Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31337350T>CCA2637076554NF1c.6410-18T>C (n.6410-18T>C)
c.992-18T>C (n.992-18T>C)
n.1288T>C
c.584-18T>C (n.584-18T>C)
n.3073-18T>C
c.6458-18T>C (n.6458-18T>C)
c.6428-18T>C (n.6428-18T>C)
c.6365-18T>C (n.6365-18T>C)
c.5363-18T>C (n.5363-18T>C)
c.6564-18T>C (n.6564-18T>C)
c.6419-18T>C (n.6419-18T>C)
c.6395-18T>C (n.6395-18T>C)
c.6455-18T>C (n.6455-18T>C)
 dbSNP gnomAD v4
17g.31337350_31337351delinsTCCA2255601802NF1c.6410-18_6410-17delinsTC (n.6410-18_6410-17delinsTC)
c.992-18_992-17delinsTC (n.992-18_992-17delinsTC)
n.1288_1289delinsTC
c.584-18_584-17delinsTC (n.584-18_584-17delinsTC)
n.3073-18_3073-17delinsTC
c.6458-18_6458-17delinsTC (n.6458-18_6458-17delinsTC)
c.6428-18_6428-17delinsTC (n.6428-18_6428-17delinsTC)
c.6365-18_6365-17delinsTC (n.6365-18_6365-17delinsTC)
c.5363-18_5363-17delinsTC (n.5363-18_5363-17delinsTC)
c.6564-18_6564-17delinsTC (n.6564-18_6564-17delinsTC)
c.6419-18_6419-17delinsTC (n.6419-18_6419-17delinsTC)
c.6395-18_6395-17delinsTC (n.6395-18_6395-17delinsTC)
c.6455-18_6455-17delinsTC (n.6455-18_6455-17delinsTC)
17g.31337351C>ACA2637076562NF1c.6410-17C>A (n.6410-17C>A)
c.992-17C>A (n.992-17C>A)
n.1289C>A
c.584-17C>A (n.584-17C>A)
n.3073-17C>A
c.6458-17C>A (n.6458-17C>A)
c.6428-17C>A (n.6428-17C>A)
c.6365-17C>A (n.6365-17C>A)
c.5363-17C>A (n.5363-17C>A)
c.6564-17C>A (n.6564-17C>A)
c.6419-17C>A (n.6419-17C>A)
c.6395-17C>A (n.6395-17C>A)
c.6455-17C>A (n.6455-17C>A)
 dbSNP gnomAD v4
17g.31337351C=CA2255601804NF1c.6410-17C= (n.6410-17C=)
c.992-17C= (n.992-17C=)
n.1289C=
c.584-17C= (n.584-17C=)
n.3073-17C=
c.6458-17C= (n.6458-17C=)
c.6428-17C= (n.6428-17C=)
c.6365-17C= (n.6365-17C=)
c.5363-17C= (n.5363-17C=)
c.6564-17C= (n.6564-17C=)
c.6419-17C= (n.6419-17C=)
c.6395-17C= (n.6395-17C=)
c.6455-17C= (n.6455-17C=)
17g.31337351C>GCA2255601805NF1c.6410-17C>G (n.6410-17C>G)
c.992-17C>G (n.992-17C>G)
n.1289C>G
c.584-17C>G (n.584-17C>G)
n.3073-17C>G
c.6458-17C>G (n.6458-17C>G)
c.6428-17C>G (n.6428-17C>G)
c.6365-17C>G (n.6365-17C>G)
c.5363-17C>G (n.5363-17C>G)
c.6564-17C>G (n.6564-17C>G)
c.6419-17C>G (n.6419-17C>G)
c.6395-17C>G (n.6395-17C>G)
c.6455-17C>G (n.6455-17C>G)
 ClinVar dbSNP
17g.31337351C>TCA2697559548NF1c.6410-17C>T (n.6410-17C>T)
c.992-17C>T (n.992-17C>T)
n.1289C>T
c.584-17C>T (n.584-17C>T)
n.3073-17C>T
c.6458-17C>T (n.6458-17C>T)
c.6428-17C>T (n.6428-17C>T)
c.6365-17C>T (n.6365-17C>T)
c.5363-17C>T (n.5363-17C>T)
c.6564-17C>T (n.6564-17C>T)
c.6419-17C>T (n.6419-17C>T)
c.6395-17C>T (n.6395-17C>T)
c.6455-17C>T (n.6455-17C>T)
 ClinVar dbSNP
17g.31337352delCA8487352NF1c.6410-16del (n.6410-16del)
c.992-16del (n.992-16del)
n.1290del
c.584-16del (n.584-16del)
n.3073-16del
c.6458-16del (n.6458-16del)
c.6428-16del (n.6428-16del)
c.6365-16del (n.6365-16del)
c.5363-16del (n.5363-16del)
c.6564-16del (n.6564-16del)
c.6419-16del (n.6419-16del)
c.6395-16del (n.6395-16del)
c.6455-16del (n.6455-16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337352C>ACA2733213196NF1c.6410-16C>A (n.6410-16C>A)
c.992-16C>A (n.992-16C>A)
n.1290C>A
c.584-16C>A (n.584-16C>A)
n.3073-16C>A
c.6458-16C>A (n.6458-16C>A)
c.6428-16C>A (n.6428-16C>A)
c.6365-16C>A (n.6365-16C>A)
c.5363-16C>A (n.5363-16C>A)
c.6564-16C>A (n.6564-16C>A)
c.6419-16C>A (n.6419-16C>A)
c.6395-16C>A (n.6395-16C>A)
c.6455-16C>A (n.6455-16C>A)
 dbSNP
17g.31337352C=CA2255601806NF1c.6410-16C= (n.6410-16C=)
c.992-16C= (n.992-16C=)
n.1290C=
c.584-16C= (n.584-16C=)
n.3073-16C=
c.6458-16C= (n.6458-16C=)
c.6428-16C= (n.6428-16C=)
c.6365-16C= (n.6365-16C=)
c.5363-16C= (n.5363-16C=)
c.6564-16C= (n.6564-16C=)
c.6419-16C= (n.6419-16C=)
c.6395-16C= (n.6395-16C=)
c.6455-16C= (n.6455-16C=)
17g.31337352C>GCA289386706NF1c.6410-16C>G (n.6410-16C>G)
c.992-16C>G (n.992-16C>G)
n.1290C>G
c.584-16C>G (n.584-16C>G)
n.3073-16C>G
c.6458-16C>G (n.6458-16C>G)
c.6428-16C>G (n.6428-16C>G)
c.6365-16C>G (n.6365-16C>G)
c.5363-16C>G (n.5363-16C>G)
c.6564-16C>G (n.6564-16C>G)
c.6419-16C>G (n.6419-16C>G)
c.6395-16C>G (n.6395-16C>G)
c.6455-16C>G (n.6455-16C>G)
 dbSNP gnomAD v4
17g.31337352C>TCA2733213197NF1c.6410-16C>T (n.6410-16C>T)
c.992-16C>T (n.992-16C>T)
n.1290C>T
c.584-16C>T (n.584-16C>T)
n.3073-16C>T
c.6458-16C>T (n.6458-16C>T)
c.6428-16C>T (n.6428-16C>T)
c.6365-16C>T (n.6365-16C>T)
c.5363-16C>T (n.5363-16C>T)
c.6564-16C>T (n.6564-16C>T)
c.6419-16C>T (n.6419-16C>T)
c.6395-16C>T (n.6395-16C>T)
c.6455-16C>T (n.6455-16C>T)
 dbSNP
17g.31337353T>CCA2733614162NF1c.6410-15T>C (n.6410-15T>C)
c.992-15T>C (n.992-15T>C)
n.1291T>C
c.584-15T>C (n.584-15T>C)
n.3073-15T>C
c.6458-15T>C (n.6458-15T>C)
c.6428-15T>C (n.6428-15T>C)
c.6365-15T>C (n.6365-15T>C)
c.5363-15T>C (n.5363-15T>C)
c.6564-15T>C (n.6564-15T>C)
c.6419-15T>C (n.6419-15T>C)
c.6395-15T>C (n.6395-15T>C)
c.6455-15T>C (n.6455-15T>C)
 dbSNP
17g.31337355delCA2580093351NF1c.6410-13del (n.6410-13del)
c.992-13del (n.992-13del)
n.1293del
c.584-13del (n.584-13del)
n.3073-13del
c.6458-13del (n.6458-13del)
c.6428-13del (n.6428-13del)
c.6365-13del (n.6365-13del)
c.5363-13del (n.5363-13del)
c.6564-13del (n.6564-13del)
c.6419-13del (n.6419-13del)
c.6395-13del (n.6395-13del)
c.6455-13del (n.6455-13del)
 ClinVar gnomAD v4
17g.31337354T>CCA8487353NF1c.6410-14T>C (n.6410-14T>C)
c.992-14T>C (n.992-14T>C)
n.1292T>C
c.584-14T>C (n.584-14T>C)
n.3073-14T>C
c.6458-14T>C (n.6458-14T>C)
c.6428-14T>C (n.6428-14T>C)
c.6365-14T>C (n.6365-14T>C)
c.5363-14T>C (n.5363-14T>C)
c.6564-14T>C (n.6564-14T>C)
c.6419-14T>C (n.6419-14T>C)
c.6395-14T>C (n.6395-14T>C)
c.6455-14T>C (n.6455-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337354T>GCA2637076580NF1c.6410-14T>G (n.6410-14T>G)
c.992-14T>G (n.992-14T>G)
n.1292T>G
c.584-14T>G (n.584-14T>G)
n.3073-14T>G
c.6458-14T>G (n.6458-14T>G)
c.6428-14T>G (n.6428-14T>G)
c.6365-14T>G (n.6365-14T>G)
c.5363-14T>G (n.5363-14T>G)
c.6564-14T>G (n.6564-14T>G)
c.6419-14T>G (n.6419-14T>G)
c.6395-14T>G (n.6395-14T>G)
c.6455-14T>G (n.6455-14T>G)
 gnomAD v4
17g.31337354T=CA2255601807NF1c.6410-14T= (n.6410-14T=)
c.992-14T= (n.992-14T=)
n.1292T=
c.584-14T= (n.584-14T=)
n.3073-14T=
c.6458-14T= (n.6458-14T=)
c.6428-14T= (n.6428-14T=)
c.6365-14T= (n.6365-14T=)
c.5363-14T= (n.5363-14T=)
c.6564-14T= (n.6564-14T=)
c.6419-14T= (n.6419-14T=)
c.6395-14T= (n.6395-14T=)
c.6455-14T= (n.6455-14T=)
17g.31337355T>ACA2733614176NF1c.6410-13T>A (n.6410-13T>A)
c.992-13T>A (n.992-13T>A)
n.1293T>A
c.584-13T>A (n.584-13T>A)
n.3073-13T>A
c.6458-13T>A (n.6458-13T>A)
c.6428-13T>A (n.6428-13T>A)
c.6365-13T>A (n.6365-13T>A)
c.5363-13T>A (n.5363-13T>A)
c.6564-13T>A (n.6564-13T>A)
c.6419-13T>A (n.6419-13T>A)
c.6395-13T>A (n.6395-13T>A)
c.6455-13T>A (n.6455-13T>A)
 dbSNP
17g.31337355T>GCA2637076582NF1c.6410-13T>G (n.6410-13T>G)
c.992-13T>G (n.992-13T>G)
n.1293T>G
c.584-13T>G (n.584-13T>G)
n.3073-13T>G
c.6458-13T>G (n.6458-13T>G)
c.6428-13T>G (n.6428-13T>G)
c.6365-13T>G (n.6365-13T>G)
c.5363-13T>G (n.5363-13T>G)
c.6564-13T>G (n.6564-13T>G)
c.6419-13T>G (n.6419-13T>G)
c.6395-13T>G (n.6395-13T>G)
c.6455-13T>G (n.6455-13T>G)
 gnomAD v4
17g.31337356A=CA2255601808NF1c.6410-12A= (n.6410-12A=)
c.992-12A= (n.992-12A=)
n.1294A=
c.584-12A= (n.584-12A=)
n.3073-12A=
c.6458-12A= (n.6458-12A=)
c.6428-12A= (n.6428-12A=)
c.6365-12A= (n.6365-12A=)
c.5363-12A= (n.5363-12A=)
c.6564-12A= (n.6564-12A=)
c.6419-12A= (n.6419-12A=)
c.6395-12A= (n.6395-12A=)
c.6455-12A= (n.6455-12A=)
17g.31337356A>GCA982981105NF1c.6410-12A>G (n.6410-12A>G)
c.992-12A>G (n.992-12A>G)
n.1294A>G
c.584-12A>G (n.584-12A>G)
n.3073-12A>G
c.6458-12A>G (n.6458-12A>G)
c.6428-12A>G (n.6428-12A>G)
c.6365-12A>G (n.6365-12A>G)
c.5363-12A>G (n.5363-12A>G)
c.6564-12A>G (n.6564-12A>G)
c.6419-12A>G (n.6419-12A>G)
c.6395-12A>G (n.6395-12A>G)
c.6455-12A>G (n.6455-12A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.31337356A>TCA8487354NF1c.6410-12A>T (n.6410-12A>T)
c.992-12A>T (n.992-12A>T)
n.1294A>T
c.584-12A>T (n.584-12A>T)
n.3073-12A>T
c.6458-12A>T (n.6458-12A>T)
c.6428-12A>T (n.6428-12A>T)
c.6365-12A>T (n.6365-12A>T)
c.5363-12A>T (n.5363-12A>T)
c.6564-12A>T (n.6564-12A>T)
c.6419-12A>T (n.6419-12A>T)
c.6395-12A>T (n.6395-12A>T)
c.6455-12A>T (n.6455-12A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337357T>CCA2733614201NF1c.6410-11T>C (n.6410-11T>C)
c.992-11T>C (n.992-11T>C)
n.1295T>C
c.584-11T>C (n.584-11T>C)
n.3073-11T>C
c.6458-11T>C (n.6458-11T>C)
c.6428-11T>C (n.6428-11T>C)
c.6365-11T>C (n.6365-11T>C)
c.5363-11T>C (n.5363-11T>C)
c.6564-11T>C (n.6564-11T>C)
c.6419-11T>C (n.6419-11T>C)
c.6395-11T>C (n.6395-11T>C)
c.6455-11T>C (n.6455-11T>C)
 dbSNP
17g.31337357T>GCA2499224189NF1c.6410-11T>G (n.6410-11T>G)
c.992-11T>G (n.992-11T>G)
n.1295T>G
c.584-11T>G (n.584-11T>G)
n.3073-11T>G
c.6458-11T>G (n.6458-11T>G)
c.6428-11T>G (n.6428-11T>G)
c.6365-11T>G (n.6365-11T>G)
c.5363-11T>G (n.5363-11T>G)
c.6564-11T>G (n.6564-11T>G)
c.6419-11T>G (n.6419-11T>G)
c.6395-11T>G (n.6395-11T>G)
c.6455-11T>G (n.6455-11T>G)
 ClinVar dbSNP
17g.31337358T>GCA645596517NF1c.6410-10T>G (n.6410-10T>G)
c.992-10T>G (n.992-10T>G)
n.1296T>G
c.584-10T>G (n.584-10T>G)
n.3073-10T>G
c.6458-10T>G (n.6458-10T>G)
c.6428-10T>G (n.6428-10T>G)
c.6365-10T>G (n.6365-10T>G)
c.5363-10T>G (n.5363-10T>G)
c.6564-10T>G (n.6564-10T>G)
c.6419-10T>G (n.6419-10T>G)
c.6395-10T>G (n.6395-10T>G)
c.6455-10T>G (n.6455-10T>G)
 ClinVar dbSNP COSMIC COSMIC
17g.31337359C>ACA2637076591NF1c.6410-9C>A (n.6410-9C>A)
c.992-9C>A (n.992-9C>A)
n.1297C>A
c.584-9C>A (n.584-9C>A)
n.3073-9C>A
c.6458-9C>A (n.6458-9C>A)
c.6428-9C>A (n.6428-9C>A)
c.6365-9C>A (n.6365-9C>A)
c.5363-9C>A (n.5363-9C>A)
c.6564-9C>A (n.6564-9C>A)
c.6419-9C>A (n.6419-9C>A)
c.6395-9C>A (n.6395-9C>A)
c.6455-9C>A (n.6455-9C>A)
 gnomAD v4
17g.31337359C=CA2255601809NF1c.6410-9C= (n.6410-9C=)
c.992-9C= (n.992-9C=)
n.1297C=
c.584-9C= (n.584-9C=)
n.3073-9C=
c.6458-9C= (n.6458-9C=)
c.6428-9C= (n.6428-9C=)
c.6365-9C= (n.6365-9C=)
c.5363-9C= (n.5363-9C=)
c.6564-9C= (n.6564-9C=)
c.6419-9C= (n.6419-9C=)
c.6395-9C= (n.6395-9C=)
c.6455-9C= (n.6455-9C=)
17g.31337359C>TCA625780829NF1c.6410-9C>T (n.6410-9C>T)
c.992-9C>T (n.992-9C>T)
n.1297C>T
c.584-9C>T (n.584-9C>T)
n.3073-9C>T
c.6458-9C>T (n.6458-9C>T)
c.6428-9C>T (n.6428-9C>T)
c.6365-9C>T (n.6365-9C>T)
c.5363-9C>T (n.5363-9C>T)
c.6564-9C>T (n.6564-9C>T)
c.6419-9C>T (n.6419-9C>T)
c.6395-9C>T (n.6395-9C>T)
c.6455-9C>T (n.6455-9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31337360T>GCA2809194775NF1c.6410-8T>G (n.6410-8T>G)
c.992-8T>G (n.992-8T>G)
n.1298T>G
c.584-8T>G (n.584-8T>G)
n.3073-8T>G
c.6458-8T>G (n.6458-8T>G)
c.6428-8T>G (n.6428-8T>G)
c.6365-8T>G (n.6365-8T>G)
c.5363-8T>G (n.5363-8T>G)
c.6564-8T>G (n.6564-8T>G)
c.6419-8T>G (n.6419-8T>G)
c.6395-8T>G (n.6395-8T>G)
c.6455-8T>G (n.6455-8T>G)
17g.31337361C>ACA2637076599NF1c.6410-7C>A (n.6410-7C>A)
c.992-7C>A (n.992-7C>A)
n.1299C>A
c.584-7C>A (n.584-7C>A)
n.3073-7C>A
c.6458-7C>A (n.6458-7C>A)
c.6428-7C>A (n.6428-7C>A)
c.6365-7C>A (n.6365-7C>A)
c.5363-7C>A (n.5363-7C>A)
c.6564-7C>A (n.6564-7C>A)
c.6419-7C>A (n.6419-7C>A)
c.6395-7C>A (n.6395-7C>A)
c.6455-7C>A (n.6455-7C>A)
 gnomAD v4
17g.31337361C=CA2255601811NF1c.6410-7C= (n.6410-7C=)
c.992-7C= (n.992-7C=)
n.1299C=
c.584-7C= (n.584-7C=)
n.3073-7C=
c.6458-7C= (n.6458-7C=)
c.6428-7C= (n.6428-7C=)
c.6365-7C= (n.6365-7C=)
c.5363-7C= (n.5363-7C=)
c.6564-7C= (n.6564-7C=)
c.6419-7C= (n.6419-7C=)
c.6395-7C= (n.6395-7C=)
c.6455-7C= (n.6455-7C=)
17g.31337361C>GCA915949929NF1c.6410-7C>G (n.6410-7C>G)
c.992-7C>G (n.992-7C>G)
n.1299C>G
c.584-7C>G (n.584-7C>G)
n.3073-7C>G
c.6458-7C>G (n.6458-7C>G)
c.6428-7C>G (n.6428-7C>G)
c.6365-7C>G (n.6365-7C>G)
c.5363-7C>G (n.5363-7C>G)
c.6564-7C>G (n.6564-7C>G)
c.6419-7C>G (n.6419-7C>G)
c.6395-7C>G (n.6395-7C>G)
c.6455-7C>G (n.6455-7C>G)
 ClinVar dbSNP gnomAD v4
17g.31337361C>TCA2255601810NF1c.6410-7C>T (n.6410-7C>T)
c.992-7C>T (n.992-7C>T)
n.1299C>T
c.584-7C>T (n.584-7C>T)
n.3073-7C>T
c.6458-7C>T (n.6458-7C>T)
c.6428-7C>T (n.6428-7C>T)
c.6365-7C>T (n.6365-7C>T)
c.5363-7C>T (n.5363-7C>T)
c.6564-7C>T (n.6564-7C>T)
c.6419-7C>T (n.6419-7C>T)
c.6395-7C>T (n.6395-7C>T)
c.6455-7C>T (n.6455-7C>T)
 ClinVar dbSNP gnomAD v4
17g.31337362T>ACA2733212041NF1c.6410-6T>A (n.6410-6T>A)
c.992-6T>A (n.992-6T>A)
n.1300T>A
c.584-6T>A (n.584-6T>A)
n.3073-6T>A
c.6458-6T>A (n.6458-6T>A)
c.6428-6T>A (n.6428-6T>A)
c.6365-6T>A (n.6365-6T>A)
c.5363-6T>A (n.5363-6T>A)
c.6564-6T>A (n.6564-6T>A)
c.6419-6T>A (n.6419-6T>A)
c.6395-6T>A (n.6395-6T>A)
c.6455-6T>A (n.6455-6T>A)
 dbSNP
17g.31337362T>CCA8487355NF1c.6410-6T>C (n.6410-6T>C)
c.992-6T>C (n.992-6T>C)
n.1300T>C
c.584-6T>C (n.584-6T>C)
n.3073-6T>C
c.6458-6T>C (n.6458-6T>C)
c.6428-6T>C (n.6428-6T>C)
c.6365-6T>C (n.6365-6T>C)
c.5363-6T>C (n.5363-6T>C)
c.6564-6T>C (n.6564-6T>C)
c.6419-6T>C (n.6419-6T>C)
c.6395-6T>C (n.6395-6T>C)
c.6455-6T>C (n.6455-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337362T=CA2255601812NF1c.6410-6T= (n.6410-6T=)
c.992-6T= (n.992-6T=)
n.1300T=
c.584-6T= (n.584-6T=)
n.3073-6T=
c.6458-6T= (n.6458-6T=)
c.6428-6T= (n.6428-6T=)
c.6365-6T= (n.6365-6T=)
c.5363-6T= (n.5363-6T=)
c.6564-6T= (n.6564-6T=)
c.6419-6T= (n.6419-6T=)
c.6395-6T= (n.6395-6T=)
c.6455-6T= (n.6455-6T=)
17g.31337363T>CCA915949930NF1c.6410-5T>C (n.6410-5T>C)
c.992-5T>C (n.992-5T>C)
n.1301T>C
c.584-5T>C (n.584-5T>C)
n.3073-5T>C
c.6458-5T>C (n.6458-5T>C)
c.6428-5T>C (n.6428-5T>C)
c.6365-5T>C (n.6365-5T>C)
c.5363-5T>C (n.5363-5T>C)
c.6564-5T>C (n.6564-5T>C)
c.6419-5T>C (n.6419-5T>C)
c.6395-5T>C (n.6395-5T>C)
c.6455-5T>C (n.6455-5T>C)
 ClinVar dbSNP gnomAD v4
17g.31337363T=CA2255601813NF1c.6410-5T= (n.6410-5T=)
c.992-5T= (n.992-5T=)
n.1301T=
c.584-5T= (n.584-5T=)
n.3073-5T=
c.6458-5T= (n.6458-5T=)
c.6428-5T= (n.6428-5T=)
c.6365-5T= (n.6365-5T=)
c.5363-5T= (n.5363-5T=)
c.6564-5T= (n.6564-5T=)
c.6419-5T= (n.6419-5T=)
c.6395-5T= (n.6395-5T=)
c.6455-5T= (n.6455-5T=)
17g.31337364A=CA2255601814NF1c.6410-4A= (n.6410-4A=)
c.992-4A= (n.992-4A=)
n.1302A=
c.584-4A= (n.584-4A=)
n.3073-4A=
c.6458-4A= (n.6458-4A=)
c.6428-4A= (n.6428-4A=)
c.6365-4A= (n.6365-4A=)
c.5363-4A= (n.5363-4A=)
c.6564-4A= (n.6564-4A=)
c.6419-4A= (n.6419-4A=)
c.6395-4A= (n.6395-4A=)
c.6455-4A= (n.6455-4A=)
17g.31337364A>GCA915949932NF1c.6410-4A>G (n.6410-4A>G)
c.992-4A>G (n.992-4A>G)
n.1302A>G
c.584-4A>G (n.584-4A>G)
n.3073-4A>G
c.6458-4A>G (n.6458-4A>G)
c.6428-4A>G (n.6428-4A>G)
c.6365-4A>G (n.6365-4A>G)
c.5363-4A>G (n.5363-4A>G)
c.6564-4A>G (n.6564-4A>G)
c.6419-4A>G (n.6419-4A>G)
c.6395-4A>G (n.6395-4A>G)
c.6455-4A>G (n.6455-4A>G)
 ClinVar dbSNP
17g.31337364A>TCA2573153834NF1c.6410-4A>T (n.6410-4A>T)
c.992-4A>T (n.992-4A>T)
n.1302A>T
c.584-4A>T (n.584-4A>T)
n.3073-4A>T
c.6458-4A>T (n.6458-4A>T)
c.6428-4A>T (n.6428-4A>T)
c.6365-4A>T (n.6365-4A>T)
c.5363-4A>T (n.5363-4A>T)
c.6564-4A>T (n.6564-4A>T)
c.6419-4A>T (n.6419-4A>T)
c.6395-4A>T (n.6395-4A>T)
c.6455-4A>T (n.6455-4A>T)
 ClinVar dbSNP
17g.31337364_31337365delinsACCA2255601815NF1c.6410-4_6410-3delinsAC (n.6410-4_6410-3delinsAC)
c.992-4_992-3delinsAC (n.992-4_992-3delinsAC)
n.1302_1303delinsAC
c.584-4_584-3delinsAC (n.584-4_584-3delinsAC)
n.3073-4_3073-3delinsAC
c.6458-4_6458-3delinsAC (n.6458-4_6458-3delinsAC)
c.6428-4_6428-3delinsAC (n.6428-4_6428-3delinsAC)
c.6365-4_6365-3delinsAC (n.6365-4_6365-3delinsAC)
c.5363-4_5363-3delinsAC (n.5363-4_5363-3delinsAC)
c.6564-4_6564-3delinsAC (n.6564-4_6564-3delinsAC)
c.6419-4_6419-3delinsAC (n.6419-4_6419-3delinsAC)
c.6395-4_6395-3delinsAC (n.6395-4_6395-3delinsAC)
c.6455-4_6455-3delinsAC (n.6455-4_6455-3delinsAC)
