Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.31349634_31357324delCA277574NF1c.7303+383_7907del
c.1885+383_2489del
c.1477+383_2081del
n.3966+383_4570del
c.371+383_975del
c.7351+383_7955del
c.7321+383_7925del
c.7258+383_7862del
c.6256+383_6860del
c.704+383_1308del
c.7457+383_8061del
c.464+383_910del
c.7312+383_7916del
c.7288+383_7892del
c.7348+383_7952del
c.7351+383_7832del
 ClinVar
17g.31356473_31364024delinsCGCCACGGCCA658761034NF1c.7611_*12+1660delinsCGCCACGGC
c.2193_2942-3201delinsCGCCACGGC
c.1785_2533+3321delinsCGCCACGGC
c.679_1428-3201delinsCGCCACGGC
c.7659_8407+3321delinsCGCCACGGC
c.2193_2941+3321delinsCGCCACGGC
c.7629_8377+3321delinsCGCCACGGC
c.7566_8314+3321delinsCGCCACGGC
c.6564_7313-3201delinsCGCCACGGC
c.1012_1760+3321delinsCGCCACGGC
c.7765_8513+3321delinsCGCCACGGC
c.7629_8378-3201delinsCGCCACGGC
c.7566_8315-3201delinsCGCCACGGC
c.7659_8408-3201delinsCGCCACGGC
c.7620_8369-3201delinsCGCCACGGC
c.7596_8345-3201delinsCGCCACGGC
c.7659_*12+1660delinsCGCCACGGC
c.7656_8405-3201delinsCGCCACGGC
c.7646-487_8285-3201delinsCGCCACGGC
17g.31357245_31357250delinsGTTTACCA2255614984NF1c.7852-24_7852-19delinsGTTTAC (n.7852-24_7852-19delinsGTTTAC)
c.2434-24_2434-19delinsGTTTAC (n.2434-24_2434-19delinsGTTTAC)
c.2026-24_2026-19delinsGTTTAC (n.2026-24_2026-19delinsGTTTAC)
n.4515-24_4515-19delinsGTTTAC
c.920-24_920-19delinsGTTTAC
c.7900-24_7900-19delinsGTTTAC (n.7900-24_7900-19delinsGTTTAC)
c.7870-24_7870-19delinsGTTTAC (n.7870-24_7870-19delinsGTTTAC)
c.7807-24_7807-19delinsGTTTAC (n.7807-24_7807-19delinsGTTTAC)
c.6805-24_6805-19delinsGTTTAC (n.6805-24_6805-19delinsGTTTAC)
c.1253-24_1253-19delinsGTTTAC
n.1442_1447delinsGTTTAC
c.8006-24_8006-19delinsGTTTAC (n.8006-24_8006-19delinsGTTTAC)
c.855-24_855-19delinsGTTTAC
c.7861-24_7861-19delinsGTTTAC (n.7861-24_7861-19delinsGTTTAC)
c.7837-24_7837-19delinsGTTTAC (n.7837-24_7837-19delinsGTTTAC)
c.7897-24_7897-19delinsGTTTAC (n.7897-24_7897-19delinsGTTTAC)
c.7777-24_7777-19delinsGTTTAC (n.7777-24_7777-19delinsGTTTAC)
17g.31357245_31357250delinsTTTTAGCA915949907NF1c.7852-24_7852-19delinsTTTTAG (n.7852-24_7852-19delinsTTTTAG)
c.2434-24_2434-19delinsTTTTAG (n.2434-24_2434-19delinsTTTTAG)
c.2026-24_2026-19delinsTTTTAG (n.2026-24_2026-19delinsTTTTAG)
n.4515-24_4515-19delinsTTTTAG
c.920-24_920-19delinsTTTTAG
c.7900-24_7900-19delinsTTTTAG (n.7900-24_7900-19delinsTTTTAG)
c.7870-24_7870-19delinsTTTTAG (n.7870-24_7870-19delinsTTTTAG)
c.7807-24_7807-19delinsTTTTAG (n.7807-24_7807-19delinsTTTTAG)
c.6805-24_6805-19delinsTTTTAG (n.6805-24_6805-19delinsTTTTAG)
c.1253-24_1253-19delinsTTTTAG
n.1442_1447delinsTTTTAG
c.8006-24_8006-19delinsTTTTAG (n.8006-24_8006-19delinsTTTTAG)
c.855-24_855-19delinsTTTTAG
c.7861-24_7861-19delinsTTTTAG (n.7861-24_7861-19delinsTTTTAG)
c.7837-24_7837-19delinsTTTTAG (n.7837-24_7837-19delinsTTTTAG)
c.7897-24_7897-19delinsTTTTAG (n.7897-24_7897-19delinsTTTTAG)
c.7777-24_7777-19delinsTTTTAG (n.7777-24_7777-19delinsTTTTAG)
 ClinVar dbSNP
17g.31357250C=CA2255614996NF1c.7852-19C= (n.7852-19C=)
c.2434-19C= (n.2434-19C=)
c.2026-19C= (n.2026-19C=)
n.4515-19C=
c.920-19C=
c.7900-19C= (n.7900-19C=)
c.7870-19C= (n.7870-19C=)
c.7807-19C= (n.7807-19C=)
c.6805-19C= (n.6805-19C=)
c.1253-19C=
n.1447C=
c.8006-19C= (n.8006-19C=)
c.855-19C=
c.7861-19C= (n.7861-19C=)
c.7837-19C= (n.7837-19C=)
c.7897-19C= (n.7897-19C=)
c.7777-19C= (n.7777-19C=)
17g.31357250C>GCA2580093462NF1c.7852-19C>G (n.7852-19C>G)
c.2434-19C>G (n.2434-19C>G)
c.2026-19C>G (n.2026-19C>G)
n.4515-19C>G
c.920-19C>G
c.7900-19C>G (n.7900-19C>G)
c.7870-19C>G (n.7870-19C>G)
c.7807-19C>G (n.7807-19C>G)
c.6805-19C>G (n.6805-19C>G)
c.1253-19C>G
n.1447C>G
c.8006-19C>G (n.8006-19C>G)
c.855-19C>G
c.7861-19C>G (n.7861-19C>G)
c.7837-19C>G (n.7837-19C>G)
c.7897-19C>G (n.7897-19C>G)
c.7777-19C>G (n.7777-19C>G)
 ClinVar gnomAD v4
17g.31357250C>TCA8487686NF1c.7852-19C>T (n.7852-19C>T)
c.2434-19C>T (n.2434-19C>T)
c.2026-19C>T (n.2026-19C>T)
n.4515-19C>T
c.920-19C>T
c.7900-19C>T (n.7900-19C>T)
c.7870-19C>T (n.7870-19C>T)
c.7807-19C>T (n.7807-19C>T)
c.6805-19C>T (n.6805-19C>T)
c.1253-19C>T
n.1447C>T
c.8006-19C>T (n.8006-19C>T)
c.855-19C>T
c.7861-19C>T (n.7861-19C>T)
c.7837-19C>T (n.7837-19C>T)
c.7897-19C>T (n.7897-19C>T)
c.7777-19C>T (n.7777-19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357250_31357251delinsCTCA2255614993NF1c.7852-19_7852-18delinsCT (n.7852-19_7852-18delinsCT)
c.2434-19_2434-18delinsCT (n.2434-19_2434-18delinsCT)
c.2026-19_2026-18delinsCT (n.2026-19_2026-18delinsCT)
n.4515-19_4515-18delinsCT
c.920-19_920-18delinsCT
c.7900-19_7900-18delinsCT (n.7900-19_7900-18delinsCT)
c.7870-19_7870-18delinsCT (n.7870-19_7870-18delinsCT)
c.7807-19_7807-18delinsCT (n.7807-19_7807-18delinsCT)
c.6805-19_6805-18delinsCT (n.6805-19_6805-18delinsCT)
c.1253-19_1253-18delinsCT
n.1447_1448delinsCT
c.8006-19_8006-18delinsCT (n.8006-19_8006-18delinsCT)
c.855-19_855-18delinsCT
c.7861-19_7861-18delinsCT (n.7861-19_7861-18delinsCT)
c.7837-19_7837-18delinsCT (n.7837-19_7837-18delinsCT)
c.7897-19_7897-18delinsCT (n.7897-19_7897-18delinsCT)
c.7777-19_7777-18delinsCT (n.7777-19_7777-18delinsCT)
17g.31357251T>ACA289407951NF1c.7852-18T>A (n.7852-18T>A)
c.2434-18T>A (n.2434-18T>A)
c.2026-18T>A (n.2026-18T>A)
n.4515-18T>A
c.920-18T>A
c.7900-18T>A (n.7900-18T>A)
c.7870-18T>A (n.7870-18T>A)
c.7807-18T>A (n.7807-18T>A)
c.6805-18T>A (n.6805-18T>A)
c.1253-18T>A
n.1448T>A
c.8006-18T>A (n.8006-18T>A)
c.855-18T>A
c.7861-18T>A (n.7861-18T>A)
c.7837-18T>A (n.7837-18T>A)
c.7897-18T>A (n.7897-18T>A)
c.7777-18T>A (n.7777-18T>A)
 ClinVar dbSNP
17g.31357251T>CCA2637086165NF1c.7852-18T>C (n.7852-18T>C)
c.2434-18T>C (n.2434-18T>C)
c.2026-18T>C (n.2026-18T>C)
n.4515-18T>C
c.920-18T>C
c.7900-18T>C (n.7900-18T>C)
c.7870-18T>C (n.7870-18T>C)
c.7807-18T>C (n.7807-18T>C)
c.6805-18T>C (n.6805-18T>C)
c.1253-18T>C
n.1448T>C
c.8006-18T>C (n.8006-18T>C)
c.855-18T>C
c.7861-18T>C (n.7861-18T>C)
c.7837-18T>C (n.7837-18T>C)
c.7897-18T>C (n.7897-18T>C)
c.7777-18T>C (n.7777-18T>C)
 dbSNP gnomAD v4
17g.31357251T>GCA2739267293NF1c.7852-18T>G (n.7852-18T>G)
c.2434-18T>G (n.2434-18T>G)
c.2026-18T>G (n.2026-18T>G)
n.4515-18T>G
c.920-18T>G
c.7900-18T>G (n.7900-18T>G)
c.7870-18T>G (n.7870-18T>G)
c.7807-18T>G (n.7807-18T>G)
c.6805-18T>G (n.6805-18T>G)
c.1253-18T>G
n.1448T>G
c.8006-18T>G (n.8006-18T>G)
c.855-18T>G
c.7861-18T>G (n.7861-18T>G)
c.7837-18T>G (n.7837-18T>G)
c.7897-18T>G (n.7897-18T>G)
c.7777-18T>G (n.7777-18T>G)
 ClinVar
17g.31357251T=CA2255615007NF1c.7852-18T= (n.7852-18T=)
c.2434-18T= (n.2434-18T=)
c.2026-18T= (n.2026-18T=)
n.4515-18T=
c.920-18T=
c.7900-18T= (n.7900-18T=)
c.7870-18T= (n.7870-18T=)
c.7807-18T= (n.7807-18T=)
c.6805-18T= (n.6805-18T=)
c.1253-18T=
n.1448T=
c.8006-18T= (n.8006-18T=)
c.855-18T=
c.7861-18T= (n.7861-18T=)
c.7837-18T= (n.7837-18T=)
c.7897-18T= (n.7897-18T=)
c.7777-18T= (n.7777-18T=)
17g.31357256dupCA8487685NF1c.7852-13dup (n.7852-13dup)
c.2434-13dup (n.2434-13dup)
c.2026-13dup (n.2026-13dup)
n.4515-13dup
c.920-13dup
c.7900-13dup (n.7900-13dup)
c.7870-13dup (n.7870-13dup)
c.7807-13dup (n.7807-13dup)
c.6805-13dup (n.6805-13dup)
c.1253-13dup
n.1453dup
c.8006-13dup (n.8006-13dup)
c.855-13dup
c.7861-13dup (n.7861-13dup)
c.7837-13dup (n.7837-13dup)
c.7897-13dup (n.7897-13dup)
c.7777-13dup (n.7777-13dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357256delCA289407943NF1c.7852-13del (n.7852-13del)
c.2434-13del (n.2434-13del)
c.2026-13del (n.2026-13del)
n.4515-13del
c.920-13del
c.7900-13del (n.7900-13del)
c.7870-13del (n.7870-13del)
c.7807-13del (n.7807-13del)
c.6805-13del (n.6805-13del)
c.1253-13del
n.1453del
c.8006-13del (n.8006-13del)
c.855-13del
c.7861-13del (n.7861-13del)
c.7837-13del (n.7837-13del)
c.7897-13del (n.7897-13del)
c.7777-13del (n.7777-13del)
 ClinVar dbSNP gnomAD v4
