnfsTer2)
c.4325_4329del (p.Pro1442GlnfsTer2)
c.3323_3327del (p.Pro1108GlnfsTer2)
c.904_908del
c.841_845del
n.2861_2865del
c.4427_4431del (p.Pro1476GlnfsTer2)
c.4379_4383del (p.Pro1460GlnfsTer2)
c.4355_4359del (p.Pro1452GlnfsTer2)
c.4415_4419del (p.Pro1472GlnfsTer2)
17g.31259087C>ACA398998869NF1c.176C>A (p.Pro59His)
c.4370C>A (p.Pro1457His)
n.494C>A
c.379C>A
n.1033C>A
c.4418C>A (p.Pro1473His)
n.360C>A
c.4388C>A (p.Pro1463His)
c.4325C>A (p.Pro1442His)
c.3323C>A (p.Pro1108His)
c.904C>A
c.841C>A
n.2861C>A
c.4427C>A (p.Pro1476His)
c.4379C>A (p.Pro1460His)
c.4355C>A (p.Pro1452His)
c.4415C>A (p.Pro1472His)
 dbSNP gnomAD v4
17g.31259087C>GCA398998871NF1c.176C>G (p.Pro59Arg)
c.4370C>G (p.Pro1457Arg)
n.494C>G
c.379C>G
n.1033C>G
c.4418C>G (p.Pro1473Arg)
n.360C>G
c.4388C>G (p.Pro1463Arg)
c.4325C>G (p.Pro1442Arg)
c.3323C>G (p.Pro1108Arg)
c.904C>G
c.841C>G
n.2861C>G
c.4427C>G (p.Pro1476Arg)
c.4379C>G (p.Pro1460Arg)
c.4355C>G (p.Pro1452Arg)
c.4415C>G (p.Pro1472Arg)
17g.31259087C>TCA398998872NF1c.176C>T (p.Pro59Leu)
c.4370C>T (p.Pro1457Leu)
n.494C>T
c.379C>T
n.1033C>T
c.4418C>T (p.Pro1473Leu)
n.360C>T
c.4388C>T (p.Pro1463Leu)
c.4325C>T (p.Pro1442Leu)
c.3323C>T (p.Pro1108Leu)
c.904C>T
c.841C>T
n.2861C>T
c.4427C>T (p.Pro1476Leu)
c.4379C>T (p.Pro1460Leu)
c.4355C>T (p.Pro1452Leu)
c.4415C>T (p.Pro1472Leu)
 gnomAD v4
17g.31259088T>ACA499233603NF1c.177T>A (p.Pro59=)
c.4371T>A (p.Pro1457=)
n.495T>A
c.380T>A
n.1034T>A
c.4419T>A (p.Pro1473=)
n.361T>A
c.4389T>A (p.Pro1463=)
c.4326T>A (p.Pro1442=)
c.3324T>A (p.Pro1108=)
c.905T>A
c.842T>A
n.2862T>A
c.4428T>A (p.Pro1476=)
c.4380T>A (p.Pro1460=)
c.4356T>A (p.Pro1452=)
c.4416T>A (p.Pro1472=)
17g.31259088T>CCA499233604NF1c.177T>C (p.Pro59=)
c.4371T>C (p.Pro1457=)
n.495T>C
c.380T>C
n.1034T>C
c.4419T>C (p.Pro1473=)
n.361T>C
c.4389T>C (p.Pro1463=)
c.4326T>C (p.Pro1442=)
c.3324T>C (p.Pro1108=)
c.905T>C
c.842T>C
n.2862T>C
c.4428T>C (p.Pro1476=)
c.4380T>C (p.Pro1460=)
c.4356T>C (p.Pro1452=)
c.4416T>C (p.Pro1472=)
17g.31259088T>GCA499233605NF1c.177T>G (p.Pro59=)
c.4371T>G (p.Pro1457=)
n.495T>G
c.380T>G
n.1034T>G
c.4419T>G (p.Pro1473=)
n.361T>G
c.4389T>G (p.Pro1463=)
c.4326T>G (p.Pro1442=)
c.3324T>G (p.Pro1108=)
c.905T>G
c.842T>G
n.2862T>G
c.4428T>G (p.Pro1476=)
c.4380T>G (p.Pro1460=)
c.4356T>G (p.Pro1452=)
c.4416T>G (p.Pro1472=)