17g.31337365delCA915949934NF1c.6410-3del (n.6410-3del)
c.992-3del (n.992-3del)
n.1303del
c.584-3del (n.584-3del)
n.3073-3del
c.6458-3del (n.6458-3del)
c.6428-3del (n.6428-3del)
c.6365-3del (n.6365-3del)
c.5363-3del (n.5363-3del)
c.6564-3del (n.6564-3del)
c.6419-3del (n.6419-3del)
c.6395-3del (n.6395-3del)
c.6455-3del (n.6455-3del)
 ClinVar dbSNP
17g.31337365C>ACA658684019NF1c.6410-3C>A (n.6410-3C>A)
c.992-3C>A (n.992-3C>A)
n.1303C>A
c.584-3C>A (n.584-3C>A)
n.3073-3C>A
c.6458-3C>A (n.6458-3C>A)
c.6428-3C>A (n.6428-3C>A)
c.6365-3C>A (n.6365-3C>A)
c.5363-3C>A (n.5363-3C>A)
c.6564-3C>A (n.6564-3C>A)
c.6419-3C>A (n.6419-3C>A)
c.6395-3C>A (n.6395-3C>A)
c.6455-3C>A (n.6455-3C>A)
 ClinVar dbSNP
17g.31337365C=CA2255601821NF1c.6410-3C= (n.6410-3C=)
c.992-3C= (n.992-3C=)
n.1303C=
c.584-3C= (n.584-3C=)
n.3073-3C=
c.6458-3C= (n.6458-3C=)
c.6428-3C= (n.6428-3C=)
c.6365-3C= (n.6365-3C=)
c.5363-3C= (n.5363-3C=)
c.6564-3C= (n.6564-3C=)
c.6419-3C= (n.6419-3C=)
c.6395-3C= (n.6395-3C=)
c.6455-3C= (n.6455-3C=)
17g.31337365C>GCA915949933NF1c.6410-3C>G (n.6410-3C>G)
c.992-3C>G (n.992-3C>G)
n.1303C>G
c.584-3C>G (n.584-3C>G)
n.3073-3C>G
c.6458-3C>G (n.6458-3C>G)
c.6428-3C>G (n.6428-3C>G)
c.6365-3C>G (n.6365-3C>G)
c.5363-3C>G (n.5363-3C>G)
c.6564-3C>G (n.6564-3C>G)
c.6419-3C>G (n.6419-3C>G)
c.6395-3C>G (n.6395-3C>G)
c.6455-3C>G (n.6455-3C>G)
 ClinVar dbSNP gnomAD v4
17g.31337365C>TCA191762NF1c.6410-3C>T (n.6410-3C>T)
c.992-3C>T (n.992-3C>T)
n.1303C>T
c.584-3C>T (n.584-3C>T)
n.3073-3C>T
c.6458-3C>T (n.6458-3C>T)
c.6428-3C>T (n.6428-3C>T)
c.6365-3C>T (n.6365-3C>T)
c.5363-3C>T (n.5363-3C>T)
c.6564-3C>T (n.6564-3C>T)
c.6419-3C>T (n.6419-3C>T)
c.6395-3C>T (n.6395-3C>T)
c.6455-3C>T (n.6455-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31337366A=CA2255601834NF1c.6410-2A= (n.6410-2A=)
c.992-2A= (n.992-2A=)
n.1304A=
c.584-2A= (n.584-2A=)
n.3073-2A=
c.6458-2A= (n.6458-2A=)
c.6428-2A= (n.6428-2A=)
c.6365-2A= (n.6365-2A=)
c.5363-2A= (n.5363-2A=)
c.6564-2A= (n.6564-2A=)
c.6419-2A= (n.6419-2A=)
c.6395-2A= (n.6395-2A=)
c.6455-2A= (n.6455-2A=)
17g.31337366A>CCA399012980NF1c.6410-2A>C (n.6410-2A>C)
c.992-2A>C (n.992-2A>C)
n.1304A>C
c.584-2A>C (n.584-2A>C)
n.3073-2A>C
c.6458-2A>C (n.6458-2A>C)
c.6428-2A>C (n.6428-2A>C)
c.6365-2A>C (n.6365-2A>C)
c.5363-2A>C (n.5363-2A>C)
c.6564-2A>C (n.6564-2A>C)
c.6419-2A>C (n.6419-2A>C)
c.6395-2A>C (n.6395-2A>C)
c.6455-2A>C (n.6455-2A>C)
 ClinVar dbSNP
17g.31337366A>GCA16615664NF1c.6410-2A>G (n.6410-2A>G)
c.992-2A>G (n.992-2A>G)
n.1304A>G
c.584-2A>G (n.584-2A>G)
n.3073-2A>G
c.6458-2A>G (n.6458-2A>G)
c.6428-2A>G (n.6428-2A>G)
c.6365-2A>G (n.6365-2A>G)
c.5363-2A>G (n.5363-2A>G)
c.6564-2A>G (n.6564-2A>G)
c.6419-2A>G (n.6419-2A>G)
c.6395-2A>G (n.6395-2A>G)
c.6455-2A>G (n.6455-2A>G)
 ClinVar dbSNP COSMIC COSMIC
17g.31337366A>TCA399012981NF1c.6410-2A>T (n.6410-2A>T)
c.992-2A>T (n.992-2A>T)
n.1304A>T
c.584-2A>T (n.584-2A>T)
n.3073-2A>T
c.6458-2A>T (n.6458-2A>T)
c.6428-2A>T (n.6428-2A>T)
c.6365-2A>T (n.6365-2A>T)
c.5363-2A>T (n.5363-2A>T)
c.6564-2A>T (n.6564-2A>T)
c.6419-2A>T (n.6419-2A>T)
c.6395-2A>T (n.6395-2A>T)
c.6455-2A>T (n.6455-2A>T)
 ClinVar dbSNP
17g.31337367_31337368delCA2697559550NF1c.6410-1_6410del
c.992-1_992del
n.1305_1306del
c.584-1_584del
n.3073-1_3073del
c.6458-1_6458del
c.6428-1_6428del
c.6365-1_6365del
c.5363-1_5363del
c.6564-1_6564del
c.6419-1_6419del
c.6395-1_6395del
c.6455-1_6455del
 ClinVar
17g.31337367delCA2580093359NF1c.6410-1del (n.6410-1del)
c.992-1del (n.992-1del)
n.1305del
c.584-1del (n.584-1del)
n.3073-1del
c.6458-1del (n.6458-1del)
c.6428-1del (n.6428-1del)
c.6365-1del (n.6365-1del)
c.5363-1del (n.5363-1del)
c.6564-1del (n.6564-1del)
c.6419-1del (n.6419-1del)
c.6395-1del (n.6395-1del)
c.6455-1del (n.6455-1del)
 ClinVar
17g.31337367G>ACA8487356NF1c.6410-1G>A (n.6410-1G>A)
c.992-1G>A (n.992-1G>A)
n.1305G>A
c.584-1G>A (n.584-1G>A)
n.3073-1G>A
c.6458-1G>A (n.6458-1G>A)
c.6428-1G>A (n.6428-1G>A)
c.6365-1G>A (n.6365-1G>A)
c.5363-1G>A (n.5363-1G>A)
c.6564-1G>A (n.6564-1G>A)
c.6419-1G>A (n.6419-1G>A)
c.6395-1G>A (n.6395-1G>A)
c.6455-1G>A (n.6455-1G>A)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC
17g.31337367G>CCA399012982NF1c.6410-1G>C (n.6410-1G>C)
c.992-1G>C (n.992-1G>C)
n.1305G>C
c.584-1G>C (n.584-1G>C)
n.3073-1G>C
c.6458-1G>C (n.6458-1G>C)
c.6428-1G>C (n.6428-1G>C)
c.6365-1G>C (n.6365-1G>C)
c.5363-1G>C (n.5363-1G>C)
c.6564-1G>C (n.6564-1G>C)
c.6419-1G>C (n.6419-1G>C)
c.6395-1G>C (n.6395-1G>C)
c.6455-1G>C (n.6455-1G>C)
 dbSNP
17g.31337367G=CA2255601838NF1c.6410-1G= (n.6410-1G=)
c.992-1G= (n.992-1G=)
n.1305G=
c.584-1G= (n.584-1G=)
n.3073-1G=
c.6458-1G= (n.6458-1G=)
c.6428-1G= (n.6428-1G=)
c.6365-1G= (n.6365-1G=)
c.5363-1G= (n.5363-1G=)
c.6564-1G= (n.6564-1G=)
c.6419-1G= (n.6419-1G=)
c.6395-1G= (n.6395-1G=)
c.6455-1G= (n.6455-1G=)
17g.31337367G>TCA399012983NF1c.6410-1G>T (n.6410-1G>T)
c.992-1G>T (n.992-1G>T)
n.1305G>T
c.584-1G>T (n.584-1G>T)
n.3073-1G>T
c.6458-1G>T (n.6458-1G>T)
c.6428-1G>T (n.6428-1G>T)
c.6365-1G>T (n.6365-1G>T)
c.5363-1G>T (n.5363-1G>T)
c.6564-1G>T (n.6564-1G>T)
c.6419-1G>T (n.6419-1G>T)
c.6395-1G>T (n.6395-1G>T)
c.6455-1G>T (n.6455-1G>T)
 ClinVar dbSNP
17g.31337368A>CCA399012986NF1c.6410A>C (p.Glu2137Ala)
c.992A>C (p.Glu331Ala)
n.1306A>C
c.584A>C (p.Glu195Ala)
n.3073A>C
c.6458A>C (p.Glu2153Ala)
c.6428A>C (p.Glu2143Ala)
c.6365A>C (p.Glu2122Ala)
c.5363A>C (p.Glu1788Ala)
c.6564A>C (n.6564A>C)
c.6419A>C (p.Glu2140Ala)
c.6395A>C (p.Glu2132Ala)
c.6455A>C (p.Glu2152Ala)
17g.31337368A>GCA399012985NF1c.6410A>G (p.Glu2137Gly)
c.992A>G (p.Glu331Gly)
n.1306A>G
c.584A>G (p.Glu195Gly)
n.3073A>G
c.6458A>G (p.Glu2153Gly)
c.6428A>G (p.Glu2143Gly)
c.6365A>G (p.Glu2122Gly)
c.5363A>G (p.Glu1788Gly)
c.6564A>G (n.6564A>G)
c.6419A>G (p.Glu2140Gly)
c.6395A>G (p.Glu2132Gly)
c.6455A>G (p.Glu2152Gly)
17g.31337368A>TCA399012984NF1c.6410A>T (p.Glu2137Val)
c.992A>T (p.Glu331Val)
n.1306A>T
c.584A>T (p.Glu195Val)
n.3073A>T
c.6458A>T (p.Glu2153Val)
c.6428A>T (p.Glu2143Val)
c.6365A>T (p.Glu2122Val)
c.5363A>T (p.Glu1788Val)
c.6564A>T (n.6564A>T)
c.6419A>T (p.Glu2140Val)
c.6395A>T (p.Glu2132Val)
c.6455A>T (p.Glu2152Val)
 dbSNP
17g.31337369A>CCA399012987NF1c.6411A>C (p.Glu2137Asp)
c.993A>C (p.Glu331Asp)
n.1307A>C
c.585A>C (p.Glu195Asp)
n.3074A>C
c.6459A>C (p.Glu2153Asp)
c.6429A>C (p.Glu2143Asp)
c.6366A>C (p.Glu2122Asp)
c.5364A>C (p.Glu1788Asp)
c.6565A>C (n.6565A>C)
c.6420A>C (p.Glu2140Asp)
c.6396A>C (p.Glu2132Asp)
c.6456A>C (p.Glu2152Asp)
 dbSNP
17g.31337369A>GCA499234008NF1c.6411A>G (p.Glu2137=)
c.993A>G (p.Glu331=)
n.1307A>G
c.585A>G (p.Glu195=)
n.3074A>G
c.6459A>G (p.Glu2153=)
c.6429A>G (p.Glu2143=)
c.6366A>G (p.Glu2122=)
c.5364A>G (p.Glu1788=)
c.6565A>G (n.6565A>G)
c.6420A>G (p.Glu2140=)
c.6396A>G (p.Glu2132=)
c.6456A>G (p.Glu2152=)
17g.31337369A>TCA399012988NF1c.6411A>T (p.Glu2137Asp)
c.993A>T (p.Glu331Asp)
n.1307A>T
c.585A>T (p.Glu195Asp)
n.3074A>T
c.6459A>T (p.Glu2153Asp)
c.6429A>T (p.Glu2143Asp)
c.6366A>T (p.Glu2122Asp)
c.5364A>T (p.Glu1788Asp)
c.6565A>T (n.6565A>T)
c.6420A>T (p.Glu2140Asp)
c.6396A>T (p.Glu2132Asp)
c.6456A>T (p.Glu2152Asp)
 dbSNP
17g.31337371_31337395delCA2637076634NF1c.6413_6437del (p.Glu2138ValfsTer2)
c.995_1019del (p.Glu332ValfsTer2)
n.1309_1333del
c.587_611del (p.Glu196ValfsTer2)
n.3076_3100del
c.6461_6485del (p.Glu2154ValfsTer2)
c.6431_6455del (p.Glu2144ValfsTer2)
c.6368_6392del (p.Glu2123ValfsTer2)
c.5366_5390del (p.Glu1789ValfsTer2)
c.6567_6591del (n.6567_6591del)
c.6422_6446del (p.Glu2141ValfsTer2)
c.6398_6422del (p.Glu2133ValfsTer2)
c.6458_6482del (p.Glu2153ValfsTer2)
 gnomAD v4
17g.31337370G>ACA399012989NF1c.6412G>A (p.Glu2138Lys)
c.994G>A (p.Glu332Lys)
n.1308G>A
c.586G>A (p.Glu196Lys)
n.3075G>A
c.6460G>A (p.Glu2154Lys)
c.6430G>A (p.Glu2144Lys)
c.6367G>A (p.Glu2123Lys)
c.5365G>A (p.Glu1789Lys)
c.6566G>A (n.6566G>A)
c.6421G>A (p.Glu2141Lys)
c.6397G>A (p.Glu2133Lys)
c.6457G>A (p.Glu2153Lys)
 ClinVar dbSNP
17g.31337370G>CCA399012990NF1c.6412G>C (p.Glu2138Gln)
c.994G>C (p.Glu332Gln)
n.1308G>C
c.586G>C (p.Glu196Gln)
n.3075G>C
c.6460G>C (p.Glu2154Gln)
c.6430G>C (p.Glu2144Gln)
c.6367G>C (p.Glu2123Gln)
c.5365G>C (p.Glu1789Gln)
c.6566G>C (n.6566G>C)
c.6421G>C (p.Glu2141Gln)
c.6397G>C (p.Glu2133Gln)
c.6457G>C (p.Glu2153Gln)
 ClinVar dbSNP
17g.31337370G=CA2255601848NF1c.6412G= (p.Glu2138=)
c.994G= (p.Glu332=)
n.1308G=
c.586G= (p.Glu196=)
n.3075G=
c.6460G= (p.Glu2154=)
c.6430G= (p.Glu2144=)
c.6367G= (p.Glu2123=)
c.5365G= (p.Glu1789=)
c.6566G= (n.6566G=)
c.6421G= (p.Glu2141=)
c.6397G= (p.Glu2133=)
c.6457G= (p.Glu2153=)
17g.31337370G>TCA399012991NF1c.6412G>T (p.Glu2138Ter)
c.994G>T (p.Glu332Ter)
n.1308G>T
c.586G>T (p.Glu196Ter)
n.3075G>T
c.6460G>T (p.Glu2154Ter)
c.6430G>T (p.Glu2144Ter)
c.6367G>T (p.Glu2123Ter)
c.5365G>T (p.Glu1789Ter)
c.6566G>T (n.6566G>T)
c.6421G>T (p.Glu2141Ter)
c.6397G>T (p.Glu2133Ter)
c.6457G>T (p.Glu2153Ter)
 ClinVar dbSNP
17g.31337371A=CA2255601852NF1c.6413A= (p.Glu2138=)
c.995A= (p.Glu332=)
n.1309A=
c.587A= (p.Glu196=)
n.3076A=
c.6461A= (p.Glu2154=)
c.6431A= (p.Glu2144=)
c.6368A= (p.Glu2123=)
c.5366A= (p.Glu1789=)
c.6567A= (n.6567A=)
c.6422A= (p.Glu2141=)
c.6398A= (p.Glu2133=)
c.6458A= (p.Glu2153=)
17g.31337371A>CCA399012992NF1c.6413A>C (p.Glu2138Ala)
c.995A>C (p.Glu332Ala)
n.1309A>C
c.587A>C (p.Glu196Ala)
n.3076A>C
c.6461A>C (p.Glu2154Ala)
c.6431A>C (p.Glu2144Ala)
c.6368A>C (p.Glu2123Ala)
c.5366A>C (p.Glu1789Ala)
c.6567A>C (n.6567A>C)
c.6422A>C (p.Glu2141Ala)
c.6398A>C (p.Glu2133Ala)
c.6458A>C (p.Glu2153Ala)
17g.31337371A>GCA399012993NF1c.6413A>G (p.Glu2138Gly)
c.995A>G (p.Glu332Gly)
n.1309A>G
c.587A>G (p.Glu196Gly)
n.3076A>G
c.6461A>G (p.Glu2154Gly)
c.6431A>G (p.Glu2144Gly)
c.6368A>G (p.Glu2123Gly)
c.5366A>G (p.Glu1789Gly)
c.6567A>G (n.6567A>G)
c.6422A>G (p.Glu2141Gly)
c.6398A>G (p.Glu2133Gly)
c.6458A>G (p.Glu2153Gly)
 ClinVar dbSNP
17g.31337371A>TCA399012994NF1c.6413A>T (p.Glu2138Val)
c.995A>T (p.Glu332Val)
n.1309A>T
c.587A>T (p.Glu196Val)
n.3076A>T
c.6461A>T (p.Glu2154Val)
c.6431A>T (p.Glu2144Val)
c.6368A>T (p.Glu2123Val)
c.5366A>T (p.Glu1789Val)
c.6567A>T (n.6567A>T)
c.6422A>T (p.Glu2141Val)
c.6398A>T (p.Glu2133Val)
c.6458A>T (p.Glu2153Val)
 dbSNP
17g.31337372G>ACA499234009NF1c.6414G>A (p.Glu2138=)
c.996G>A (p.Glu332=)
n.1310G>A
c.588G>A (p.Glu196=)
n.3077G>A
c.6462G>A (p.Glu2154=)
c.6432G>A (p.Glu2144=)
c.6369G>A (p.Glu2123=)
c.5367G>A (p.Glu1789=)
c.6568G>A (n.6568G>A)
c.6423G>A (p.Glu2141=)
c.6399G>A (p.Glu2133=)
c.6459G>A (p.Glu2153=)
 ClinVar dbSNP gnomAD v4
17g.31337372G>CCA399012995NF1c.6414G>C (p.Glu2138Asp)
c.996G>C (p.Glu332Asp)
n.1310G>C
c.588G>C (p.Glu196Asp)
n.3077G>C
c.6462G>C (p.Glu2154Asp)
c.6432G>C (p.Glu2144Asp)
c.6369G>C (p.Glu2123Asp)
c.5367G>C (p.Glu1789Asp)
c.6568G>C (n.6568G>C)
c.6423G>C (p.Glu2141Asp)
c.6399G>C (p.Glu2133Asp)
c.6459G>C (p.Glu2153Asp)
 ClinVar dbSNP gnomAD v4
17g.31337372G>TCA399012996NF1c.6414G>T (p.Glu2138Asp)
c.996G>T (p.Glu332Asp)
n.1310G>T
c.588G>T (p.Glu196Asp)
n.3077G>T
c.6462G>T (p.Glu2154Asp)
c.6432G>T (p.Glu2144Asp)
c.6369G>T (p.Glu2123Asp)
c.5367G>T (p.Glu1789Asp)
c.6568G>T (n.6568G>T)
c.6423G>T (p.Glu2141Asp)
c.6399G>T (p.Glu2133Asp)
c.6459G>T (p.Glu2153Asp)
 ClinVar
17g.31337373A>CCA399012997NF1c.6415A>C (p.Thr2139Pro)
c.997A>C (p.Thr333Pro)
n.1311A>C
c.589A>C (p.Thr197Pro)
n.3078A>C
c.6463A>C (p.Thr2155Pro)
c.6433A>C (p.Thr2145Pro)
c.6370A>C (p.Thr2124Pro)
c.5368A>C (p.Thr1790Pro)
c.6569A>C (n.6569A>C)
c.6424A>C (p.Thr2142Pro)
c.6400A>C (p.Thr2134Pro)
c.6460A>C (p.Thr2154Pro)
 dbSNP
17g.31337373A>GCA399012998NF1c.6415A>G (p.Thr2139Ala)
c.997A>G (p.Thr333Ala)
n.1311A>G
c.589A>G (p.Thr197Ala)
n.3078A>G
c.6463A>G (p.Thr2155Ala)
c.6433A>G (p.Thr2145Ala)
c.6370A>G (p.Thr2124Ala)
c.5368A>G (p.Thr1790Ala)
c.6569A>G (n.6569A>G)
c.6424A>G (p.Thr2142Ala)
c.6400A>G (p.Thr2134Ala)
c.6460A>G (p.Thr2154Ala)
17g.31337373A>TCA399012999NF1c.6415A>T (p.Thr2139Ser)
c.997A>T (p.Thr333Ser)
n.1311A>T
c.589A>T (p.Thr197Ser)
n.3078A>T
c.6463A>T (p.Thr2155Ser)
c.6433A>T (p.Thr2145Ser)
c.6370A>T (p.Thr2124Ser)
c.5368A>T (p.Thr1790Ser)
c.6569A>T (n.6569A>T)
c.6424A>T (p.Thr2142Ser)
c.6400A>T (p.Thr2134Ser)
c.6460A>T (p.Thr2154Ser)
 dbSNP
17g.31337374C>ACA399013002NF1c.6416C>A (p.Thr2139Asn)
c.998C>A (p.Thr333Asn)
n.1312C>A
c.590C>A (p.Thr197Asn)
n.3079C>A
c.6464C>A (p.Thr2155Asn)
c.6434C>A (p.Thr2145Asn)
c.6371C>A (p.Thr2124Asn)
c.5369C>A (p.Thr1790Asn)
c.6570C>A (n.6570C>A)
c.6425C>A (p.Thr2142Asn)
c.6401C>A (p.Thr2134Asn)
c.6461C>A (p.Thr2154Asn)
 dbSNP
17g.31337374C=CA2255601857NF1c.6416C= (p.Thr2139=)
c.998C= (p.Thr333=)
n.1312C=
c.590C= (p.Thr197=)
n.3079C=
c.6464C= (p.Thr2155=)
c.6434C= (p.Thr2145=)
c.6371C= (p.Thr2124=)
c.5369C= (p.Thr1790=)
c.6570C= (n.6570C=)
c.6425C= (p.Thr2142=)
c.6401C= (p.Thr2134=)
c.6461C= (p.Thr2154=)
17g.31337374C>GCA399013000NF1c.6416C>G (p.Thr2139Ser)
c.998C>G (p.Thr333Ser)
n.1312C>G
c.590C>G (p.Thr197Ser)
n.3079C>G
c.6464C>G (p.Thr2155Ser)
c.6434C>G (p.Thr2145Ser)
c.6371C>G (p.Thr2124Ser)
c.5369C>G (p.Thr1790Ser)
c.6570C>G (n.6570C>G)
c.6425C>G (p.Thr2142Ser)
c.6401C>G (p.Thr2134Ser)
c.6461C>G (p.Thr2154Ser)
 dbSNP
17g.31337374C>TCA399013001NF1c.6416C>T (p.Thr2139Ile)
c.998C>T (p.Thr333Ile)
n.1312C>T
c.590C>T (p.Thr197Ile)
n.3079C>T
c.6464C>T (p.Thr2155Ile)
c.6434C>T (p.Thr2145Ile)
c.6371C>T (p.Thr2124Ile)
c.5369C>T (p.Thr1790Ile)
c.6570C>T (n.6570C>T)
c.6425C>T (p.Thr2142Ile)
c.6401C>T (p.Thr2134Ile)
c.6461C>T (p.Thr2154Ile)
 ClinVar dbSNP
17g.31337375delCA2580093362NF1c.6417del (p.Lys2140SerfsTer4)
c.999del (p.Lys334SerfsTer4)
n.1313del
c.591del (p.Lys198SerfsTer4)
n.3080del
c.6465del (p.Lys2156SerfsTer4)
c.6435del (p.Lys2146SerfsTer4)
c.6372del (p.Lys2125SerfsTer4)
c.5370del (p.Lys1791SerfsTer4)
c.6571del (n.6571del)
c.6426del (p.Lys2143SerfsTer4)
c.6402del (p.Lys2135SerfsTer4)
c.6462del (p.Lys2155SerfsTer4)
 ClinVar
17g.31337375C>ACA499234010NF1c.6417C>A (p.Thr2139=)
c.999C>A (p.Thr333=)
n.1313C>A
c.591C>A (p.Thr197=)
n.3080C>A
c.6465C>A (p.Thr2155=)
c.6435C>A (p.Thr2145=)
c.6372C>A (p.Thr2124=)
c.5370C>A (p.Thr1790=)
c.6571C>A (n.6571C>A)
c.6426C>A (p.Thr2142=)
c.6402C>A (p.Thr2134=)
c.6462C>A (p.Thr2154=)
17g.31337375C=CA2255601859NF1c.6417C= (p.Thr2139=)
c.999C= (p.Thr333=)
n.1313C=
c.591C= (p.Thr197=)
n.3080C=
c.6465C= (p.Thr2155=)
c.6435C= (p.Thr2145=)
c.6372C= (p.Thr2124=)
c.5370C= (p.Thr1790=)
c.6571C= (n.6571C=)
c.6426C= (p.Thr2142=)
c.6402C= (p.Thr2134=)
c.6462C= (p.Thr2154=)
17g.31337375C>GCA499234011NF1c.6417C>G (p.Thr2139=)
c.999C>G (p.Thr333=)
n.1313C>G
c.591C>G (p.Thr197=)
n.3080C>G
c.6465C>G (p.Thr2155=)
c.6435C>G (p.Thr2145=)
c.6372C>G (p.Thr2124=)
c.5370C>G (p.Thr1790=)
c.6571C>G (n.6571C>G)
c.6426C>G (p.Thr2142=)
c.6402C>G (p.Thr2134=)
c.6462C>G (p.Thr2154=)
 gnomAD v4
17g.31337375C>TCA499234012NF1c.6417C>T (p.Thr2139=)
c.999C>T (p.Thr333=)
n.1313C>T
c.591C>T (p.Thr197=)
n.3080C>T
c.6465C>T (p.Thr2155=)
c.6435C>T (p.Thr2145=)
c.6372C>T (p.Thr2124=)
c.5370C>T (p.Thr1790=)
c.6571C>T (n.6571C>T)
c.6426C>T (p.Thr2142=)
c.6402C>T (p.Thr2134=)
c.6462C>T (p.Thr2154=)
 ClinVar dbSNP
17g.31337379_31337382delCA2739267421NF1c.6421_6424del (p.Gln2141PhefsTer2)
c.1003_1006del (p.Gln335PhefsTer2)
n.1317_1320del
c.595_598del (p.Gln199PhefsTer2)
n.3084_3087del
c.6469_6472del (p.Gln2157PhefsTer2)
c.6439_6442del (p.Gln2147PhefsTer2)
c.6376_6379del (p.Gln2126PhefsTer2)
c.5374_5377del (p.Gln1792PhefsTer2)
c.6575_6578del (n.6575_6578del)
c.6430_6433del (p.Gln2144PhefsTer2)
c.6406_6409del (p.Gln2136PhefsTer2)
c.6466_6469del (p.Gln2156PhefsTer2)
 ClinVar
17g.31337376A=CA2255601860NF1c.6418A= (p.Lys2140=)