17g.31357252T>CCA2580093463NF1c.7852-17T>C (n.7852-17T>C)
c.2434-17T>C (n.2434-17T>C)
c.2026-17T>C (n.2026-17T>C)
n.4515-17T>C
c.920-17T>C
c.7900-17T>C (n.7900-17T>C)
c.7870-17T>C (n.7870-17T>C)
c.7807-17T>C (n.7807-17T>C)
c.6805-17T>C (n.6805-17T>C)
c.1253-17T>C
n.1449T>C
c.8006-17T>C (n.8006-17T>C)
c.855-17T>C
c.7861-17T>C (n.7861-17T>C)
c.7837-17T>C (n.7837-17T>C)
c.7897-17T>C (n.7897-17T>C)
c.7777-17T>C (n.7777-17T>C)
 ClinVar dbSNP gnomAD v4
17g.31357254T>GCA2573153452NF1c.7852-15T>G (n.7852-15T>G)
c.2434-15T>G (n.2434-15T>G)
c.2026-15T>G (n.2026-15T>G)
n.4515-15T>G
c.920-15T>G
c.7900-15T>G (n.7900-15T>G)
c.7870-15T>G (n.7870-15T>G)
c.7807-15T>G (n.7807-15T>G)
c.6805-15T>G (n.6805-15T>G)
c.1253-15T>G
n.1451T>G
c.8006-15T>G (n.8006-15T>G)
c.855-15T>G
c.7861-15T>G (n.7861-15T>G)
c.7837-15T>G (n.7837-15T>G)
c.7897-15T>G (n.7897-15T>G)
c.7777-15T>G (n.7777-15T>G)
 ClinVar dbSNP gnomAD v4
17g.31357255T>ACA2580093464NF1c.7852-14T>A (n.7852-14T>A)
c.2434-14T>A (n.2434-14T>A)
c.2026-14T>A (n.2026-14T>A)
n.4515-14T>A
c.920-14T>A
c.7900-14T>A (n.7900-14T>A)
c.7870-14T>A (n.7870-14T>A)
c.7807-14T>A (n.7807-14T>A)
c.6805-14T>A (n.6805-14T>A)
c.1253-14T>A
n.1452T>A
c.8006-14T>A (n.8006-14T>A)
c.855-14T>A
c.7861-14T>A (n.7861-14T>A)
c.7837-14T>A (n.7837-14T>A)
c.7897-14T>A (n.7897-14T>A)
c.7777-14T>A (n.7777-14T>A)
 ClinVar
17g.31357255_31357257delinsTTGCA2255615011NF1c.7852-14_7852-12delinsTTG (n.7852-14_7852-12delinsTTG)
c.2434-14_2434-12delinsTTG (n.2434-14_2434-12delinsTTG)
c.2026-14_2026-12delinsTTG (n.2026-14_2026-12delinsTTG)
n.4515-14_4515-12delinsTTG
c.920-14_920-12delinsTTG
c.7900-14_7900-12delinsTTG (n.7900-14_7900-12delinsTTG)
c.7870-14_7870-12delinsTTG (n.7870-14_7870-12delinsTTG)
c.7807-14_7807-12delinsTTG (n.7807-14_7807-12delinsTTG)
c.6805-14_6805-12delinsTTG (n.6805-14_6805-12delinsTTG)
c.1253-14_1253-12delinsTTG
n.1452_1454delinsTTG
c.8006-14_8006-12delinsTTG (n.8006-14_8006-12delinsTTG)
c.855-14_855-12delinsTTG
c.7861-14_7861-12delinsTTG (n.7861-14_7861-12delinsTTG)
c.7837-14_7837-12delinsTTG (n.7837-14_7837-12delinsTTG)
c.7897-14_7897-12delinsTTG (n.7897-14_7897-12delinsTTG)
c.7777-14_7777-12delinsTTG (n.7777-14_7777-12delinsTTG)
17g.31357256T>ACA2733255073NF1c.7852-13T>A (n.7852-13T>A)
c.2434-13T>A (n.2434-13T>A)
c.2026-13T>A (n.2026-13T>A)
n.4515-13T>A
c.920-13T>A
c.7900-13T>A (n.7900-13T>A)
c.7870-13T>A (n.7870-13T>A)
c.7807-13T>A (n.7807-13T>A)
c.6805-13T>A (n.6805-13T>A)
c.1253-13T>A
n.1453T>A
c.8006-13T>A (n.8006-13T>A)
c.855-13T>A
c.7861-13T>A (n.7861-13T>A)
c.7837-13T>A (n.7837-13T>A)
c.7897-13T>A (n.7897-13T>A)
c.7777-13T>A (n.7777-13T>A)
 dbSNP
17g.31357256T>CCA625475615NF1c.7852-13T>C (n.7852-13T>C)
c.2434-13T>C (n.2434-13T>C)
c.2026-13T>C (n.2026-13T>C)
n.4515-13T>C
c.920-13T>C
c.7900-13T>C (n.7900-13T>C)
c.7870-13T>C (n.7870-13T>C)
c.7807-13T>C (n.7807-13T>C)
c.6805-13T>C (n.6805-13T>C)
c.1253-13T>C
n.1453T>C
c.8006-13T>C (n.8006-13T>C)
c.855-13T>C
c.7861-13T>C (n.7861-13T>C)
c.7837-13T>C (n.7837-13T>C)
c.7897-13T>C (n.7897-13T>C)
c.7777-13T>C (n.7777-13T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.31357256T=CA2255615013NF1c.7852-13T= (n.7852-13T=)
c.2434-13T= (n.2434-13T=)
c.2026-13T= (n.2026-13T=)
n.4515-13T=
c.920-13T=
c.7900-13T= (n.7900-13T=)
c.7870-13T= (n.7870-13T=)
c.7807-13T= (n.7807-13T=)
c.6805-13T= (n.6805-13T=)
c.1253-13T=
n.1453T=
c.8006-13T= (n.8006-13T=)
c.855-13T=
c.7861-13T= (n.7861-13T=)
c.7837-13T= (n.7837-13T=)
c.7897-13T= (n.7897-13T=)
c.7777-13T= (n.7777-13T=)
17g.31357256_31357257delCA625475614NF1c.7852-13_7852-12del (n.7852-13_7852-12del)
c.2434-13_2434-12del (n.2434-13_2434-12del)
c.2026-13_2026-12del (n.2026-13_2026-12del)
n.4515-13_4515-12del
c.920-13_920-12del
c.7900-13_7900-12del (n.7900-13_7900-12del)
c.7870-13_7870-12del (n.7870-13_7870-12del)
c.7807-13_7807-12del (n.7807-13_7807-12del)
c.6805-13_6805-12del (n.6805-13_6805-12del)
c.1253-13_1253-12del
n.1453_1454del
c.8006-13_8006-12del (n.8006-13_8006-12del)
c.855-13_855-12del
c.7861-13_7861-12del (n.7861-13_7861-12del)
c.7837-13_7837-12del (n.7837-13_7837-12del)
c.7897-13_7897-12del (n.7897-13_7897-12del)
c.7777-13_7777-12del (n.7777-13_7777-12del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31357257G>ACA656437345NF1c.7852-12G>A (n.7852-12G>A)
c.2434-12G>A (n.2434-12G>A)
c.2026-12G>A (n.2026-12G>A)
n.4515-12G>A
c.920-12G>A
c.7900-12G>A (n.7900-12G>A)
c.7870-12G>A (n.7870-12G>A)
c.7807-12G>A (n.7807-12G>A)
c.6805-12G>A (n.6805-12G>A)
c.1253-12G>A
n.1454G>A
c.8006-12G>A (n.8006-12G>A)
c.855-12G>A
c.7861-12G>A (n.7861-12G>A)
c.7837-12G>A (n.7837-12G>A)
c.7897-12G>A (n.7897-12G>A)
c.7777-12G>A (n.7777-12G>A)
 dbSNP COSMIC
17g.31357257G>CCA2733612092NF1c.7852-12G>C (n.7852-12G>C)
c.2434-12G>C (n.2434-12G>C)
c.2026-12G>C (n.2026-12G>C)
n.4515-12G>C
c.920-12G>C
c.7900-12G>C (n.7900-12G>C)
c.7870-12G>C (n.7870-12G>C)
c.7807-12G>C (n.7807-12G>C)
c.6805-12G>C (n.6805-12G>C)
c.1253-12G>C
n.1454G>C
c.8006-12G>C (n.8006-12G>C)
c.855-12G>C
c.7861-12G>C (n.7861-12G>C)
c.7837-12G>C (n.7837-12G>C)
c.7897-12G>C (n.7897-12G>C)
c.7777-12G>C (n.7777-12G>C)
 dbSNP
17g.31357257G>TCA2733612160NF1c.7852-12G>T (n.7852-12G>T)
c.2434-12G>T (n.2434-12G>T)
c.2026-12G>T (n.2026-12G>T)
n.4515-12G>T
c.920-12G>T
c.7900-12G>T (n.7900-12G>T)
c.7870-12G>T (n.7870-12G>T)
c.7807-12G>T (n.7807-12G>T)
c.6805-12G>T (n.6805-12G>T)
c.1253-12G>T
n.1454G>T
c.8006-12G>T (n.8006-12G>T)
c.855-12G>T
c.7861-12G>T (n.7861-12G>T)
c.7837-12G>T (n.7837-12G>T)
c.7897-12G>T (n.7897-12G>T)
c.7777-12G>T (n.7777-12G>T)
 dbSNP
17g.31357258C>ACA2733612219NF1c.7852-11C>A (n.7852-11C>A)
c.2434-11C>A (n.2434-11C>A)
c.2026-11C>A (n.2026-11C>A)
n.4515-11C>A
c.920-11C>A
c.7900-11C>A (n.7900-11C>A)
c.7870-11C>A (n.7870-11C>A)
c.7807-11C>A (n.7807-11C>A)
c.6805-11C>A (n.6805-11C>A)
c.1253-11C>A
n.1455C>A
c.8006-11C>A (n.8006-11C>A)
c.855-11C>A
c.7861-11C>A (n.7861-11C>A)
c.7837-11C>A (n.7837-11C>A)
c.7897-11C>A (n.7897-11C>A)
c.7777-11C>A (n.7777-11C>A)
 dbSNP
17g.31357258C>GCA2733612229NF1c.7852-11C>G (n.7852-11C>G)
c.2434-11C>G (n.2434-11C>G)
c.2026-11C>G (n.2026-11C>G)
n.4515-11C>G
c.920-11C>G
c.7900-11C>G (n.7900-11C>G)
c.7870-11C>G (n.7870-11C>G)
c.7807-11C>G (n.7807-11C>G)
c.6805-11C>G (n.6805-11C>G)
c.1253-11C>G
n.1455C>G
c.8006-11C>G (n.8006-11C>G)
c.855-11C>G
c.7861-11C>G (n.7861-11C>G)
c.7837-11C>G (n.7837-11C>G)
c.7897-11C>G (n.7897-11C>G)
c.7777-11C>G (n.7777-11C>G)
 dbSNP
17g.31357258C>TCA2580093466NF1c.7852-11C>T (n.7852-11C>T)
c.2434-11C>T (n.2434-11C>T)
c.2026-11C>T (n.2026-11C>T)
n.4515-11C>T
c.920-11C>T
c.7900-11C>T (n.7900-11C>T)
c.7870-11C>T (n.7870-11C>T)
c.7807-11C>T (n.7807-11C>T)
c.6805-11C>T (n.6805-11C>T)
c.1253-11C>T
n.1455C>T
c.8006-11C>T (n.8006-11C>T)
c.855-11C>T
c.7861-11C>T (n.7861-11C>T)
c.7837-11C>T (n.7837-11C>T)
c.7897-11C>T (n.7897-11C>T)
c.7777-11C>T (n.7777-11C>T)
 ClinVar dbSNP
17g.31357259A=CA2255615017NF1c.7852-10A= (n.7852-10A=)
c.2434-10A= (n.2434-10A=)
c.2026-10A= (n.2026-10A=)
n.4515-10A=
c.920-10A=
c.7900-10A= (n.7900-10A=)
c.7870-10A= (n.7870-10A=)
c.7807-10A= (n.7807-10A=)
c.6805-10A= (n.6805-10A=)
c.1253-10A=
n.1456A=
c.8006-10A= (n.8006-10A=)
c.855-10A=
c.7861-10A= (n.7861-10A=)
c.7837-10A= (n.7837-10A=)
c.7897-10A= (n.7897-10A=)
c.7777-10A= (n.7777-10A=)
17g.31357259A>CCA2499224243NF1c.7852-10A>C (n.7852-10A>C)
c.2434-10A>C (n.2434-10A>C)
c.2026-10A>C (n.2026-10A>C)
n.4515-10A>C
c.920-10A>C
c.7900-10A>C (n.7900-10A>C)
c.7870-10A>C (n.7870-10A>C)
c.7807-10A>C (n.7807-10A>C)
c.6805-10A>C (n.6805-10A>C)
c.1253-10A>C
n.1456A>C
c.8006-10A>C (n.8006-10A>C)
c.855-10A>C
c.7861-10A>C (n.7861-10A>C)
c.7837-10A>C (n.7837-10A>C)
c.7897-10A>C (n.7897-10A>C)
c.7777-10A>C (n.7777-10A>C)
 ClinVar dbSNP
17g.31357259A>GCA915949908NF1c.7852-10A>G (n.7852-10A>G)