17g.31259090delCA2637081520NF1c.179del (p.Phe60SerfsTer5)
c.4373del (p.Phe1458SerfsTer5)
n.497del
c.382del
n.1036del
c.4421del (p.Phe1474SerfsTer5)
n.363del
c.4391del (p.Phe1464SerfsTer5)
c.4328del (p.Phe1443SerfsTer5)
c.3326del (p.Phe1109SerfsTer5)
c.907del
c.844del
n.2864del
c.4430del (p.Phe1477SerfsTer5)
c.4382del (p.Phe1461SerfsTer5)
c.4358del (p.Phe1453SerfsTer5)
c.4418del (p.Phe1473SerfsTer5)
 gnomAD v4
17g.31259089T>ACA398998873NF1c.178T>A (p.Phe60Ile)
c.4372T>A (p.Phe1458Ile)
n.496T>A
c.381T>A
n.1035T>A
c.4420T>A (p.Phe1474Ile)
n.362T>A
c.4390T>A (p.Phe1464Ile)
c.4327T>A (p.Phe1443Ile)
c.3325T>A (p.Phe1109Ile)
c.906T>A
c.843T>A
n.2863T>A
c.4429T>A (p.Phe1477Ile)
c.4381T>A (p.Phe1461Ile)
c.4357T>A (p.Phe1453Ile)
c.4417T>A (p.Phe1473Ile)
 dbSNP
17g.31259089T>CCA398998875NF1c.178T>C (p.Phe60Leu)
c.4372T>C (p.Phe1458Leu)
n.496T>C
c.381T>C
n.1035T>C
c.4420T>C (p.Phe1474Leu)
n.362T>C
c.4390T>C (p.Phe1464Leu)
c.4327T>C (p.Phe1443Leu)
c.3325T>C (p.Phe1109Leu)
c.906T>C
c.843T>C
n.2863T>C
c.4429T>C (p.Phe1477Leu)
c.4381T>C (p.Phe1461Leu)
c.4357T>C (p.Phe1453Leu)
c.4417T>C (p.Phe1473Leu)
 ClinVar dbSNP
17g.31259089T>GCA398998876NF1c.178T>G (p.Phe60Val)
c.4372T>G (p.Phe1458Val)
n.496T>G
c.381T>G
n.1035T>G
c.4420T>G (p.Phe1474Val)
n.362T>G
c.4390T>G (p.Phe1464Val)
c.4327T>G (p.Phe1443Val)
c.3325T>G (p.Phe1109Val)
c.906T>G
c.843T>G
n.2863T>G
c.4429T>G (p.Phe1477Val)
c.4381T>G (p.Phe1461Val)
c.4357T>G (p.Phe1453Val)
c.4417T>G (p.Phe1473Val)
17g.31259089T=CA2255574568NF1c.178T= (p.Phe60=)
c.4372T= (p.Phe1458=)
n.496T=
c.381T=
n.1035T=
c.4420T= (p.Phe1474=)
n.362T=
c.4390T= (p.Phe1464=)
c.4327T= (p.Phe1443=)
c.3325T= (p.Phe1109=)
c.906T=
c.843T=
n.2863T=
c.4429T= (p.Phe1477=)
c.4381T= (p.Phe1461=)
c.4357T= (p.Phe1453=)
c.4417T= (p.Phe1473=)
17g.31259090T>ACA398998878NF1c.179T>A (p.Phe60Tyr)
c.4373T>A (p.Phe1458Tyr)
n.497T>A
c.382T>A
n.1036T>A
c.4421T>A (p.Phe1474Tyr)
n.363T>A
c.4391T>A (p.Phe1464Tyr)
c.4328T>A (p.Phe1443Tyr)
c.3326T>A (p.Phe1109Tyr)
c.907T>A
c.844T>A
n.2864T>A
c.4430T>A (p.Phe1477Tyr)
c.4382T>A (p.Phe1461Tyr)
c.4358T>A (p.Phe1453Tyr)
c.4418T>A (p.Phe1473Tyr)
 dbSNP
17g.31259090T>CCA398998879NF1c.179T>C (p.Phe60Ser)
c.4373T>C (p.Phe1458Ser)
n.497T>C
c.382T>C
n.1036T>C
c.4421T>C (p.Phe1474Ser)
n.363T>C
c.4391T>C (p.Phe1464Ser)
c.4328T>C (p.Phe1443Ser)
c.3326T>C (p.Phe1109Ser)
c.907T>C