c.1000A= (p.Lys334=)
n.1314A=
c.592A= (p.Lys198=)
n.3081A=
c.6466A= (p.Lys2156=)
c.6436A= (p.Lys2146=)
c.6373A= (p.Lys2125=)
c.5371A= (p.Lys1791=)
c.6572A= (n.6572A=)
c.6427A= (p.Lys2143=)
c.6403A= (p.Lys2135=)
c.6463A= (p.Lys2155=)
17g.31337376A>CCA399013003NF1c.6418A>C (p.Lys2140Gln)
c.1000A>C (p.Lys334Gln)
n.1314A>C
c.592A>C (p.Lys198Gln)
n.3081A>C
c.6466A>C (p.Lys2156Gln)
c.6436A>C (p.Lys2146Gln)
c.6373A>C (p.Lys2125Gln)
c.5371A>C (p.Lys1791Gln)
c.6572A>C (n.6572A>C)
c.6427A>C (p.Lys2143Gln)
c.6403A>C (p.Lys2135Gln)
c.6463A>C (p.Lys2155Gln)
17g.31337376A>GCA399013004NF1c.6418A>G (p.Lys2140Glu)
c.1000A>G (p.Lys334Glu)
n.1314A>G
c.592A>G (p.Lys198Glu)
n.3081A>G
c.6466A>G (p.Lys2156Glu)
c.6436A>G (p.Lys2146Glu)
c.6373A>G (p.Lys2125Glu)
c.5371A>G (p.Lys1791Glu)
c.6572A>G (n.6572A>G)
c.6427A>G (p.Lys2143Glu)
c.6403A>G (p.Lys2135Glu)
c.6463A>G (p.Lys2155Glu)
 ClinVar dbSNP
17g.31337376A>TCA399013005NF1c.6418A>T (p.Lys2140Ter)
c.1000A>T (p.Lys334Ter)
n.1314A>T
c.592A>T (p.Lys198Ter)
n.3081A>T
c.6466A>T (p.Lys2156Ter)
c.6436A>T (p.Lys2146Ter)
c.6373A>T (p.Lys2125Ter)
c.5371A>T (p.Lys1791Ter)
c.6572A>T (n.6572A>T)
c.6427A>T (p.Lys2143Ter)
c.6403A>T (p.Lys2135Ter)
c.6463A>T (p.Lys2155Ter)
 ClinVar dbSNP
17g.31337377A=CA2255601861NF1c.6419A= (p.Lys2140=)
c.1001A= (p.Lys334=)
n.1315A=
c.593A= (p.Lys198=)
n.3082A=
c.6467A= (p.Lys2156=)
c.6437A= (p.Lys2146=)
c.6374A= (p.Lys2125=)
c.5372A= (p.Lys1791=)
c.6573A= (n.6573A=)
c.6428A= (p.Lys2143=)
c.6404A= (p.Lys2135=)
c.6464A= (p.Lys2155=)
17g.31337377A>CCA399013006NF1c.6419A>C (p.Lys2140Thr)
c.1001A>C (p.Lys334Thr)
n.1315A>C
c.593A>C (p.Lys198Thr)
n.3082A>C
c.6467A>C (p.Lys2156Thr)
c.6437A>C (p.Lys2146Thr)
c.6374A>C (p.Lys2125Thr)
c.5372A>C (p.Lys1791Thr)
c.6573A>C (n.6573A>C)
c.6428A>C (p.Lys2143Thr)
c.6404A>C (p.Lys2135Thr)
c.6464A>C (p.Lys2155Thr)
17g.31337377A>GCA399013007NF1c.6419A>G (p.Lys2140Arg)
c.1001A>G (p.Lys334Arg)
n.1315A>G
c.593A>G (p.Lys198Arg)
n.3082A>G
c.6467A>G (p.Lys2156Arg)
c.6437A>G (p.Lys2146Arg)
c.6374A>G (p.Lys2125Arg)
c.5372A>G (p.Lys1791Arg)
c.6573A>G (n.6573A>G)
c.6428A>G (p.Lys2143Arg)
c.6404A>G (p.Lys2135Arg)
c.6464A>G (p.Lys2155Arg)
 ClinVar dbSNP
17g.31337377A>TCA399013008NF1c.6419A>T (p.Lys2140Met)
c.1001A>T (p.Lys334Met)
n.1315A>T
c.593A>T (p.Lys198Met)
n.3082A>T
c.6467A>T (p.Lys2156Met)
c.6437A>T (p.Lys2146Met)
c.6374A>T (p.Lys2125Met)
c.5372A>T (p.Lys1791Met)
c.6573A>T (n.6573A>T)
c.6428A>T (p.Lys2143Met)
c.6404A>T (p.Lys2135Met)
c.6464A>T (p.Lys2155Met)
 dbSNP
17g.31337378G>ACA499234013NF1c.6420G>A (p.Lys2140=)
c.1002G>A (p.Lys334=)
n.1316G>A
c.594G>A (p.Lys198=)
n.3083G>A
c.6468G>A (p.Lys2156=)
c.6438G>A (p.Lys2146=)
c.6375G>A (p.Lys2125=)
c.5373G>A (p.Lys1791=)
c.6574G>A (n.6574G>A)
c.6429G>A (p.Lys2143=)
c.6405G>A (p.Lys2135=)
c.6465G>A (p.Lys2155=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31337378G>CCA399013009NF1c.6420G>C (p.Lys2140Asn)
c.1002G>C (p.Lys334Asn)
n.1316G>C
c.594G>C (p.Lys198Asn)
n.3083G>C
c.6468G>C (p.Lys2156Asn)
c.6438G>C (p.Lys2146Asn)
c.6375G>C (p.Lys2125Asn)
c.5373G>C (p.Lys1791Asn)
c.6574G>C (n.6574G>C)
c.6429G>C (p.Lys2143Asn)
c.6405G>C (p.Lys2135Asn)
c.6465G>C (p.Lys2155Asn)
 dbSNP
17g.31337378G=CA2255601866NF1c.6420G= (p.Lys2140=)
c.1002G= (p.Lys334=)
n.1316G=
c.594G= (p.Lys198=)
n.3083G=
c.6468G= (p.Lys2156=)
c.6438G= (p.Lys2146=)
c.6375G= (p.Lys2125=)
c.5373G= (p.Lys1791=)
c.6574G= (n.6574G=)
c.6429G= (p.Lys2143=)
c.6405G= (p.Lys2135=)
c.6465G= (p.Lys2155=)
17g.31337378G>TCA399013010NF1c.6420G>T (p.Lys2140Asn)
c.1002G>T (p.Lys334Asn)
n.1316G>T
c.594G>T (p.Lys198Asn)
n.3083G>T
c.6468G>T (p.Lys2156Asn)
c.6438G>T (p.Lys2146Asn)
c.6375G>T (p.Lys2125Asn)
c.5373G>T (p.Lys1791Asn)
c.6574G>T (n.6574G>T)
c.6429G>T (p.Lys2143Asn)
c.6405G>T (p.Lys2135Asn)
c.6465G>T (p.Lys2155Asn)
17g.31337379C>ACA399013011NF1c.6421C>A (p.Gln2141Lys)
c.1003C>A (p.Gln335Lys)
n.1317C>A
c.595C>A (p.Gln199Lys)
n.3084C>A
c.6469C>A (p.Gln2157Lys)
c.6439C>A (p.Gln2147Lys)
c.6376C>A (p.Gln2126Lys)
c.5374C>A (p.Gln1792Lys)
c.6575C>A (n.6575C>A)
c.6430C>A (p.Gln2144Lys)
c.6406C>A (p.Gln2136Lys)
c.6466C>A (p.Gln2156Lys)
 ClinVar dbSNP
17g.31337379C=CA2255601869NF1c.6421C= (p.Gln2141=)
c.1003C= (p.Gln335=)
n.1317C=
c.595C= (p.Gln199=)
n.3084C=
c.6469C= (p.Gln2157=)
c.6439C= (p.Gln2147=)
c.6376C= (p.Gln2126=)
c.5374C= (p.Gln1792=)
c.6575C= (n.6575C=)
c.6430C= (p.Gln2144=)
c.6406C= (p.Gln2136=)
c.6466C= (p.Gln2156=)
17g.31337379C>GCA399013012NF1c.6421C>G (p.Gln2141Glu)
c.1003C>G (p.Gln335Glu)
n.1317C>G
c.595C>G (p.Gln199Glu)
n.3084C>G
c.6469C>G (p.Gln2157Glu)
c.6439C>G (p.Gln2147Glu)
c.6376C>G (p.Gln2126Glu)
c.5374C>G (p.Gln1792Glu)
c.6575C>G (n.6575C>G)
c.6430C>G (p.Gln2144Glu)
c.6406C>G (p.Gln2136Glu)
c.6466C>G (p.Gln2156Glu)
 dbSNP gnomAD v4
17g.31337379C>TCA399013013NF1c.6421C>T (p.Gln2141Ter)
c.1003C>T (p.Gln335Ter)
n.1317C>T
c.595C>T (p.Gln199Ter)
n.3084C>T
c.6469C>T (p.Gln2157Ter)
c.6439C>T (p.Gln2147Ter)
c.6376C>T (p.Gln2126Ter)
c.5374C>T (p.Gln1792Ter)
c.6575C>T (n.6575C>T)
c.6430C>T (p.Gln2144Ter)
c.6406C>T (p.Gln2136Ter)
c.6466C>T (p.Gln2156Ter)
 ClinVar dbSNP
17g.31337380A=CA2255601873NF1c.6422A= (p.Gln2141=)
c.1004A= (p.Gln335=)
n.1318A=
c.596A= (p.Gln199=)
n.3085A=
c.6470A= (p.Gln2157=)
c.6440A= (p.Gln2147=)
c.6377A= (p.Gln2126=)
c.5375A= (p.Gln1792=)
c.6576A= (n.6576A=)
c.6431A= (p.Gln2144=)
c.6407A= (p.Gln2136=)
c.6467A= (p.Gln2156=)
17g.31337380A>CCA399013016NF1c.6422A>C (p.Gln2141Pro)
c.1004A>C (p.Gln335Pro)
n.1318A>C
c.596A>C (p.Gln199Pro)
n.3085A>C
c.6470A>C (p.Gln2157Pro)
c.6440A>C (p.Gln2147Pro)
c.6377A>C (p.Gln2126Pro)
c.5375A>C (p.Gln1792Pro)
c.6576A>C (n.6576A>C)
c.6431A>C (p.Gln2144Pro)
c.6407A>C (p.Gln2136Pro)
c.6467A>C (p.Gln2156Pro)
17g.31337380A>GCA399013015NF1c.6422A>G (p.Gln2141Arg)
c.1004A>G (p.Gln335Arg)
n.1318A>G
c.596A>G (p.Gln199Arg)
n.3085A>G
c.6470A>G (p.Gln2157Arg)
c.6440A>G (p.Gln2147Arg)
c.6377A>G (p.Gln2126Arg)
c.5375A>G (p.Gln1792Arg)
c.6576A>G (n.6576A>G)
c.6431A>G (p.Gln2144Arg)
c.6407A>G (p.Gln2136Arg)
c.6467A>G (p.Gln2156Arg)
 ClinVar dbSNP
17g.31337380A>TCA399013014NF1c.6422A>T (p.Gln2141Leu)
c.1004A>T (p.Gln335Leu)
n.1318A>T
c.596A>T (p.Gln199Leu)
n.3085A>T
c.6470A>T (p.Gln2157Leu)
c.6440A>T (p.Gln2147Leu)
c.6377A>T (p.Gln2126Leu)
c.5375A>T (p.Gln1792Leu)
c.6576A>T (n.6576A>T)
c.6431A>T (p.Gln2144Leu)
c.6407A>T (p.Gln2136Leu)
c.6467A>T (p.Gln2156Leu)
 dbSNP
17g.31337381A=CA2255601874NF1c.6423A= (p.Gln2141=)
c.1005A= (p.Gln335=)
n.1319A=
c.597A= (p.Gln199=)
n.3086A=
c.6471A= (p.Gln2157=)
c.6441A= (p.Gln2147=)
c.6378A= (p.Gln2126=)
c.5376A= (p.Gln1792=)
c.6577A= (n.6577A=)
c.6432A= (p.Gln2144=)
c.6408A= (p.Gln2136=)
c.6468A= (p.Gln2156=)
17g.31337381A>CCA399013017NF1c.6423A>C (p.Gln2141His)
c.1005A>C (p.Gln335His)
n.1319A>C
c.597A>C (p.Gln199His)
n.3086A>C
c.6471A>C (p.Gln2157His)
c.6441A>C (p.Gln2147His)
c.6378A>C (p.Gln2126His)
c.5376A>C (p.Gln1792His)
c.6577A>C (n.6577A>C)
c.6432A>C (p.Gln2144His)
c.6408A>C (p.Gln2136His)
c.6468A>C (p.Gln2156His)
 ClinVar dbSNP
17g.31337381A>GCA499234014NF1c.6423A>G (p.Gln2141=)
c.1005A>G (p.Gln335=)
n.1319A>G
c.597A>G (p.Gln199=)
n.3086A>G
c.6471A>G (p.Gln2157=)
c.6441A>G (p.Gln2147=)
c.6378A>G (p.Gln2126=)
c.5376A>G (p.Gln1792=)
c.6577A>G (n.6577A>G)
c.6432A>G (p.Gln2144=)
c.6408A>G (p.Gln2136=)
c.6468A>G (p.Gln2156=)
 ClinVar
17g.31337381A>TCA399013018NF1c.6423A>T (p.Gln2141His)
c.1005A>T (p.Gln335His)
n.1319A>T
c.597A>T (p.Gln199His)
n.3086A>T
c.6471A>T (p.Gln2157His)
c.6441A>T (p.Gln2147His)
c.6378A>T (p.Gln2126His)
c.5376A>T (p.Gln1792His)
c.6577A>T (n.6577A>T)
c.6432A>T (p.Gln2144His)
c.6408A>T (p.Gln2136His)
c.6468A>T (p.Gln2156His)
 dbSNP
17g.31337382G>ACA8487357NF1c.6424G>A (p.Val2142Ile)
c.1006G>A (p.Val336Ile)
n.1320G>A
c.598G>A (p.Val200Ile)
n.3087G>A
c.6472G>A (p.Val2158Ile)
c.6442G>A (p.Val2148Ile)
c.6379G>A (p.Val2127Ile)
c.5377G>A (p.Val1793Ile)
c.6578G>A (n.6578G>A)
c.6433G>A (p.Val2145Ile)
c.6409G>A (p.Val2137Ile)
c.6469G>A (p.Val2157Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31337382G>CCA399013020NF1c.6424G>C (p.Val2142Leu)
c.1006G>C (p.Val336Leu)
n.1320G>C
c.598G>C (p.Val200Leu)
n.3087G>C
c.6472G>C (p.Val2158Leu)
c.6442G>C (p.Val2148Leu)
c.6379G>C (p.Val2127Leu)
c.5377G>C (p.Val1793Leu)
c.6578G>C (n.6578G>C)
c.6433G>C (p.Val2145Leu)
c.6409G>C (p.Val2137Leu)
c.6469G>C (p.Val2157Leu)
17g.31337382G=CA2255601877NF1c.6424G= (p.Val2142=)
c.1006G= (p.Val336=)
n.1320G=
c.598G= (p.Val200=)
n.3087G=
c.6472G= (p.Val2158=)
c.6442G= (p.Val2148=)
c.6379G= (p.Val2127=)
c.5377G= (p.Val1793=)
c.6578G= (n.6578G=)
c.6433G= (p.Val2145=)
c.6409G= (p.Val2137=)
c.6469G= (p.Val2157=)
17g.31337382G>TCA399013019NF1c.6424G>T (p.Val2142Phe)
c.1006G>T (p.Val336Phe)
n.1320G>T
c.598G>T (p.Val200Phe)
n.3087G>T
c.6472G>T (p.Val2158Phe)
c.6442G>T (p.Val2148Phe)
c.6379G>T (p.Val2127Phe)
c.5377G>T (p.Val1793Phe)
c.6578G>T (n.6578G>T)
c.6433G>T (p.Val2145Phe)
c.6409G>T (p.Val2137Phe)
c.6469G>T (p.Val2157Phe)
 gnomAD v4
17g.31337383T>ACA399013021NF1c.6425T>A (p.Val2142Asp)
c.1007T>A (p.Val336Asp)
n.1321T>A
c.599T>A (p.Val200Asp)
n.3088T>A
c.6473T>A (p.Val2158Asp)
c.6443T>A (p.Val2148Asp)
c.6380T>A (p.Val2127Asp)
c.5378T>A (p.Val1793Asp)
c.6579T>A (n.6579T>A)
c.6434T>A (p.Val2145Asp)
c.6410T>A (p.Val2137Asp)
c.6470T>A (p.Val2157Asp)
 dbSNP
17g.31337383T>CCA399013022NF1c.6425T>C (p.Val2142Ala)
c.1007T>C (p.Val336Ala)
n.1321T>C
c.599T>C (p.Val200Ala)
n.3088T>C
c.6473T>C (p.Val2158Ala)
c.6443T>C (p.Val2148Ala)
c.6380T>C (p.Val2127Ala)
c.5378T>C (p.Val1793Ala)
c.6579T>C (n.6579T>C)
c.6434T>C (p.Val2145Ala)
c.6410T>C (p.Val2137Ala)
c.6470T>C (p.Val2157Ala)
 dbSNP
17g.31337383T>GCA399013023NF1c.6425T>G (p.Val2142Gly)
c.1007T>G (p.Val336Gly)
n.1321T>G
c.599T>G (p.Val200Gly)
n.3088T>G
c.6473T>G (p.Val2158Gly)
c.6443T>G (p.Val2148Gly)
c.6380T>G (p.Val2127Gly)
c.5378T>G (p.Val1793Gly)
c.6579T>G (n.6579T>G)
c.6434T>G (p.Val2145Gly)
c.6410T>G (p.Val2137Gly)
c.6470T>G (p.Val2157Gly)
 dbSNP
17g.31337386delCA2580093365NF1c.6428del (p.Leu2143Ter)
c.1010del (p.Leu337Ter)
n.1324del
c.602del (p.Leu201Ter)
n.3091del
c.6476del (p.Leu2159Ter)
c.6446del (p.Leu2149Ter)
c.6383del (p.Leu2128Ter)
c.5381del (p.Leu1794Ter)
c.6582del (n.6582del)
c.6437del (p.Leu2146Ter)
c.6413del (p.Leu2138Ter)
c.6473del (p.Leu2158Ter)
 ClinVar
17g.31337384T>ACA499234015NF1c.6426T>A (p.Val2142=)
c.1008T>A (p.Val336=)
n.1322T>A
c.600T>A (p.Val200=)
n.3089T>A
c.6474T>A (p.Val2158=)
c.6444T>A (p.Val2148=)
c.6381T>A (p.Val2127=)
c.5379T>A (p.Val1793=)
c.6580T>A (n.6580T>A)
c.6435T>A (p.Val2145=)
c.6411T>A (p.Val2137=)
c.6471T>A (p.Val2157=)
 dbSNP
17g.31337384T>CCA499234016NF1c.6426T>C (p.Val2142=)
c.1008T>C (p.Val336=)
n.1322T>C
c.600T>C (p.Val200=)
n.3089T>C
c.6474T>C (p.Val2158=)
c.6444T>C (p.Val2148=)
c.6381T>C (p.Val2127=)
c.5379T>C (p.Val1793=)
c.6580T>C (n.6580T>C)
c.6435T>C (p.Val2145=)
c.6411T>C (p.Val2137=)
c.6471T>C (p.Val2157=)
17g.31337384T>GCA499234017NF1c.6426T>G (p.Val2142=)
c.1008T>G (p.Val336=)
n.1322T>G
c.600T>G (p.Val200=)
n.3089T>G
c.6474T>G (p.Val2158=)
c.6444T>G (p.Val2148=)
c.6381T>G (p.Val2127=)
c.5379T>G (p.Val1793=)
c.6580T>G (n.6580T>G)
c.6435T>G (p.Val2145=)
c.6411T>G (p.Val2137=)
c.6471T>G (p.Val2157=)
 ClinVar
17g.31337385T>ACA399013024NF1c.6427T>A (p.Leu2143Met)
c.1009T>A (p.Leu337Met)
n.1323T>A
c.601T>A (p.Leu201Met)
n.3090T>A
c.6475T>A (p.Leu2159Met)
c.6445T>A (p.Leu2149Met)
c.6382T>A (p.Leu2128Met)
c.5380T>A (p.Leu1794Met)
c.6581T>A (n.6581T>A)
c.6436T>A (p.Leu2146Met)
c.6412T>A (p.Leu2138Met)
c.6472T>A (p.Leu2158Met)
17g.31337385T>CCA499234018NF1c.6427T>C (p.Leu2143=)
c.1009T>C (p.Leu337=)
n.1323T>C
c.601T>C (p.Leu201=)
n.3090T>C
c.6475T>C (p.Leu2159=)
c.6445T>C (p.Leu2149=)
c.6382T>C (p.Leu2128=)
c.5380T>C (p.Leu1794=)
c.6581T>C (n.6581T>C)
c.6436T>C (p.Leu2146=)
c.6412T>C (p.Leu2138=)
c.6472T>C (p.Leu2158=)
17g.31337385T>GCA399013025NF1c.6427T>G (p.Leu2143Val)
c.1009T>G (p.Leu337Val)
n.1323T>G
c.601T>G (p.Leu201Val)
n.3090T>G
c.6475T>G (p.Leu2159Val)
c.6445T>G (p.Leu2149Val)
c.6382T>G (p.Leu2128Val)
c.5380T>G (p.Leu1794Val)
c.6581T>G (n.6581T>G)
c.6436T>G (p.Leu2146Val)
c.6412T>G (p.Leu2138Val)
c.6472T>G (p.Leu2158Val)
17g.31337385_31337388dupCA2695225122NF1c.6427_6430dup (p.Arg2144IlefsTer20)
c.1009_1012dup (p.Arg338IlefsTer20)
n.1323_1326dup
c.601_604dup (p.Arg202IlefsTer20)
n.3090_3093dup
c.6475_6478dup (p.Arg2160IlefsTer20)
c.6445_6448dup (p.Arg2150IlefsTer20)
c.6382_6385dup (p.Arg2129IlefsTer20)
c.5380_5383dup (p.Arg1795IlefsTer20)
c.6581_6584dup (n.6581_6584dup)
c.6436_6439dup (p.Arg2147IlefsTer20)
c.6412_6415dup (p.Arg2139IlefsTer20)
c.6472_6475dup (p.Arg2159IlefsTer20)
17g.31337385_31337397delinsTTGAGACTCAGTCCA2255601880NF1c.6427_6439delinsTTGAGACTCAGTC (p.Leu2143=)
c.1009_1021delinsTTGAGACTCAGTC (p.Leu337=)
n.1323_1335delinsTTGAGACTCAGTC
c.601_613delinsTTGAGACTCAGTC (p.Leu201=)
n.3090_3102delinsTTGAGACTCAGTC
c.6475_6487delinsTTGAGACTCAGTC (p.Leu2159=)
c.6445_6457delinsTTGAGACTCAGTC (p.Leu2149=)
c.6382_6394delinsTTGAGACTCAGTC (p.Leu2128=)
c.5380_5392delinsTTGAGACTCAGTC (p.Leu1794=)
c.6581_6593delinsTTGAGACTCAGTC (n.6581_6593delinsTTGAGACTCAGTC)
c.6436_6448delinsTTGAGACTCAGTC (p.Leu2146=)
c.6412_6424delinsTTGAGACTCAGTC (p.Leu2138=)
c.6472_6484delinsTTGAGACTCAGTC (p.Leu2158=)
17g.31337386T>ACA399013026NF1c.6428T>A (p.Leu2143Ter)
c.1010T>A (p.Leu337Ter)
n.1324T>A
c.602T>A (p.Leu201Ter)
n.3091T>A
c.6476T>A (p.Leu2159Ter)
c.6446T>A (p.Leu2149Ter)
c.6383T>A (p.Leu2128Ter)
c.5381T>A (p.Leu1794Ter)
c.6582T>A (n.6582T>A)
c.6437T>A (p.Leu2146Ter)
c.6413T>A (p.Leu2138Ter)
c.6473T>A (p.Leu2158Ter)
 ClinVar dbSNP
17g.31337386T>CCA399013027NF1c.6428T>C (p.Leu2143Ser)
c.1010T>C (p.Leu337Ser)
n.1324T>C
c.602T>C (p.Leu201Ser)
n.3091T>C
c.6476T>C (p.Leu2159Ser)
c.6446T>C (p.Leu2149Ser)
c.6383T>C (p.Leu2128Ser)
c.5381T>C (p.Leu1794Ser)
c.6582T>C (n.6582T>C)
c.6437T>C (p.Leu2146Ser)
c.6413T>C (p.Leu2138Ser)
c.6473T>C (p.Leu2158Ser)
 dbSNP
17g.31337386T>GCA399013028NF1c.6428T>G (p.Leu2143Trp)
c.1010T>G (p.Leu337Trp)
n.1324T>G
c.602T>G (p.Leu201Trp)
n.3091T>G
c.6476T>G (p.Leu2159Trp)
c.6446T>G (p.Leu2149Trp)
c.6383T>G (p.Leu2128Trp)
c.5381T>G (p.Leu1794Trp)
c.6582T>G (n.6582T>G)
c.6437T>G (p.Leu2146Trp)
c.6413T>G (p.Leu2138Trp)
c.6473T>G (p.Leu2158Trp)
 dbSNP
17g.31337389_31337400delCA658798808NF1c.6431_6442del (p.Arg2144_Leu2147del)
c.1013_1024del (p.Arg338_Leu341del)
n.1327_1338del
c.605_616del (p.Arg202_Leu205del)
n.3094_3105del
c.6479_6490del (p.Arg2160_Leu2163del)
c.6449_6460del (p.Arg2150_Leu2153del)
c.6386_6397del (p.Arg2129_Leu2132del)
c.5384_5395del (p.Arg1795_Leu1798del)
c.6585_6596del (n.6585_6596del)
c.6440_6451del (p.Arg2147_Leu2150del)
c.6416_6427del (p.Arg2139_Leu2142del)
c.6476_6487del (p.Arg2159_Leu2162del)
 ClinVar dbSNP
17g.31337387G>ACA499234019NF1c.6429G>A (p.Leu2143=)
c.1011G>A (p.Leu337=)
n.1325G>A
c.603G>A (p.Leu201=)
n.3092G>A
c.6477G>A (p.Leu2159=)
c.6447G>A (p.Leu2149=)
c.6384G>A (p.Leu2128=)
c.5382G>A (p.Leu1794=)
c.6583G>A (n.6583G>A)
c.6438G>A (p.Leu2146=)
c.6414G>A (p.Leu2138=)
c.6474G>A (p.Leu2158=)
 dbSNP
17g.31337387G>CCA399013029NF1c.6429G>C (p.Leu2143Phe)
c.1011G>C (p.Leu337Phe)
n.1325G>C
c.603G>C (p.Leu201Phe)
n.3092G>C
c.6477G>C (p.Leu2159Phe)
c.6447G>C (p.Leu2149Phe)
c.6384G>C (p.Leu2128Phe)
c.5382G>C (p.Leu1794Phe)
c.6583G>C (n.6583G>C)
c.6438G>C (p.Leu2146Phe)
c.6414G>C (p.Leu2138Phe)
c.6474G>C (p.Leu2158Phe)
 dbSNP
17g.31337387G>TCA399013030NF1c.6429G>T (p.Leu2143Phe)
c.1011G>T (p.Leu337Phe)
n.1325G>T
c.603G>T (p.Leu201Phe)