c.2434-10A>G (n.2434-10A>G)
c.2026-10A>G (n.2026-10A>G)
n.4515-10A>G
c.920-10A>G
c.7900-10A>G (n.7900-10A>G)
c.7870-10A>G (n.7870-10A>G)
c.7807-10A>G (n.7807-10A>G)
c.6805-10A>G (n.6805-10A>G)
c.1253-10A>G
n.1456A>G
c.8006-10A>G (n.8006-10A>G)
c.855-10A>G
c.7861-10A>G (n.7861-10A>G)
c.7837-10A>G (n.7837-10A>G)
c.7897-10A>G (n.7897-10A>G)
c.7777-10A>G (n.7777-10A>G)
 ClinVar dbSNP gnomAD v4
17g.31357259A>TCA2733270659NF1c.7852-10A>T (n.7852-10A>T)
c.2434-10A>T (n.2434-10A>T)
c.2026-10A>T (n.2026-10A>T)
n.4515-10A>T
c.920-10A>T
c.7900-10A>T (n.7900-10A>T)
c.7870-10A>T (n.7870-10A>T)
c.7807-10A>T (n.7807-10A>T)
c.6805-10A>T (n.6805-10A>T)
c.1253-10A>T
n.1456A>T
c.8006-10A>T (n.8006-10A>T)
c.855-10A>T
c.7861-10A>T (n.7861-10A>T)
c.7837-10A>T (n.7837-10A>T)
c.7897-10A>T (n.7897-10A>T)
c.7777-10A>T (n.7777-10A>T)
 dbSNP
17g.31357261C>ACA350845NF1c.7852-8C>A (n.7852-8C>A)
c.2434-8C>A (n.2434-8C>A)
c.2026-8C>A (n.2026-8C>A)
n.4515-8C>A
c.920-8C>A
c.7900-8C>A (n.7900-8C>A)
c.7870-8C>A (n.7870-8C>A)
c.7807-8C>A (n.7807-8C>A)
c.6805-8C>A (n.6805-8C>A)
c.1253-8C>A
n.1458C>A
c.8006-8C>A (n.8006-8C>A)
c.855-8C>A
c.7861-8C>A (n.7861-8C>A)
c.7837-8C>A (n.7837-8C>A)
c.7897-8C>A (n.7897-8C>A)
c.7777-8C>A (n.7777-8C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357261C=CA2255615024NF1c.7852-8C= (n.7852-8C=)
c.2434-8C= (n.2434-8C=)
c.2026-8C= (n.2026-8C=)
n.4515-8C=
c.920-8C=
c.7900-8C= (n.7900-8C=)
c.7870-8C= (n.7870-8C=)
c.7807-8C= (n.7807-8C=)
c.6805-8C= (n.6805-8C=)
c.1253-8C=
n.1458C=
c.8006-8C= (n.8006-8C=)
c.855-8C=
c.7861-8C= (n.7861-8C=)
c.7837-8C= (n.7837-8C=)
c.7897-8C= (n.7897-8C=)
c.7777-8C= (n.7777-8C=)
17g.31357261C>GCA2733206677NF1c.7852-8C>G (n.7852-8C>G)
c.2434-8C>G (n.2434-8C>G)
c.2026-8C>G (n.2026-8C>G)
n.4515-8C>G
c.920-8C>G
c.7900-8C>G (n.7900-8C>G)
c.7870-8C>G (n.7870-8C>G)
c.7807-8C>G (n.7807-8C>G)
c.6805-8C>G (n.6805-8C>G)
c.1253-8C>G
n.1458C>G
c.8006-8C>G (n.8006-8C>G)
c.855-8C>G
c.7861-8C>G (n.7861-8C>G)
c.7837-8C>G (n.7837-8C>G)
c.7897-8C>G (n.7897-8C>G)
c.7777-8C>G (n.7777-8C>G)
 dbSNP
17g.31357261C>TCA915949909NF1c.7852-8C>T (n.7852-8C>T)
c.2434-8C>T (n.2434-8C>T)
c.2026-8C>T (n.2026-8C>T)
n.4515-8C>T
c.920-8C>T
c.7900-8C>T (n.7900-8C>T)
c.7870-8C>T (n.7870-8C>T)
c.7807-8C>T (n.7807-8C>T)
c.6805-8C>T (n.6805-8C>T)
c.1253-8C>T
n.1458C>T
c.8006-8C>T (n.8006-8C>T)
c.855-8C>T
c.7861-8C>T (n.7861-8C>T)
c.7837-8C>T (n.7837-8C>T)
c.7897-8C>T (n.7897-8C>T)
c.7777-8C>T (n.7777-8C>T)
 ClinVar dbSNP gnomAD v4
17g.31357262T>ACA2733612266NF1c.7852-7T>A (n.7852-7T>A)
c.2434-7T>A (n.2434-7T>A)
c.2026-7T>A (n.2026-7T>A)
n.4515-7T>A
c.920-7T>A
c.7900-7T>A (n.7900-7T>A)
c.7870-7T>A (n.7870-7T>A)
c.7807-7T>A (n.7807-7T>A)
c.6805-7T>A (n.6805-7T>A)
c.1253-7T>A
n.1459T>A
c.8006-7T>A (n.8006-7T>A)
c.855-7T>A
c.7861-7T>A (n.7861-7T>A)
c.7837-7T>A (n.7837-7T>A)
c.7897-7T>A (n.7897-7T>A)
c.7777-7T>A (n.7777-7T>A)
 dbSNP
17g.31357262T>CCA2499224244NF1c.7852-7T>C (n.7852-7T>C)
c.2434-7T>C (n.2434-7T>C)
c.2026-7T>C (n.2026-7T>C)
n.4515-7T>C
c.920-7T>C
c.7900-7T>C (n.7900-7T>C)
c.7870-7T>C (n.7870-7T>C)
c.7807-7T>C (n.7807-7T>C)
c.6805-7T>C (n.6805-7T>C)
c.1253-7T>C
n.1459T>C
c.8006-7T>C (n.8006-7T>C)
c.855-7T>C
c.7861-7T>C (n.7861-7T>C)
c.7837-7T>C (n.7837-7T>C)
c.7897-7T>C (n.7897-7T>C)
c.7777-7T>C (n.7777-7T>C)
 ClinVar dbSNP
17g.31357263T>ACA2573153453NF1c.7852-6T>A (n.7852-6T>A)
c.2434-6T>A (n.2434-6T>A)
c.2026-6T>A (n.2026-6T>A)
n.4515-6T>A
c.920-6T>A
c.7900-6T>A (n.7900-6T>A)
c.7870-6T>A (n.7870-6T>A)
c.7807-6T>A (n.7807-6T>A)
c.6805-6T>A (n.6805-6T>A)
c.1253-6T>A
n.1460T>A
c.8006-6T>A (n.8006-6T>A)
c.855-6T>A
c.7861-6T>A (n.7861-6T>A)
c.7837-6T>A (n.7837-6T>A)
c.7897-6T>A (n.7897-6T>A)
c.7777-6T>A (n.7777-6T>A)
 ClinVar dbSNP
17g.31357264G>ACA2733226498NF1c.7852-5G>A (n.7852-5G>A)
c.2434-5G>A (n.2434-5G>A)
c.2026-5G>A (n.2026-5G>A)
n.4515-5G>A
c.920-5G>A
c.7900-5G>A (n.7900-5G>A)
c.7870-5G>A (n.7870-5G>A)
c.7807-5G>A (n.7807-5G>A)
c.6805-5G>A (n.6805-5G>A)
c.1253-5G>A
n.1461G>A
c.8006-5G>A (n.8006-5G>A)
c.855-5G>A
c.7861-5G>A (n.7861-5G>A)
c.7837-5G>A (n.7837-5G>A)
c.7897-5G>A (n.7897-5G>A)
c.7777-5G>A (n.7777-5G>A)
 dbSNP
17g.31357264G>CCA625475616NF1c.7852-5G>C (n.7852-5G>C)
c.2434-5G>C (n.2434-5G>C)
c.2026-5G>C (n.2026-5G>C)
n.4515-5G>C
c.920-5G>C
c.7900-5G>C (n.7900-5G>C)
c.7870-5G>C (n.7870-5G>C)
c.7807-5G>C (n.7807-5G>C)
c.6805-5G>C (n.6805-5G>C)
c.1253-5G>C
n.1461G>C
c.8006-5G>C (n.8006-5G>C)
c.855-5G>C
c.7861-5G>C (n.7861-5G>C)
c.7837-5G>C (n.7837-5G>C)
c.7897-5G>C (n.7897-5G>C)
c.7777-5G>C (n.7777-5G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31357264G=CA2255615030NF1c.7852-5G= (n.7852-5G=)
c.2434-5G= (n.2434-5G=)
c.2026-5G= (n.2026-5G=)
n.4515-5G=
c.920-5G=
c.7900-5G= (n.7900-5G=)
c.7870-5G= (n.7870-5G=)
c.7807-5G= (n.7807-5G=)
c.6805-5G= (n.6805-5G=)
c.1253-5G=
n.1461G=
c.8006-5G= (n.8006-5G=)
c.855-5G=
c.7861-5G= (n.7861-5G=)
c.7837-5G= (n.7837-5G=)
c.7897-5G= (n.7897-5G=)
c.7777-5G= (n.7777-5G=)
17g.31357264G>TCA915949910NF1c.7852-5G>T (n.7852-5G>T)
c.2434-5G>T (n.2434-5G>T)
c.2026-5G>T (n.2026-5G>T)
n.4515-5G>T
c.920-5G>T
c.7900-5G>T (n.7900-5G>T)
c.7870-5G>T (n.7870-5G>T)
c.7807-5G>T (n.7807-5G>T)
c.6805-5G>T (n.6805-5G>T)
c.1253-5G>T
n.1461G>T
c.8006-5G>T (n.8006-5G>T)
c.855-5G>T
c.7861-5G>T (n.7861-5G>T)
c.7837-5G>T (n.7837-5G>T)
c.7897-5G>T (n.7897-5G>T)
c.7777-5G>T (n.7777-5G>T)
 ClinVar dbSNP gnomAD v4
17g.31357265G>ACA2733252092NF1c.7852-4G>A (n.7852-4G>A)
c.2434-4G>A (n.2434-4G>A)
c.2026-4G>A (n.2026-4G>A)
n.4515-4G>A
c.920-4G>A
c.7900-4G>A (n.7900-4G>A)
c.7870-4G>A (n.7870-4G>A)
c.7807-4G>A (n.7807-4G>A)
c.6805-4G>A (n.6805-4G>A)
c.1253-4G>A
n.1462G>A
c.8006-4G>A (n.8006-4G>A)
c.855-4G>A
c.7861-4G>A (n.7861-4G>A)
c.7837-4G>A (n.7837-4G>A)
c.7897-4G>A (n.7897-4G>A)
c.7777-4G>A (n.7777-4G>A)
 ClinVar dbSNP
17g.31357265G>CCA2733252091NF1c.7852-4G>C (n.7852-4G>C)
c.2434-4G>C (n.2434-4G>C)
c.2026-4G>C (n.2026-4G>C)
n.4515-4G>C
c.920-4G>C
c.7900-4G>C (n.7900-4G>C)
c.7870-4G>C (n.7870-4G>C)
c.7807-4G>C (n.7807-4G>C)
c.6805-4G>C (n.6805-4G>C)
c.1253-4G>C
n.1462G>C
c.8006-4G>C (n.8006-4G>C)
c.855-4G>C
c.7861-4G>C (n.7861-4G>C)
c.7837-4G>C (n.7837-4G>C)
c.7897-4G>C (n.7897-4G>C)
c.7777-4G>C (n.7777-4G>C)
 dbSNP
17g.31357265G=CA2255615034NF1c.7852-4G= (n.7852-4G=)
c.2434-4G= (n.2434-4G=)
c.2026-4G= (n.2026-4G=)
n.4515-4G=
c.920-4G=
c.7900-4G= (n.7900-4G=)
c.7870-4G= (n.7870-4G=)
c.7807-4G= (n.7807-4G=)
c.6805-4G= (n.6805-4G=)
c.1253-4G=
n.1462G=
c.8006-4G= (n.8006-4G=)
c.855-4G=
c.7861-4G= (n.7861-4G=)
c.7837-4G= (n.7837-4G=)
c.7897-4G= (n.7897-4G=)
c.7777-4G= (n.7777-4G=)
17g.31357265G>TCA625475617NF1c.7852-4G>T (n.7852-4G>T)
c.2434-4G>T (n.2434-4G>T)
c.2026-4G>T (n.2026-4G>T)
n.4515-4G>T
c.920-4G>T
c.7900-4G>T (n.7900-4G>T)
c.7870-4G>T (n.7870-4G>T)
c.7807-4G>T (n.7807-4G>T)
c.6805-4G>T (n.6805-4G>T)
c.1253-4G>T
n.1462G>T
c.8006-4G>T (n.8006-4G>T)
c.855-4G>T
c.7861-4G>T (n.7861-4G>T)
c.7837-4G>T (n.7837-4G>T)
c.7897-4G>T (n.7897-4G>T)
c.7777-4G>T (n.7777-4G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31357266C>ACA2733270660NF1c.7852-3C>A (n.7852-3C>A)
c.2434-3C>A (n.2434-3C>A)
c.2026-3C>A (n.2026-3C>A)
n.4515-3C>A
c.920-3C>A
c.7900-3C>A (n.7900-3C>A)
c.7870-3C>A (n.7870-3C>A)
c.7807-3C>A (n.7807-3C>A)
c.6805-3C>A (n.6805-3C>A)
c.1253-3C>A
n.1463C>A
c.8006-3C>A (n.8006-3C>A)
c.855-3C>A
c.7861-3C>A (n.7861-3C>A)
c.7837-3C>A (n.7837-3C>A)
c.7897-3C>A (n.7897-3C>A)
c.7777-3C>A (n.7777-3C>A)
 dbSNP
17g.31357266C=CA2255615037NF1c.7852-3C= (n.7852-3C=)
c.2434-3C= (n.2434-3C=)
c.2026-3C= (n.2026-3C=)
n.4515-3C=
c.920-3C=
c.7900-3C= (n.7900-3C=)
c.7870-3C= (n.7870-3C=)
c.7807-3C= (n.7807-3C=)
c.6805-3C= (n.6805-3C=)
c.1253-3C=
n.1463C=
c.8006-3C= (n.8006-3C=)
c.855-3C=
c.7861-3C= (n.7861-3C=)