c.844T>C
n.2864T>C
c.4430T>C (p.Phe1477Ser)
c.4382T>C (p.Phe1461Ser)
c.4358T>C (p.Phe1453Ser)
c.4418T>C (p.Phe1473Ser)
 ClinVar
17g.31259090T>GCA398998880NF1c.179T>G (p.Phe60Cys)
c.4373T>G (p.Phe1458Cys)
n.497T>G
c.382T>G
n.1036T>G
c.4421T>G (p.Phe1474Cys)
n.363T>G
c.4391T>G (p.Phe1464Cys)
c.4328T>G (p.Phe1443Cys)
c.3326T>G (p.Phe1109Cys)
c.907T>G
c.844T>G
n.2864T>G
c.4430T>G (p.Phe1477Cys)
c.4382T>G (p.Phe1461Cys)
c.4358T>G (p.Phe1453Cys)
c.4418T>G (p.Phe1473Cys)
17g.31259091C>ACA398998884NF1c.180C>A (p.Phe60Leu)
c.4374C>A (p.Phe1458Leu)
n.498C>A
c.383C>A
n.1037C>A
c.4422C>A (p.Phe1474Leu)
n.364C>A
c.4392C>A (p.Phe1464Leu)
c.4329C>A (p.Phe1443Leu)
c.3327C>A (p.Phe1109Leu)
c.908C>A
c.845C>A
n.2865C>A
c.4431C>A (p.Phe1477Leu)
c.4383C>A (p.Phe1461Leu)
c.4359C>A (p.Phe1453Leu)
c.4419C>A (p.Phe1473Leu)
17g.31259091C=CA2255574570NF1c.180C= (p.Phe60=)
c.4374C= (p.Phe1458=)
n.498C=
c.383C=
n.1037C=
c.4422C= (p.Phe1474=)
n.364C=
c.4392C= (p.Phe1464=)
c.4329C= (p.Phe1443=)
c.3327C= (p.Phe1109=)
c.908C=
c.845C=
n.2865C=
c.4431C= (p.Phe1477=)
c.4383C= (p.Phe1461=)
c.4359C= (p.Phe1453=)
c.4419C= (p.Phe1473=)
17g.31259091C>GCA398998882NF1c.180C>G (p.Phe60Leu)
c.4374C>G (p.Phe1458Leu)
n.498C>G
c.383C>G
n.1037C>G
c.4422C>G (p.Phe1474Leu)
n.364C>G
c.4392C>G (p.Phe1464Leu)
c.4329C>G (p.Phe1443Leu)
c.3327C>G (p.Phe1109Leu)
c.908C>G
c.845C>G
n.2865C>G
c.4431C>G (p.Phe1477Leu)
c.4383C>G (p.Phe1461Leu)
c.4359C>G (p.Phe1453Leu)
c.4419C>G (p.Phe1473Leu)
 dbSNP COSMIC COSMIC
17g.31259091C>TCA499233606NF1c.180C>T (p.Phe60=)
c.4374C>T (p.Phe1458=)
n.498C>T
c.383C>T
n.1037C>T
c.4422C>T (p.Phe1474=)
n.364C>T
c.4392C>T (p.Phe1464=)
c.4329C>T (p.Phe1443=)
c.3327C>T (p.Phe1109=)
c.908C>T
c.845C>T
n.2865C>T
c.4431C>T (p.Phe1477=)
c.4383C>T (p.Phe1461=)
c.4359C>T (p.Phe1453=)
c.4419C>T (p.Phe1473=)
 ClinVar dbSNP
17g.31259092A>CCA398998885NF1c.181A>C (p.Asn61His)
c.4375A>C (p.Asn1459His)
n.499A>C
c.384A>C
n.1038A>C
c.4423A>C (p.Asn1475His)
n.365A>C
c.4393A>C (p.Asn1465His)
c.4330A>C (p.Asn1444His)
c.3328A>C (p.Asn1110His)
c.909A>C
c.846A>C
n.2866A>C
c.4432A>C (p.Asn1478His)
c.4384A>C (p.Asn1462His)
c.4360A>C (p.Asn1454His)
c.4420A>C (p.Asn1474His)
17g.31259092A>GCA398998887NF1c.181A>G (p.Asn61Asp)
c.4375A>G (p.Asn1459Asp)
n.499A>G
c.384A>G
n.1038A>G
c.4423A>G (p.Asn1475Asp)
n.365A>G