n.3092G>T
c.6477G>T (p.Leu2159Phe)
c.6447G>T (p.Leu2149Phe)
c.6384G>T (p.Leu2128Phe)
c.5382G>T (p.Leu1794Phe)
c.6583G>T (n.6583G>T)
c.6438G>T (p.Leu2146Phe)
c.6414G>T (p.Leu2138Phe)
c.6474G>T (p.Leu2158Phe)
 dbSNP
17g.31337388A>CCA499234020NF1c.6430A>C (p.Arg2144=)
c.1012A>C (p.Arg338=)
n.1326A>C
c.604A>C (p.Arg202=)
n.3093A>C
c.6478A>C (p.Arg2160=)
c.6448A>C (p.Arg2150=)
c.6385A>C (p.Arg2129=)
c.5383A>C (p.Arg1795=)
c.6584A>C (n.6584A>C)
c.6439A>C (p.Arg2147=)
c.6415A>C (p.Arg2139=)
c.6475A>C (p.Arg2159=)
 ClinVar
17g.31337388A>GCA399013032NF1c.6430A>G (p.Arg2144Gly)
c.1012A>G (p.Arg338Gly)
n.1326A>G
c.604A>G (p.Arg202Gly)
n.3093A>G
c.6478A>G (p.Arg2160Gly)
c.6448A>G (p.Arg2150Gly)
c.6385A>G (p.Arg2129Gly)
c.5383A>G (p.Arg1795Gly)
c.6584A>G (n.6584A>G)
c.6439A>G (p.Arg2147Gly)
c.6415A>G (p.Arg2139Gly)
c.6475A>G (p.Arg2159Gly)
 dbSNP
17g.31337388A>TCA399013031NF1c.6430A>T (p.Arg2144Ter)
c.1012A>T (p.Arg338Ter)
n.1326A>T
c.604A>T (p.Arg202Ter)
n.3093A>T
c.6478A>T (p.Arg2160Ter)
c.6448A>T (p.Arg2150Ter)
c.6385A>T (p.Arg2129Ter)
c.5383A>T (p.Arg1795Ter)
c.6584A>T (n.6584A>T)
c.6439A>T (p.Arg2147Ter)
c.6415A>T (p.Arg2139Ter)
c.6475A>T (p.Arg2159Ter)
 dbSNP
17g.31337389G>ACA399013033NF1c.6431G>A (p.Arg2144Lys)
c.1013G>A (p.Arg338Lys)
n.1327G>A
c.605G>A (p.Arg202Lys)
n.3094G>A
c.6479G>A (p.Arg2160Lys)
c.6449G>A (p.Arg2150Lys)
c.6386G>A (p.Arg2129Lys)
c.5384G>A (p.Arg1795Lys)
c.6585G>A (n.6585G>A)
c.6440G>A (p.Arg2147Lys)
c.6416G>A (p.Arg2139Lys)
c.6476G>A (p.Arg2159Lys)
 dbSNP
17g.31337389G>CCA399013034NF1c.6431G>C (p.Arg2144Thr)
c.1013G>C (p.Arg338Thr)
n.1327G>C
c.605G>C (p.Arg202Thr)
n.3094G>C
c.6479G>C (p.Arg2160Thr)
c.6449G>C (p.Arg2150Thr)
c.6386G>C (p.Arg2129Thr)
c.5384G>C (p.Arg1795Thr)
c.6585G>C (n.6585G>C)
c.6440G>C (p.Arg2147Thr)
c.6416G>C (p.Arg2139Thr)
c.6476G>C (p.Arg2159Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31337389G=CA2255601889NF1c.6431G= (p.Arg2144=)
c.1013G= (p.Arg338=)
n.1327G=
c.605G= (p.Arg202=)
n.3094G=
c.6479G= (p.Arg2160=)
c.6449G= (p.Arg2150=)
c.6386G= (p.Arg2129=)
c.5384G= (p.Arg1795=)
c.6585G= (n.6585G=)
c.6440G= (p.Arg2147=)
c.6416G= (p.Arg2139=)
c.6476G= (p.Arg2159=)
17g.31337389G>TCA399013035NF1c.6431G>T (p.Arg2144Ile)
c.1013G>T (p.Arg338Ile)
n.1327G>T
c.605G>T (p.Arg202Ile)
n.3094G>T
c.6479G>T (p.Arg2160Ile)
c.6449G>T (p.Arg2150Ile)
c.6386G>T (p.Arg2129Ile)
c.5384G>T (p.Arg1795Ile)
c.6585G>T (n.6585G>T)
c.6440G>T (p.Arg2147Ile)
c.6416G>T (p.Arg2139Ile)
c.6476G>T (p.Arg2159Ile)
 dbSNP
17g.31337390A>CCA399013036NF1c.6432A>C (p.Arg2144Ser)
c.1014A>C (p.Arg338Ser)
n.1328A>C
c.606A>C (p.Arg202Ser)
n.3095A>C
c.6480A>C (p.Arg2160Ser)
c.6450A>C (p.Arg2150Ser)
c.6387A>C (p.Arg2129Ser)
c.5385A>C (p.Arg1795Ser)
c.6586A>C (n.6586A>C)
c.6441A>C (p.Arg2147Ser)
c.6417A>C (p.Arg2139Ser)
c.6477A>C (p.Arg2159Ser)
 COSMIC
17g.31337390A>GCA499234021NF1c.6432A>G (p.Arg2144=)
c.1014A>G (p.Arg338=)
n.1328A>G
c.606A>G (p.Arg202=)
n.3095A>G
c.6480A>G (p.Arg2160=)
c.6450A>G (p.Arg2150=)
c.6387A>G (p.Arg2129=)
c.5385A>G (p.Arg1795=)
c.6586A>G (n.6586A>G)
c.6441A>G (p.Arg2147=)
c.6417A>G (p.Arg2139=)
c.6477A>G (p.Arg2159=)
17g.31337390A>TCA399013037NF1c.6432A>T (p.Arg2144Ser)
c.1014A>T (p.Arg338Ser)
n.1328A>T
c.606A>T (p.Arg202Ser)
n.3095A>T
c.6480A>T (p.Arg2160Ser)
c.6450A>T (p.Arg2150Ser)
c.6387A>T (p.Arg2129Ser)
c.5385A>T (p.Arg1795Ser)
c.6586A>T (n.6586A>T)
c.6441A>T (p.Arg2147Ser)
c.6417A>T (p.Arg2139Ser)
c.6477A>T (p.Arg2159Ser)
 dbSNP
17g.31337391C>ACA399013038NF1c.6433C>A (p.Leu2145Ile)
c.1015C>A (p.Leu339Ile)
n.1329C>A
c.607C>A (p.Leu203Ile)
n.3096C>A
c.6481C>A (p.Leu2161Ile)
c.6451C>A (p.Leu2151Ile)
c.6388C>A (p.Leu2130Ile)
c.5386C>A (p.Leu1796Ile)
c.6587C>A (n.6587C>A)
c.6442C>A (p.Leu2148Ile)
c.6418C>A (p.Leu2140Ile)
c.6478C>A (p.Leu2160Ile)
 dbSNP
17g.31337391C>GCA399013039NF1c.6433C>G (p.Leu2145Val)
c.1015C>G (p.Leu339Val)
n.1329C>G
c.607C>G (p.Leu203Val)
n.3096C>G
c.6481C>G (p.Leu2161Val)
c.6451C>G (p.Leu2151Val)
c.6388C>G (p.Leu2130Val)
c.5386C>G (p.Leu1796Val)
c.6587C>G (n.6587C>G)
c.6442C>G (p.Leu2148Val)
c.6418C>G (p.Leu2140Val)
c.6478C>G (p.Leu2160Val)
 dbSNP
17g.31337391C>TCA399013040NF1c.6433C>T (p.Leu2145Phe)
c.1015C>T (p.Leu339Phe)
n.1329C>T
c.607C>T (p.Leu203Phe)
n.3096C>T
c.6481C>T (p.Leu2161Phe)
c.6451C>T (p.Leu2151Phe)
c.6388C>T (p.Leu2130Phe)
c.5386C>T (p.Leu1796Phe)
c.6587C>T (n.6587C>T)
c.6442C>T (p.Leu2148Phe)
c.6418C>T (p.Leu2140Phe)
c.6478C>T (p.Leu2160Phe)
17g.31337392_31337393delCA658761085NF1c.6434_6435del (p.Leu2145GlnfsTer17)
c.1016_1017del (p.Leu339GlnfsTer17)
n.1330_1331del
c.608_609del (p.Leu203GlnfsTer17)
n.3097_3098del
c.6482_6483del (p.Leu2161GlnfsTer17)
c.6452_6453del (p.Leu2151GlnfsTer17)
c.6389_6390del (p.Leu2130GlnfsTer17)
c.5387_5388del (p.Leu1796GlnfsTer17)
c.6588_6589del (n.6588_6589del)
c.6443_6444del (p.Leu2148GlnfsTer17)
c.6419_6420del (p.Leu2140GlnfsTer17)
c.6479_6480del (p.Leu2160GlnfsTer17)
 gnomAD v4
17g.31337391_31337396delinsCTCAGTCA2255601892NF1c.6433_6438delinsCTCAGT (p.Leu2145=)
c.1015_1020delinsCTCAGT (p.Leu339=)
n.1329_1334delinsCTCAGT
c.607_612delinsCTCAGT (p.Leu203=)
n.3096_3101delinsCTCAGT
c.6481_6486delinsCTCAGT (p.Leu2161=)
c.6451_6456delinsCTCAGT (p.Leu2151=)
c.6388_6393delinsCTCAGT (p.Leu2130=)
c.5386_5391delinsCTCAGT (p.Leu1796=)
c.6587_6592delinsCTCAGT (n.6587_6592delinsCTCAGT)
c.6442_6447delinsCTCAGT (p.Leu2148=)
c.6418_6423delinsCTCAGT (p.Leu2140=)
c.6478_6483delinsCTCAGT (p.Leu2160=)
17g.31337392T>ACA399013041NF1c.6434T>A (p.Leu2145His)
c.1016T>A (p.Leu339His)
n.1330T>A
c.608T>A (p.Leu203His)
n.3097T>A
c.6482T>A (p.Leu2161His)
c.6452T>A (p.Leu2151His)
c.6389T>A (p.Leu2130His)
c.5387T>A (p.Leu1796His)
c.6588T>A (n.6588T>A)
c.6443T>A (p.Leu2148His)
c.6419T>A (p.Leu2140His)
c.6479T>A (p.Leu2160His)
 dbSNP
17g.31337392T>CCA399013042NF1c.6434T>C (p.Leu2145Pro)
c.1016T>C (p.Leu339Pro)
n.1330T>C
c.608T>C (p.Leu203Pro)
n.3097T>C
c.6482T>C (p.Leu2161Pro)
c.6452T>C (p.Leu2151Pro)
c.6389T>C (p.Leu2130Pro)
c.5387T>C (p.Leu1796Pro)
c.6588T>C (n.6588T>C)
c.6443T>C (p.Leu2148Pro)
c.6419T>C (p.Leu2140Pro)
c.6479T>C (p.Leu2160Pro)
 dbSNP
17g.31337392T>GCA399013043NF1c.6434T>G (p.Leu2145Arg)
c.1016T>G (p.Leu339Arg)
n.1330T>G
c.608T>G (p.Leu203Arg)
n.3097T>G
c.6482T>G (p.Leu2161Arg)
c.6452T>G (p.Leu2151Arg)
c.6389T>G (p.Leu2130Arg)
c.5387T>G (p.Leu1796Arg)
c.6588T>G (n.6588T>G)
c.6443T>G (p.Leu2148Arg)
c.6419T>G (p.Leu2140Arg)
c.6479T>G (p.Leu2160Arg)
17g.31337392_31337396delinsACA645373103NF1c.6434_6438delinsA (p.Leu2145HisfsTer2)
c.1016_1020delinsA (p.Leu339HisfsTer2)
n.1330_1334delinsA
c.608_612delinsA (p.Leu203HisfsTer2)
n.3097_3101delinsA
c.6482_6486delinsA (p.Leu2161HisfsTer2)
c.6452_6456delinsA (p.Leu2151HisfsTer2)
c.6389_6393delinsA (p.Leu2130HisfsTer2)
c.5387_5391delinsA (p.Leu1796HisfsTer2)
c.6588_6592delinsA (n.6588_6592delinsA)
c.6443_6447delinsA (p.Leu2148HisfsTer2)
c.6419_6423delinsA (p.Leu2140HisfsTer2)
c.6479_6483delinsA (p.Leu2160HisfsTer2)
 ClinVar dbSNP
17g.31337393C>ACA499234022NF1c.6435C>A (p.Leu2145=)
c.1017C>A (p.Leu339=)
n.1331C>A
c.609C>A (p.Leu203=)
n.3098C>A
c.6483C>A (p.Leu2161=)
c.6453C>A (p.Leu2151=)
c.6390C>A (p.Leu2130=)
c.5388C>A (p.Leu1796=)
c.6589C>A (n.6589C>A)
c.6444C>A (p.Leu2148=)
c.6420C>A (p.Leu2140=)
c.6480C>A (p.Leu2160=)
 ClinVar dbSNP
17g.31337393C=CA2255601900NF1c.6435C= (p.Leu2145=)
c.1017C= (p.Leu339=)
n.1331C=
c.609C= (p.Leu203=)
n.3098C=
c.6483C= (p.Leu2161=)
c.6453C= (p.Leu2151=)
c.6390C= (p.Leu2130=)
c.5388C= (p.Leu1796=)
c.6589C= (n.6589C=)
c.6444C= (p.Leu2148=)
c.6420C= (p.Leu2140=)
c.6480C= (p.Leu2160=)
17g.31337393C>GCA499234023NF1c.6435C>G (p.Leu2145=)
c.1017C>G (p.Leu339=)
n.1331C>G
c.609C>G (p.Leu203=)
n.3098C>G
c.6483C>G (p.Leu2161=)
c.6453C>G (p.Leu2151=)
c.6390C>G (p.Leu2130=)
c.5388C>G (p.Leu1796=)
c.6589C>G (n.6589C>G)
c.6444C>G (p.Leu2148=)
c.6420C>G (p.Leu2140=)
c.6480C>G (p.Leu2160=)
 dbSNP
17g.31337393C>TCA499234024NF1c.6435C>T (p.Leu2145=)
c.1017C>T (p.Leu339=)
n.1331C>T
c.609C>T (p.Leu203=)
n.3098C>T
c.6483C>T (p.Leu2161=)
c.6453C>T (p.Leu2151=)
c.6390C>T (p.Leu2130=)
c.5388C>T (p.Leu1796=)
c.6589C>T (n.6589C>T)
c.6444C>T (p.Leu2148=)
c.6420C>T (p.Leu2140=)
c.6480C>T (p.Leu2160=)
 ClinVar dbSNP
17g.31337394A>CCA399013045NF1c.6436A>C (p.Ser2146Arg)
c.1018A>C (p.Ser340Arg)
n.1332A>C
c.610A>C (p.Ser204Arg)
n.3099A>C
c.6484A>C (p.Ser2162Arg)
c.6454A>C (p.Ser2152Arg)
c.6391A>C (p.Ser2131Arg)
c.5389A>C (p.Ser1797Arg)
c.6590A>C (n.6590A>C)
c.6445A>C (p.Ser2149Arg)
c.6421A>C (p.Ser2141Arg)
c.6481A>C (p.Ser2161Arg)
17g.31337394A>GCA399013046NF1c.6436A>G (p.Ser2146Gly)
c.1018A>G (p.Ser340Gly)
n.1332A>G
c.610A>G (p.Ser204Gly)
n.3099A>G
c.6484A>G (p.Ser2162Gly)
c.6454A>G (p.Ser2152Gly)
c.6391A>G (p.Ser2131Gly)
c.5389A>G (p.Ser1797Gly)
c.6590A>G (n.6590A>G)
c.6445A>G (p.Ser2149Gly)
c.6421A>G (p.Ser2141Gly)
c.6481A>G (p.Ser2161Gly)
 dbSNP
17g.31337394A>TCA399013044NF1c.6436A>T (p.Ser2146Cys)
c.1018A>T (p.Ser340Cys)
n.1332A>T
c.610A>T (p.Ser204Cys)
n.3099A>T
c.6484A>T (p.Ser2162Cys)
c.6454A>T (p.Ser2152Cys)
c.6391A>T (p.Ser2131Cys)
c.5389A>T (p.Ser1797Cys)
c.6590A>T (n.6590A>T)
c.6445A>T (p.Ser2149Cys)
c.6421A>T (p.Ser2141Cys)
c.6481A>T (p.Ser2161Cys)
 dbSNP
17g.31337394dupCA2695225123NF1c.6436dup (p.Ser2146LysfsTer17)
c.1018dup (p.Ser340LysfsTer17)
n.1332dup
c.610dup (p.Ser204LysfsTer17)
n.3099dup
c.6484dup (p.Ser2162LysfsTer17)
c.6454dup (p.Ser2152LysfsTer17)
c.6391dup (p.Ser2131LysfsTer17)
c.5389dup (p.Ser1797LysfsTer17)
c.6590dup (n.6590dup)
c.6445dup (p.Ser2149LysfsTer17)
c.6421dup (p.Ser2141LysfsTer17)
c.6481dup (p.Ser2161LysfsTer17)
17g.31337395G>ACA399013047NF1c.6437G>A (p.Ser2146Asn)
c.1019G>A (p.Ser340Asn)
n.1333G>A
c.611G>A (p.Ser204Asn)
n.3100G>A
c.6485G>A (p.Ser2162Asn)
c.6455G>A (p.Ser2152Asn)
c.6392G>A (p.Ser2131Asn)
c.5390G>A (p.Ser1797Asn)
c.6591G>A (n.6591G>A)
c.6446G>A (p.Ser2149Asn)
c.6422G>A (p.Ser2141Asn)
c.6482G>A (p.Ser2161Asn)
 dbSNP
17g.31337395G>CCA399013048NF1c.6437G>C (p.Ser2146Thr)
c.1019G>C (p.Ser340Thr)
n.1333G>C
c.611G>C (p.Ser204Thr)
n.3100G>C
c.6485G>C (p.Ser2162Thr)
c.6455G>C (p.Ser2152Thr)
c.6392G>C (p.Ser2131Thr)
c.5390G>C (p.Ser1797Thr)
c.6591G>C (n.6591G>C)
c.6446G>C (p.Ser2149Thr)
c.6422G>C (p.Ser2141Thr)
c.6482G>C (p.Ser2161Thr)
 dbSNP
17g.31337395G>TCA399013049NF1c.6437G>T (p.Ser2146Ile)
c.1019G>T (p.Ser340Ile)
n.1333G>T
c.611G>T (p.Ser204Ile)
n.3100G>T
c.6485G>T (p.Ser2162Ile)
c.6455G>T (p.Ser2152Ile)
c.6392G>T (p.Ser2131Ile)
c.5390G>T (p.Ser1797Ile)
c.6591G>T (n.6591G>T)
c.6446G>T (p.Ser2149Ile)
c.6422G>T (p.Ser2141Ile)
c.6482G>T (p.Ser2161Ile)
17g.31337395_31337401delCA2739267422NF1c.6437_6443del (p.Ser2146LysfsTer?)
c.1019_1025del (p.Ser340LysfsTer?)
n.1333_1339del
c.611_617del (p.Ser204LysfsTer?)
n.3100_3106del
c.6485_6491del (p.Ser2162LysfsTer?)
c.6455_6461del (p.Ser2152LysfsTer?)
c.6392_6398del (p.Ser2131LysfsTer?)
c.5390_5396del (p.Ser1797LysfsTer?)
c.6591_6597del (n.6591_6597del)
c.6446_6452del (p.Ser2149LysfsTer?)
c.6422_6428del (p.Ser2141LysfsTer?)
c.6482_6488del (p.Ser2161LysfsTer?)
 ClinVar
17g.31337396T>ACA399013050NF1c.6438T>A (p.Ser2146Arg)
c.1020T>A (p.Ser340Arg)
n.1334T>A
c.612T>A (p.Ser204Arg)
n.3101T>A
c.6486T>A (p.Ser2162Arg)
c.6456T>A (p.Ser2152Arg)
c.6393T>A (p.Ser2131Arg)
c.5391T>A (p.Ser1797Arg)
c.6592T>A (n.6592T>A)
c.6447T>A (p.Ser2149Arg)
c.6423T>A (p.Ser2141Arg)
c.6483T>A (p.Ser2161Arg)
 dbSNP
17g.31337396T>CCA8487358NF1c.6438T>C (p.Ser2146=)
c.1020T>C (p.Ser340=)
n.1334T>C
c.612T>C (p.Ser204=)
n.3101T>C
c.6486T>C (p.Ser2162=)
c.6456T>C (p.Ser2152=)
c.6393T>C (p.Ser2131=)
c.5391T>C (p.Ser1797=)
c.6592T>C (n.6592T>C)
c.6447T>C (p.Ser2149=)
c.6423T>C (p.Ser2141=)
c.6483T>C (p.Ser2161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337396T>GCA399013051NF1c.6438T>G (p.Ser2146Arg)
c.1020T>G (p.Ser340Arg)
n.1334T>G
c.612T>G (p.Ser204Arg)
n.3101T>G
c.6486T>G (p.Ser2162Arg)
c.6456T>G (p.Ser2152Arg)
c.6393T>G (p.Ser2131Arg)
c.5391T>G (p.Ser1797Arg)
c.6592T>G (n.6592T>G)
c.6447T>G (p.Ser2149Arg)
c.6423T>G (p.Ser2141Arg)
c.6483T>G (p.Ser2161Arg)
17g.31337396T=CA2255601905NF1c.6438T= (p.Ser2146=)
c.1020T= (p.Ser340=)
n.1334T=
c.612T= (p.Ser204=)
n.3101T=
c.6486T= (p.Ser2162=)
c.6456T= (p.Ser2152=)
c.6393T= (p.Ser2131=)
c.5391T= (p.Ser1797=)
c.6592T= (n.6592T=)
c.6447T= (p.Ser2149=)
c.6423T= (p.Ser2141=)
c.6483T= (p.Ser2161=)
17g.31337397C>ACA399013052NF1c.6439C>A (p.Leu2147Met)
c.1021C>A (p.Leu341Met)
n.1335C>A
c.613C>A (p.Leu205Met)
n.3102C>A
c.6487C>A (p.Leu2163Met)
c.6457C>A (p.Leu2153Met)
c.6394C>A (p.Leu2132Met)
c.5392C>A (p.Leu1798Met)
c.6593C>A (n.6593C>A)
c.6448C>A (p.Leu2150Met)
c.6424C>A (p.Leu2142Met)
c.6484C>A (p.Leu2162Met)
 dbSNP
17g.31337397C>GCA399013053NF1c.6439C>G (p.Leu2147Val)
c.1021C>G (p.Leu341Val)
n.1335C>G
c.613C>G (p.Leu205Val)
n.3102C>G
c.6487C>G (p.Leu2163Val)
c.6457C>G (p.Leu2153Val)
c.6394C>G (p.Leu2132Val)
c.5392C>G (p.Leu1798Val)
c.6593C>G (n.6593C>G)
c.6448C>G (p.Leu2150Val)
c.6424C>G (p.Leu2142Val)
c.6484C>G (p.Leu2162Val)
 dbSNP gnomAD v4
17g.31337397C>TCA499234025NF1c.6439C>T (p.Leu2147=)
c.1021C>T (p.Leu341=)
n.1335C>T
c.613C>T (p.Leu205=)
n.3102C>T
c.6487C>T (p.Leu2163=)
c.6457C>T (p.Leu2153=)
c.6394C>T (p.Leu2132=)
c.5392C>T (p.Leu1798=)
c.6593C>T (n.6593C>T)
c.6448C>T (p.Leu2150=)
c.6424C>T (p.Leu2142=)
c.6484C>T (p.Leu2162=)
 dbSNP
17g.31337398_31337401delCA658761086NF1c.6440_6443del (p.Leu2147GlnfsTer?)
c.1022_1025del (p.Leu341GlnfsTer?)
n.1336_1339del
c.614_617del (p.Leu205GlnfsTer?)
n.3103_3106del
c.6488_6491del (p.Leu2163GlnfsTer?)
c.6458_6461del (p.Leu2153GlnfsTer?)
c.6395_6398del (p.Leu2132GlnfsTer?)
c.5393_5396del (p.Leu1798GlnfsTer?)
c.6594_6597del (n.6594_6597del)
c.6449_6452del (p.Leu2150GlnfsTer?)
c.6425_6428del (p.Leu2142GlnfsTer?)
c.6485_6488del (p.Leu2162GlnfsTer?)
17g.31337398T>ACA399013054NF1c.6440T>A (p.Leu2147Gln)
c.1022T>A (p.Leu341Gln)
n.1336T>A
c.614T>A (p.Leu205Gln)
n.3103T>A
c.6488T>A (p.Leu2163Gln)
c.6458T>A (p.Leu2153Gln)
c.6395T>A (p.Leu2132Gln)
c.5393T>A (p.Leu1798Gln)
c.6594T>A (n.6594T>A)
c.6449T>A (p.Leu2150Gln)
c.6425T>A (p.Leu2142Gln)
c.6485T>A (p.Leu2162Gln)
17g.31337398T>CCA399013055NF1c.6440T>C (p.Leu2147Pro)
c.1022T>C (p.Leu341Pro)
n.1336T>C
c.614T>C (p.Leu205Pro)
n.3103T>C
c.6488T>C (p.Leu2163Pro)
c.6458T>C (p.Leu2153Pro)
c.6395T>C (p.Leu2132Pro)
c.5393T>C (p.Leu1798Pro)
c.6594T>C (n.6594T>C)
c.6449T>C (p.Leu2150Pro)
c.6425T>C (p.Leu2142Pro)
c.6485T>C (p.Leu2162Pro)
 ClinVar dbSNP
17g.31337398T>GCA399013056NF1c.6440T>G (p.Leu2147Arg)
c.1022T>G (p.Leu341Arg)
n.1336T>G
c.614T>G (p.Leu205Arg)
n.3103T>G
c.6488T>G (p.Leu2163Arg)
c.6458T>G (p.Leu2153Arg)
c.6395T>G (p.Leu2132Arg)
c.5393T>G (p.Leu1798Arg)
c.6594T>G (n.6594T>G)
c.6449T>G (p.Leu2150Arg)
c.6425T>G (p.Leu2142Arg)
c.6485T>G (p.Leu2162Arg)
17g.31337398T=CA2255601909NF1c.6440T= (p.Leu2147=)
c.1022T= (p.Leu341=)
n.1336T=
c.614T= (p.Leu205=)
n.3103T=
c.6488T= (p.Leu2163=)
c.6458T= (p.Leu2153=)
c.6395T= (p.Leu2132=)
c.5393T= (p.Leu1798=)
c.6594T= (n.6594T=)
c.6449T= (p.Leu2150=)
c.6425T= (p.Leu2142=)
c.6485T= (p.Leu2162=)
17g.31337398_31337407delCA2695225124NF1c.6440_6449del (p.Leu2147ProfsTer?)
c.1022_1031del (p.Leu341ProfsTer?)
n.1336_1345del
c.614_623del (p.Leu205ProfsTer?)
n.3103_3112del
c.6488_6497del (p.Leu2163ProfsTer?)
c.6458_6467del (p.Leu2153ProfsTer?)
c.6395_6404del (p.Leu2132ProfsTer?)
c.5393_5402del (p.Leu1798ProfsTer?)
c.6594_6603del (n.6594_6603del)
c.6449_6458del (p.Leu2150ProfsTer?)
c.6425_6434del (p.Leu2142ProfsTer?)
c.6485_6494del (p.Leu2162ProfsTer?)