c.7837-3C= (n.7837-3C=)
c.7897-3C= (n.7897-3C=)
c.7777-3C= (n.7777-3C=)
17g.31357266C>GCA658761041NF1c.7852-3C>G (n.7852-3C>G)
c.2434-3C>G (n.2434-3C>G)
c.2026-3C>G (n.2026-3C>G)
n.4515-3C>G
c.920-3C>G
c.7900-3C>G (n.7900-3C>G)
c.7870-3C>G (n.7870-3C>G)
c.7807-3C>G (n.7807-3C>G)
c.6805-3C>G (n.6805-3C>G)
c.1253-3C>G
n.1463C>G
c.8006-3C>G (n.8006-3C>G)
c.855-3C>G
c.7861-3C>G (n.7861-3C>G)
c.7837-3C>G (n.7837-3C>G)
c.7897-3C>G (n.7897-3C>G)
c.7777-3C>G (n.7777-3C>G)
 ClinVar dbSNP
17g.31357266C>TCA916080681NF1c.7852-3C>T (n.7852-3C>T)
c.2434-3C>T (n.2434-3C>T)
c.2026-3C>T (n.2026-3C>T)
n.4515-3C>T
c.920-3C>T
c.7900-3C>T (n.7900-3C>T)
c.7870-3C>T (n.7870-3C>T)
c.7807-3C>T (n.7807-3C>T)
c.6805-3C>T (n.6805-3C>T)
c.1253-3C>T
n.1463C>T
c.8006-3C>T (n.8006-3C>T)
c.855-3C>T
c.7861-3C>T (n.7861-3C>T)
c.7837-3C>T (n.7837-3C>T)
c.7897-3C>T (n.7897-3C>T)
c.7777-3C>T (n.7777-3C>T)
 ClinVar dbSNP gnomAD v4
17g.31357267A=CA2255615042NF1c.7852-2A= (n.7852-2A=)
c.2434-2A= (n.2434-2A=)
c.2026-2A= (n.2026-2A=)
n.4515-2A=
c.920-2A=
c.7900-2A= (n.7900-2A=)
c.7870-2A= (n.7870-2A=)
c.7807-2A= (n.7807-2A=)
c.6805-2A= (n.6805-2A=)
c.1253-2A=
n.1464A=
c.8006-2A= (n.8006-2A=)
c.855-2A=
c.7861-2A= (n.7861-2A=)
c.7837-2A= (n.7837-2A=)
c.7897-2A= (n.7897-2A=)
c.7777-2A= (n.7777-2A=)
17g.31357267A>CCA399018744NF1c.7852-2A>C (n.7852-2A>C)
c.2434-2A>C (n.2434-2A>C)
c.2026-2A>C (n.2026-2A>C)
n.4515-2A>C
c.920-2A>C
c.7900-2A>C (n.7900-2A>C)
c.7870-2A>C (n.7870-2A>C)
c.7807-2A>C (n.7807-2A>C)
c.6805-2A>C (n.6805-2A>C)
c.1253-2A>C
n.1464A>C
c.8006-2A>C (n.8006-2A>C)
c.855-2A>C
c.7861-2A>C (n.7861-2A>C)
c.7837-2A>C (n.7837-2A>C)
c.7897-2A>C (n.7897-2A>C)
c.7777-2A>C (n.7777-2A>C)
 ClinVar dbSNP
17g.31357267A>GCA399018746NF1c.7852-2A>G (n.7852-2A>G)
c.2434-2A>G (n.2434-2A>G)
c.2026-2A>G (n.2026-2A>G)
n.4515-2A>G
c.920-2A>G
c.7900-2A>G (n.7900-2A>G)
c.7870-2A>G (n.7870-2A>G)
c.7807-2A>G (n.7807-2A>G)
c.6805-2A>G (n.6805-2A>G)
c.1253-2A>G
n.1464A>G
c.8006-2A>G (n.8006-2A>G)
c.855-2A>G
c.7861-2A>G (n.7861-2A>G)
c.7837-2A>G (n.7837-2A>G)
c.7897-2A>G (n.7897-2A>G)
c.7777-2A>G (n.7777-2A>G)
 ClinVar dbSNP
17g.31357267A>TCA399018747NF1c.7852-2A>T (n.7852-2A>T)
c.2434-2A>T (n.2434-2A>T)
c.2026-2A>T (n.2026-2A>T)
n.4515-2A>T
c.920-2A>T
c.7900-2A>T (n.7900-2A>T)
c.7870-2A>T (n.7870-2A>T)
c.7807-2A>T (n.7807-2A>T)
c.6805-2A>T (n.6805-2A>T)
c.1253-2A>T
n.1464A>T
c.8006-2A>T (n.8006-2A>T)
c.855-2A>T
c.7861-2A>T (n.7861-2A>T)
c.7837-2A>T (n.7837-2A>T)
c.7897-2A>T (n.7897-2A>T)
c.7777-2A>T (n.7777-2A>T)
 dbSNP COSMIC
17g.31357268G>ACA399018752NF1c.7852-1G>A (n.7852-1G>A)
c.2434-1G>A (n.2434-1G>A)
c.2026-1G>A (n.2026-1G>A)
n.4515-1G>A
c.920-1G>A
c.7900-1G>A (n.7900-1G>A)
c.7870-1G>A (n.7870-1G>A)
c.7807-1G>A (n.7807-1G>A)
c.6805-1G>A (n.6805-1G>A)
c.1253-1G>A
n.1465G>A
c.8006-1G>A (n.8006-1G>A)
c.855-1G>A
c.7861-1G>A (n.7861-1G>A)
c.7837-1G>A (n.7837-1G>A)
c.7897-1G>A (n.7897-1G>A)
c.7777-1G>A (n.7777-1G>A)
 ClinVar dbSNP
17g.31357268G>CCA399018750NF1c.7852-1G>C (n.7852-1G>C)
c.2434-1G>C (n.2434-1G>C)
c.2026-1G>C (n.2026-1G>C)
n.4515-1G>C
c.920-1G>C
c.7900-1G>C (n.7900-1G>C)
c.7870-1G>C (n.7870-1G>C)
c.7807-1G>C (n.7807-1G>C)
c.6805-1G>C (n.6805-1G>C)
c.1253-1G>C
n.1465G>C
c.8006-1G>C (n.8006-1G>C)
c.855-1G>C
c.7861-1G>C (n.7861-1G>C)
c.7837-1G>C (n.7837-1G>C)
c.7897-1G>C (n.7897-1G>C)
c.7777-1G>C (n.7777-1G>C)
 ClinVar dbSNP
17g.31357268G=CA2255615046NF1c.7852-1G= (n.7852-1G=)
c.2434-1G= (n.2434-1G=)
c.2026-1G= (n.2026-1G=)
n.4515-1G=
c.920-1G=
c.7900-1G= (n.7900-1G=)
c.7870-1G= (n.7870-1G=)
c.7807-1G= (n.7807-1G=)
c.6805-1G= (n.6805-1G=)
c.1253-1G=
n.1465G=
c.8006-1G= (n.8006-1G=)
c.855-1G=
c.7861-1G= (n.7861-1G=)
c.7837-1G= (n.7837-1G=)
c.7897-1G= (n.7897-1G=)
c.7777-1G= (n.7777-1G=)
17g.31357268G>TCA399018749NF1c.7852-1G>T (n.7852-1G>T)
c.2434-1G>T (n.2434-1G>T)
c.2026-1G>T (n.2026-1G>T)
n.4515-1G>T
c.920-1G>T
c.7900-1G>T (n.7900-1G>T)
c.7870-1G>T (n.7870-1G>T)
c.7807-1G>T (n.7807-1G>T)
c.6805-1G>T (n.6805-1G>T)
c.1253-1G>T
n.1465G>T
c.8006-1G>T (n.8006-1G>T)
c.855-1G>T
c.7861-1G>T (n.7861-1G>T)
c.7837-1G>T (n.7837-1G>T)
c.7897-1G>T (n.7897-1G>T)
c.7777-1G>T (n.7777-1G>T)
 dbSNP
17g.31357269delCA2695225537NF1c.7852del
c.2434del
c.2026del
n.4515del
c.920del
c.7900del
c.7870del
c.7807del
c.6805del
c.1253del
n.1466del
c.8006del
c.855del
c.7861del
c.7837del
c.7897del
c.7777del
17g.31357269G>ACA399018754NF1c.7852G>A (p.Ala2618Thr)
c.2434G>A (p.Ala812Thr)
c.2026G>A (p.Ala676Thr)
n.4515G>A
c.920G>A
c.7900G>A (p.Ala2634Thr)
c.7870G>A (p.Ala2624Thr)
c.7807G>A (p.Ala2603Thr)
c.6805G>A (p.Ala2269Thr)
c.1253G>A
n.1466G>A
c.8006G>A (n.8006G>A)
c.855G>A
c.7861G>A (p.Ala2621Thr)
c.7837G>A (p.Ala2613Thr)
c.7897G>A (p.Ala2633Thr)
c.7777G>A (p.Ala2593Thr)
 ClinVar dbSNP gnomAD v4
17g.31357269G>CCA399018755NF1c.7852G>C (p.Ala2618Pro)
c.2434G>C (p.Ala812Pro)
c.2026G>C (p.Ala676Pro)
n.4515G>C
c.920G>C
c.7900G>C (p.Ala2634Pro)
c.7870G>C (p.Ala2624Pro)
c.7807G>C (p.Ala2603Pro)
c.6805G>C (p.Ala2269Pro)
c.1253G>C
n.1466G>C
c.8006G>C (n.8006G>C)
c.855G>C
c.7861G>C (p.Ala2621Pro)
c.7837G>C (p.Ala2613Pro)
c.7897G>C (p.Ala2633Pro)
c.7777G>C (p.Ala2593Pro)
 ClinVar dbSNP
17g.31357269G=CA2255615058NF1c.7852G= (p.Ala2618=)
c.2434G= (p.Ala812=)
c.2026G= (p.Ala676=)
n.4515G=
c.920G=
c.7900G= (p.Ala2634=)
c.7870G= (p.Ala2624=)
c.7807G= (p.Ala2603=)
c.6805G= (p.Ala2269=)
c.1253G=
n.1466G=
c.8006G= (n.8006G=)
c.855G=
c.7861G= (p.Ala2621=)
c.7837G= (p.Ala2613=)
c.7897G= (p.Ala2633=)
c.7777G= (p.Ala2593=)
17g.31357269G>TCA399018757NF1c.7852G>T (p.Ala2618Ser)
c.2434G>T (p.Ala812Ser)
c.2026G>T (p.Ala676Ser)
n.4515G>T
c.920G>T
c.7900G>T (p.Ala2634Ser)
c.7870G>T (p.Ala2624Ser)
c.7807G>T (p.Ala2603Ser)
c.6805G>T (p.Ala2269Ser)
c.1253G>T
n.1466G>T
c.8006G>T (n.8006G>T)
c.855G>T
c.7861G>T (p.Ala2621Ser)
c.7837G>T (p.Ala2613Ser)
c.7897G>T (p.Ala2633Ser)
c.7777G>T (p.Ala2593Ser)
17g.31357270C>ACA399018759NF1c.7853C>A (p.Ala2618Asp)
c.2435C>A (p.Ala812Asp)
c.2027C>A (p.Ala676Asp)
n.4516C>A
c.921C>A
c.7901C>A (p.Ala2634Asp)
c.7871C>A (p.Ala2624Asp)
c.7808C>A (p.Ala2603Asp)
c.6806C>A (p.Ala2269Asp)
c.1254C>A
n.1467C>A
c.8007C>A (n.8007C>A)
c.856C>A
c.7862C>A (p.Ala2621Asp)
c.7838C>A (p.Ala2613Asp)
c.7898C>A (p.Ala2633Asp)
c.7778C>A (p.Ala2593Asp)
 dbSNP
17g.31357270C>GCA399018761NF1c.7853C>G (p.Ala2618Gly)
c.2435C>G (p.Ala812Gly)
c.2027C>G (p.Ala676Gly)
n.4516C>G
c.921C>G
c.7901C>G (p.Ala2634Gly)
c.7871C>G (p.Ala2624Gly)
c.7808C>G (p.Ala2603Gly)
c.6806C>G (p.Ala2269Gly)
c.1254C>G
n.1467C>G
c.8007C>G (n.8007C>G)
c.856C>G
c.7862C>G (p.Ala2621Gly)
c.7838C>G (p.Ala2613Gly)
c.7898C>G (p.Ala2633Gly)
c.7778C>G (p.Ala2593Gly)
 dbSNP
17g.31357270C>TCA399018762NF1c.7853C>T (p.Ala2618Val)
c.2435C>T (p.Ala812Val)
c.2027C>T (p.Ala676Val)
n.4516C>T
c.921C>T
c.7901C>T (p.Ala2634Val)
c.7871C>T (p.Ala2624Val)
c.7808C>T (p.Ala2603Val)
c.6806C>T (p.Ala2269Val)
c.1254C>T
n.1467C>T
c.8007C>T (n.8007C>T)
c.856C>T
c.7862C>T (p.Ala2621Val)
c.7838C>T (p.Ala2613Val)
c.7898C>T (p.Ala2633Val)
c.7778C>T (p.Ala2593Val)
17g.31357271T>ACA499239494NF1c.7854T>A (p.Ala2618=)
c.2436T>A (p.Ala812=)
c.2028T>A (p.Ala676=)
n.4517T>A
c.922T>A
c.7902T>A (p.Ala2634=)
c.7872T>A (p.Ala2624=)
c.7809T>A (p.Ala2603=)
c.6807T>A (p.Ala2269=)
c.1255T>A
n.1468T>A
c.8008T>A (n.8008T>A)
c.857T>A
c.7863T>A (p.Ala2621=)
c.7839T>A (p.Ala2613=)
c.7899T>A (p.Ala2633=)
c.7779T>A (p.Ala2593=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31357271T>CCA499239495NF1c.7854T>C (p.Ala2618=)
c.2436T>C (p.Ala812=)
c.2028T>C (p.Ala676=)
n.4517T>C
c.922T>C
c.7902T>C (p.Ala2634=)
c.7872T>C (p.Ala2624=)
c.7809T>C (p.Ala2603=)
c.6807T>C (p.Ala2269=)
c.1255T>C
n.1468T>C
c.8008T>C (n.8008T>C)
c.857T>C
c.7863T>C (p.Ala2621=)
c.7839T>C (p.Ala2613=)
c.7899T>C (p.Ala2633=)
c.7779T>C (p.Ala2593=)