c.4393A>G (p.Asn1465Asp)
c.4330A>G (p.Asn1444Asp)
c.3328A>G (p.Asn1110Asp)
c.909A>G
c.846A>G
n.2866A>G
c.4432A>G (p.Asn1478Asp)
c.4384A>G (p.Asn1462Asp)
c.4360A>G (p.Asn1454Asp)
c.4420A>G (p.Asn1474Asp)
 gnomAD v4
17g.31259092A>TCA398998888NF1c.181A>T (p.Asn61Tyr)
c.4375A>T (p.Asn1459Tyr)
n.499A>T
c.384A>T
n.1038A>T
c.4423A>T (p.Asn1475Tyr)
n.365A>T
c.4393A>T (p.Asn1465Tyr)
c.4330A>T (p.Asn1444Tyr)
c.3328A>T (p.Asn1110Tyr)
c.909A>T
c.846A>T
n.2866A>T
c.4432A>T (p.Asn1478Tyr)
c.4384A>T (p.Asn1462Tyr)
c.4360A>T (p.Asn1454Tyr)
c.4420A>T (p.Asn1474Tyr)
 dbSNP COSMIC COSMIC
17g.31259093A=CA2255574577NF1c.182A= (p.Asn61=)
c.4376A= (p.Asn1459=)
n.500A=
c.385A=
n.1039A=
c.4424A= (p.Asn1475=)
n.366A=
c.4394A= (p.Asn1465=)
c.4331A= (p.Asn1444=)
c.3329A= (p.Asn1110=)
c.910A=
c.847A=
n.2867A=
c.4433A= (p.Asn1478=)
c.4385A= (p.Asn1462=)
c.4361A= (p.Asn1454=)
c.4421A= (p.Asn1474=)
17g.31259093A>CCA398998889NF1c.182A>C (p.Asn61Thr)
c.4376A>C (p.Asn1459Thr)
n.500A>C
c.385A>C
n.1039A>C
c.4424A>C (p.Asn1475Thr)
n.366A>C
c.4394A>C (p.Asn1465Thr)
c.4331A>C (p.Asn1444Thr)
c.3329A>C (p.Asn1110Thr)
c.910A>C
c.847A>C
n.2867A>C
c.4433A>C (p.Asn1478Thr)
c.4385A>C (p.Asn1462Thr)
c.4361A>C (p.Asn1454Thr)
c.4421A>C (p.Asn1474Thr)
17g.31259093A>GCA193111NF1c.182A>G (p.Asn61Ser)
c.4376A>G (p.Asn1459Ser)
n.500A>G
c.385A>G
n.1039A>G
c.4424A>G (p.Asn1475Ser)
n.366A>G
c.4394A>G (p.Asn1465Ser)
c.4331A>G (p.Asn1444Ser)
c.3329A>G (p.Asn1110Ser)
c.910A>G
c.847A>G
n.2867A>G
c.4433A>G (p.Asn1478Ser)
c.4385A>G (p.Asn1462Ser)
c.4361A>G (p.Asn1454Ser)
c.4421A>G (p.Asn1474Ser)
 ClinVar dbSNP gnomAD v4
17g.31259093A>TCA398998891NF1c.182A>T (p.Asn61Ile)
c.4376A>T (p.Asn1459Ile)
n.500A>T
c.385A>T
n.1039A>T
c.4424A>T (p.Asn1475Ile)
n.366A>T
c.4394A>T (p.Asn1465Ile)
c.4331A>T (p.Asn1444Ile)
c.3329A>T (p.Asn1110Ile)
c.910A>T
c.847A>T
n.2867A>T
c.4433A>T (p.Asn1478Ile)
c.4385A>T (p.Asn1462Ile)
c.4361A>T (p.Asn1454Ile)
c.4421A>T (p.Asn1474Ile)
17g.31259094T>ACA398998893NF1c.183T>A (p.Asn61Lys)
c.4377T>A (p.Asn1459Lys)
n.501T>A
c.386T>A
n.1040T>A
c.4425T>A (p.Asn1475Lys)
n.367T>A
c.4395T>A (p.Asn1465Lys)
c.4332T>A (p.Asn1444Lys)
c.3330T>A (p.Asn1110Lys)
c.911T>A
c.848T>A
n.2868T>A
c.4434T>A (p.Asn1478Lys)
c.4386T>A (p.Asn1462Lys)
c.4362T>A (p.Asn1454Lys)
c.4422T>A (p.Asn1474Lys)
 dbSNP
17g.31259094T>CCA499233607NF1c.183T>C (p.Asn61=)