17g.31337399G>ACA499234026NF1c.6441G>A (p.Leu2147=)
c.1023G>A (p.Leu341=)
n.1337G>A
c.615G>A (p.Leu205=)
n.3104G>A
c.6489G>A (p.Leu2163=)
c.6459G>A (p.Leu2153=)
c.6396G>A (p.Leu2132=)
c.5394G>A (p.Leu1798=)
c.6595G>A (n.6595G>A)
c.6450G>A (p.Leu2150=)
c.6426G>A (p.Leu2142=)
c.6486G>A (p.Leu2162=)
 dbSNP
17g.31337399G>CCA499234027NF1c.6441G>C (p.Leu2147=)
c.1023G>C (p.Leu341=)
n.1337G>C
c.615G>C (p.Leu205=)
n.3104G>C
c.6489G>C (p.Leu2163=)
c.6459G>C (p.Leu2153=)
c.6396G>C (p.Leu2132=)
c.5394G>C (p.Leu1798=)
c.6595G>C (n.6595G>C)
c.6450G>C (p.Leu2150=)
c.6426G>C (p.Leu2142=)
c.6486G>C (p.Leu2162=)
 dbSNP
17g.31337399G>TCA499234028NF1c.6441G>T (p.Leu2147=)
c.1023G>T (p.Leu341=)
n.1337G>T
c.615G>T (p.Leu205=)
n.3104G>T
c.6489G>T (p.Leu2163=)
c.6459G>T (p.Leu2153=)
c.6396G>T (p.Leu2132=)
c.5394G>T (p.Leu1798=)
c.6595G>T (n.6595G>T)
c.6450G>T (p.Leu2150=)
c.6426G>T (p.Leu2142=)
c.6486G>T (p.Leu2162=)
 dbSNP
17g.31337400A>CCA399013058NF1c.6442A>C (p.Thr2148Pro)
c.1024A>C (p.Thr342Pro)
n.1338A>C
c.616A>C (p.Thr206Pro)
n.3105A>C
c.6490A>C (p.Thr2164Pro)
c.6460A>C (p.Thr2154Pro)
c.6397A>C (p.Thr2133Pro)
c.5395A>C (p.Thr1799Pro)
c.6596A>C (n.6596A>C)
c.6451A>C (p.Thr2151Pro)
c.6427A>C (p.Thr2143Pro)
c.6487A>C (p.Thr2163Pro)
17g.31337400A>GCA399013059NF1c.6442A>G (p.Thr2148Ala)
c.1024A>G (p.Thr342Ala)
n.1338A>G
c.616A>G (p.Thr206Ala)
n.3105A>G
c.6490A>G (p.Thr2164Ala)
c.6460A>G (p.Thr2154Ala)
c.6397A>G (p.Thr2133Ala)
c.5395A>G (p.Thr1799Ala)
c.6596A>G (n.6596A>G)
c.6451A>G (p.Thr2151Ala)
c.6427A>G (p.Thr2143Ala)
c.6487A>G (p.Thr2163Ala)
 dbSNP
17g.31337400A>TCA399013057NF1c.6442A>T (p.Thr2148Ser)
c.1024A>T (p.Thr342Ser)
n.1338A>T
c.616A>T (p.Thr206Ser)
n.3105A>T
c.6490A>T (p.Thr2164Ser)
c.6460A>T (p.Thr2154Ser)
c.6397A>T (p.Thr2133Ser)
c.5395A>T (p.Thr1799Ser)
c.6596A>T (n.6596A>T)
c.6451A>T (p.Thr2151Ser)
c.6427A>T (p.Thr2143Ser)
c.6487A>T (p.Thr2163Ser)
 dbSNP
17g.31337401C>ACA399013060NF1c.6443C>A (p.Thr2148Lys)
c.1025C>A (p.Thr342Lys)
n.1339C>A
c.617C>A (p.Thr206Lys)
n.3106C>A
c.6491C>A (p.Thr2164Lys)
c.6461C>A (p.Thr2154Lys)
c.6398C>A (p.Thr2133Lys)
c.5396C>A (p.Thr1799Lys)
c.6597C>A (n.6597C>A)
c.6452C>A (p.Thr2151Lys)
c.6428C>A (p.Thr2143Lys)
c.6488C>A (p.Thr2163Lys)
17g.31337401C=CA2255601915NF1c.6443C= (p.Thr2148=)
c.1025C= (p.Thr342=)
n.1339C=
c.617C= (p.Thr206=)
n.3106C=
c.6491C= (p.Thr2164=)
c.6461C= (p.Thr2154=)
c.6398C= (p.Thr2133=)
c.5396C= (p.Thr1799=)
c.6597C= (n.6597C=)
c.6452C= (p.Thr2151=)
c.6428C= (p.Thr2143=)
c.6488C= (p.Thr2163=)
17g.31337401C>GCA399013061NF1c.6443C>G (p.Thr2148Arg)
c.1025C>G (p.Thr342Arg)
n.1339C>G
c.617C>G (p.Thr206Arg)
n.3106C>G
c.6491C>G (p.Thr2164Arg)
c.6461C>G (p.Thr2154Arg)
c.6398C>G (p.Thr2133Arg)
c.5396C>G (p.Thr1799Arg)
c.6597C>G (n.6597C>G)
c.6452C>G (p.Thr2151Arg)
c.6428C>G (p.Thr2143Arg)
c.6488C>G (p.Thr2163Arg)
 dbSNP
17g.31337401C>TCA10580379NF1c.6443C>T (p.Thr2148Ile)
c.1025C>T (p.Thr342Ile)
n.1339C>T
c.617C>T (p.Thr206Ile)
n.3106C>T
c.6491C>T (p.Thr2164Ile)
c.6461C>T (p.Thr2154Ile)
c.6398C>T (p.Thr2133Ile)
c.5396C>T (p.Thr1799Ile)
c.6597C>T (n.6597C>T)
c.6452C>T (p.Thr2151Ile)
c.6428C>T (p.Thr2143Ile)
c.6488C>T (p.Thr2163Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31337402A>CCA499234031NF1c.6444A>C (p.Thr2148=)
c.1026A>C (p.Thr342=)
n.1340A>C
c.618A>C (p.Thr206=)
n.3107A>C
c.6492A>C (p.Thr2164=)
c.6462A>C (p.Thr2154=)
c.6399A>C (p.Thr2133=)
c.5397A>C (p.Thr1799=)
c.6598A>C (n.6598A>C)
c.6453A>C (p.Thr2151=)
c.6429A>C (p.Thr2143=)
c.6489A>C (p.Thr2163=)
17g.31337402A>GCA499234030NF1c.6444A>G (p.Thr2148=)
c.1026A>G (p.Thr342=)
n.1340A>G
c.618A>G (p.Thr206=)
n.3107A>G
c.6492A>G (p.Thr2164=)
c.6462A>G (p.Thr2154=)
c.6399A>G (p.Thr2133=)
c.5397A>G (p.Thr1799=)
c.6598A>G (n.6598A>G)
c.6453A>G (p.Thr2151=)
c.6429A>G (p.Thr2143=)
c.6489A>G (p.Thr2163=)
 gnomAD v4
17g.31337402A>TCA499234029NF1c.6444A>T (p.Thr2148=)
c.1026A>T (p.Thr342=)
n.1340A>T
c.618A>T (p.Thr206=)
n.3107A>T
c.6492A>T (p.Thr2164=)
c.6462A>T (p.Thr2154=)
c.6399A>T (p.Thr2133=)
c.5397A>T (p.Thr1799=)
c.6598A>T (n.6598A>T)
c.6453A>T (p.Thr2151=)
c.6429A>T (p.Thr2143=)
c.6489A>T (p.Thr2163=)
 dbSNP
17g.31337402_31337403insAACA2695225125NF1c.6444_6445insAA (p.Glu2149LysfsTer?)
c.1026_1027insAA (p.Glu343LysfsTer?)
n.1340_1341insAA
c.618_619insAA (p.Glu207LysfsTer?)
n.3107_3108insAA
c.6492_6493insAA (p.Glu2165LysfsTer?)
c.6462_6463insAA (p.Glu2155LysfsTer?)
c.6399_6400insAA (p.Glu2134LysfsTer?)
c.5397_5398insAA (p.Glu1800LysfsTer?)
c.6598_6599insAA (n.6598_6599insAA)
c.6453_6454insAA (p.Glu2152LysfsTer?)
c.6429_6430insAA (p.Glu2144LysfsTer?)
c.6489_6490insAA (p.Glu2164LysfsTer?)
17g.31337402dupCA645373104NF1c.6444dup (p.Glu2149ArgfsTer14)
c.1026dup (p.Glu343ArgfsTer14)
n.1340dup
c.618dup (p.Glu207ArgfsTer14)
n.3107dup
c.6492dup (p.Glu2165ArgfsTer14)
c.6462dup (p.Glu2155ArgfsTer14)
c.6399dup (p.Glu2134ArgfsTer14)
c.5397dup (p.Glu1800ArgfsTer14)
c.6598dup (n.6598dup)
c.6453dup (p.Glu2152ArgfsTer14)
c.6429dup (p.Glu2144ArgfsTer14)
c.6489dup (p.Glu2164ArgfsTer14)
 ClinVar dbSNP
17g.31337404_31337405delCA2580614097NF1c.6446_6447del (p.Glu2149ValfsTer13)
c.1028_1029del (p.Glu343ValfsTer13)
n.1342_1343del
c.620_621del (p.Glu207ValfsTer13)
n.3109_3110del
c.6494_6495del (p.Glu2165ValfsTer13)
c.6464_6465del (p.Glu2155ValfsTer13)
c.6401_6402del (p.Glu2134ValfsTer13)
c.5399_5400del (p.Glu1800ValfsTer13)
c.6600_6601del (n.6600_6601del)
c.6455_6456del (p.Glu2152ValfsTer13)
c.6431_6432del (p.Glu2144ValfsTer13)
c.6491_6492del (p.Glu2164ValfsTer13)
 ClinVar
17g.31337402_31337403insTGGGCCA645596518NF1c.6444_6445insTGGGC (p.Glu2149TrpfsTer?)
c.1026_1027insTGGGC (p.Glu343TrpfsTer?)
n.1340_1341insTGGGC
c.618_619insTGGGC (p.Glu207TrpfsTer?)
n.3107_3108insTGGGC
c.6492_6493insTGGGC (p.Glu2165TrpfsTer?)
c.6462_6463insTGGGC (p.Glu2155TrpfsTer?)
c.6399_6400insTGGGC (p.Glu2134TrpfsTer?)
c.5397_5398insTGGGC (p.Glu1800TrpfsTer?)
c.6598_6599insTGGGC (n.6598_6599insTGGGC)
c.6453_6454insTGGGC (p.Glu2152TrpfsTer?)
c.6429_6430insTGGGC (p.Glu2144TrpfsTer?)
c.6489_6490insTGGGC (p.Glu2164TrpfsTer?)
 COSMIC COSMIC
17g.31337403G>ACA399013062NF1c.6445G>A (p.Glu2149Lys)
c.1027G>A (p.Glu343Lys)
n.1341G>A
c.619G>A (p.Glu207Lys)
n.3108G>A
c.6493G>A (p.Glu2165Lys)
c.6463G>A (p.Glu2155Lys)
c.6400G>A (p.Glu2134Lys)
c.5398G>A (p.Glu1800Lys)
c.6599G>A (n.6599G>A)
c.6454G>A (p.Glu2152Lys)
c.6430G>A (p.Glu2144Lys)
c.6490G>A (p.Glu2164Lys)
 dbSNP
17g.31337403G>CCA399013063NF1c.6445G>C (p.Glu2149Gln)
c.1027G>C (p.Glu343Gln)
n.1341G>C
c.619G>C (p.Glu207Gln)
n.3108G>C
c.6493G>C (p.Glu2165Gln)
c.6463G>C (p.Glu2155Gln)
c.6400G>C (p.Glu2134Gln)
c.5398G>C (p.Glu1800Gln)
c.6599G>C (n.6599G>C)
c.6454G>C (p.Glu2152Gln)
c.6430G>C (p.Glu2144Gln)
c.6490G>C (p.Glu2164Gln)
 dbSNP
17g.31337403G>TCA399013064NF1c.6445G>T (p.Glu2149Ter)
c.1027G>T (p.Glu343Ter)
n.1341G>T
c.619G>T (p.Glu207Ter)
n.3108G>T
c.6493G>T (p.Glu2165Ter)
c.6463G>T (p.Glu2155Ter)
c.6400G>T (p.Glu2134Ter)
c.5398G>T (p.Glu1800Ter)
c.6599G>T (n.6599G>T)
c.6454G>T (p.Glu2152Ter)
c.6430G>T (p.Glu2144Ter)
c.6490G>T (p.Glu2164Ter)
 ClinVar dbSNP
17g.31337404A>CCA399013065NF1c.6446A>C (p.Glu2149Ala)
c.1028A>C (p.Glu343Ala)
n.1342A>C
c.620A>C (p.Glu207Ala)
n.3109A>C
c.6494A>C (p.Glu2165Ala)
c.6464A>C (p.Glu2155Ala)
c.6401A>C (p.Glu2134Ala)
c.5399A>C (p.Glu1800Ala)
c.6600A>C (n.6600A>C)
c.6455A>C (p.Glu2152Ala)
c.6431A>C (p.Glu2144Ala)
c.6491A>C (p.Glu2164Ala)
17g.31337404A>GCA399013067NF1c.6446A>G (p.Glu2149Gly)
c.1028A>G (p.Glu343Gly)
n.1342A>G
c.620A>G (p.Glu207Gly)
n.3109A>G
c.6494A>G (p.Glu2165Gly)
c.6464A>G (p.Glu2155Gly)
c.6401A>G (p.Glu2134Gly)
c.5399A>G (p.Glu1800Gly)
c.6600A>G (n.6600A>G)
c.6455A>G (p.Glu2152Gly)
c.6431A>G (p.Glu2144Gly)
c.6491A>G (p.Glu2164Gly)
17g.31337404A>TCA399013066NF1c.6446A>T (p.Glu2149Val)
c.1028A>T (p.Glu343Val)
n.1342A>T
c.620A>T (p.Glu207Val)
n.3109A>T
c.6494A>T (p.Glu2165Val)
c.6464A>T (p.Glu2155Val)
c.6401A>T (p.Glu2134Val)
c.5399A>T (p.Glu1800Val)
c.6600A>T (n.6600A>T)
c.6455A>T (p.Glu2152Val)
c.6431A>T (p.Glu2144Val)
c.6491A>T (p.Glu2164Val)
 dbSNP
17g.31337405G>ACA499234032NF1c.6447G>A (p.Glu2149=)
c.1029G>A (p.Glu343=)
n.1343G>A
c.621G>A (p.Glu207=)
n.3110G>A
c.6495G>A (p.Glu2165=)
c.6465G>A (p.Glu2155=)
c.6402G>A (p.Glu2134=)
c.5400G>A (p.Glu1800=)
c.6601G>A (n.6601G>A)
c.6456G>A (p.Glu2152=)
c.6432G>A (p.Glu2144=)
c.6492G>A (p.Glu2164=)
 ClinVar dbSNP gnomAD v4
17g.31337405G>CCA399013068NF1c.6447G>C (p.Glu2149Asp)
c.1029G>C (p.Glu343Asp)
n.1343G>C
c.621G>C (p.Glu207Asp)
n.3110G>C
c.6495G>C (p.Glu2165Asp)
c.6465G>C (p.Glu2155Asp)
c.6402G>C (p.Glu2134Asp)
c.5400G>C (p.Glu1800Asp)
c.6601G>C (n.6601G>C)
c.6456G>C (p.Glu2152Asp)
c.6432G>C (p.Glu2144Asp)
c.6492G>C (p.Glu2164Asp)
 dbSNP
17g.31337405G=CA2255601927NF1c.6447G= (p.Glu2149=)
c.1029G= (p.Glu343=)
n.1343G=
c.621G= (p.Glu207=)
n.3110G=
c.6495G= (p.Glu2165=)
c.6465G= (p.Glu2155=)
c.6402G= (p.Glu2134=)
c.5400G= (p.Glu1800=)
c.6601G= (n.6601G=)
c.6456G= (p.Glu2152=)
c.6432G= (p.Glu2144=)
c.6492G= (p.Glu2164=)
17g.31337405G>TCA399013069NF1c.6447G>T (p.Glu2149Asp)
c.1029G>T (p.Glu343Asp)
n.1343G>T
c.621G>T (p.Glu207Asp)
n.3110G>T
c.6495G>T (p.Glu2165Asp)
c.6465G>T (p.Glu2155Asp)
c.6402G>T (p.Glu2134Asp)
c.5400G>T (p.Glu1800Asp)
c.6601G>T (n.6601G>T)
c.6456G>T (p.Glu2152Asp)
c.6432G>T (p.Glu2144Asp)
c.6492G>T (p.Glu2164Asp)
17g.31337406T>ACA399013070NF1c.6448T>A (p.Phe2150Ile)
c.1030T>A (p.Phe344Ile)
n.1344T>A
c.622T>A (p.Phe208Ile)
n.3111T>A
c.6496T>A (p.Phe2166Ile)
c.6466T>A (p.Phe2156Ile)
c.6403T>A (p.Phe2135Ile)
c.5401T>A (p.Phe1801Ile)
c.6602T>A (n.6602T>A)
c.6457T>A (p.Phe2153Ile)
c.6433T>A (p.Phe2145Ile)
c.6493T>A (p.Phe2165Ile)
 dbSNP
17g.31337406T>CCA8487359NF1c.6448T>C (p.Phe2150Leu)
c.1030T>C (p.Phe344Leu)
n.1344T>C
c.622T>C (p.Phe208Leu)
n.3111T>C
c.6496T>C (p.Phe2166Leu)
c.6466T>C (p.Phe2156Leu)
c.6403T>C (p.Phe2135Leu)
c.5401T>C (p.Phe1801Leu)
c.6602T>C (n.6602T>C)
c.6457T>C (p.Phe2153Leu)
c.6433T>C (p.Phe2145Leu)
c.6493T>C (p.Phe2165Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337406T>GCA399013071NF1c.6448T>G (p.Phe2150Val)
c.1030T>G (p.Phe344Val)
n.1344T>G
c.622T>G (p.Phe208Val)
n.3111T>G
c.6496T>G (p.Phe2166Val)
c.6466T>G (p.Phe2156Val)
c.6403T>G (p.Phe2135Val)
c.5401T>G (p.Phe1801Val)
c.6602T>G (n.6602T>G)
c.6457T>G (p.Phe2153Val)
c.6433T>G (p.Phe2145Val)
c.6493T>G (p.Phe2165Val)
 dbSNP
17g.31337406T=CA2255601933NF1c.6448T= (p.Phe2150=)
c.1030T= (p.Phe344=)
n.1344T=
c.622T= (p.Phe208=)
n.3111T=
c.6496T= (p.Phe2166=)
c.6466T= (p.Phe2156=)
c.6403T= (p.Phe2135=)
c.5401T= (p.Phe1801=)
c.6602T= (n.6602T=)
c.6457T= (p.Phe2153=)
c.6433T= (p.Phe2145=)
c.6493T= (p.Phe2165=)
17g.31337407T>ACA399013073NF1c.6449T>A (p.Phe2150Tyr)
c.1031T>A (p.Phe344Tyr)
n.1345T>A
c.623T>A (p.Phe208Tyr)
n.3112T>A
c.6497T>A (p.Phe2166Tyr)
c.6467T>A (p.Phe2156Tyr)
c.6404T>A (p.Phe2135Tyr)
c.5402T>A (p.Phe1801Tyr)
c.6603T>A (n.6603T>A)
c.6458T>A (p.Phe2153Tyr)
c.6434T>A (p.Phe2145Tyr)
c.6494T>A (p.Phe2165Tyr)
17g.31337407T>CCA399013074NF1c.6449T>C (p.Phe2150Ser)
c.1031T>C (p.Phe344Ser)
n.1345T>C
c.623T>C (p.Phe208Ser)
n.3112T>C
c.6497T>C (p.Phe2166Ser)
c.6467T>C (p.Phe2156Ser)
c.6404T>C (p.Phe2135Ser)
c.5402T>C (p.Phe1801Ser)
c.6603T>C (n.6603T>C)
c.6458T>C (p.Phe2153Ser)
c.6434T>C (p.Phe2145Ser)
c.6494T>C (p.Phe2165Ser)
17g.31337407T>GCA399013072NF1c.6449T>G (p.Phe2150Cys)
c.1031T>G (p.Phe344Cys)
n.1345T>G
c.623T>G (p.Phe208Cys)
n.3112T>G
c.6497T>G (p.Phe2166Cys)
c.6467T>G (p.Phe2156Cys)
c.6404T>G (p.Phe2135Cys)
c.5402T>G (p.Phe1801Cys)
c.6603T>G (n.6603T>G)
c.6458T>G (p.Phe2153Cys)
c.6434T>G (p.Phe2145Cys)
c.6494T>G (p.Phe2165Cys)
17g.31337408C>ACA399013075NF1c.6450C>A (p.Phe2150Leu)
c.1032C>A (p.Phe344Leu)
n.1346C>A
c.624C>A (p.Phe208Leu)
n.3113C>A
c.6498C>A (p.Phe2166Leu)
c.6468C>A (p.Phe2156Leu)
c.6405C>A (p.Phe2135Leu)
c.5403C>A (p.Phe1801Leu)
c.6604C>A (n.6604C>A)
c.6459C>A (p.Phe2153Leu)
c.6435C>A (p.Phe2145Leu)
c.6495C>A (p.Phe2165Leu)
 COSMIC
17g.31337408C=CA2255601936NF1c.6450C= (p.Phe2150=)
c.1032C= (p.Phe344=)
n.1346C=
c.624C= (p.Phe208=)
n.3113C=
c.6498C= (p.Phe2166=)
c.6468C= (p.Phe2156=)
c.6405C= (p.Phe2135=)
c.5403C= (p.Phe1801=)
c.6604C= (n.6604C=)
c.6459C= (p.Phe2153=)
c.6435C= (p.Phe2145=)
c.6495C= (p.Phe2165=)
17g.31337408C>GCA8487360NF1c.6450C>G (p.Phe2150Leu)
c.1032C>G (p.Phe344Leu)
n.1346C>G
c.624C>G (p.Phe208Leu)
n.3113C>G
c.6498C>G (p.Phe2166Leu)
c.6468C>G (p.Phe2156Leu)
c.6405C>G (p.Phe2135Leu)
c.5403C>G (p.Phe1801Leu)
c.6604C>G (n.6604C>G)
c.6459C>G (p.Phe2153Leu)
c.6435C>G (p.Phe2145Leu)
c.6495C>G (p.Phe2165Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31337408C>TCA499234033NF1c.6450C>T (p.Phe2150=)
c.1032C>T (p.Phe344=)
n.1346C>T
c.624C>T (p.Phe208=)
n.3113C>T
c.6498C>T (p.Phe2166=)
c.6468C>T (p.Phe2156=)
c.6405C>T (p.Phe2135=)
c.5403C>T (p.Phe1801=)
c.6604C>T (n.6604C>T)
c.6459C>T (p.Phe2153=)
c.6435C>T (p.Phe2145=)
c.6495C>T (p.Phe2165=)
 dbSNP
17g.31337409T>ACA399013076NF1c.6451T>A (p.Ser2151Thr)
c.1033T>A (p.Ser345Thr)
n.1347T>A
c.625T>A (p.Ser209Thr)
n.3114T>A
c.6499T>A (p.Ser2167Thr)
c.6469T>A (p.Ser2157Thr)
c.6406T>A (p.Ser2136Thr)
c.5404T>A (p.Ser1802Thr)
c.6605T>A (n.6605T>A)
c.6460T>A (p.Ser2154Thr)
c.6436T>A (p.Ser2146Thr)
c.6496T>A (p.Ser2166Thr)
17g.31337409T>CCA399013077NF1c.6451T>C (p.Ser2151Pro)
c.1033T>C (p.Ser345Pro)
n.1347T>C
c.625T>C (p.Ser209Pro)
n.3114T>C
c.6499T>C (p.Ser2167Pro)
c.6469T>C (p.Ser2157Pro)
c.6406T>C (p.Ser2136Pro)
c.5404T>C (p.Ser1802Pro)
c.6605T>C (n.6605T>C)
c.6460T>C (p.Ser2154Pro)
c.6436T>C (p.Ser2146Pro)
c.6496T>C (p.Ser2166Pro)
 dbSNP COSMIC COSMIC
17g.31337409T>GCA399013078NF1c.6451T>G (p.Ser2151Ala)
c.1033T>G (p.Ser345Ala)
n.1347T>G
c.625T>G (p.Ser209Ala)
n.3114T>G
c.6499T>G (p.Ser2167Ala)
c.6469T>G (p.Ser2157Ala)
c.6406T>G (p.Ser2136Ala)
c.5404T>G (p.Ser1802Ala)
c.6605T>G (n.6605T>G)
c.6460T>G (p.Ser2154Ala)
c.6436T>G (p.Ser2146Ala)
c.6496T>G (p.Ser2166Ala)
17g.31337409dupCA2695225126NF1c.6451dup (p.Ser2151PhefsTer12)
c.1033dup (p.Ser345PhefsTer12)
n.1347dup
c.625dup (p.Ser209PhefsTer12)
n.3114dup
c.6499dup (p.Ser2167PhefsTer12)
c.6469dup (p.Ser2157PhefsTer12)
c.6406dup (p.Ser2136PhefsTer12)
c.5404dup (p.Ser1802PhefsTer12)
c.6605dup (n.6605dup)
c.6460dup (p.Ser2154PhefsTer12)
c.6436dup (p.Ser2146PhefsTer12)
c.6496dup (p.Ser2166PhefsTer12)
17g.31337410C>ACA399013079NF1c.6452C>A (p.Ser2151Ter)
c.1034C>A (p.Ser345Ter)
n.1348C>A
c.626C>A (p.Ser209Ter)
n.3115C>A
c.6500C>A (p.Ser2167Ter)
c.6470C>A (p.Ser2157Ter)
c.6407C>A (p.Ser2136Ter)
c.5405C>A (p.Ser1802Ter)
c.6606C>A (n.6606C>A)
c.6461C>A (p.Ser2154Ter)
c.6437C>A (p.Ser2146Ter)
c.6497C>A (p.Ser2166Ter)
 ClinVar dbSNP
17g.31337410C=CA2255601942NF1c.6452C= (p.Ser2151=)
c.1034C= (p.Ser345=)
n.1348C=
c.626C= (p.Ser209=)
n.3115C=
c.6500C= (p.Ser2167=)
c.6470C= (p.Ser2157=)
c.6407C= (p.Ser2136=)
c.5405C= (p.Ser1802=)
c.6606C= (n.6606C=)
c.6461C= (p.Ser2154=)
c.6437C= (p.Ser2146=)
c.6497C= (p.Ser2166=)
17g.31337410C>GCA399013080NF1c.6452C>G (p.Ser2151Ter)
c.1034C>G (p.Ser345Ter)
n.1348C>G
c.626C>G (p.Ser209Ter)
n.3115C>G
c.6500C>G (p.Ser2167Ter)
c.6470C>G (p.Ser2157Ter)
c.6407C>G (p.Ser2136Ter)
c.5405C>G (p.Ser1802Ter)
c.6606C>G (n.6606C>G)
c.6461C>G (p.Ser2154Ter)
c.6437C>G (p.Ser2146Ter)
c.6497C>G (p.Ser2166Ter)
 ClinVar dbSNP
17g.31337410C>TCA8487361NF1c.6452C>T (p.Ser2151Leu)
c.1034C>T (p.Ser345Leu)
n.1348C>T
c.626C>T (p.Ser209Leu)
n.3115C>T
c.6500C>T (p.Ser2167Leu)
c.6470C>T (p.Ser2157Leu)
c.6407C>T (p.Ser2136Leu)
c.5405C>T (p.Ser1802Leu)
c.6606C>T (n.6606C>T)
c.6461C>T (p.Ser2154Leu)
c.6437C>T (p.Ser2146Leu)
c.6497C>T (p.Ser2166Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31337411A>CCA499234034NF1c.6453A>C (p.Ser2151=)
c.1035A>C (p.Ser345=)
n.1349A>C
c.627A>C (p.Ser209=)
n.3116A>C
c.6501A>C (p.Ser2167=)
c.6471A>C (p.Ser2157=)
c.6408A>C (p.Ser2136=)
c.5406A>C (p.Ser1802=)
c.6607A>C (n.6607A>C)
c.6462A>C (p.Ser2154=)
c.6438A>C (p.Ser2146=)
c.6498A>C (p.Ser2166=)
17g.31337411A>GCA499234035NF1c.6453A>G (p.Ser2151=)
c.1035A>G (p.Ser345=)
n.1349A>G
c.627A>G (p.Ser209=)
n.3116A>G
c.6501A>G (p.Ser2167=)
c.6471A>G (p.Ser2157=)
c.6408A>G (p.Ser2136=)
c.5406A>G (p.Ser1802=)
c.6607A>G (n.6607A>G)
c.6462A>G (p.Ser2154=)
c.6438A>G (p.Ser2146=)
c.6498A>G (p.Ser2166=)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.31337411A>TCA499234036NF1c.6453A>T (p.Ser2151=)
c.1035A>T (p.Ser345=)
n.1349A>T
c.627A>T (p.Ser209=)
n.3116A>T
c.6501A>T (p.Ser2167=)
c.6471A>T (p.Ser2157=)
c.6408A>T (p.Ser2136=)
c.5406A>T (p.Ser1802=)
c.6607A>T (n.6607A>T)
c.6462A>T (p.Ser2154=)
c.6438A>T (p.Ser2146=)
c.6498A>T (p.Ser2166=)
 ClinVar dbSNP
17g.31337412T>ACA399013081NF1c.6454T>A (p.Leu2152Ile)
c.1036T>A (p.Leu346Ile)
n.1350T>A
c.628T>A (p.Leu210Ile)
n.3117T>A
c.6502T>A (p.Leu2168Ile)
c.6472T>A (p.Leu2158Ile)
c.6409T>A (p.Leu2137Ile)
c.5407T>A (p.Leu1803Ile)
c.6608T>A (n.6608T>A)
c.6463T>A (p.Leu2155Ile)
c.6439T>A (p.Leu2147Ile)
c.6499T>A (p.Leu2167Ile)
 dbSNP
17g.31337412T>CCA499234038NF1c.6454T>C (p.Leu2152=)
c.1036T>C (p.Leu346=)
n.1350T>C
c.628T>C (p.Leu210=)
n.3117T>C
c.6502T>C (p.Leu2168=)
c.6472T>C (p.Leu2158=)
c.6409T>C (p.Leu2137=)
c.5407T>C (p.Leu1803=)
c.6608T>C (n.6608T>C)
c.6463T>C (p.Leu2155=)
c.6439T>C (p.Leu2147=)
c.6499T>C (p.Leu2167=)
 ClinVar dbSNP
17g.31337412T>GCA399013082NF1c.6454T>G (p.Leu2152Val)
c.1036T>G (p.Leu346Val)
n.1350T>G
c.628T>G (p.Leu210Val)
n.3117T>G
c.6502T>G (p.Leu2168Val)
c.6472T>G (p.Leu2158Val)
c.6409T>G (p.Leu2137Val)
c.5407T>G (p.Leu1803Val)
c.6608T>G (n.6608T>G)
c.6463T>G (p.Leu2155Val)
c.6439T>G (p.Leu2147Val)
c.6499T>G (p.Leu2167Val)
17g.31337412T=CA2255601948NF1c.6454T= (p.Leu2152=)
c.1036T= (p.Leu346=)
n.1350T=
c.628T= (p.Leu210=)
n.3117T=
c.6502T= (p.Leu2168=)
c.6472T= (p.Leu2158=)
c.6409T= (p.Leu2137=)
c.5407T= (p.Leu1803=)
c.6608T= (n.6608T=)
c.6463T= (p.Leu2155=)
c.6439T= (p.Leu2147=)
c.6499T= (p.Leu2167=)
17g.31337412_31337413delCA645596519NF1c.6454_6455del (p.Leu2152ThrfsTer10)
c.1036_1037del (p.Leu346ThrfsTer10)
n.1350_1351del
c.628_629del (p.Leu210ThrfsTer10)
n.3117_3118del
c.6502_6503del (p.Leu2168ThrfsTer10)
c.6472_6473del (p.Leu2158ThrfsTer10)
c.6409_6410del (p.Leu2137ThrfsTer10)
c.5407_5408del (p.Leu1803ThrfsTer10)
c.6608_6609del (n.6608_6609del)
c.6463_6464del (p.Leu2155ThrfsTer10)
c.6439_6440del (p.Leu2147ThrfsTer10)
c.6499_6500del (p.Leu2167ThrfsTer10)
 COSMIC
17g.31337413delCA499234037NF1c.6455del (p.Leu2152TyrfsTer?)
c.1037del (p.Leu346TyrfsTer?)
n.1351del
c.629del (p.Leu210TyrfsTer?)
n.3118del
c.6503del (p.Leu2168TyrfsTer?)
c.6473del (p.Leu2158TyrfsTer?)
c.6410del (p.Leu2137TyrfsTer?)
c.5408del (p.Leu1803TyrfsTer?)
c.6609del (n.6609del)
c.6464del (p.Leu2155TyrfsTer?)
c.6440del (p.Leu2147TyrfsTer?)
c.6500del (p.Leu2167TyrfsTer?)