 ClinVar dbSNP
17g.31357271T>GCA499239496NF1c.7854T>G (p.Ala2618=)
c.2436T>G (p.Ala812=)
c.2028T>G (p.Ala676=)
n.4517T>G
c.922T>G
c.7902T>G (p.Ala2634=)
c.7872T>G (p.Ala2624=)
c.7809T>G (p.Ala2603=)
c.6807T>G (p.Ala2269=)
c.1255T>G
n.1468T>G
c.8008T>G (n.8008T>G)
c.857T>G
c.7863T>G (p.Ala2621=)
c.7839T>G (p.Ala2613=)
c.7899T>G (p.Ala2633=)
c.7779T>G (p.Ala2593=)
17g.31357271T=CA2255615067NF1c.7854T= (p.Ala2618=)
c.2436T= (p.Ala812=)
c.2028T= (p.Ala676=)
n.4517T=
c.922T=
c.7902T= (p.Ala2634=)
c.7872T= (p.Ala2624=)
c.7809T= (p.Ala2603=)
c.6807T= (p.Ala2269=)
c.1255T=
n.1468T=
c.8008T= (n.8008T=)
c.857T=
c.7863T= (p.Ala2621=)
c.7839T= (p.Ala2613=)
c.7899T= (p.Ala2633=)
c.7779T= (p.Ala2593=)
17g.31357272A=CA2255615074NF1c.7855A= (p.Thr2619=)
c.2437A= (p.Thr813=)
c.2029A= (p.Thr677=)
n.4518A=
c.923A=
c.7903A= (p.Thr2635=)
c.7873A= (p.Thr2625=)
c.7810A= (p.Thr2604=)
c.6808A= (p.Thr2270=)
c.1256A=
n.1469A=
c.8009A= (n.8009A=)
c.858A=
c.7864A= (p.Thr2622=)
c.7840A= (p.Thr2614=)
c.7900A= (p.Thr2634=)
c.7780A= (p.Thr2594=)
17g.31357272A>CCA399018764NF1c.7855A>C (p.Thr2619Pro)
c.2437A>C (p.Thr813Pro)
c.2029A>C (p.Thr677Pro)
n.4518A>C
c.923A>C
c.7903A>C (p.Thr2635Pro)
c.7873A>C (p.Thr2625Pro)
c.7810A>C (p.Thr2604Pro)
c.6808A>C (p.Thr2270Pro)
c.1256A>C
n.1469A>C
c.8009A>C (n.8009A>C)
c.858A>C
c.7864A>C (p.Thr2622Pro)
c.7840A>C (p.Thr2614Pro)
c.7900A>C (p.Thr2634Pro)
c.7780A>C (p.Thr2594Pro)
17g.31357272A>GCA399018765NF1c.7855A>G (p.Thr2619Ala)
c.2437A>G (p.Thr813Ala)
c.2029A>G (p.Thr677Ala)
n.4518A>G
c.923A>G
c.7903A>G (p.Thr2635Ala)
c.7873A>G (p.Thr2625Ala)
c.7810A>G (p.Thr2604Ala)
c.6808A>G (p.Thr2270Ala)
c.1256A>G
n.1469A>G
c.8009A>G (n.8009A>G)
c.858A>G
c.7864A>G (p.Thr2622Ala)
c.7840A>G (p.Thr2614Ala)
c.7900A>G (p.Thr2634Ala)
c.7780A>G (p.Thr2594Ala)
 ClinVar dbSNP
17g.31357272A>TCA399018766NF1c.7855A>T (p.Thr2619Ser)
c.2437A>T (p.Thr813Ser)
c.2029A>T (p.Thr677Ser)
n.4518A>T
c.923A>T
c.7903A>T (p.Thr2635Ser)
c.7873A>T (p.Thr2625Ser)
c.7810A>T (p.Thr2604Ser)
c.6808A>T (p.Thr2270Ser)
c.1256A>T
n.1469A>T
c.8009A>T (n.8009A>T)
c.858A>T
c.7864A>T (p.Thr2622Ser)
c.7840A>T (p.Thr2614Ser)
c.7900A>T (p.Thr2634Ser)
c.7780A>T (p.Thr2594Ser)
 dbSNP
17g.31357273C>ACA399018769NF1c.7856C>A (p.Thr2619Lys)
c.2438C>A (p.Thr813Lys)
c.2030C>A (p.Thr677Lys)
n.4519C>A
c.924C>A
c.7904C>A (p.Thr2635Lys)
c.7874C>A (p.Thr2625Lys)
c.7811C>A (p.Thr2604Lys)
c.6809C>A (p.Thr2270Lys)
c.1257C>A
n.1470C>A
c.8010C>A (n.8010C>A)
c.859C>A
c.7865C>A (p.Thr2622Lys)
c.7841C>A (p.Thr2614Lys)
c.7901C>A (p.Thr2634Lys)
c.7781C>A (p.Thr2594Lys)
17g.31357273C>GCA399018770NF1c.7856C>G (p.Thr2619Arg)
c.2438C>G (p.Thr813Arg)
c.2030C>G (p.Thr677Arg)
n.4519C>G
c.924C>G
c.7904C>G (p.Thr2635Arg)
c.7874C>G (p.Thr2625Arg)
c.7811C>G (p.Thr2604Arg)
c.6809C>G (p.Thr2270Arg)
c.1257C>G
n.1470C>G
c.8010C>G (n.8010C>G)
c.859C>G
c.7865C>G (p.Thr2622Arg)
c.7841C>G (p.Thr2614Arg)
c.7901C>G (p.Thr2634Arg)
c.7781C>G (p.Thr2594Arg)
 dbSNP
17g.31357273C>TCA399018771NF1c.7856C>T (p.Thr2619Ile)
c.2438C>T (p.Thr813Ile)
c.2030C>T (p.Thr677Ile)
n.4519C>T
c.924C>T
c.7904C>T (p.Thr2635Ile)
c.7874C>T (p.Thr2625Ile)
c.7811C>T (p.Thr2604Ile)
c.6809C>T (p.Thr2270Ile)
c.1257C>T
n.1470C>T
c.8010C>T (n.8010C>T)
c.859C>T
c.7865C>T (p.Thr2622Ile)
c.7841C>T (p.Thr2614Ile)
c.7901C>T (p.Thr2634Ile)
c.7781C>T (p.Thr2594Ile)
 ClinVar dbSNP
17g.31357274delCA2695225538NF1c.7857del (p.Leu2620TrpfsTer2)
c.2439del (p.Leu814TrpfsTer2)
c.2031del (p.Leu678TrpfsTer2)
n.4520del
c.925del
c.7905del (p.Leu2636TrpfsTer2)
c.7875del (p.Leu2626TrpfsTer2)
c.7812del (p.Leu2605TrpfsTer2)
c.6810del (p.Leu2271TrpfsTer2)
c.1258del
n.1471del
c.8011del (n.8011del)
c.860del
c.7866del (p.Leu2623TrpfsTer2)
c.7842del (p.Leu2615TrpfsTer2)
c.7902del (p.Leu2635TrpfsTer2)
c.7782del (p.Leu2595TrpfsTer2)
17g.31357274A=CA2255615078NF1c.7857A= (p.Thr2619=)
c.2439A= (p.Thr813=)
c.2031A= (p.Thr677=)
n.4520A=
c.925A=
c.7905A= (p.Thr2635=)
c.7875A= (p.Thr2625=)
c.7812A= (p.Thr2604=)
c.6810A= (p.Thr2270=)
c.1258A=
n.1471A=
c.8011A= (n.8011A=)
c.860A=
c.7866A= (p.Thr2622=)
c.7842A= (p.Thr2614=)
c.7902A= (p.Thr2634=)
c.7782A= (p.Thr2594=)
17g.31357274A>CCA499239497NF1c.7857A>C (p.Thr2619=)
c.2439A>C (p.Thr813=)
c.2031A>C (p.Thr677=)
n.4520A>C
c.925A>C
c.7905A>C (p.Thr2635=)
c.7875A>C (p.Thr2625=)
c.7812A>C (p.Thr2604=)
c.6810A>C (p.Thr2270=)
c.1258A>C
n.1471A>C
c.8011A>C (n.8011A>C)
c.860A>C
c.7866A>C (p.Thr2622=)
c.7842A>C (p.Thr2614=)
c.7902A>C (p.Thr2634=)
c.7782A>C (p.Thr2594=)
17g.31357274A>GCA8487687NF1c.7857A>G (p.Thr2619=)
c.2439A>G (p.Thr813=)
c.2031A>G (p.Thr677=)
n.4520A>G
c.925A>G
c.7905A>G (p.Thr2635=)
c.7875A>G (p.Thr2625=)
c.7812A>G (p.Thr2604=)
c.6810A>G (p.Thr2270=)
c.1258A>G
n.1471A>G
c.8011A>G (n.8011A>G)
c.860A>G
c.7866A>G (p.Thr2622=)
c.7842A>G (p.Thr2614=)
c.7902A>G (p.Thr2634=)
c.7782A>G (p.Thr2594=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357274A>TCA499239498NF1c.7857A>T (p.Thr2619=)
c.2439A>T (p.Thr813=)
c.2031A>T (p.Thr677=)
n.4520A>T
c.925A>T
c.7905A>T (p.Thr2635=)
c.7875A>T (p.Thr2625=)
c.7812A>T (p.Thr2604=)
c.6810A>T (p.Thr2270=)
c.1258A>T
n.1471A>T
c.8011A>T (n.8011A>T)
c.860A>T
c.7866A>T (p.Thr2622=)
c.7842A>T (p.Thr2614=)
c.7902A>T (p.Thr2634=)
c.7782A>T (p.Thr2594=)
 dbSNP
17g.31357275C>ACA399018773NF1c.7858C>A (p.Leu2620Met)
c.2440C>A (p.Leu814Met)
c.2032C>A (p.Leu678Met)
n.4521C>A
c.926C>A
c.7906C>A (p.Leu2636Met)
c.7876C>A (p.Leu2626Met)
c.7813C>A (p.Leu2605Met)
c.6811C>A (p.Leu2271Met)
c.1259C>A
n.1472C>A
c.8012C>A (n.8012C>A)
c.861C>A
c.7867C>A (p.Leu2623Met)
c.7843C>A (p.Leu2615Met)
c.7903C>A (p.Leu2635Met)
c.7783C>A (p.Leu2595Met)
 ClinVar dbSNP
17g.31357275C=CA2255615082NF1c.7858C= (p.Leu2620=)
c.2440C= (p.Leu814=)
c.2032C= (p.Leu678=)
n.4521C=
c.926C=
c.7906C= (p.Leu2636=)
c.7876C= (p.Leu2626=)
c.7813C= (p.Leu2605=)
c.6811C= (p.Leu2271=)
c.1259C=
n.1472C=
c.8012C= (n.8012C=)
c.861C=
c.7867C= (p.Leu2623=)
c.7843C= (p.Leu2615=)
c.7903C= (p.Leu2635=)
c.7783C= (p.Leu2595=)
17g.31357275C>GCA399018775NF1c.7858C>G (p.Leu2620Val)
c.2440C>G (p.Leu814Val)
c.2032C>G (p.Leu678Val)
n.4521C>G
c.926C>G
c.7906C>G (p.Leu2636Val)
c.7876C>G (p.Leu2626Val)
c.7813C>G (p.Leu2605Val)
c.6811C>G (p.Leu2271Val)
c.1259C>G
n.1472C>G
c.8012C>G (n.8012C>G)
c.861C>G
c.7867C>G (p.Leu2623Val)
c.7843C>G (p.Leu2615Val)
c.7903C>G (p.Leu2635Val)
c.7783C>G (p.Leu2595Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31357275C>TCA499239499NF1c.7858C>T (p.Leu2620=)
c.2440C>T (p.Leu814=)
c.2032C>T (p.Leu678=)
n.4521C>T
c.926C>T
c.7906C>T (p.Leu2636=)
c.7876C>T (p.Leu2626=)
c.7813C>T (p.Leu2605=)
c.6811C>T (p.Leu2271=)
c.1259C>T
n.1472C>T
c.8012C>T (n.8012C>T)
c.861C>T
c.7867C>T (p.Leu2623=)
c.7843C>T (p.Leu2615=)
c.7903C>T (p.Leu2635=)
c.7783C>T (p.Leu2595=)
 ClinVar
17g.31357276T>ACA399203366NF1c.7859T>A (p.Leu2620Gln)
c.2441T>A (p.Leu814Gln)
c.2033T>A (p.Leu678Gln)
n.4522T>A
c.927T>A
c.7907T>A (p.Leu2636Gln)
c.7877T>A (p.Leu2626Gln)
c.7814T>A (p.Leu2605Gln)
c.6812T>A (p.Leu2271Gln)
c.1260T>A
n.1473T>A
c.8013T>A (n.8013T>A)
c.862T>A
c.7868T>A (p.Leu2623Gln)
c.7844T>A (p.Leu2615Gln)
c.7904T>A (p.Leu2635Gln)
c.7784T>A (p.Leu2595Gln)
 ClinVar dbSNP
17g.31357276T>CCA399203368NF1c.7859T>C (p.Leu2620Pro)
c.2441T>C (p.Leu814Pro)
c.2033T>C (p.Leu678Pro)
n.4522T>C
c.927T>C
c.7907T>C (p.Leu2636Pro)
c.7877T>C (p.Leu2626Pro)
c.7814T>C (p.Leu2605Pro)
c.6812T>C (p.Leu2271Pro)
c.1260T>C
n.1473T>C
c.8013T>C (n.8013T>C)
c.862T>C
c.7868T>C (p.Leu2623Pro)
c.7844T>C (p.Leu2615Pro)
c.7904T>C (p.Leu2635Pro)
c.7784T>C (p.Leu2595Pro)
17g.31357276T>GCA399203367NF1c.7859T>G (p.Leu2620Arg)
c.2441T>G (p.Leu814Arg)
c.2033T>G (p.Leu678Arg)
n.4522T>G
c.927T>G
c.7907T>G (p.Leu2636Arg)
c.7877T>G (p.Leu2626Arg)
c.7814T>G (p.Leu2605Arg)
c.6812T>G (p.Leu2271Arg)
c.1260T>G
n.1473T>G