c.4377T>C (p.Asn1459=)
n.501T>C
c.386T>C
n.1040T>C
c.4425T>C (p.Asn1475=)
n.367T>C
c.4395T>C (p.Asn1465=)
c.4332T>C (p.Asn1444=)
c.3330T>C (p.Asn1110=)
c.911T>C
c.848T>C
n.2868T>C
c.4434T>C (p.Asn1478=)
c.4386T>C (p.Asn1462=)
c.4362T>C (p.Asn1454=)
c.4422T>C (p.Asn1474=)
17g.31259094T>GCA398998895NF1c.183T>G (p.Asn61Lys)
c.4377T>G (p.Asn1459Lys)
n.501T>G
c.386T>G
n.1040T>G
c.4425T>G (p.Asn1475Lys)
n.367T>G
c.4395T>G (p.Asn1465Lys)
c.4332T>G (p.Asn1444Lys)
c.3330T>G (p.Asn1110Lys)
c.911T>G
c.848T>G
n.2868T>G
c.4434T>G (p.Asn1478Lys)
c.4386T>G (p.Asn1462Lys)
c.4362T>G (p.Asn1454Lys)
c.4422T>G (p.Asn1474Lys)
 ClinVar dbSNP
17g.31259095_31259114dupCA2695225684NF1c.184_203dup (p.Phe68LeufsTer4)
c.4378_4397dup (p.Phe1466LeufsTer4)
n.502_521dup
c.387_406dup
n.1041_1060dup
c.4426_4445dup (p.Phe1482LeufsTer4)
n.368_387dup
c.4396_4415dup (p.Phe1472LeufsTer4)
c.4333_4352dup (p.Phe1451LeufsTer4)
c.3331_3350dup (p.Phe1117LeufsTer4)
c.912_931dup
c.849_868dup
n.2869_2888dup
c.4435_4454dup (p.Phe1485LeufsTer4)
c.4387_4406dup (p.Phe1469LeufsTer4)
c.4363_4382dup (p.Phe1461LeufsTer4)
c.4423_4442dup (p.Phe1481LeufsTer4)
17g.31259095G>ACA398998897NF1c.184G>A (p.Asp62Asn)
c.4378G>A (p.Asp1460Asn)
n.502G>A
c.387G>A
n.1041G>A
c.4426G>A (p.Asp1476Asn)
n.368G>A
c.4396G>A (p.Asp1466Asn)
c.4333G>A (p.Asp1445Asn)
c.3331G>A (p.Asp1111Asn)
c.912G>A
c.849G>A
n.2869G>A
c.4435G>A (p.Asp1479Asn)
c.4387G>A (p.Asp1463Asn)
c.4363G>A (p.Asp1455Asn)
c.4423G>A (p.Asp1475Asn)
 dbSNP
17g.31259095G>CCA398998898NF1c.184G>C (p.Asp62His)
c.4378G>C (p.Asp1460His)
n.502G>C
c.387G>C
n.1041G>C
c.4426G>C (p.Asp1476His)
n.368G>C
c.4396G>C (p.Asp1466His)
c.4333G>C (p.Asp1445His)
c.3331G>C (p.Asp1111His)
c.912G>C
c.849G>C
n.2869G>C
c.4435G>C (p.Asp1479His)
c.4387G>C (p.Asp1463His)
c.4363G>C (p.Asp1455His)
c.4423G>C (p.Asp1475His)
 dbSNP
17g.31259095G=CA2255574580NF1c.184G= (p.Asp62=)
c.4378G= (p.Asp1460=)
n.502G=
c.387G=
n.1041G=
c.4426G= (p.Asp1476=)
n.368G=
c.4396G= (p.Asp1466=)
c.4333G= (p.Asp1445=)
c.3331G= (p.Asp1111=)
c.912G=
c.849G=
n.2869G=
c.4435G= (p.Asp1479=)
c.4387G= (p.Asp1463=)
c.4363G= (p.Asp1455=)
c.4423G= (p.Asp1475=)
17g.31259095G>TCA10583504NF1c.184G>T (p.Asp62Tyr)
c.4378G>T (p.Asp1460Tyr)
n.502G>T
c.387G>T
n.1041G>T
c.4426G>T (p.Asp1476Tyr)
n.368G>T
c.4396G>T (p.Asp1466Tyr)
c.4333G>T (p.Asp1445Tyr)