 COSMIC
17g.31337413T>ACA399013083NF1c.6455T>A (p.Leu2152Ter)
c.1037T>A (p.Leu346Ter)
n.1351T>A
c.629T>A (p.Leu210Ter)
n.3118T>A
c.6503T>A (p.Leu2168Ter)
c.6473T>A (p.Leu2158Ter)
c.6410T>A (p.Leu2137Ter)
c.5408T>A (p.Leu1803Ter)
c.6609T>A (n.6609T>A)
c.6464T>A (p.Leu2155Ter)
c.6440T>A (p.Leu2147Ter)
c.6500T>A (p.Leu2167Ter)
 ClinVar dbSNP
17g.31337413T>CCA399013084NF1c.6455T>C (p.Leu2152Ser)
c.1037T>C (p.Leu346Ser)
n.1351T>C
c.629T>C (p.Leu210Ser)
n.3118T>C
c.6503T>C (p.Leu2168Ser)
c.6473T>C (p.Leu2158Ser)
c.6410T>C (p.Leu2137Ser)
c.5408T>C (p.Leu1803Ser)
c.6609T>C (n.6609T>C)
c.6464T>C (p.Leu2155Ser)
c.6440T>C (p.Leu2147Ser)
c.6500T>C (p.Leu2167Ser)
17g.31337413T>GCA399013085NF1c.6455T>G (p.Leu2152Ter)
c.1037T>G (p.Leu346Ter)
n.1351T>G
c.629T>G (p.Leu210Ter)
n.3118T>G
c.6503T>G (p.Leu2168Ter)
c.6473T>G (p.Leu2158Ter)
c.6410T>G (p.Leu2137Ter)
c.5408T>G (p.Leu1803Ter)
c.6609T>G (n.6609T>G)
c.6464T>G (p.Leu2155Ter)
c.6440T>G (p.Leu2147Ter)
c.6500T>G (p.Leu2167Ter)
 COSMIC
17g.31337414A>CCA399013087NF1c.6456A>C (p.Leu2152Phe)
c.1038A>C (p.Leu346Phe)
n.1352A>C
c.630A>C (p.Leu210Phe)
n.3119A>C
c.6504A>C (p.Leu2168Phe)
c.6474A>C (p.Leu2158Phe)
c.6411A>C (p.Leu2137Phe)
c.5409A>C (p.Leu1803Phe)
c.6610A>C (n.6610A>C)
c.6465A>C (p.Leu2155Phe)
c.6441A>C (p.Leu2147Phe)
c.6501A>C (p.Leu2167Phe)
17g.31337414A>GCA499234039NF1c.6456A>G (p.Leu2152=)
c.1038A>G (p.Leu346=)
n.1352A>G
c.630A>G (p.Leu210=)
n.3119A>G
c.6504A>G (p.Leu2168=)
c.6474A>G (p.Leu2158=)
c.6411A>G (p.Leu2137=)
c.5409A>G (p.Leu1803=)
c.6610A>G (n.6610A>G)
c.6465A>G (p.Leu2155=)
c.6441A>G (p.Leu2147=)
c.6501A>G (p.Leu2167=)
 dbSNP
17g.31337414A>TCA399013086NF1c.6456A>T (p.Leu2152Phe)
c.1038A>T (p.Leu346Phe)
n.1352A>T
c.630A>T (p.Leu210Phe)
n.3119A>T
c.6504A>T (p.Leu2168Phe)
c.6474A>T (p.Leu2158Phe)
c.6411A>T (p.Leu2137Phe)
c.5409A>T (p.Leu1803Phe)
c.6610A>T (n.6610A>T)
c.6465A>T (p.Leu2155Phe)
c.6441A>T (p.Leu2147Phe)
c.6501A>T (p.Leu2167Phe)
 dbSNP
17g.31337415C>ACA399013088NF1c.6457C>A (p.Pro2153Thr)
c.1039C>A (p.Pro347Thr)
n.1353C>A
c.631C>A (p.Pro211Thr)
n.3120C>A
c.6505C>A (p.Pro2169Thr)
c.6475C>A (p.Pro2159Thr)
c.6412C>A (p.Pro2138Thr)
c.5410C>A (p.Pro1804Thr)
c.6611C>A (n.6611C>A)
c.6466C>A (p.Pro2156Thr)
c.6442C>A (p.Pro2148Thr)
c.6502C>A (p.Pro2168Thr)
 dbSNP
17g.31337415C>GCA399013089NF1c.6457C>G (p.Pro2153Ala)
c.1039C>G (p.Pro347Ala)
n.1353C>G
c.631C>G (p.Pro211Ala)
n.3120C>G
c.6505C>G (p.Pro2169Ala)
c.6475C>G (p.Pro2159Ala)
c.6412C>G (p.Pro2138Ala)
c.5410C>G (p.Pro1804Ala)
c.6611C>G (n.6611C>G)
c.6466C>G (p.Pro2156Ala)
c.6442C>G (p.Pro2148Ala)
c.6502C>G (p.Pro2168Ala)
 dbSNP
17g.31337415C>TCA399013090NF1c.6457C>T (p.Pro2153Ser)
c.1039C>T (p.Pro347Ser)
n.1353C>T
c.631C>T (p.Pro211Ser)
n.3120C>T
c.6505C>T (p.Pro2169Ser)
c.6475C>T (p.Pro2159Ser)
c.6412C>T (p.Pro2138Ser)
c.5410C>T (p.Pro1804Ser)
c.6611C>T (n.6611C>T)
c.6466C>T (p.Pro2156Ser)
c.6442C>T (p.Pro2148Ser)
c.6502C>T (p.Pro2168Ser)
 ClinVar dbSNP gnomAD v4
17g.31337417delCA2499224190NF1c.6459del (p.Lys2154AsnfsTer?)
c.1041del (p.Lys348AsnfsTer?)
n.1355del
c.633del (p.Lys212AsnfsTer?)
n.3122del
c.6507del (p.Lys2170AsnfsTer?)
c.6477del (p.Lys2160AsnfsTer?)
c.6414del (p.Lys2139AsnfsTer?)
c.5412del (p.Lys1805AsnfsTer?)
c.6613del (n.6613del)
c.6468del (p.Lys2157AsnfsTer?)
c.6444del (p.Lys2149AsnfsTer?)
c.6504del (p.Lys2169AsnfsTer?)
 ClinVar dbSNP
17g.31337416C>ACA399013091NF1c.6458C>A (p.Pro2153His)
c.1040C>A (p.Pro347His)
n.1354C>A
c.632C>A (p.Pro211His)
n.3121C>A
c.6506C>A (p.Pro2169His)
c.6476C>A (p.Pro2159His)
c.6413C>A (p.Pro2138His)
c.5411C>A (p.Pro1804His)
c.6612C>A (n.6612C>A)
c.6467C>A (p.Pro2156His)
c.6443C>A (p.Pro2148His)
c.6503C>A (p.Pro2168His)
 dbSNP
17g.31337416C>GCA399013092NF1c.6458C>G (p.Pro2153Arg)
c.1040C>G (p.Pro347Arg)
n.1354C>G
c.632C>G (p.Pro211Arg)
n.3121C>G
c.6506C>G (p.Pro2169Arg)
c.6476C>G (p.Pro2159Arg)
c.6413C>G (p.Pro2138Arg)
c.5411C>G (p.Pro1804Arg)
c.6612C>G (n.6612C>G)
c.6467C>G (p.Pro2156Arg)
c.6443C>G (p.Pro2148Arg)
c.6503C>G (p.Pro2168Arg)
 dbSNP
17g.31337416C>TCA399013093NF1c.6458C>T (p.Pro2153Leu)
c.1040C>T (p.Pro347Leu)
n.1354C>T
c.632C>T (p.Pro211Leu)
n.3121C>T
c.6506C>T (p.Pro2169Leu)
c.6476C>T (p.Pro2159Leu)
c.6413C>T (p.Pro2138Leu)
c.5411C>T (p.Pro1804Leu)
c.6612C>T (n.6612C>T)
c.6467C>T (p.Pro2156Leu)
c.6443C>T (p.Pro2148Leu)
c.6503C>T (p.Pro2168Leu)
 dbSNP
17g.31337417C>ACA499234041NF1c.6459C>A (p.Pro2153=)
c.1041C>A (p.Pro347=)
n.1355C>A
c.633C>A (p.Pro211=)
n.3122C>A
c.6507C>A (p.Pro2169=)
c.6477C>A (p.Pro2159=)
c.6414C>A (p.Pro2138=)
c.5412C>A (p.Pro1804=)
c.6613C>A (n.6613C>A)
c.6468C>A (p.Pro2156=)
c.6444C>A (p.Pro2148=)
c.6504C>A (p.Pro2168=)
 dbSNP
17g.31337417C>GCA499234042NF1c.6459C>G (p.Pro2153=)
c.1041C>G (p.Pro347=)
n.1355C>G
c.633C>G (p.Pro211=)
n.3122C>G
c.6507C>G (p.Pro2169=)
c.6477C>G (p.Pro2159=)
c.6414C>G (p.Pro2138=)
c.5412C>G (p.Pro1804=)
c.6613C>G (n.6613C>G)
c.6468C>G (p.Pro2156=)
c.6444C>G (p.Pro2148=)
c.6504C>G (p.Pro2168=)
 dbSNP
17g.31337417C>TCA499234040NF1c.6459C>T (p.Pro2153=)
c.1041C>T (p.Pro347=)
n.1355C>T
c.633C>T (p.Pro211=)
n.3122C>T
c.6507C>T (p.Pro2169=)
c.6477C>T (p.Pro2159=)
c.6414C>T (p.Pro2138=)
c.5412C>T (p.Pro1804=)
c.6613C>T (n.6613C>T)
c.6468C>T (p.Pro2156=)
c.6444C>T (p.Pro2148=)
c.6504C>T (p.Pro2168=)
 ClinVar dbSNP
17g.31337418A>CCA399013096NF1c.6460A>C (p.Lys2154Gln)
c.1042A>C (p.Lys348Gln)
n.1356A>C
c.634A>C (p.Lys212Gln)
n.3123A>C
c.6508A>C (p.Lys2170Gln)
c.6478A>C (p.Lys2160Gln)
c.6415A>C (p.Lys2139Gln)
c.5413A>C (p.Lys1805Gln)
c.6614A>C (n.6614A>C)
c.6469A>C (p.Lys2157Gln)
c.6445A>C (p.Lys2149Gln)
c.6505A>C (p.Lys2169Gln)
 ClinVar dbSNP
17g.31337418A>GCA399013094NF1c.6460A>G (p.Lys2154Glu)
c.1042A>G (p.Lys348Glu)
n.1356A>G
c.634A>G (p.Lys212Glu)
n.3123A>G
c.6508A>G (p.Lys2170Glu)
c.6478A>G (p.Lys2160Glu)
c.6415A>G (p.Lys2139Glu)
c.5413A>G (p.Lys1805Glu)
c.6614A>G (n.6614A>G)
c.6469A>G (p.Lys2157Glu)
c.6445A>G (p.Lys2149Glu)
c.6505A>G (p.Lys2169Glu)
 dbSNP
17g.31337418A>TCA399013095NF1c.6460A>T (p.Lys2154Ter)
c.1042A>T (p.Lys348Ter)
n.1356A>T
c.634A>T (p.Lys212Ter)
n.3123A>T
c.6508A>T (p.Lys2170Ter)
c.6478A>T (p.Lys2160Ter)
c.6415A>T (p.Lys2139Ter)
c.5413A>T (p.Lys1805Ter)
c.6614A>T (n.6614A>T)
c.6469A>T (p.Lys2157Ter)
c.6445A>T (p.Lys2149Ter)
c.6505A>T (p.Lys2169Ter)
 dbSNP
17g.31337419A>CCA399013097NF1c.6461A>C (p.Lys2154Thr)
c.1043A>C (p.Lys348Thr)
n.1357A>C
c.635A>C (p.Lys212Thr)
n.3124A>C
c.6509A>C (p.Lys2170Thr)
c.6479A>C (p.Lys2160Thr)
c.6416A>C (p.Lys2139Thr)
c.5414A>C (p.Lys1805Thr)
c.6615A>C (n.6615A>C)
c.6470A>C (p.Lys2157Thr)
c.6446A>C (p.Lys2149Thr)
c.6506A>C (p.Lys2169Thr)
17g.31337419A>GCA399013098NF1c.6461A>G (p.Lys2154Arg)
c.1043A>G (p.Lys348Arg)
n.1357A>G
c.635A>G (p.Lys212Arg)
n.3124A>G
c.6509A>G (p.Lys2170Arg)
c.6479A>G (p.Lys2160Arg)
c.6416A>G (p.Lys2139Arg)
c.5414A>G (p.Lys1805Arg)
c.6615A>G (n.6615A>G)
c.6470A>G (p.Lys2157Arg)
c.6446A>G (p.Lys2149Arg)
c.6506A>G (p.Lys2169Arg)
 ClinVar dbSNP
17g.31337419A>TCA399013099NF1c.6461A>T (p.Lys2154Ile)
c.1043A>T (p.Lys348Ile)
n.1357A>T
c.635A>T (p.Lys212Ile)
n.3124A>T
c.6509A>T (p.Lys2170Ile)
c.6479A>T (p.Lys2160Ile)
c.6416A>T (p.Lys2139Ile)
c.5414A>T (p.Lys1805Ile)
c.6615A>T (n.6615A>T)
c.6470A>T (p.Lys2157Ile)
c.6446A>T (p.Lys2149Ile)
c.6506A>T (p.Lys2169Ile)
 dbSNP
17g.31337420A=CA2255601958NF1c.6462A= (p.Lys2154=)
c.1044A= (p.Lys348=)
n.1358A=
c.636A= (p.Lys212=)
n.3125A=
c.6510A= (p.Lys2170=)
c.6480A= (p.Lys2160=)
c.6417A= (p.Lys2139=)
c.5415A= (p.Lys1805=)
c.6616A= (n.6616A=)
c.6471A= (p.Lys2157=)
c.6447A= (p.Lys2149=)
c.6507A= (p.Lys2169=)
17g.31337420A>CCA399013100NF1c.6462A>C (p.Lys2154Asn)
c.1044A>C (p.Lys348Asn)
n.1358A>C
c.636A>C (p.Lys212Asn)
n.3125A>C
c.6510A>C (p.Lys2170Asn)
c.6480A>C (p.Lys2160Asn)
c.6417A>C (p.Lys2139Asn)
c.5415A>C (p.Lys1805Asn)
c.6616A>C (n.6616A>C)
c.6471A>C (p.Lys2157Asn)
c.6447A>C (p.Lys2149Asn)
c.6507A>C (p.Lys2169Asn)
17g.31337420A>GCA16615668NF1c.6462A>G (p.Lys2154=)
c.1044A>G (p.Lys348=)
n.1358A>G
c.636A>G (p.Lys212=)
n.3125A>G
c.6510A>G (p.Lys2170=)
c.6480A>G (p.Lys2160=)
c.6417A>G (p.Lys2139=)
c.5415A>G (p.Lys1805=)
c.6616A>G (n.6616A>G)
c.6471A>G (p.Lys2157=)
c.6447A>G (p.Lys2149=)
c.6507A>G (p.Lys2169=)
 ClinVar dbSNP
17g.31337420A>TCA399013101NF1c.6462A>T (p.Lys2154Asn)
c.1044A>T (p.Lys348Asn)
n.1358A>T
c.636A>T (p.Lys212Asn)
n.3125A>T
c.6510A>T (p.Lys2170Asn)
c.6480A>T (p.Lys2160Asn)
c.6417A>T (p.Lys2139Asn)
c.5415A>T (p.Lys1805Asn)
c.6616A>T (n.6616A>T)
c.6471A>T (p.Lys2157Asn)
c.6447A>T (p.Lys2149Asn)
c.6507A>T (p.Lys2169Asn)
 ClinVar
17g.31337420_31337430delCA2695225127NF1c.6462_6472del (p.Lys2154AsnfsTer5)
c.1044_1054del (p.Lys348AsnfsTer5)
n.1358_1368del
c.636_646del (p.Lys212AsnfsTer5)
n.3125_3135del
c.6510_6520del (p.Lys2170AsnfsTer5)
c.6480_6490del (p.Lys2160AsnfsTer5)
c.6417_6427del (p.Lys2139AsnfsTer5)
c.5415_5425del (p.Lys1805AsnfsTer5)
c.6616_6626del (n.6616_6626del)
c.6471_6481del (p.Lys2157AsnfsTer5)
c.6447_6457del (p.Lys2149AsnfsTer5)
c.6507_6517del (p.Lys2169AsnfsTer5)
17g.31337421T>ACA399013102NF1c.6463T>A (p.Phe2155Ile)
c.1045T>A (p.Phe349Ile)
n.1359T>A
c.637T>A (p.Phe213Ile)
n.3126T>A
c.6511T>A (p.Phe2171Ile)
c.6481T>A (p.Phe2161Ile)
c.6418T>A (p.Phe2140Ile)
c.5416T>A (p.Phe1806Ile)
c.6617T>A (n.6617T>A)
c.6472T>A (p.Phe2158Ile)
c.6448T>A (p.Phe2150Ile)
c.6508T>A (p.Phe2170Ile)
 dbSNP
17g.31337421T>CCA399013104NF1c.6463T>C (p.Phe2155Leu)
c.1045T>C (p.Phe349Leu)
n.1359T>C
c.637T>C (p.Phe213Leu)
n.3126T>C
c.6511T>C (p.Phe2171Leu)
c.6481T>C (p.Phe2161Leu)
c.6418T>C (p.Phe2140Leu)
c.5416T>C (p.Phe1806Leu)
c.6617T>C (n.6617T>C)
c.6472T>C (p.Phe2158Leu)
c.6448T>C (p.Phe2150Leu)
c.6508T>C (p.Phe2170Leu)
17g.31337421T>GCA399013103NF1c.6463T>G (p.Phe2155Val)
c.1045T>G (p.Phe349Val)
n.1359T>G
c.637T>G (p.Phe213Val)
n.3126T>G
c.6511T>G (p.Phe2171Val)
c.6481T>G (p.Phe2161Val)
c.6418T>G (p.Phe2140Val)
c.5416T>G (p.Phe1806Val)
c.6617T>G (n.6617T>G)
c.6472T>G (p.Phe2158Val)
c.6448T>G (p.Phe2150Val)
c.6508T>G (p.Phe2170Val)
 dbSNP
17g.31337424delCA2573153837NF1c.6466del (p.Tyr2156ThrfsTer?)
c.1048del (p.Tyr350ThrfsTer?)
n.1362del
c.640del (p.Tyr214ThrfsTer?)
n.3129del
c.6514del (p.Tyr2172ThrfsTer?)
c.6484del (p.Tyr2162ThrfsTer?)
c.6421del (p.Tyr2141ThrfsTer?)
c.5419del (p.Tyr1807ThrfsTer?)
c.6620del (n.6620del)
c.6475del (p.Tyr2159ThrfsTer?)
c.6451del (p.Tyr2151ThrfsTer?)
c.6511del (p.Tyr2171ThrfsTer?)