c.8013T>G (n.8013T>G)
c.862T>G
c.7868T>G (p.Leu2623Arg)
c.7844T>G (p.Leu2615Arg)
c.7904T>G (p.Leu2635Arg)
c.7784T>G (p.Leu2595Arg)
17g.31357277G>ACA289710949NF1c.7860G>A (p.Leu2620=)
c.2442G>A (p.Leu814=)
c.2034G>A (p.Leu678=)
n.4523G>A
c.928G>A
c.7908G>A (p.Leu2636=)
c.7878G>A (p.Leu2626=)
c.7815G>A (p.Leu2605=)
c.6813G>A (p.Leu2271=)
c.1261G>A
n.1474G>A
c.8014G>A (n.8014G>A)
c.863G>A
c.7869G>A (p.Leu2623=)
c.7845G>A (p.Leu2615=)
c.7905G>A (p.Leu2635=)
c.7785G>A (p.Leu2595=)
 ClinVar dbSNP gnomAD v4
17g.31357277G>CCA499340437NF1c.7860G>C (p.Leu2620=)
c.2442G>C (p.Leu814=)
c.2034G>C (p.Leu678=)
n.4523G>C
c.928G>C
c.7908G>C (p.Leu2636=)
c.7878G>C (p.Leu2626=)
c.7815G>C (p.Leu2605=)
c.6813G>C (p.Leu2271=)
c.1261G>C
n.1474G>C
c.8014G>C (n.8014G>C)
c.863G>C
c.7869G>C (p.Leu2623=)
c.7845G>C (p.Leu2615=)
c.7905G>C (p.Leu2635=)
c.7785G>C (p.Leu2595=)
 dbSNP
17g.31357277G=CA2255615088NF1c.7860G= (p.Leu2620=)
c.2442G= (p.Leu814=)
c.2034G= (p.Leu678=)
n.4523G=
c.928G=
c.7908G= (p.Leu2636=)
c.7878G= (p.Leu2626=)
c.7815G= (p.Leu2605=)
c.6813G= (p.Leu2271=)
c.1261G=
n.1474G=
c.8014G= (n.8014G=)
c.863G=
c.7869G= (p.Leu2623=)
c.7845G= (p.Leu2615=)
c.7905G= (p.Leu2635=)
c.7785G= (p.Leu2595=)
17g.31357277G>TCA499340440NF1c.7860G>T (p.Leu2620=)
c.2442G>T (p.Leu814=)
c.2034G>T (p.Leu678=)
n.4523G>T
c.928G>T
c.7908G>T (p.Leu2636=)
c.7878G>T (p.Leu2626=)
c.7815G>T (p.Leu2605=)
c.6813G>T (p.Leu2271=)
c.1261G>T
n.1474G>T
c.8014G>T (n.8014G>T)
c.863G>T
c.7869G>T (p.Leu2623=)
c.7845G>T (p.Leu2615=)
c.7905G>T (p.Leu2635=)
c.7785G>T (p.Leu2595=)
17g.31357278G>ACA8487688NF1c.7861G>A (p.Val2621Ile)
c.2443G>A (p.Val815Ile)
c.2035G>A (p.Val679Ile)
n.4524G>A
c.929G>A
c.7909G>A (p.Val2637Ile)
c.7879G>A (p.Val2627Ile)
c.7816G>A (p.Val2606Ile)
c.6814G>A (p.Val2272Ile)
c.1262G>A
n.1475G>A
c.8015G>A (n.8015G>A)
c.864G>A
c.7870G>A (p.Val2624Ile)
c.7846G>A (p.Val2616Ile)
c.7906G>A (p.Val2636Ile)
c.7786G>A (p.Val2596Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31357278G>CCA399203369NF1c.7861G>C (p.Val2621Leu)
c.2443G>C (p.Val815Leu)
c.2035G>C (p.Val679Leu)
n.4524G>C
c.929G>C
c.7909G>C (p.Val2637Leu)
c.7879G>C (p.Val2627Leu)
c.7816G>C (p.Val2606Leu)
c.6814G>C (p.Val2272Leu)
c.1262G>C
n.1475G>C
c.8015G>C (n.8015G>C)
c.864G>C
c.7870G>C (p.Val2624Leu)
c.7846G>C (p.Val2616Leu)
c.7906G>C (p.Val2636Leu)
c.7786G>C (p.Val2596Leu)
 dbSNP
17g.31357278G=CA2255615097NF1c.7861G= (p.Val2621=)
c.2443G= (p.Val815=)
c.2035G= (p.Val679=)
n.4524G=
c.929G=
c.7909G= (p.Val2637=)
c.7879G= (p.Val2627=)
c.7816G= (p.Val2606=)
c.6814G= (p.Val2272=)
c.1262G=
n.1475G=
c.8015G= (n.8015G=)
c.864G=
c.7870G= (p.Val2624=)
c.7846G= (p.Val2616=)
c.7906G= (p.Val2636=)
c.7786G= (p.Val2596=)
17g.31357278G>TCA399203370NF1c.7861G>T (p.Val2621Leu)
c.2443G>T (p.Val815Leu)
c.2035G>T (p.Val679Leu)
n.4524G>T
c.929G>T
c.7909G>T (p.Val2637Leu)
c.7879G>T (p.Val2627Leu)
c.7816G>T (p.Val2606Leu)
c.6814G>T (p.Val2272Leu)
c.1262G>T
n.1475G>T
c.8015G>T (n.8015G>T)
c.864G>T
c.7870G>T (p.Val2624Leu)
c.7846G>T (p.Val2616Leu)
c.7906G>T (p.Val2636Leu)
c.7786G>T (p.Val2596Leu)
17g.31357279delCA2697559592NF1c.7862del (p.Val2621GlufsTer17)
c.2444del (p.Val815GlufsTer17)
c.2036del (p.Val679GlufsTer17)
n.4525del
c.930del
c.7910del (p.Val2637GlufsTer17)
c.7880del (p.Val2627GlufsTer17)
c.7817del (p.Val2606GlufsTer17)
c.6815del (p.Val2272GlufsTer17)
c.1263del
n.1476del
c.8016del (n.8016del)
c.865del
c.7871del (p.Val2624GlufsTer17)
c.7847del (p.Val2616GlufsTer17)
c.7907del (p.Val2636GlufsTer17)
c.7787del (p.Val2596GlufsTer17)
 ClinVar
17g.31357279T>ACA399203371NF1c.7862T>A (p.Val2621Glu)
c.2444T>A (p.Val815Glu)
c.2036T>A (p.Val679Glu)
n.4525T>A
c.930T>A
c.7910T>A (p.Val2637Glu)
c.7880T>A (p.Val2627Glu)
c.7817T>A (p.Val2606Glu)
c.6815T>A (p.Val2272Glu)
c.1263T>A
n.1476T>A
c.8016T>A (n.8016T>A)
c.865T>A
c.7871T>A (p.Val2624Glu)
c.7847T>A (p.Val2616Glu)
c.7907T>A (p.Val2636Glu)
c.7787T>A (p.Val2596Glu)
17g.31357279T>CCA399203372NF1c.7862T>C (p.Val2621Ala)
c.2444T>C (p.Val815Ala)
c.2036T>C (p.Val679Ala)
n.4525T>C
c.930T>C
c.7910T>C (p.Val2637Ala)
c.7880T>C (p.Val2627Ala)
c.7817T>C (p.Val2606Ala)
c.6815T>C (p.Val2272Ala)
c.1263T>C
n.1476T>C
c.8016T>C (n.8016T>C)
c.865T>C
c.7871T>C (p.Val2624Ala)
c.7847T>C (p.Val2616Ala)
c.7907T>C (p.Val2636Ala)
c.7787T>C (p.Val2596Ala)
17g.31357279T>GCA399203373NF1c.7862T>G (p.Val2621Gly)
c.2444T>G (p.Val815Gly)
c.2036T>G (p.Val679Gly)
n.4525T>G
c.930T>G
c.7910T>G (p.Val2637Gly)
c.7880T>G (p.Val2627Gly)
c.7817T>G (p.Val2606Gly)
c.6815T>G (p.Val2272Gly)
c.1263T>G
n.1476T>G
c.8016T>G (n.8016T>G)
c.865T>G
c.7871T>G (p.Val2624Gly)
c.7847T>G (p.Val2616Gly)
c.7907T>G (p.Val2636Gly)
c.7787T>G (p.Val2596Gly)
17g.31357279dupCA2580093467NF1c.7862dup (p.Tyr2623IlefsTer5)
c.2444dup (p.Tyr817IlefsTer5)
c.2036dup (p.Tyr681IlefsTer5)
n.4525dup
c.930dup
c.7910dup (p.Tyr2639IlefsTer5)
c.7880dup (p.Tyr2629IlefsTer5)
c.7817dup (p.Tyr2608IlefsTer5)
c.6815dup (p.Tyr2274IlefsTer5)
c.1263dup
n.1476dup
c.8016dup (n.8016dup)
c.865dup
c.7871dup (p.Tyr2626IlefsTer5)
c.7847dup (p.Tyr2618IlefsTer5)
c.7907dup (p.Tyr2638IlefsTer5)
c.7787dup (p.Tyr2598IlefsTer5)
 ClinVar
17g.31357280A=CA2255615104NF1c.7863A= (p.Val2621=)
c.2445A= (p.Val815=)
c.2037A= (p.Val679=)
n.4526A=
c.931A=
c.7911A= (p.Val2637=)
c.7881A= (p.Val2627=)
c.7818A= (p.Val2606=)
c.6816A= (p.Val2272=)
c.1264A=
n.1477A=
c.8017A= (n.8017A=)
c.866A=
c.7872A= (p.Val2624=)
c.7848A= (p.Val2616=)
c.7908A= (p.Val2636=)
c.7788A= (p.Val2596=)
17g.31357280A>CCA499340481NF1c.7863A>C (p.Val2621=)
c.2445A>C (p.Val815=)
c.2037A>C (p.Val679=)
n.4526A>C
c.931A>C
c.7911A>C (p.Val2637=)
c.7881A>C (p.Val2627=)
c.7818A>C (p.Val2606=)
c.6816A>C (p.Val2272=)
c.1264A>C
n.1477A>C
c.8017A>C (n.8017A>C)
c.866A>C
c.7872A>C (p.Val2624=)
c.7848A>C (p.Val2616=)
c.7908A>C (p.Val2636=)
c.7788A>C (p.Val2596=)
17g.31357280A>GCA8487689NF1c.7863A>G (p.Val2621=)
c.2445A>G (p.Val815=)
c.2037A>G (p.Val679=)
n.4526A>G
c.931A>G
c.7911A>G (p.Val2637=)
c.7881A>G (p.Val2627=)
c.7818A>G (p.Val2606=)
c.6816A>G (p.Val2272=)
c.1264A>G
n.1477A>G
c.8017A>G (n.8017A>G)
c.866A>G
c.7872A>G (p.Val2624=)
c.7848A>G (p.Val2616=)
c.7908A>G (p.Val2636=)
c.7788A>G (p.Val2596=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31357280A>TCA499340497NF1c.7863A>T (p.Val2621=)
c.2445A>T (p.Val815=)
c.2037A>T (p.Val679=)
n.4526A>T
c.931A>T
c.7911A>T (p.Val2637=)
c.7881A>T (p.Val2627=)
c.7818A>T (p.Val2606=)
c.6816A>T (p.Val2272=)
c.1264A>T
n.1477A>T
c.8017A>T (n.8017A>T)
c.866A>T
c.7872A>T (p.Val2624=)
c.7848A>T (p.Val2616=)
c.7908A>T (p.Val2636=)
c.7788A>T (p.Val2596=)
17g.31357282_31357283dupCA2825002487NF1c.7865_7866dup (p.Tyr2623AsnfsTer16)
c.2447_2448dup (p.Tyr817AsnfsTer16)
c.2039_2040dup (p.Tyr681AsnfsTer16)
n.4528_4529dup
c.933_934dup
c.7913_7914dup (p.Tyr2639AsnfsTer16)
c.7883_7884dup (p.Tyr2629AsnfsTer16)
c.7820_7821dup (p.Tyr2608AsnfsTer16)
c.6818_6819dup (p.Tyr2274AsnfsTer16)
c.1266_1267dup
n.1479_1480dup
c.8019_8020dup (n.8019_8020dup)
c.868_869dup
c.7874_7875dup (p.Tyr2626AsnfsTer16)
c.7850_7851dup (p.Tyr2618AsnfsTer16)
c.7910_7911dup (p.Tyr2638AsnfsTer16)
c.7790_7791dup (p.Tyr2598AsnfsTer16)
 ClinVar
17g.31357281A>CCA399203374NF1c.7864A>C (p.Lys2622Gln)
c.2446A>C (p.Lys816Gln)
c.2038A>C (p.Lys680Gln)
n.4527A>C
c.932A>C
c.7912A>C (p.Lys2638Gln)
c.7882A>C (p.Lys2628Gln)
c.7819A>C (p.Lys2607Gln)
c.6817A>C (p.Lys2273Gln)
c.1265A>C
n.1478A>C
c.8018A>C (n.8018A>C)
c.867A>C
c.7873A>C (p.Lys2625Gln)
c.7849A>C (p.Lys2617Gln)
c.7909A>C (p.Lys2637Gln)
c.7789A>C (p.Lys2597Gln)
17g.31357281A>GCA399203375NF1c.7864A>G (p.Lys2622Glu)
c.2446A>G (p.Lys816Glu)
c.2038A>G (p.Lys680Glu)
n.4527A>G
c.932A>G
c.7912A>G (p.Lys2638Glu)
c.7882A>G (p.Lys2628Glu)
c.7819A>G (p.Lys2607Glu)
c.6817A>G (p.Lys2273Glu)
c.1265A>G
n.1478A>G
c.8018A>G (n.8018A>G)