c.3331G>T (p.Asp1111Tyr)
c.912G>T
c.849G>T
n.2869G>T
c.4435G>T (p.Asp1479Tyr)
c.4387G>T (p.Asp1463Tyr)
c.4363G>T (p.Asp1455Tyr)
c.4423G>T (p.Asp1475Tyr)
 ClinVar dbSNP
17g.31259096_31259122delCA2573153628NF1c.185_211del (p.Asp62_Ala70del)
c.4379_4405del (p.Asp1460_Ala1468del)
n.503_529del
c.388_414del
n.1042_1068del
c.4427_4453del (p.Asp1476_Ala1484del)
n.369_395del
c.4397_4423del (p.Asp1466_Ala1474del)
c.4334_4360del (p.Asp1445_Ala1453del)
c.3332_3358del (p.Asp1111_Ala1119del)
c.913_939del
c.850_876del
n.2870_2896del
c.4436_4462del (p.Asp1479_Ala1487del)
c.4388_4414del (p.Asp1463_Ala1471del)
c.4364_4390del (p.Asp1455_Ala1463del)
c.4424_4450del (p.Asp1475_Ala1483del)
 ClinVar dbSNP
17g.31259096A>CCA398998900NF1c.185A>C (p.Asp62Ala)
c.4379A>C (p.Asp1460Ala)
n.503A>C
c.388A>C
n.1042A>C
c.4427A>C (p.Asp1476Ala)
n.369A>C
c.4397A>C (p.Asp1466Ala)
c.4334A>C (p.Asp1445Ala)
c.3332A>C (p.Asp1111Ala)
c.913A>C
c.850A>C
n.2870A>C
c.4436A>C (p.Asp1479Ala)
c.4388A>C (p.Asp1463Ala)
c.4364A>C (p.Asp1455Ala)
c.4424A>C (p.Asp1475Ala)
17g.31259096A>GCA398998902NF1c.185A>G (p.Asp62Gly)
c.4379A>G (p.Asp1460Gly)
n.503A>G
c.388A>G
n.1042A>G
c.4427A>G (p.Asp1476Gly)
n.369A>G
c.4397A>G (p.Asp1466Gly)
c.4334A>G (p.Asp1445Gly)
c.3332A>G (p.Asp1111Gly)
c.913A>G
c.850A>G
n.2870A>G
c.4436A>G (p.Asp1479Gly)
c.4388A>G (p.Asp1463Gly)
c.4364A>G (p.Asp1455Gly)
c.4424A>G (p.Asp1475Gly)
17g.31259096A>TCA398998903NF1c.185A>T (p.Asp62Val)
c.4379A>T (p.Asp1460Val)
n.503A>T
c.388A>T
n.1042A>T
c.4427A>T (p.Asp1476Val)
n.369A>T
c.4397A>T (p.Asp1466Val)
c.4334A>T (p.Asp1445Val)
c.3332A>T (p.Asp1111Val)
c.913A>T
c.850A>T
n.2870A>T
c.4436A>T (p.Asp1479Val)
c.4388A>T (p.Asp1463Val)
c.4364A>T (p.Asp1455Val)
c.4424A>T (p.Asp1475Val)
17g.31259097T>ACA398998905NF1c.186T>A (p.Asp62Glu)
c.4380T>A (p.Asp1460Glu)
n.504T>A
c.389T>A
n.1043T>A
c.4428T>A (p.Asp1476Glu)
n.370T>A
c.4398T>A (p.Asp1466Glu)
c.4335T>A (p.Asp1445Glu)
c.3333T>A (p.Asp1111Glu)
c.914T>A
c.851T>A
n.2871T>A
c.4437T>A (p.Asp1479Glu)
c.4389T>A (p.Asp1463Glu)
c.4365T>A (p.Asp1455Glu)
c.4425T>A (p.Asp1475Glu)
17g.31259097T>CCA499233608NF1c.186T>C (p.Asp62=)
c.4380T>C (p.Asp1460=)
n.504T>C
c.389T>C
n.1043T>C
c.4428T>C (p.Asp1476=)
n.370T>C
c.4398T>C (p.Asp1466=)
c.4335T>C (p.Asp1445=)
c.3333T>C (p.Asp1111=)
c.914T>C
c.851T>C
n.2871T>C
c.4437T>C (p.Asp1479=)