 ClinVar dbSNP
17g.31337422T>ACA399013105NF1c.6464T>A (p.Phe2155Tyr)
c.1046T>A (p.Phe349Tyr)
n.1360T>A
c.638T>A (p.Phe213Tyr)
n.3127T>A
c.6512T>A (p.Phe2171Tyr)
c.6482T>A (p.Phe2161Tyr)
c.6419T>A (p.Phe2140Tyr)
c.5417T>A (p.Phe1806Tyr)
c.6618T>A (n.6618T>A)
c.6473T>A (p.Phe2158Tyr)
c.6449T>A (p.Phe2150Tyr)
c.6509T>A (p.Phe2170Tyr)
 ClinVar dbSNP
17g.31337422T>CCA399013106NF1c.6464T>C (p.Phe2155Ser)
c.1046T>C (p.Phe349Ser)
n.1360T>C
c.638T>C (p.Phe213Ser)
n.3127T>C
c.6512T>C (p.Phe2171Ser)
c.6482T>C (p.Phe2161Ser)
c.6419T>C (p.Phe2140Ser)
c.5417T>C (p.Phe1806Ser)
c.6618T>C (n.6618T>C)
c.6473T>C (p.Phe2158Ser)
c.6449T>C (p.Phe2150Ser)
c.6509T>C (p.Phe2170Ser)
17g.31337422T>GCA399013107NF1c.6464T>G (p.Phe2155Cys)
c.1046T>G (p.Phe349Cys)
n.1360T>G
c.638T>G (p.Phe213Cys)
n.3127T>G
c.6512T>G (p.Phe2171Cys)
c.6482T>G (p.Phe2161Cys)
c.6419T>G (p.Phe2140Cys)
c.5417T>G (p.Phe1806Cys)
c.6618T>G (n.6618T>G)
c.6473T>G (p.Phe2158Cys)
c.6449T>G (p.Phe2150Cys)
c.6509T>G (p.Phe2170Cys)
17g.31337423T>ACA399013108NF1c.6465T>A (p.Phe2155Leu)
c.1047T>A (p.Phe349Leu)
n.1361T>A
c.639T>A (p.Phe213Leu)
n.3128T>A
c.6513T>A (p.Phe2171Leu)
c.6483T>A (p.Phe2161Leu)
c.6420T>A (p.Phe2140Leu)
c.5418T>A (p.Phe1806Leu)
c.6619T>A (n.6619T>A)
c.6474T>A (p.Phe2158Leu)
c.6450T>A (p.Phe2150Leu)
c.6510T>A (p.Phe2170Leu)
17g.31337423T>CCA499234043NF1c.6465T>C (p.Phe2155=)
c.1047T>C (p.Phe349=)
n.1361T>C
c.639T>C (p.Phe213=)
n.3128T>C
c.6513T>C (p.Phe2171=)
c.6483T>C (p.Phe2161=)
c.6420T>C (p.Phe2140=)
c.5418T>C (p.Phe1806=)
c.6619T>C (n.6619T>C)
c.6474T>C (p.Phe2158=)
c.6450T>C (p.Phe2150=)
c.6510T>C (p.Phe2170=)
17g.31337423T>GCA399013109NF1c.6465T>G (p.Phe2155Leu)
c.1047T>G (p.Phe349Leu)
n.1361T>G
c.639T>G (p.Phe213Leu)
n.3128T>G
c.6513T>G (p.Phe2171Leu)
c.6483T>G (p.Phe2161Leu)
c.6420T>G (p.Phe2140Leu)
c.5418T>G (p.Phe1806Leu)
c.6619T>G (n.6619T>G)
c.6474T>G (p.Phe2158Leu)
c.6450T>G (p.Phe2150Leu)
c.6510T>G (p.Phe2170Leu)
17g.31337424T>ACA399013110NF1c.6466T>A (p.Tyr2156Asn)
c.1048T>A (p.Tyr350Asn)
n.1362T>A
c.640T>A (p.Tyr214Asn)
n.3129T>A
c.6514T>A (p.Tyr2172Asn)
c.6484T>A (p.Tyr2162Asn)
c.6421T>A (p.Tyr2141Asn)
c.5419T>A (p.Tyr1807Asn)
c.6620T>A (n.6620T>A)
c.6475T>A (p.Tyr2159Asn)
c.6451T>A (p.Tyr2151Asn)
c.6511T>A (p.Tyr2171Asn)
 dbSNP
17g.31337424T>CCA399013111NF1c.6466T>C (p.Tyr2156His)
c.1048T>C (p.Tyr350His)
n.1362T>C
c.640T>C (p.Tyr214His)
n.3129T>C
c.6514T>C (p.Tyr2172His)
c.6484T>C (p.Tyr2162His)
c.6421T>C (p.Tyr2141His)
c.5419T>C (p.Tyr1807His)
c.6620T>C (n.6620T>C)
c.6475T>C (p.Tyr2159His)
c.6451T>C (p.Tyr2151His)
c.6511T>C (p.Tyr2171His)
 dbSNP
17g.31337424T>GCA399013112NF1c.6466T>G (p.Tyr2156Asp)
c.1048T>G (p.Tyr350Asp)
n.1362T>G
c.640T>G (p.Tyr214Asp)
n.3129T>G
c.6514T>G (p.Tyr2172Asp)
c.6484T>G (p.Tyr2162Asp)
c.6421T>G (p.Tyr2141Asp)
c.5419T>G (p.Tyr1807Asp)
c.6620T>G (n.6620T>G)
c.6475T>G (p.Tyr2159Asp)
c.6451T>G (p.Tyr2151Asp)
c.6511T>G (p.Tyr2171Asp)
17g.31337425A>CCA399013113NF1c.6467A>C (p.Tyr2156Ser)
c.1049A>C (p.Tyr350Ser)
n.1363A>C
c.641A>C (p.Tyr214Ser)
n.3130A>C
c.6515A>C (p.Tyr2172Ser)
c.6485A>C (p.Tyr2162Ser)
c.6422A>C (p.Tyr2141Ser)
c.5420A>C (p.Tyr1807Ser)
c.6621A>C (n.6621A>C)
c.6476A>C (p.Tyr2159Ser)
c.6452A>C (p.Tyr2151Ser)
c.6512A>C (p.Tyr2171Ser)
 dbSNP
17g.31337425A>GCA399013114NF1c.6467A>G (p.Tyr2156Cys)
c.1049A>G (p.Tyr350Cys)
n.1363A>G
c.641A>G (p.Tyr214Cys)
n.3130A>G
c.6515A>G (p.Tyr2172Cys)
c.6485A>G (p.Tyr2162Cys)
c.6422A>G (p.Tyr2141Cys)
c.5420A>G (p.Tyr1807Cys)
c.6621A>G (n.6621A>G)
c.6476A>G (p.Tyr2159Cys)
c.6452A>G (p.Tyr2151Cys)
c.6512A>G (p.Tyr2171Cys)
 dbSNP
17g.31337425A>TCA399013115NF1c.6467A>T (p.Tyr2156Phe)
c.1049A>T (p.Tyr350Phe)
n.1363A>T
c.641A>T (p.Tyr214Phe)
n.3130A>T
c.6515A>T (p.Tyr2172Phe)
c.6485A>T (p.Tyr2162Phe)
c.6422A>T (p.Tyr2141Phe)
c.5420A>T (p.Tyr1807Phe)
c.6621A>T (n.6621A>T)
c.6476A>T (p.Tyr2159Phe)
c.6452A>T (p.Tyr2151Phe)
c.6512A>T (p.Tyr2171Phe)
 dbSNP
17g.31337426C>ACA399013116NF1c.6468C>A (p.Tyr2156Ter)
c.1050C>A (p.Tyr350Ter)
n.1364C>A
c.642C>A (p.Tyr214Ter)
n.3131C>A
c.6516C>A (p.Tyr2172Ter)
c.6486C>A (p.Tyr2162Ter)
c.6423C>A (p.Tyr2141Ter)
c.5421C>A (p.Tyr1807Ter)
c.6622C>A (n.6622C>A)
c.6477C>A (p.Tyr2159Ter)
c.6453C>A (p.Tyr2151Ter)
c.6513C>A (p.Tyr2171Ter)
 ClinVar dbSNP
17g.31337426C=CA2255601961NF1c.6468C= (p.Tyr2156=)
c.1050C= (p.Tyr350=)
n.1364C=
c.642C= (p.Tyr214=)
n.3131C=
c.6516C= (p.Tyr2172=)
c.6486C= (p.Tyr2162=)
c.6423C= (p.Tyr2141=)
c.5421C= (p.Tyr1807=)
c.6622C= (n.6622C=)
c.6477C= (p.Tyr2159=)
c.6453C= (p.Tyr2151=)
c.6513C= (p.Tyr2171=)
17g.31337426C>GCA399013117NF1c.6468C>G (p.Tyr2156Ter)
c.1050C>G (p.Tyr350Ter)
n.1364C>G
c.642C>G (p.Tyr214Ter)
n.3131C>G
c.6516C>G (p.Tyr2172Ter)
c.6486C>G (p.Tyr2162Ter)
c.6423C>G (p.Tyr2141Ter)
c.5421C>G (p.Tyr1807Ter)
c.6622C>G (n.6622C>G)
c.6477C>G (p.Tyr2159Ter)
c.6453C>G (p.Tyr2151Ter)
c.6513C>G (p.Tyr2171Ter)
 ClinVar dbSNP
17g.31337426C>TCA499234044NF1c.6468C>T (p.Tyr2156=)
c.1050C>T (p.Tyr350=)
n.1364C>T
c.642C>T (p.Tyr214=)
n.3131C>T
c.6516C>T (p.Tyr2172=)
c.6486C>T (p.Tyr2162=)
c.6423C>T (p.Tyr2141=)
c.5421C>T (p.Tyr1807=)
c.6622C>T (n.6622C>T)
c.6477C>T (p.Tyr2159=)
c.6453C>T (p.Tyr2151=)
c.6513C>T (p.Tyr2171=)
 dbSNP
17g.31337426_31337428delinsCTTCA2255601960NF1c.6468_6470delinsCTT (p.Tyr2156=)
c.1050_1052delinsCTT (p.Tyr350=)
n.1364_1366delinsCTT
c.642_644delinsCTT (p.Tyr214=)
n.3131_3133delinsCTT
c.6516_6518delinsCTT (p.Tyr2172=)
c.6486_6488delinsCTT (p.Tyr2162=)
c.6423_6425delinsCTT (p.Tyr2141=)
c.5421_5423delinsCTT (p.Tyr1807=)
c.6622_6624delinsCTT (n.6622_6624delinsCTT)
c.6477_6479delinsCTT (p.Tyr2159=)
c.6453_6455delinsCTT (p.Tyr2151=)
c.6513_6515delinsCTT (p.Tyr2171=)
17g.31337427T>ACA399013119NF1c.6469T>A (p.Leu2157Met)
c.1051T>A (p.Leu351Met)
n.1365T>A
c.643T>A (p.Leu215Met)
n.3132T>A
c.6517T>A (p.Leu2173Met)
c.6487T>A (p.Leu2163Met)
c.6424T>A (p.Leu2142Met)
c.5422T>A (p.Leu1808Met)
c.6623T>A (n.6623T>A)
c.6478T>A (p.Leu2160Met)
c.6454T>A (p.Leu2152Met)
c.6514T>A (p.Leu2172Met)
 dbSNP
17g.31337427T>CCA499234045NF1c.6469T>C (p.Leu2157=)
c.1051T>C (p.Leu351=)
n.1365T>C
c.643T>C (p.Leu215=)
n.3132T>C
c.6517T>C (p.Leu2173=)
c.6487T>C (p.Leu2163=)
c.6424T>C (p.Leu2142=)
c.5422T>C (p.Leu1808=)
c.6623T>C (n.6623T>C)
c.6478T>C (p.Leu2160=)
c.6454T>C (p.Leu2152=)
c.6514T>C (p.Leu2172=)
 dbSNP
17g.31337427T>GCA399013118NF1c.6469T>G (p.Leu2157Val)
c.1051T>G (p.Leu351Val)
n.1365T>G
c.643T>G (p.Leu215Val)
n.3132T>G
c.6517T>G (p.Leu2173Val)
c.6487T>G (p.Leu2163Val)
c.6424T>G (p.Leu2142Val)
c.5422T>G (p.Leu1808Val)
c.6623T>G (n.6623T>G)
c.6478T>G (p.Leu2160Val)
c.6454T>G (p.Leu2152Val)
c.6514T>G (p.Leu2172Val)
17g.31337427_31337428delCA16615562NF1c.6469_6470del (p.Leu2157AlafsTer5)
c.1051_1052del (p.Leu351AlafsTer5)
n.1365_1366del
c.643_644del (p.Leu215AlafsTer5)
n.3132_3133del
c.6517_6518del (p.Leu2173AlafsTer5)
c.6487_6488del (p.Leu2163AlafsTer5)
c.6424_6425del (p.Leu2142AlafsTer5)
c.5422_5423del (p.Leu1808AlafsTer5)
c.6623_6624del (n.6623_6624del)
c.6478_6479del (p.Leu2160AlafsTer5)
c.6454_6455del (p.Leu2152AlafsTer5)
c.6514_6515del (p.Leu2172AlafsTer5)
 ClinVar dbSNP
17g.31337428delCA2499224191NF1c.6470del (p.Leu2157CysfsTer?)
c.1052del (p.Leu351CysfsTer?)
n.1366del
c.644del (p.Leu215CysfsTer?)
n.3133del
c.6518del (p.Leu2173CysfsTer?)
c.6488del (p.Leu2163CysfsTer?)
c.6425del (p.Leu2142CysfsTer?)
c.5423del (p.Leu1808CysfsTer?)
c.6624del (n.6624del)
c.6479del (p.Leu2160CysfsTer?)
c.6455del (p.Leu2152CysfsTer?)
c.6515del (p.Leu2172CysfsTer?)
 ClinVar dbSNP
17g.31337428T>ACA399013120NF1c.6470T>A (p.Leu2157Ter)
c.1052T>A (p.Leu351Ter)
n.1366T>A
c.644T>A (p.Leu215Ter)
n.3133T>A
c.6518T>A (p.Leu2173Ter)
c.6488T>A (p.Leu2163Ter)
c.6425T>A (p.Leu2142Ter)
c.5423T>A (p.Leu1808Ter)
c.6624T>A (n.6624T>A)
c.6479T>A (p.Leu2160Ter)
c.6455T>A (p.Leu2152Ter)
c.6515T>A (p.Leu2172Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31337428T>CCA399013121NF1c.6470T>C (p.Leu2157Ser)
c.1052T>C (p.Leu351Ser)
n.1366T>C
c.644T>C (p.Leu215Ser)
n.3133T>C
c.6518T>C (p.Leu2173Ser)
c.6488T>C (p.Leu2163Ser)
c.6425T>C (p.Leu2142Ser)
c.5423T>C (p.Leu1808Ser)
c.6624T>C (n.6624T>C)
c.6479T>C (p.Leu2160Ser)
c.6455T>C (p.Leu2152Ser)
c.6515T>C (p.Leu2172Ser)
 ClinVar dbSNP gnomAD v4
17g.31337428T>GCA399013122NF1c.6470T>G (p.Leu2157Trp)
c.1052T>G (p.Leu351Trp)
n.1366T>G
c.644T>G (p.Leu215Trp)
n.3133T>G
c.6518T>G (p.Leu2173Trp)
c.6488T>G (p.Leu2163Trp)
c.6425T>G (p.Leu2142Trp)
c.5423T>G (p.Leu1808Trp)
c.6624T>G (n.6624T>G)
c.6479T>G (p.Leu2160Trp)
c.6455T>G (p.Leu2152Trp)
c.6515T>G (p.Leu2172Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31337428T=CA2255601974NF1c.6470T= (p.Leu2157=)
c.1052T= (p.Leu351=)
n.1366T=
c.644T= (p.Leu215=)
n.3133T=
c.6518T= (p.Leu2173=)
c.6488T= (p.Leu2163=)
c.6425T= (p.Leu2142=)
c.5423T= (p.Leu1808=)
c.6624T= (n.6624T=)
c.6479T= (p.Leu2160=)
c.6455T= (p.Leu2152=)
c.6515T= (p.Leu2172=)
17g.31337429G>ACA499234046NF1c.6471G>A (p.Leu2157=)
c.1053G>A (p.Leu351=)
n.1367G>A
c.645G>A (p.Leu215=)
n.3134G>A
c.6519G>A (p.Leu2173=)
c.6489G>A (p.Leu2163=)
c.6426G>A (p.Leu2142=)
c.5424G>A (p.Leu1808=)
c.6625G>A (n.6625G>A)
c.6480G>A (p.Leu2160=)
c.6456G>A (p.Leu2152=)
c.6516G>A (p.Leu2172=)
 dbSNP
17g.31337429G>CCA399013123NF1c.6471G>C (p.Leu2157Phe)
c.1053G>C (p.Leu351Phe)
n.1367G>C
c.645G>C (p.Leu215Phe)
n.3134G>C
c.6519G>C (p.Leu2173Phe)
c.6489G>C (p.Leu2163Phe)
c.6426G>C (p.Leu2142Phe)
c.5424G>C (p.Leu1808Phe)
c.6625G>C (n.6625G>C)
c.6480G>C (p.Leu2160Phe)
c.6456G>C (p.Leu2152Phe)
c.6516G>C (p.Leu2172Phe)
 ClinVar dbSNP
17g.31337429G>TCA399013124NF1c.6471G>T (p.Leu2157Phe)
c.1053G>T (p.Leu351Phe)
n.1367G>T
c.645G>T (p.Leu215Phe)
n.3134G>T
c.6519G>T (p.Leu2173Phe)
c.6489G>T (p.Leu2163Phe)
c.6426G>T (p.Leu2142Phe)
c.5424G>T (p.Leu1808Phe)
c.6625G>T (n.6625G>T)
c.6480G>T (p.Leu2160Phe)
c.6456G>T (p.Leu2152Phe)
c.6516G>T (p.Leu2172Phe)
 dbSNP
17g.31337430C>ACA251446NF1c.6472C>A (p.Leu2158Met)
c.1054C>A (p.Leu352Met)
n.1368C>A
c.646C>A (p.Leu216Met)
n.3135C>A
c.6520C>A (p.Leu2174Met)
c.6490C>A (p.Leu2164Met)
c.6427C>A (p.Leu2143Met)
c.5425C>A (p.Leu1809Met)
c.6626C>A (n.6626C>A)
c.6481C>A (p.Leu2161Met)
c.6457C>A (p.Leu2153Met)
c.6517C>A (p.Leu2173Met)
 ClinVar dbSNP
17g.31337430C=CA2255601987NF1c.6472C= (p.Leu2158=)
c.1054C= (p.Leu352=)
n.1368C=
c.646C= (p.Leu216=)
n.3135C=
c.6520C= (p.Leu2174=)
c.6490C= (p.Leu2164=)
c.6427C= (p.Leu2143=)
c.5425C= (p.Leu1809=)
c.6626C= (n.6626C=)
c.6481C= (p.Leu2161=)
c.6457C= (p.Leu2153=)
c.6517C= (p.Leu2173=)
17g.31337430C>GCA399013125NF1c.6472C>G (p.Leu2158Val)
c.1054C>G (p.Leu352Val)
n.1368C>G
c.646C>G (p.Leu216Val)
n.3135C>G
c.6520C>G (p.Leu2174Val)
c.6490C>G (p.Leu2164Val)
c.6427C>G (p.Leu2143Val)
c.5425C>G (p.Leu1809Val)
c.6626C>G (n.6626C>G)
c.6481C>G (p.Leu2161Val)
c.6457C>G (p.Leu2153Val)
c.6517C>G (p.Leu2173Val)
 dbSNP
17g.31337430C>TCA499234047NF1c.6472C>T (p.Leu2158=)
c.1054C>T (p.Leu352=)
n.1368C>T
c.646C>T (p.Leu216=)
n.3135C>T
c.6520C>T (p.Leu2174=)
c.6490C>T (p.Leu2164=)
c.6427C>T (p.Leu2143=)
c.5425C>T (p.Leu1809=)
c.6626C>T (n.6626C>T)
c.6481C>T (p.Leu2161=)
c.6457C>T (p.Leu2153=)
c.6517C>T (p.Leu2173=)
 dbSNP
17g.31337431delCA2695225128NF1c.6473del (p.Leu2158ArgfsTer?)
c.1055del (p.Leu352ArgfsTer?)
n.1369del
c.647del (p.Leu216ArgfsTer?)
n.3136del
c.6521del (p.Leu2174ArgfsTer?)
c.6491del (p.Leu2164ArgfsTer?)
c.6428del (p.Leu2143ArgfsTer?)
c.5426del (p.Leu1809ArgfsTer?)
c.6627del (n.6627del)
c.6482del (p.Leu2161ArgfsTer?)
c.6458del (p.Leu2153ArgfsTer?)
c.6518del (p.Leu2173ArgfsTer?)
17g.31337431T>ACA399013126NF1c.6473T>A (p.Leu2158Gln)
c.1055T>A (p.Leu352Gln)
n.1369T>A
c.647T>A (p.Leu216Gln)
n.3136T>A
c.6521T>A (p.Leu2174Gln)
c.6491T>A (p.Leu2164Gln)
c.6428T>A (p.Leu2143Gln)
c.5426T>A (p.Leu1809Gln)
c.6627T>A (n.6627T>A)
c.6482T>A (p.Leu2161Gln)
c.6458T>A (p.Leu2153Gln)
c.6518T>A (p.Leu2173Gln)
17g.31337431T>CCA399013127NF1c.6473T>C (p.Leu2158Pro)
c.1055T>C (p.Leu352Pro)
n.1369T>C
c.647T>C (p.Leu216Pro)
n.3136T>C
c.6521T>C (p.Leu2174Pro)
c.6491T>C (p.Leu2164Pro)
c.6428T>C (p.Leu2143Pro)
c.5426T>C (p.Leu1809Pro)
c.6627T>C (n.6627T>C)
c.6482T>C (p.Leu2161Pro)
c.6458T>C (p.Leu2153Pro)
c.6518T>C (p.Leu2173Pro)
 dbSNP
17g.31337431T>GCA399013128NF1c.6473T>G (p.Leu2158Arg)
c.1055T>G (p.Leu352Arg)
n.1369T>G
c.647T>G (p.Leu216Arg)
n.3136T>G
c.6521T>G (p.Leu2174Arg)
c.6491T>G (p.Leu2164Arg)
c.6428T>G (p.Leu2143Arg)
c.5426T>G (p.Leu1809Arg)
c.6627T>G (n.6627T>G)
c.6482T>G (p.Leu2161Arg)
c.6458T>G (p.Leu2153Arg)
c.6518T>G (p.Leu2173Arg)
17g.31337432G>ACA499234048NF1c.6474G>A (p.Leu2158=)
c.1056G>A (p.Leu352=)
n.1370G>A
c.648G>A (p.Leu216=)
n.3137G>A
c.6522G>A (p.Leu2174=)
c.6492G>A (p.Leu2164=)
c.6429G>A (p.Leu2143=)
c.5427G>A (p.Leu1809=)
c.6628G>A (n.6628G>A)
c.6483G>A (p.Leu2161=)
c.6459G>A (p.Leu2153=)
c.6519G>A (p.Leu2173=)
17g.31337432G>CCA499234049NF1c.6474G>C (p.Leu2158=)
c.1056G>C (p.Leu352=)
n.1370G>C
c.648G>C (p.Leu216=)
n.3137G>C
c.6522G>C (p.Leu2174=)
c.6492G>C (p.Leu2164=)
c.6429G>C (p.Leu2143=)
c.5427G>C (p.Leu1809=)
c.6628G>C (n.6628G>C)
c.6483G>C (p.Leu2161=)
c.6459G>C (p.Leu2153=)
c.6519G>C (p.Leu2173=)
17g.31337432G>TCA499234050NF1c.6474G>T (p.Leu2158=)
c.1056G>T (p.Leu352=)
n.1370G>T
c.648G>T (p.Leu216=)
n.3137G>T
c.6522G>T (p.Leu2174=)
c.6492G>T (p.Leu2164=)
c.6429G>T (p.Leu2143=)
c.5427G>T (p.Leu1809=)
c.6628G>T (n.6628G>T)
c.6483G>T (p.Leu2161=)
c.6459G>T (p.Leu2153=)
c.6519G>T (p.Leu2173=)
17g.31337432dupCA2573153838NF1c.6474dup (p.Phe2159ValfsTer4)
c.1056dup (p.Phe353ValfsTer4)
n.1370dup
c.648dup (p.Phe217ValfsTer4)
n.3137dup
c.6522dup (p.Phe2175ValfsTer4)
c.6492dup (p.Phe2165ValfsTer4)
c.6429dup (p.Phe2144ValfsTer4)
c.5427dup (p.Phe1810ValfsTer4)
c.6628dup (n.6628dup)
c.6483dup (p.Phe2162ValfsTer4)
c.6459dup (p.Phe2154ValfsTer4)
c.6519dup (p.Phe2174ValfsTer4)
 ClinVar dbSNP
17g.31337433T>ACA399013129NF1c.6475T>A (p.Phe2159Ile)
c.1057T>A (p.Phe353Ile)
n.1371T>A
c.649T>A (p.Phe217Ile)
n.3138T>A
c.6523T>A (p.Phe2175Ile)
c.6493T>A (p.Phe2165Ile)
c.6430T>A (p.Phe2144Ile)
c.5428T>A (p.Phe1810Ile)
c.6629T>A (n.6629T>A)
c.6484T>A (p.Phe2162Ile)
c.6460T>A (p.Phe2154Ile)
c.6520T>A (p.Phe2174Ile)
 dbSNP
17g.31337433T>CCA399013130NF1c.6475T>C (p.Phe2159Leu)
c.1057T>C (p.Phe353Leu)
n.1371T>C
c.649T>C (p.Phe217Leu)
n.3138T>C
c.6523T>C (p.Phe2175Leu)
c.6493T>C (p.Phe2165Leu)
c.6430T>C (p.Phe2144Leu)
c.5428T>C (p.Phe1810Leu)
c.6629T>C (n.6629T>C)
c.6484T>C (p.Phe2162Leu)
c.6460T>C (p.Phe2154Leu)
c.6520T>C (p.Phe2174Leu)
 dbSNP
17g.31337433T>GCA399013131NF1c.6475T>G (p.Phe2159Val)
c.1057T>G (p.Phe353Val)
n.1371T>G
c.649T>G (p.Phe217Val)
n.3138T>G
c.6523T>G (p.Phe2175Val)
c.6493T>G (p.Phe2165Val)
c.6430T>G (p.Phe2144Val)
c.5428T>G (p.Phe1810Val)
c.6629T>G (n.6629T>G)
c.6484T>G (p.Phe2162Val)
c.6460T>G (p.Phe2154Val)
c.6520T>G (p.Phe2174Val)
 dbSNP
17g.31337435delCA2573153839NF1c.6477del (p.Phe2159LeufsTer?)
c.1059del (p.Phe353LeufsTer?)
n.1373del
c.651del (p.Phe217LeufsTer?)
n.3140del
c.6525del (p.Phe2175LeufsTer?)
c.6495del (p.Phe2165LeufsTer?)
c.6432del (p.Phe2144LeufsTer?)
c.5430del (p.Phe1810LeufsTer?)
c.6631del (n.6631del)
c.6486del (p.Phe2162LeufsTer?)
c.6462del (p.Phe2154LeufsTer?)
c.6522del (p.Phe2174LeufsTer?)