c.867A>G
c.7873A>G (p.Lys2625Glu)
c.7849A>G (p.Lys2617Glu)
c.7909A>G (p.Lys2637Glu)
c.7789A>G (p.Lys2597Glu)
17g.31357281A>TCA399203376NF1c.7864A>T (p.Lys2622Ter)
c.2446A>T (p.Lys816Ter)
c.2038A>T (p.Lys680Ter)
n.4527A>T
c.932A>T
c.7912A>T (p.Lys2638Ter)
c.7882A>T (p.Lys2628Ter)
c.7819A>T (p.Lys2607Ter)
c.6817A>T (p.Lys2273Ter)
c.1265A>T
n.1478A>T
c.8018A>T (n.8018A>T)
c.867A>T
c.7873A>T (p.Lys2625Ter)
c.7849A>T (p.Lys2617Ter)
c.7909A>T (p.Lys2637Ter)
c.7789A>T (p.Lys2597Ter)
17g.31357282A>CCA399203379NF1c.7865A>C (p.Lys2622Thr)
c.2447A>C (p.Lys816Thr)
c.2039A>C (p.Lys680Thr)
n.4528A>C
c.933A>C
c.7913A>C (p.Lys2638Thr)
c.7883A>C (p.Lys2628Thr)
c.7820A>C (p.Lys2607Thr)
c.6818A>C (p.Lys2273Thr)
c.1266A>C
n.1479A>C
c.8019A>C (n.8019A>C)
c.868A>C
c.7874A>C (p.Lys2625Thr)
c.7850A>C (p.Lys2617Thr)
c.7910A>C (p.Lys2637Thr)
c.7790A>C (p.Lys2597Thr)
17g.31357282A>GCA399203378NF1c.7865A>G (p.Lys2622Arg)
c.2447A>G (p.Lys816Arg)
c.2039A>G (p.Lys680Arg)
n.4528A>G
c.933A>G
c.7913A>G (p.Lys2638Arg)
c.7883A>G (p.Lys2628Arg)
c.7820A>G (p.Lys2607Arg)
c.6818A>G (p.Lys2273Arg)
c.1266A>G
n.1479A>G
c.8019A>G (n.8019A>G)
c.868A>G
c.7874A>G (p.Lys2625Arg)
c.7850A>G (p.Lys2617Arg)
c.7910A>G (p.Lys2637Arg)
c.7790A>G (p.Lys2597Arg)
 dbSNP
17g.31357282A>TCA399203377NF1c.7865A>T (p.Lys2622Ile)
c.2447A>T (p.Lys816Ile)
c.2039A>T (p.Lys680Ile)
n.4528A>T
c.933A>T
c.7913A>T (p.Lys2638Ile)
c.7883A>T (p.Lys2628Ile)
c.7820A>T (p.Lys2607Ile)
c.6818A>T (p.Lys2273Ile)
c.1266A>T
n.1479A>T
c.8019A>T (n.8019A>T)
c.868A>T
c.7874A>T (p.Lys2625Ile)
c.7850A>T (p.Lys2617Ile)
c.7910A>T (p.Lys2637Ile)
c.7790A>T (p.Lys2597Ile)
17g.31357283A>CCA399203380NF1c.7866A>C (p.Lys2622Asn)
c.2448A>C (p.Lys816Asn)
c.2040A>C (p.Lys680Asn)
n.4529A>C
c.934A>C
c.7914A>C (p.Lys2638Asn)
c.7884A>C (p.Lys2628Asn)
c.7821A>C (p.Lys2607Asn)
c.6819A>C (p.Lys2273Asn)
c.1267A>C
n.1480A>C
c.8020A>C (n.8020A>C)
c.869A>C
c.7875A>C (p.Lys2625Asn)
c.7851A>C (p.Lys2617Asn)
c.7911A>C (p.Lys2637Asn)
c.7791A>C (p.Lys2597Asn)
17g.31357283A>GCA499340522NF1c.7866A>G (p.Lys2622=)
c.2448A>G (p.Lys816=)
c.2040A>G (p.Lys680=)
n.4529A>G
c.934A>G
c.7914A>G (p.Lys2638=)
c.7884A>G (p.Lys2628=)
c.7821A>G (p.Lys2607=)
c.6819A>G (p.Lys2273=)
c.1267A>G
n.1480A>G
c.8020A>G (n.8020A>G)
c.869A>G
c.7875A>G (p.Lys2625=)
c.7851A>G (p.Lys2617=)
c.7911A>G (p.Lys2637=)
c.7791A>G (p.Lys2597=)
17g.31357283A>TCA399203381NF1c.7866A>T (p.Lys2622Asn)
c.2448A>T (p.Lys816Asn)
c.2040A>T (p.Lys680Asn)
n.4529A>T
c.934A>T
c.7914A>T (p.Lys2638Asn)
c.7884A>T (p.Lys2628Asn)
c.7821A>T (p.Lys2607Asn)
c.6819A>T (p.Lys2273Asn)
c.1267A>T
n.1480A>T
c.8020A>T (n.8020A>T)
c.869A>T
c.7875A>T (p.Lys2625Asn)
c.7851A>T (p.Lys2617Asn)
c.7911A>T (p.Lys2637Asn)
c.7791A>T (p.Lys2597Asn)
17g.31357286_31357287delCA2695225539NF1c.7869_7870del (p.Thr2624HisfsTer3)
c.2451_2452del (p.Thr818HisfsTer3)
c.2043_2044del (p.Thr682HisfsTer3)
n.4532_4533del
c.937_938del
c.7917_7918del (p.Thr2640HisfsTer3)
c.7887_7888del (p.Thr2630HisfsTer3)
c.7824_7825del (p.Thr2609HisfsTer3)
c.6822_6823del (p.Thr2275HisfsTer3)
c.1270_1271del
n.1483_1484del
c.8023_8024del (n.8023_8024del)
c.872_873del
c.7878_7879del (p.Thr2627HisfsTer3)
c.7854_7855del (p.Thr2619HisfsTer3)
c.7914_7915del (p.Thr2639HisfsTer3)
c.7794_7795del (p.Thr2599HisfsTer3)
17g.31357284delCA2733612471NF1c.7867del (p.Tyr2623IlefsTer15)
c.2449del (p.Tyr817IlefsTer15)
c.2041del (p.Tyr681IlefsTer15)
n.4530del
c.935del
c.7915del (p.Tyr2639IlefsTer15)
c.7885del (p.Tyr2629IlefsTer15)
c.7822del (p.Tyr2608IlefsTer15)
c.6820del (p.Tyr2274IlefsTer15)
c.1268del
n.1481del
c.8021del (n.8021del)
c.870del
c.7876del (p.Tyr2626IlefsTer15)
c.7852del (p.Tyr2618IlefsTer15)
c.7912del (p.Tyr2638IlefsTer15)
c.7792del (p.Tyr2598IlefsTer15)
 dbSNP
17g.31357284T>ACA399203382NF1c.7867T>A (p.Tyr2623Asn)
c.2449T>A (p.Tyr817Asn)
c.2041T>A (p.Tyr681Asn)
n.4530T>A
c.935T>A
c.7915T>A (p.Tyr2639Asn)
c.7885T>A (p.Tyr2629Asn)
c.7822T>A (p.Tyr2608Asn)
c.6820T>A (p.Tyr2274Asn)
c.1268T>A
n.1481T>A
c.8021T>A (n.8021T>A)
c.870T>A
c.7876T>A (p.Tyr2626Asn)
c.7852T>A (p.Tyr2618Asn)
c.7912T>A (p.Tyr2638Asn)
c.7792T>A (p.Tyr2598Asn)
 dbSNP
17g.31357284T>CCA399203383NF1c.7867T>C (p.Tyr2623His)
c.2449T>C (p.Tyr817His)
c.2041T>C (p.Tyr681His)
n.4530T>C
c.935T>C
c.7915T>C (p.Tyr2639His)
c.7885T>C (p.Tyr2629His)
c.7822T>C (p.Tyr2608His)
c.6820T>C (p.Tyr2274His)
c.1268T>C
n.1481T>C
c.8021T>C (n.8021T>C)
c.870T>C
c.7876T>C (p.Tyr2626His)
c.7852T>C (p.Tyr2618His)
c.7912T>C (p.Tyr2638His)
c.7792T>C (p.Tyr2598His)
 dbSNP
17g.31357284T>GCA399203384NF1c.7867T>G (p.Tyr2623Asp)
c.2449T>G (p.Tyr817Asp)
c.2041T>G (p.Tyr681Asp)
n.4530T>G
c.935T>G
c.7915T>G (p.Tyr2639Asp)
c.7885T>G (p.Tyr2629Asp)
c.7822T>G (p.Tyr2608Asp)
c.6820T>G (p.Tyr2274Asp)
c.1268T>G
n.1481T>G
c.8021T>G (n.8021T>G)
c.870T>G
c.7876T>G (p.Tyr2626Asp)
c.7852T>G (p.Tyr2618Asp)
c.7912T>G (p.Tyr2638Asp)
c.7792T>G (p.Tyr2598Asp)
17g.31357285A>CCA399203385NF1c.7868A>C (p.Tyr2623Ser)
c.2450A>C (p.Tyr817Ser)
c.2042A>C (p.Tyr681Ser)
n.4531A>C
c.936A>C
c.7916A>C (p.Tyr2639Ser)
c.7886A>C (p.Tyr2629Ser)
c.7823A>C (p.Tyr2608Ser)
c.6821A>C (p.Tyr2274Ser)
c.1269A>C
n.1482A>C
c.8022A>C (n.8022A>C)
c.871A>C
c.7877A>C (p.Tyr2626Ser)
c.7853A>C (p.Tyr2618Ser)
c.7913A>C (p.Tyr2638Ser)
c.7793A>C (p.Tyr2598Ser)
 dbSNP
17g.31357285A>GCA399203386NF1c.7868A>G (p.Tyr2623Cys)
c.2450A>G (p.Tyr817Cys)
c.2042A>G (p.Tyr681Cys)
n.4531A>G
c.936A>G
c.7916A>G (p.Tyr2639Cys)
c.7886A>G (p.Tyr2629Cys)
c.7823A>G (p.Tyr2608Cys)
c.6821A>G (p.Tyr2274Cys)
c.1269A>G
n.1482A>G
c.8022A>G (n.8022A>G)
c.871A>G
c.7877A>G (p.Tyr2626Cys)
c.7853A>G (p.Tyr2618Cys)
c.7913A>G (p.Tyr2638Cys)
c.7793A>G (p.Tyr2598Cys)
 dbSNP
17g.31357285A>TCA399203387NF1c.7868A>T (p.Tyr2623Phe)
c.2450A>T (p.Tyr817Phe)
c.2042A>T (p.Tyr681Phe)
n.4531A>T
c.936A>T
c.7916A>T (p.Tyr2639Phe)
c.7886A>T (p.Tyr2629Phe)
c.7823A>T (p.Tyr2608Phe)
c.6821A>T (p.Tyr2274Phe)
c.1269A>T
n.1482A>T
c.8022A>T (n.8022A>T)
c.871A>T
c.7877A>T (p.Tyr2626Phe)
c.7853A>T (p.Tyr2618Phe)
c.7913A>T (p.Tyr2638Phe)
c.7793A>T (p.Tyr2598Phe)
17g.31357286T>ACA399203388NF1c.7869T>A (p.Tyr2623Ter)
c.2451T>A (p.Tyr817Ter)
c.2043T>A (p.Tyr681Ter)
n.4532T>A
c.937T>A
c.7917T>A (p.Tyr2639Ter)
c.7887T>A (p.Tyr2629Ter)
c.7824T>A (p.Tyr2608Ter)
c.6822T>A (p.Tyr2274Ter)
c.1270T>A
n.1483T>A
c.8023T>A (n.8023T>A)
c.872T>A
c.7878T>A (p.Tyr2626Ter)
c.7854T>A (p.Tyr2618Ter)
c.7914T>A (p.Tyr2638Ter)
c.7794T>A (p.Tyr2598Ter)
 dbSNP
17g.31357286T>CCA8487690NF1c.7869T>C (p.Tyr2623=)
c.2451T>C (p.Tyr817=)
c.2043T>C (p.Tyr681=)
n.4532T>C
c.937T>C
c.7917T>C (p.Tyr2639=)
c.7887T>C (p.Tyr2629=)
c.7824T>C (p.Tyr2608=)
c.6822T>C (p.Tyr2274=)
c.1270T>C
n.1483T>C
c.8023T>C (n.8023T>C)
c.872T>C
c.7878T>C (p.Tyr2626=)
c.7854T>C (p.Tyr2618=)
c.7914T>C (p.Tyr2638=)
c.7794T>C (p.Tyr2598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357286T>GCA399203389NF1c.7869T>G (p.Tyr2623Ter)
c.2451T>G (p.Tyr817Ter)
c.2043T>G (p.Tyr681Ter)
n.4532T>G
c.937T>G
c.7917T>G (p.Tyr2639Ter)
c.7887T>G (p.Tyr2629Ter)
c.7824T>G (p.Tyr2608Ter)
c.6822T>G (p.Tyr2274Ter)
c.1270T>G
n.1483T>G
c.8023T>G (n.8023T>G)
c.872T>G
c.7878T>G (p.Tyr2626Ter)
c.7854T>G (p.Tyr2618Ter)
c.7914T>G (p.Tyr2638Ter)
c.7794T>G (p.Tyr2598Ter)
17g.31357286T=CA2255615114NF1c.7869T= (p.Tyr2623=)
c.2451T= (p.Tyr817=)
c.2043T= (p.Tyr681=)
n.4532T=
c.937T=
c.7917T= (p.Tyr2639=)
c.7887T= (p.Tyr2629=)
c.7824T= (p.Tyr2608=)
c.6822T= (p.Tyr2274=)
c.1270T=
n.1483T=
c.8023T= (n.8023T=)
c.872T=
c.7878T= (p.Tyr2626=)
c.7854T= (p.Tyr2618=)
c.7914T= (p.Tyr2638=)
c.7794T= (p.Tyr2598=)
17g.31357287A=CA2255615119NF1c.7870A= (p.Thr2624=)
c.2452A= (p.Thr818=)
c.2044A= (p.Thr682=)
n.4533A=
c.938A=
c.7918A= (p.Thr2640=)
c.7888A= (p.Thr2630=)
c.7825A= (p.Thr2609=)
c.6823A= (p.Thr2275=)
c.1271A=
n.1484A=
c.8024A= (n.8024A=)