c.4389T>C (p.Asp1463=)
c.4365T>C (p.Asp1455=)
c.4425T>C (p.Asp1475=)
17g.31259097T>GCA398998904NF1c.186T>G (p.Asp62Glu)
c.4380T>G (p.Asp1460Glu)
n.504T>G
c.389T>G
n.1043T>G
c.4428T>G (p.Asp1476Glu)
n.370T>G
c.4398T>G (p.Asp1466Glu)
c.4335T>G (p.Asp1445Glu)
c.3333T>G (p.Asp1111Glu)
c.914T>G
c.851T>G
n.2871T>G
c.4437T>G (p.Asp1479Glu)
c.4389T>G (p.Asp1463Glu)
c.4365T>G (p.Asp1455Glu)
c.4425T>G (p.Asp1475Glu)
 ClinVar dbSNP
17g.31259100dupCA2580093041NF1c.189dup (p.Val64CysfsTer6)
c.4383dup (p.Val1462CysfsTer6)
n.507dup
c.392dup
n.1046dup
c.4431dup (p.Val1478CysfsTer6)
n.373dup
c.4401dup (p.Val1468CysfsTer6)
c.4338dup (p.Val1447CysfsTer6)
c.3336dup (p.Val1113CysfsTer6)
c.917dup
c.854dup
n.2874dup
c.4440dup (p.Val1481CysfsTer6)
c.4392dup (p.Val1465CysfsTer6)
c.4368dup (p.Val1457CysfsTer6)
c.4428dup (p.Val1477CysfsTer6)
 ClinVar
17g.31259100delCA2580093040NF1c.189del (p.Phe63LeufsTer2)
c.4383del (p.Phe1461LeufsTer2)
n.507del
c.392del
n.1046del
c.4431del (p.Phe1477LeufsTer2)
n.373del
c.4401del (p.Phe1467LeufsTer2)
c.4338del (p.Phe1446LeufsTer2)
c.3336del (p.Phe1112LeufsTer2)
c.917del
c.854del
n.2874del
c.4440del (p.Phe1480LeufsTer2)
c.4392del (p.Phe1464LeufsTer2)
c.4368del (p.Phe1456LeufsTer2)
c.4428del (p.Phe1476LeufsTer2)
 ClinVar
17g.31259098T>ACA398998907NF1c.187T>A (p.Phe63Ile)
c.4381T>A (p.Phe1461Ile)
n.505T>A
c.390T>A
n.1044T>A
c.4429T>A (p.Phe1477Ile)
n.371T>A
c.4399T>A (p.Phe1467Ile)
c.4336T>A (p.Phe1446Ile)
c.3334T>A (p.Phe1112Ile)
c.915T>A
c.852T>A
n.2872T>A
c.4438T>A (p.Phe1480Ile)
c.4390T>A (p.Phe1464Ile)
c.4366T>A (p.Phe1456Ile)
c.4426T>A (p.Phe1476Ile)
17g.31259098T>CCA398998908NF1c.187T>C (p.Phe63Leu)
c.4381T>C (p.Phe1461Leu)
n.505T>C
c.390T>C
n.1044T>C
c.4429T>C (p.Phe1477Leu)
n.371T>C
c.4399T>C (p.Phe1467Leu)
c.4336T>C (p.Phe1446Leu)
c.3334T>C (p.Phe1112Leu)
c.915T>C
c.852T>C
n.2872T>C
c.4438T>C (p.Phe1480Leu)
c.4390T>C (p.Phe1464Leu)
c.4366T>C (p.Phe1456Leu)
c.4426T>C (p.Phe1476Leu)
17g.31259098T>GCA398998910NF1c.187T>G (p.Phe63Val)
c.4381T>G (p.Phe1461Val)
n.505T>G
c.390T>G
n.1044T>G
c.4429T>G (p.Phe1477Val)
n.371T>G
c.4399T>G (p.Phe1467Val)
c.4336T>G (p.Phe1446Val)
c.3334T>G (p.Phe1112Val)
c.915T>G
c.852T>G
n.2872T>G
c.4438T>G (p.Phe1480Val)
c.4390T>G (p.Phe1464Val)
c.4366T>G (p.Phe1456Val)
c.4426T>G (p.Phe1476Val)

Number of alleles fetched