 ClinVar dbSNP
17g.31337434T>ACA399013133NF1c.6476T>A (p.Phe2159Tyr)
c.1058T>A (p.Phe353Tyr)
n.1372T>A
c.650T>A (p.Phe217Tyr)
n.3139T>A
c.6524T>A (p.Phe2175Tyr)
c.6494T>A (p.Phe2165Tyr)
c.6431T>A (p.Phe2144Tyr)
c.5429T>A (p.Phe1810Tyr)
c.6630T>A (n.6630T>A)
c.6485T>A (p.Phe2162Tyr)
c.6461T>A (p.Phe2154Tyr)
c.6521T>A (p.Phe2174Tyr)
 dbSNP
17g.31337434T>CCA399013134NF1c.6476T>C (p.Phe2159Ser)
c.1058T>C (p.Phe353Ser)
n.1372T>C
c.650T>C (p.Phe217Ser)
n.3139T>C
c.6524T>C (p.Phe2175Ser)
c.6494T>C (p.Phe2165Ser)
c.6431T>C (p.Phe2144Ser)
c.5429T>C (p.Phe1810Ser)
c.6630T>C (n.6630T>C)
c.6485T>C (p.Phe2162Ser)
c.6461T>C (p.Phe2154Ser)
c.6521T>C (p.Phe2174Ser)
17g.31337434T>GCA399013132NF1c.6476T>G (p.Phe2159Cys)
c.1058T>G (p.Phe353Cys)
n.1372T>G
c.650T>G (p.Phe217Cys)
n.3139T>G
c.6524T>G (p.Phe2175Cys)
c.6494T>G (p.Phe2165Cys)
c.6431T>G (p.Phe2144Cys)
c.5429T>G (p.Phe1810Cys)
c.6630T>G (n.6630T>G)
c.6485T>G (p.Phe2162Cys)
c.6461T>G (p.Phe2154Cys)
c.6521T>G (p.Phe2174Cys)
17g.31337435T>ACA399013136NF1c.6477T>A (p.Phe2159Leu)
c.1059T>A (p.Phe353Leu)
n.1373T>A
c.651T>A (p.Phe217Leu)
n.3140T>A
c.6525T>A (p.Phe2175Leu)
c.6495T>A (p.Phe2165Leu)
c.6432T>A (p.Phe2144Leu)
c.5430T>A (p.Phe1810Leu)
c.6631T>A (n.6631T>A)
c.6486T>A (p.Phe2162Leu)
c.6462T>A (p.Phe2154Leu)
c.6522T>A (p.Phe2174Leu)
 dbSNP
17g.31337435T>CCA499234051NF1c.6477T>C (p.Phe2159=)
c.1059T>C (p.Phe353=)
n.1373T>C
c.651T>C (p.Phe217=)
n.3140T>C
c.6525T>C (p.Phe2175=)
c.6495T>C (p.Phe2165=)
c.6432T>C (p.Phe2144=)
c.5430T>C (p.Phe1810=)
c.6631T>C (n.6631T>C)
c.6486T>C (p.Phe2162=)
c.6462T>C (p.Phe2154=)
c.6522T>C (p.Phe2174=)
 ClinVar
17g.31337435T>GCA399013135NF1c.6477T>G (p.Phe2159Leu)
c.1059T>G (p.Phe353Leu)
n.1373T>G
c.651T>G (p.Phe217Leu)
n.3140T>G
c.6525T>G (p.Phe2175Leu)
c.6495T>G (p.Phe2165Leu)
c.6432T>G (p.Phe2144Leu)
c.5430T>G (p.Phe1810Leu)
c.6631T>G (n.6631T>G)
c.6486T>G (p.Phe2162Leu)
c.6462T>G (p.Phe2154Leu)
c.6522T>G (p.Phe2174Leu)
17g.31337436G>ACA399013137NF1c.6478G>A (p.Gly2160Ser)
c.1060G>A (p.Gly354Ser)
n.1374G>A
c.652G>A (p.Gly218Ser)
n.3141G>A
c.6526G>A (p.Gly2176Ser)
c.6496G>A (p.Gly2166Ser)
c.6433G>A (p.Gly2145Ser)
c.5431G>A (p.Gly1811Ser)
c.6632G>A (n.6632G>A)
c.6487G>A (p.Gly2163Ser)
c.6463G>A (p.Gly2155Ser)
c.6523G>A (p.Gly2175Ser)
 dbSNP
17g.31337436G>CCA399013138NF1c.6478G>C (p.Gly2160Arg)
c.1060G>C (p.Gly354Arg)
n.1374G>C
c.652G>C (p.Gly218Arg)
n.3141G>C
c.6526G>C (p.Gly2176Arg)
c.6496G>C (p.Gly2166Arg)
c.6433G>C (p.Gly2145Arg)
c.5431G>C (p.Gly1811Arg)
c.6632G>C (n.6632G>C)
c.6487G>C (p.Gly2163Arg)
c.6463G>C (p.Gly2155Arg)
c.6523G>C (p.Gly2175Arg)
 dbSNP
17g.31337436G>TCA399013139NF1c.6478G>T (p.Gly2160Cys)
c.1060G>T (p.Gly354Cys)
n.1374G>T
c.652G>T (p.Gly218Cys)
n.3141G>T
c.6526G>T (p.Gly2176Cys)
c.6496G>T (p.Gly2166Cys)
c.6433G>T (p.Gly2145Cys)
c.5431G>T (p.Gly1811Cys)
c.6632G>T (n.6632G>T)
c.6487G>T (p.Gly2163Cys)
c.6463G>T (p.Gly2155Cys)
c.6523G>T (p.Gly2175Cys)
 dbSNP
17g.31337437G>ACA399013140NF1c.6479G>A (p.Gly2160Asp)
c.1061G>A (p.Gly354Asp)
n.1375G>A
c.653G>A (p.Gly218Asp)
n.3142G>A
c.6527G>A (p.Gly2176Asp)
c.6497G>A (p.Gly2166Asp)
c.6434G>A (p.Gly2145Asp)
c.5432G>A (p.Gly1811Asp)
c.6633G>A (n.6633G>A)
c.6488G>A (p.Gly2163Asp)
c.6464G>A (p.Gly2155Asp)
c.6524G>A (p.Gly2175Asp)
 dbSNP COSMIC COSMIC
17g.31337437G>CCA399013141NF1c.6479G>C (p.Gly2160Ala)
c.1061G>C (p.Gly354Ala)
n.1375G>C
c.653G>C (p.Gly218Ala)
n.3142G>C
c.6527G>C (p.Gly2176Ala)
c.6497G>C (p.Gly2166Ala)
c.6434G>C (p.Gly2145Ala)
c.5432G>C (p.Gly1811Ala)
c.6633G>C (n.6633G>C)
c.6488G>C (p.Gly2163Ala)
c.6464G>C (p.Gly2155Ala)
c.6524G>C (p.Gly2175Ala)
 dbSNP
17g.31337437G>TCA399013142NF1c.6479G>T (p.Gly2160Val)
c.1061G>T (p.Gly354Val)
n.1375G>T
c.653G>T (p.Gly218Val)
n.3142G>T
c.6527G>T (p.Gly2176Val)
c.6497G>T (p.Gly2166Val)
c.6434G>T (p.Gly2145Val)
c.5432G>T (p.Gly1811Val)
c.6633G>T (n.6633G>T)
c.6488G>T (p.Gly2163Val)
c.6464G>T (p.Gly2155Val)
c.6524G>T (p.Gly2175Val)
 ClinVar dbSNP
17g.31337438C>ACA499234052NF1c.6480C>A (p.Gly2160=)
c.1062C>A (p.Gly354=)
n.1376C>A
c.654C>A (p.Gly218=)
n.3143C>A
c.6528C>A (p.Gly2176=)
c.6498C>A (p.Gly2166=)
c.6435C>A (p.Gly2145=)
c.5433C>A (p.Gly1811=)
c.6634C>A (n.6634C>A)
c.6489C>A (p.Gly2163=)
c.6465C>A (p.Gly2155=)
c.6525C>A (p.Gly2175=)
 dbSNP
17g.31337438C>GCA499234053NF1c.6480C>G (p.Gly2160=)
c.1062C>G (p.Gly354=)
n.1376C>G
c.654C>G (p.Gly218=)
n.3143C>G
c.6528C>G (p.Gly2176=)
c.6498C>G (p.Gly2166=)
c.6435C>G (p.Gly2145=)
c.5433C>G (p.Gly1811=)
c.6634C>G (n.6634C>G)
c.6489C>G (p.Gly2163=)
c.6465C>G (p.Gly2155=)
c.6525C>G (p.Gly2175=)
 dbSNP
17g.31337438C>TCA499234054NF1c.6480C>T (p.Gly2160=)
c.1062C>T (p.Gly354=)
n.1376C>T
c.654C>T (p.Gly218=)
n.3143C>T
c.6528C>T (p.Gly2176=)
c.6498C>T (p.Gly2166=)
c.6435C>T (p.Gly2145=)
c.5433C>T (p.Gly1811=)
c.6634C>T (n.6634C>T)
c.6489C>T (p.Gly2163=)
c.6465C>T (p.Gly2155=)
c.6525C>T (p.Gly2175=)
 dbSNP gnomAD v4
17g.31337439A=CA2255601991NF1c.6481A= (p.Ile2161=)
c.1063A= (p.Ile355=)
n.1377A=
c.655A= (p.Ile219=)
n.3144A=
c.6529A= (p.Ile2177=)
c.6499A= (p.Ile2167=)
c.6436A= (p.Ile2146=)
c.5434A= (p.Ile1812=)
c.6635A= (n.6635A=)
c.6490A= (p.Ile2164=)
c.6466A= (p.Ile2156=)
c.6526A= (p.Ile2176=)
17g.31337439A>CCA399013143NF1c.6481A>C (p.Ile2161Leu)
c.1063A>C (p.Ile355Leu)
n.1377A>C
c.655A>C (p.Ile219Leu)
n.3144A>C
c.6529A>C (p.Ile2177Leu)
c.6499A>C (p.Ile2167Leu)
c.6436A>C (p.Ile2146Leu)
c.5434A>C (p.Ile1812Leu)
c.6635A>C (n.6635A>C)
c.6490A>C (p.Ile2164Leu)
c.6466A>C (p.Ile2156Leu)
c.6526A>C (p.Ile2176Leu)
 ClinVar dbSNP gnomAD v4
17g.31337439A>GCA399013145NF1c.6481A>G (p.Ile2161Val)
c.1063A>G (p.Ile355Val)
n.1377A>G
c.655A>G (p.Ile219Val)
n.3144A>G
c.6529A>G (p.Ile2177Val)
c.6499A>G (p.Ile2167Val)
c.6436A>G (p.Ile2146Val)
c.5434A>G (p.Ile1812Val)
c.6635A>G (n.6635A>G)
c.6490A>G (p.Ile2164Val)
c.6466A>G (p.Ile2156Val)
c.6526A>G (p.Ile2176Val)
17g.31337439A>TCA399013144NF1c.6481A>T (p.Ile2161Phe)
c.1063A>T (p.Ile355Phe)
n.1377A>T
c.655A>T (p.Ile219Phe)
n.3144A>T
c.6529A>T (p.Ile2177Phe)
c.6499A>T (p.Ile2167Phe)
c.6436A>T (p.Ile2146Phe)
c.5434A>T (p.Ile1812Phe)
c.6635A>T (n.6635A>T)
c.6490A>T (p.Ile2164Phe)
c.6466A>T (p.Ile2156Phe)
c.6526A>T (p.Ile2176Phe)
 ClinVar
17g.31337439_31337442delinsTGCA2580093380NF1c.6481_6484delinsTG (p.Ile2161TrpfsTer26)
c.1063_1066delinsTG (p.Ile355TrpfsTer26)
n.1377_1380delinsTG
c.655_658delinsTG (p.Ile219TrpfsTer26)
n.3144_3147delinsTG
c.6529_6532delinsTG (p.Ile2177TrpfsTer26)
c.6499_6502delinsTG (p.Ile2167TrpfsTer26)
c.6436_6439delinsTG (p.Ile2146TrpfsTer26)
c.5434_5437delinsTG (p.Ile1812TrpfsTer26)
c.6635_6638delinsTG (n.6635_6638delinsTG)
c.6490_6493delinsTG (p.Ile2164TrpfsTer26)
c.6466_6469delinsTG (p.Ile2156TrpfsTer26)
c.6526_6529delinsTG (p.Ile2176TrpfsTer26)
 ClinVar
17g.31337440T>ACA399013146NF1c.6482T>A (p.Ile2161Asn)
c.1064T>A (p.Ile355Asn)
n.1378T>A
c.656T>A (p.Ile219Asn)
n.3145T>A
c.6530T>A (p.Ile2177Asn)
c.6500T>A (p.Ile2167Asn)
c.6437T>A (p.Ile2146Asn)
c.5435T>A (p.Ile1812Asn)
c.6636T>A (n.6636T>A)
c.6491T>A (p.Ile2164Asn)
c.6467T>A (p.Ile2156Asn)
c.6527T>A (p.Ile2176Asn)
 dbSNP
17g.31337440T>CCA399013147NF1c.6482T>C (p.Ile2161Thr)
c.1064T>C (p.Ile355Thr)
n.1378T>C
c.656T>C (p.Ile219Thr)
n.3145T>C
c.6530T>C (p.Ile2177Thr)
c.6500T>C (p.Ile2167Thr)
c.6437T>C (p.Ile2146Thr)
c.5435T>C (p.Ile1812Thr)
c.6636T>C (n.6636T>C)
c.6491T>C (p.Ile2164Thr)
c.6467T>C (p.Ile2156Thr)
c.6527T>C (p.Ile2176Thr)
17g.31337440T>GCA399013148NF1c.6482T>G (p.Ile2161Ser)
c.1064T>G (p.Ile355Ser)
n.1378T>G
c.656T>G (p.Ile219Ser)
n.3145T>G
c.6530T>G (p.Ile2177Ser)
c.6500T>G (p.Ile2167Ser)
c.6437T>G (p.Ile2146Ser)
c.5435T>G (p.Ile1812Ser)
c.6636T>G (n.6636T>G)
c.6491T>G (p.Ile2164Ser)
c.6467T>G (p.Ile2156Ser)
c.6527T>G (p.Ile2176Ser)
17g.31337441T>ACA499234055NF1c.6483T>A (p.Ile2161=)
c.1065T>A (p.Ile355=)
n.1379T>A
c.657T>A (p.Ile219=)
n.3146T>A
c.6531T>A (p.Ile2177=)
c.6501T>A (p.Ile2167=)
c.6438T>A (p.Ile2146=)
c.5436T>A (p.Ile1812=)
c.6637T>A (n.6637T>A)
c.6492T>A (p.Ile2164=)
c.6468T>A (p.Ile2156=)
c.6528T>A (p.Ile2176=)
 dbSNP
17g.31337441T>CCA499234056NF1c.6483T>C (p.Ile2161=)
c.1065T>C (p.Ile355=)
n.1379T>C
c.657T>C (p.Ile219=)
n.3146T>C
c.6531T>C (p.Ile2177=)
c.6501T>C (p.Ile2167=)
c.6438T>C (p.Ile2146=)
c.5436T>C (p.Ile1812=)
c.6637T>C (n.6637T>C)
c.6492T>C (p.Ile2164=)
c.6468T>C (p.Ile2156=)
c.6528T>C (p.Ile2176=)
 dbSNP
17g.31337441T>GCA399013149NF1c.6483T>G (p.Ile2161Met)
c.1065T>G (p.Ile355Met)
n.1379T>G
c.657T>G (p.Ile219Met)
n.3146T>G
c.6531T>G (p.Ile2177Met)
c.6501T>G (p.Ile2167Met)
c.6438T>G (p.Ile2146Met)
c.5436T>G (p.Ile1812Met)
c.6637T>G (n.6637T>G)
c.6492T>G (p.Ile2164Met)
c.6468T>G (p.Ile2156Met)
c.6528T>G (p.Ile2176Met)
 dbSNP
17g.31337442A>CCA399013150NF1c.6484A>C (p.Ser2162Arg)
c.1066A>C (p.Ser356Arg)
n.1380A>C
c.658A>C (p.Ser220Arg)
n.3147A>C
c.6532A>C (p.Ser2178Arg)
c.6502A>C (p.Ser2168Arg)
c.6439A>C (p.Ser2147Arg)
c.5437A>C (p.Ser1813Arg)
c.6638A>C (n.6638A>C)
c.6493A>C (p.Ser2165Arg)
c.6469A>C (p.Ser2157Arg)
c.6529A>C (p.Ser2177Arg)
17g.31337442A>GCA399013152NF1c.6484A>G (p.Ser2162Gly)
c.1066A>G (p.Ser356Gly)
n.1380A>G
c.658A>G (p.Ser220Gly)
n.3147A>G
c.6532A>G (p.Ser2178Gly)
c.6502A>G (p.Ser2168Gly)
c.6439A>G (p.Ser2147Gly)
c.5437A>G (p.Ser1813Gly)
c.6638A>G (n.6638A>G)
c.6493A>G (p.Ser2165Gly)
c.6469A>G (p.Ser2157Gly)
c.6529A>G (p.Ser2177Gly)
 dbSNP
17g.31337442A>TCA399013151NF1c.6484A>T (p.Ser2162Cys)
c.1066A>T (p.Ser356Cys)
n.1380A>T
c.658A>T (p.Ser220Cys)
n.3147A>T
c.6532A>T (p.Ser2178Cys)
c.6502A>T (p.Ser2168Cys)
c.6439A>T (p.Ser2147Cys)
c.5437A>T (p.Ser1813Cys)
c.6638A>T (n.6638A>T)
c.6493A>T (p.Ser2165Cys)
c.6469A>T (p.Ser2157Cys)
c.6529A>T (p.Ser2177Cys)
 dbSNP
17g.31337442_31337443delinsAGCA2255601995NF1c.6484_6485delinsAG (p.Ser2162=)
c.1066_1067delinsAG (p.Ser356=)
n.1380_1381delinsAG
c.658_659delinsAG (p.Ser220=)
n.3147_3148delinsAG
c.6532_6533delinsAG (p.Ser2178=)
c.6502_6503delinsAG (p.Ser2168=)
c.6439_6440delinsAG (p.Ser2147=)
c.5437_5438delinsAG (p.Ser1813=)
c.6638_6639delinsAG (n.6638_6639delinsAG)
c.6493_6494delinsAG (p.Ser2165=)
c.6469_6470delinsAG (p.Ser2157=)
c.6529_6530delinsAG (p.Ser2177=)
17g.31337443delCA915949938NF1c.6485del (p.Ser2162ThrfsTer?)
c.1067del (p.Ser356ThrfsTer?)
n.1381del
c.659del (p.Ser220ThrfsTer?)
n.3148del
c.6533del (p.Ser2178ThrfsTer?)
c.6503del (p.Ser2168ThrfsTer?)
c.6440del (p.Ser2147ThrfsTer?)
c.5438del (p.Ser1813ThrfsTer?)
c.6639del (n.6639del)
c.6494del (p.Ser2165ThrfsTer?)
c.6470del (p.Ser2157ThrfsTer?)
c.6530del (p.Ser2177ThrfsTer?)
 ClinVar dbSNP
17g.31337443G>ACA399013153NF1c.6485G>A (p.Ser2162Asn)
c.1067G>A (p.Ser356Asn)
n.1381G>A
c.659G>A (p.Ser220Asn)
n.3148G>A
c.6533G>A (p.Ser2178Asn)
c.6503G>A (p.Ser2168Asn)
c.6440G>A (p.Ser2147Asn)
c.5438G>A (p.Ser1813Asn)
c.6639G>A (n.6639G>A)
c.6494G>A (p.Ser2165Asn)
c.6470G>A (p.Ser2157Asn)
c.6530G>A (p.Ser2177Asn)
 dbSNP
17g.31337443G>CCA399013154NF1c.6485G>C (p.Ser2162Thr)
c.1067G>C (p.Ser356Thr)
n.1381G>C
c.659G>C (p.Ser220Thr)
n.3148G>C
c.6533G>C (p.Ser2178Thr)
c.6503G>C (p.Ser2168Thr)
c.6440G>C (p.Ser2147Thr)
c.5438G>C (p.Ser1813Thr)
c.6639G>C (n.6639G>C)
c.6494G>C (p.Ser2165Thr)
c.6470G>C (p.Ser2157Thr)
c.6530G>C (p.Ser2177Thr)
 dbSNP
17g.31337443G>TCA399013155NF1c.6485G>T (p.Ser2162Ile)
c.1067G>T (p.Ser356Ile)
n.1381G>T
c.659G>T (p.Ser220Ile)
n.3148G>T
c.6533G>T (p.Ser2178Ile)
c.6503G>T (p.Ser2168Ile)
c.6440G>T (p.Ser2147Ile)
c.5438G>T (p.Ser1813Ile)
c.6639G>T (n.6639G>T)
c.6494G>T (p.Ser2165Ile)
c.6470G>T (p.Ser2157Ile)
c.6530G>T (p.Ser2177Ile)
 dbSNP
17g.31337444C>ACA399013156NF1c.6486C>A (p.Ser2162Arg)
c.1068C>A (p.Ser356Arg)
n.1382C>A
c.660C>A (p.Ser220Arg)
n.3149C>A
c.6534C>A (p.Ser2178Arg)
c.6504C>A (p.Ser2168Arg)
c.6441C>A (p.Ser2147Arg)
c.5439C>A (p.Ser1813Arg)
c.6640C>A (n.6640C>A)
c.6495C>A (p.Ser2165Arg)
c.6471C>A (p.Ser2157Arg)
c.6531C>A (p.Ser2177Arg)
17g.31337444C>GCA399013157NF1c.6486C>G (p.Ser2162Arg)
c.1068C>G (p.Ser356Arg)
n.1382C>G
c.660C>G (p.Ser220Arg)
n.3149C>G
c.6534C>G (p.Ser2178Arg)
c.6504C>G (p.Ser2168Arg)
c.6441C>G (p.Ser2147Arg)
c.5439C>G (p.Ser1813Arg)
c.6640C>G (n.6640C>G)
c.6495C>G (p.Ser2165Arg)
c.6471C>G (p.Ser2157Arg)
c.6531C>G (p.Ser2177Arg)
17g.31337444C>TCA499234057NF1c.6486C>T (p.Ser2162=)
c.1068C>T (p.Ser356=)
n.1382C>T
c.660C>T (p.Ser220=)
n.3149C>T
c.6534C>T (p.Ser2178=)
c.6504C>T (p.Ser2168=)
c.6441C>T (p.Ser2147=)
c.5439C>T (p.Ser1813=)
c.6640C>T (n.6640C>T)
c.6495C>T (p.Ser2165=)
c.6471C>T (p.Ser2157=)
c.6531C>T (p.Ser2177=)
17g.31337445A>CCA399013158NF1c.6487A>C (p.Lys2163Gln)
c.1069A>C (p.Lys357Gln)
n.1383A>C
c.661A>C (p.Lys221Gln)
n.3150A>C
c.6535A>C (p.Lys2179Gln)
c.6505A>C (p.Lys2169Gln)
c.6442A>C (p.Lys2148Gln)
c.5440A>C (p.Lys1814Gln)
c.6641A>C (n.6641A>C)
c.6496A>C (p.Lys2166Gln)
c.6472A>C (p.Lys2158Gln)
c.6532A>C (p.Lys2178Gln)
17g.31337445A>GCA399013159NF1c.6487A>G (p.Lys2163Glu)
c.1069A>G (p.Lys357Glu)
n.1383A>G
c.661A>G (p.Lys221Glu)
n.3150A>G
c.6535A>G (p.Lys2179Glu)
c.6505A>G (p.Lys2169Glu)
c.6442A>G (p.Lys2148Glu)
c.5440A>G (p.Lys1814Glu)
c.6641A>G (n.6641A>G)
c.6496A>G (p.Lys2166Glu)
c.6472A>G (p.Lys2158Glu)
c.6532A>G (p.Lys2178Glu)
17g.31337445A>TCA399013160NF1c.6487A>T (p.Lys2163Ter)
c.1069A>T (p.Lys357Ter)
n.1383A>T
c.661A>T (p.Lys221Ter)
n.3150A>T
c.6535A>T (p.Lys2179Ter)
c.6505A>T (p.Lys2169Ter)
c.6442A>T (p.Lys2148Ter)
c.5440A>T (p.Lys1814Ter)
c.6641A>T (n.6641A>T)
c.6496A>T (p.Lys2166Ter)
c.6472A>T (p.Lys2158Ter)
c.6532A>T (p.Lys2178Ter)
17g.31337447_31338975delCA1139665448NF1c.6489_6903+170del
c.1071_1485+170del
n.1385_2913del
c.663_1077+170del
n.3152_3566+170del
c.6537_6951+170del
c.6507_6921+170del
c.6444_6858+170del
c.5442_5856+170del
c.6643_7057+170del
c.6498_6912+170del
c.6474_6888+170del
c.6534_6948+170del
 ClinVar
17g.31337446A>CCA399013161NF1c.6488A>C (p.Lys2163Thr)
c.1070A>C (p.Lys357Thr)
n.1384A>C
c.662A>C (p.Lys221Thr)
n.3151A>C
c.6536A>C (p.Lys2179Thr)
c.6506A>C (p.Lys2169Thr)
c.6443A>C (p.Lys2148Thr)
c.5441A>C (p.Lys1814Thr)
c.6642A>C (n.6642A>C)
c.6497A>C (p.Lys2166Thr)
c.6473A>C (p.Lys2158Thr)
c.6533A>C (p.Lys2178Thr)
17g.31337446A>GCA399013162NF1c.6488A>G (p.Lys2163Arg)
c.1070A>G (p.Lys357Arg)
n.1384A>G
c.662A>G (p.Lys221Arg)
n.3151A>G
c.6536A>G (p.Lys2179Arg)
c.6506A>G (p.Lys2169Arg)
c.6443A>G (p.Lys2148Arg)
c.5441A>G (p.Lys1814Arg)
c.6642A>G (n.6642A>G)
c.6497A>G (p.Lys2166Arg)
c.6473A>G (p.Lys2158Arg)
c.6533A>G (p.Lys2178Arg)
17g.31337446A>TCA399013163NF1c.6488A>T (p.Lys2163Ile)
c.1070A>T (p.Lys357Ile)
n.1384A>T
c.662A>T (p.Lys221Ile)
n.3151A>T
c.6536A>T (p.Lys2179Ile)
c.6506A>T (p.Lys2169Ile)
c.6443A>T (p.Lys2148Ile)
c.5441A>T (p.Lys1814Ile)
c.6642A>T (n.6642A>T)
c.6497A>T (p.Lys2166Ile)
c.6473A>T (p.Lys2158Ile)
c.6533A>T (p.Lys2178Ile)
 dbSNP
17g.31337447A>CCA399013165NF1c.6489A>C (p.Lys2163Asn)
c.1071A>C (p.Lys357Asn)
n.1385A>C
c.663A>C (p.Lys221Asn)
n.3152A>C
c.6537A>C (p.Lys2179Asn)
c.6507A>C (p.Lys2169Asn)
c.6444A>C (p.Lys2148Asn)
c.5442A>C (p.Lys1814Asn)
c.6643A>C (n.6643A>C)
c.6498A>C (p.Lys2166Asn)
c.6474A>C (p.Lys2158Asn)
c.6534A>C (p.Lys2178Asn)
17g.31337447A>GCA499234058NF1c.6489A>G (p.Lys2163=)
c.1071A>G (p.Lys357=)
n.1385A>G
c.663A>G (p.Lys221=)
n.3152A>G
c.6537A>G (p.Lys2179=)
c.6507A>G (p.Lys2169=)
c.6444A>G (p.Lys2148=)
c.5442A>G (p.Lys1814=)
c.6643A>G (n.6643A>G)
c.6498A>G (p.Lys2166=)
c.6474A>G (p.Lys2158=)
c.6534A>G (p.Lys2178=)
17g.31337447A>TCA399013164NF1c.6489A>T (p.Lys2163Asn)
c.1071A>T (p.Lys357Asn)
n.1385A>T
c.663A>T (p.Lys221Asn)
n.3152A>T
c.6537A>T (p.Lys2179Asn)
c.6507A>T (p.Lys2169Asn)
c.6444A>T (p.Lys2148Asn)
c.5442A>T (p.Lys1814Asn)
c.6643A>T (n.6643A>T)
c.6498A>T (p.Lys2166Asn)
c.6474A>T (p.Lys2158Asn)
c.6534A>T (p.Lys2178Asn)
 dbSNP
17g.31337448G>ACA399013166NF1c.6490G>A (p.Val2164Ile)
c.1072G>A (p.Val358Ile)
n.1386G>A
c.664G>A (p.Val222Ile)
n.3153G>A
c.6538G>A (p.Val2180Ile)
c.6508G>A (p.Val2170Ile)
c.6445G>A (p.Val2149Ile)
c.5443G>A (p.Val1815Ile)
c.6644G>A (n.6644G>A)
c.6499G>A (p.Val2167Ile)
c.6475G>A (p.Val2159Ile)
c.6535G>A (p.Val2179Ile)
 ClinVar dbSNP
17g.31337448G>CCA399013167NF1c.6490G>C (p.Val2164Leu)
c.1072G>C (p.Val358Leu)
n.1386G>C
c.664G>C (p.Val222Leu)
n.3153G>C
c.6538G>C (p.Val2180Leu)
c.6508G>C (p.Val2170Leu)
c.6445G>C (p.Val2149Leu)
c.5443G>C (p.Val1815Leu)
c.6644G>C (n.6644G>C)
c.6499G>C (p.Val2167Leu)
c.6475G>C (p.Val2159Leu)
c.6535G>C (p.Val2179Leu)
 dbSNP COSMIC COSMIC
17g.31337448G=CA2255602006NF1c.6490G= (p.Val2164=)
c.1072G= (p.Val358=)
n.1386G=
c.664G= (p.Val222=)
n.3153G=
c.6538G= (p.Val2180=)
c.6508G= (p.Val2170=)
c.6445G= (p.Val2149=)
c.5443G= (p.Val1815=)
c.6644G= (n.6644G=)
c.6499G= (p.Val2167=)
c.6475G= (p.Val2159=)
c.6535G= (p.Val2179=)
17g.31337448G>TCA399013168NF1c.6490G>T (p.Val2164Phe)
c.1072G>T (p.Val358Phe)
n.1386G>T
c.664G>T (p.Val222Phe)
n.3153G>T
c.6538G>T (p.Val2180Phe)
c.6508G>T (p.Val2170Phe)
c.6445G>T (p.Val2149Phe)
c.5443G>T (p.Val1815Phe)
c.6644G>T (n.6644G>T)
c.6499G>T (p.Val2167Phe)
c.6475G>T (p.Val2159Phe)
c.6535G>T (p.Val2179Phe)
17g.31337449T>ACA399013169NF1c.6491T>A (p.Val2164Asp)
c.1073T>A (p.Val358Asp)
n.1387T>A
c.665T>A (p.Val222Asp)
n.3154T>A
c.6539T>A (p.Val2180Asp)
c.6509T>A (p.Val2170Asp)
c.6446T>A (p.Val2149Asp)
c.5444T>A (p.Val1815Asp)
c.6645T>A (n.6645T>A)
c.6500T>A (p.Val2167Asp)
c.6476T>A (p.Val2159Asp)
c.6536T>A (p.Val2179Asp)
 dbSNP
17g.31337449T>CCA399013170NF1c.6491T>C (p.Val2164Ala)
c.1073T>C (p.Val358Ala)
n.1387T>C
c.665T>C (p.Val222Ala)
n.3154T>C
c.6539T>C (p.Val2180Ala)
c.6509T>C (p.Val2170Ala)
c.6446T>C (p.Val2149Ala)
c.5444T>C (p.Val1815Ala)
c.6645T>C (n.6645T>C)
c.6500T>C (p.Val2167Ala)
c.6476T>C (p.Val2159Ala)
c.6536T>C (p.Val2179Ala)
 dbSNP
17g.31337449T>GCA399013171NF1c.6491T>G (p.Val2164Gly)
c.1073T>G (p.Val358Gly)
n.1387T>G
c.665T>G (p.Val222Gly)
n.3154T>G
c.6539T>G (p.Val2180Gly)
c.6509T>G (p.Val2170Gly)
c.6446T>G (p.Val2149Gly)
c.5444T>G (p.Val1815Gly)
c.6645T>G (n.6645T>G)
c.6500T>G (p.Val2167Gly)
c.6476T>G (p.Val2159Gly)
c.6536T>G (p.Val2179Gly)
17g.31337450C>ACA499234061NF1c.6492C>A (p.Val2164=)
c.1074C>A (p.Val358=)
n.1388C>A
c.666C>A (p.Val222=)
n.3155C>A
c.6540C>A (p.Val2180=)
c.6510C>A (p.Val2170=)
c.6447C>A (p.Val2149=)
c.5445C>A (p.Val1815=)
c.6646C>A (n.6646C>A)
c.6501C>A (p.Val2167=)
c.6477C>A (p.Val2159=)
c.6537C>A (p.Val2179=)
17g.31337450C>GCA499234060NF1c.6492C>G (p.Val2164=)
c.1074C>G (p.Val358=)
n.1388C>G
c.666C>G (p.Val222=)
n.3155C>G
c.6540C>G (p.Val2180=)
c.6510C>G (p.Val2170=)
c.6447C>G (p.Val2149=)
c.5445C>G (p.Val1815=)
c.6646C>G (n.6646C>G)
c.6501C>G (p.Val2167=)
c.6477C>G (p.Val2159=)
c.6537C>G (p.Val2179=)
17g.31337450C>TCA499234059NF1c.6492C>T (p.Val2164=)
c.1074C>T (p.Val358=)
n.1388C>T
c.666C>T (p.Val222=)
n.3155C>T
c.6540C>T (p.Val2180=)
c.6510C>T (p.Val2170=)
c.6447C>T (p.Val2149=)
c.5445C>T (p.Val1815=)
c.6646C>T (n.6646C>T)
c.6501C>T (p.Val2167=)
c.6477C>T (p.Val2159=)
c.6537C>T (p.Val2179=)
 ClinVar dbSNP

Number of alleles fetched