c.873A=
c.7879A= (p.Thr2627=)
c.7855A= (p.Thr2619=)
c.7915A= (p.Thr2639=)
c.7795A= (p.Thr2599=)
17g.31357287A>CCA399203391NF1c.7870A>C (p.Thr2624Pro)
c.2452A>C (p.Thr818Pro)
c.2044A>C (p.Thr682Pro)
n.4533A>C
c.938A>C
c.7918A>C (p.Thr2640Pro)
c.7888A>C (p.Thr2630Pro)
c.7825A>C (p.Thr2609Pro)
c.6823A>C (p.Thr2275Pro)
c.1271A>C
n.1484A>C
c.8024A>C (n.8024A>C)
c.873A>C
c.7879A>C (p.Thr2627Pro)
c.7855A>C (p.Thr2619Pro)
c.7915A>C (p.Thr2639Pro)
c.7795A>C (p.Thr2599Pro)
17g.31357287A>GCA399203392NF1c.7870A>G (p.Thr2624Ala)
c.2452A>G (p.Thr818Ala)
c.2044A>G (p.Thr682Ala)
n.4533A>G
c.938A>G
c.7918A>G (p.Thr2640Ala)
c.7888A>G (p.Thr2630Ala)
c.7825A>G (p.Thr2609Ala)
c.6823A>G (p.Thr2275Ala)
c.1271A>G
n.1484A>G
c.8024A>G (n.8024A>G)
c.873A>G
c.7879A>G (p.Thr2627Ala)
c.7855A>G (p.Thr2619Ala)
c.7915A>G (p.Thr2639Ala)
c.7795A>G (p.Thr2599Ala)
 ClinVar dbSNP
17g.31357287A>TCA399203390NF1c.7870A>T (p.Thr2624Ser)
c.2452A>T (p.Thr818Ser)
c.2044A>T (p.Thr682Ser)
n.4533A>T
c.938A>T
c.7918A>T (p.Thr2640Ser)
c.7888A>T (p.Thr2630Ser)
c.7825A>T (p.Thr2609Ser)
c.6823A>T (p.Thr2275Ser)
c.1271A>T
n.1484A>T
c.8024A>T (n.8024A>T)
c.873A>T
c.7879A>T (p.Thr2627Ser)
c.7855A>T (p.Thr2619Ser)
c.7915A>T (p.Thr2639Ser)
c.7795A>T (p.Thr2599Ser)
17g.31357288C>ACA399203393NF1c.7871C>A (p.Thr2624Asn)
c.2453C>A (p.Thr818Asn)
c.2045C>A (p.Thr682Asn)
n.4534C>A
c.939C>A
c.7919C>A (p.Thr2640Asn)
c.7889C>A (p.Thr2630Asn)
c.7826C>A (p.Thr2609Asn)
c.6824C>A (p.Thr2275Asn)
c.1272C>A
n.1485C>A
c.8025C>A (n.8025C>A)
c.874C>A
c.7880C>A (p.Thr2627Asn)
c.7856C>A (p.Thr2619Asn)
c.7916C>A (p.Thr2639Asn)
c.7796C>A (p.Thr2599Asn)
 dbSNP
17g.31357288C=CA2255615128NF1c.7871C= (p.Thr2624=)
c.2453C= (p.Thr818=)
c.2045C= (p.Thr682=)
n.4534C=
c.939C=
c.7919C= (p.Thr2640=)
c.7889C= (p.Thr2630=)
c.7826C= (p.Thr2609=)
c.6824C= (p.Thr2275=)
c.1272C=
n.1485C=
c.8025C= (n.8025C=)
c.874C=
c.7880C= (p.Thr2627=)
c.7856C= (p.Thr2619=)
c.7916C= (p.Thr2639=)
c.7796C= (p.Thr2599=)
17g.31357288C>GCA399203394NF1c.7871C>G (p.Thr2624Ser)
c.2453C>G (p.Thr818Ser)
c.2045C>G (p.Thr682Ser)
n.4534C>G
c.939C>G
c.7919C>G (p.Thr2640Ser)
c.7889C>G (p.Thr2630Ser)
c.7826C>G (p.Thr2609Ser)
c.6824C>G (p.Thr2275Ser)
c.1272C>G
n.1485C>G
c.8025C>G (n.8025C>G)
c.874C>G
c.7880C>G (p.Thr2627Ser)
c.7856C>G (p.Thr2619Ser)
c.7916C>G (p.Thr2639Ser)
c.7796C>G (p.Thr2599Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31357288C>TCA399203395NF1c.7871C>T (p.Thr2624Ile)
c.2453C>T (p.Thr818Ile)
c.2045C>T (p.Thr682Ile)
n.4534C>T
c.939C>T
c.7919C>T (p.Thr2640Ile)
c.7889C>T (p.Thr2630Ile)
c.7826C>T (p.Thr2609Ile)
c.6824C>T (p.Thr2275Ile)
c.1272C>T
n.1485C>T
c.8025C>T (n.8025C>T)
c.874C>T
c.7880C>T (p.Thr2627Ile)
c.7856C>T (p.Thr2619Ile)
c.7916C>T (p.Thr2639Ile)
c.7796C>T (p.Thr2599Ile)
 ClinVar dbSNP gnomAD v4
17g.31357289C>ACA499340564NF1c.7872C>A (p.Thr2624=)
c.2454C>A (p.Thr818=)
c.2046C>A (p.Thr682=)
n.4535C>A
c.940C>A
c.7920C>A (p.Thr2640=)
c.7890C>A (p.Thr2630=)
c.7827C>A (p.Thr2609=)
c.6825C>A (p.Thr2275=)
c.1273C>A
n.1486C>A
c.8026C>A (n.8026C>A)
c.875C>A
c.7881C>A (p.Thr2627=)
c.7857C>A (p.Thr2619=)
c.7917C>A (p.Thr2639=)
c.7797C>A (p.Thr2599=)
17g.31357289C>GCA499340567NF1c.7872C>G (p.Thr2624=)
c.2454C>G (p.Thr818=)
c.2046C>G (p.Thr682=)
n.4535C>G
c.940C>G
c.7920C>G (p.Thr2640=)
c.7890C>G (p.Thr2630=)
c.7827C>G (p.Thr2609=)
c.6825C>G (p.Thr2275=)
c.1273C>G
n.1486C>G
c.8026C>G (n.8026C>G)
c.875C>G
c.7881C>G (p.Thr2627=)
c.7857C>G (p.Thr2619=)
c.7917C>G (p.Thr2639=)
c.7797C>G (p.Thr2599=)
17g.31357289C>TCA499340570NF1c.7872C>T (p.Thr2624=)
c.2454C>T (p.Thr818=)
c.2046C>T (p.Thr682=)
n.4535C>T
c.940C>T
c.7920C>T (p.Thr2640=)
c.7890C>T (p.Thr2630=)
c.7827C>T (p.Thr2609=)
c.6825C>T (p.Thr2275=)
c.1273C>T
n.1486C>T
c.8026C>T (n.8026C>T)
c.875C>T
c.7881C>T (p.Thr2627=)
c.7857C>T (p.Thr2619=)
c.7917C>T (p.Thr2639=)
c.7797C>T (p.Thr2599=)
 ClinVar dbSNP
17g.31357290A=CA2255615141NF1c.7873A= (p.Thr2625=)
c.2455A= (p.Thr819=)
c.2047A= (p.Thr683=)
n.4536A=
c.941A=
c.7921A= (p.Thr2641=)
c.7891A= (p.Thr2631=)
c.7828A= (p.Thr2610=)
c.6826A= (p.Thr2276=)
c.1274A=
n.1487A=
c.8027A= (n.8027A=)
c.876A=
c.7882A= (p.Thr2628=)
c.7858A= (p.Thr2620=)
c.7918A= (p.Thr2640=)
c.7798A= (p.Thr2600=)
17g.31357290A>CCA399203396NF1c.7873A>C (p.Thr2625Pro)
c.2455A>C (p.Thr819Pro)
c.2047A>C (p.Thr683Pro)
n.4536A>C
c.941A>C
c.7921A>C (p.Thr2641Pro)
c.7891A>C (p.Thr2631Pro)
c.7828A>C (p.Thr2610Pro)
c.6826A>C (p.Thr2276Pro)
c.1274A>C
n.1487A>C
c.8027A>C (n.8027A>C)
c.876A>C
c.7882A>C (p.Thr2628Pro)
c.7858A>C (p.Thr2620Pro)
c.7918A>C (p.Thr2640Pro)
c.7798A>C (p.Thr2600Pro)
 dbSNP
17g.31357290A>GCA219639NF1c.7873A>G (p.Thr2625Ala)
c.2455A>G (p.Thr819Ala)
c.2047A>G (p.Thr683Ala)
n.4536A>G
c.941A>G
c.7921A>G (p.Thr2641Ala)
c.7891A>G (p.Thr2631Ala)
c.7828A>G (p.Thr2610Ala)
c.6826A>G (p.Thr2276Ala)
c.1274A>G
n.1487A>G
c.8027A>G (n.8027A>G)
c.876A>G
c.7882A>G (p.Thr2628Ala)
c.7858A>G (p.Thr2620Ala)
c.7918A>G (p.Thr2640Ala)
c.7798A>G (p.Thr2600Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31357290A>TCA399203397NF1c.7873A>T (p.Thr2625Ser)
c.2455A>T (p.Thr819Ser)
c.2047A>T (p.Thr683Ser)
n.4536A>T
c.941A>T
c.7921A>T (p.Thr2641Ser)
c.7891A>T (p.Thr2631Ser)
c.7828A>T (p.Thr2610Ser)
c.6826A>T (p.Thr2276Ser)
c.1274A>T
n.1487A>T
c.8027A>T (n.8027A>T)
c.876A>T
c.7882A>T (p.Thr2628Ser)
c.7858A>T (p.Thr2620Ser)
c.7918A>T (p.Thr2640Ser)
c.7798A>T (p.Thr2600Ser)
 dbSNP
17g.31357291C>ACA399203398NF1c.7874C>A (p.Thr2625Lys)
c.2456C>A (p.Thr819Lys)
c.2048C>A (p.Thr683Lys)
n.4537C>A
c.942C>A
c.7922C>A (p.Thr2641Lys)
c.7892C>A (p.Thr2631Lys)
c.7829C>A (p.Thr2610Lys)
c.6827C>A (p.Thr2276Lys)
c.1275C>A
n.1488C>A
c.8028C>A (n.8028C>A)
c.877C>A
c.7883C>A (p.Thr2628Lys)
c.7859C>A (p.Thr2620Lys)
c.7919C>A (p.Thr2640Lys)
c.7799C>A (p.Thr2600Lys)
 dbSNP
17g.31357291C>GCA399203399NF1c.7874C>G (p.Thr2625Arg)
c.2456C>G (p.Thr819Arg)
c.2048C>G (p.Thr683Arg)
n.4537C>G
c.942C>G
c.7922C>G (p.Thr2641Arg)
c.7892C>G (p.Thr2631Arg)
c.7829C>G (p.Thr2610Arg)
c.6827C>G (p.Thr2276Arg)
c.1275C>G
n.1488C>G
c.8028C>G (n.8028C>G)
c.877C>G
c.7883C>G (p.Thr2628Arg)
c.7859C>G (p.Thr2620Arg)
c.7919C>G (p.Thr2640Arg)
c.7799C>G (p.Thr2600Arg)
 dbSNP
17g.31357291C>TCA399203400NF1c.7874C>T (p.Thr2625Ile)
c.2456C>T (p.Thr819Ile)
c.2048C>T (p.Thr683Ile)
n.4537C>T
c.942C>T
c.7922C>T (p.Thr2641Ile)
c.7892C>T (p.Thr2631Ile)
c.7829C>T (p.Thr2610Ile)
c.6827C>T (p.Thr2276Ile)
c.1275C>T
n.1488C>T
c.8028C>T (n.8028C>T)
c.877C>T
c.7883C>T (p.Thr2628Ile)
c.7859C>T (p.Thr2620Ile)
c.7919C>T (p.Thr2640Ile)
c.7799C>T (p.Thr2600Ile)
 dbSNP
17g.31357292A=CA2255615147NF1c.7875A= (p.Thr2625=)
c.2457A= (p.Thr819=)
c.2049A= (p.Thr683=)
n.4538A=
c.943A=
c.7923A= (p.Thr2641=)
c.7893A= (p.Thr2631=)
c.7830A= (p.Thr2610=)
c.6828A= (p.Thr2276=)
c.1276A=
n.1489A=
c.8029A= (n.8029A=)
c.878A=
c.7884A= (p.Thr2628=)
c.7860A= (p.Thr2620=)
c.7920A= (p.Thr2640=)
c.7800A= (p.Thr2600=)
17g.31357292A>CCA499340592NF1c.7875A>C (p.Thr2625=)
c.2457A>C (p.Thr819=)
c.2049A>C (p.Thr683=)
n.4538A>C
c.943A>C
c.7923A>C (p.Thr2641=)
c.7893A>C (p.Thr2631=)
c.7830A>C (p.Thr2610=)
c.6828A>C (p.Thr2276=)
c.1276A>C
n.1489A>C
c.8029A>C (n.8029A>C)
c.878A>C
c.7884A>C (p.Thr2628=)
c.7860A>C (p.Thr2620=)
c.7920A>C (p.Thr2640=)
c.7800A>C (p.Thr2600=)
 ClinVar
17g.31357292A>GCA289710950NF1c.7875A>G (p.Thr2625=)
c.2457A>G (p.Thr819=)
c.2049A>G (p.Thr683=)
n.4538A>G
c.943A>G
c.7923A>G (p.Thr2641=)
c.7893A>G (p.Thr2631=)
c.7830A>G (p.Thr2610=)
c.6828A>G (p.Thr2276=)
c.1276A>G
n.1489A>G
c.8029A>G (n.8029A>G)
c.878A>G
c.7884A>G (p.Thr2628=)
c.7860A>G (p.Thr2620=)
c.7920A>G (p.Thr2640=)
c.7800A>G (p.Thr2600=)
 ClinVar dbSNP
17g.31357292A>TCA499340598NF1c.7875A>T (p.Thr2625=)
c.2457A>T (p.Thr819=)
c.2049A>T (p.Thr683=)
n.4538A>T
c.943A>T
c.7923A>T (p.Thr2641=)
c.7893A>T (p.Thr2631=)
c.7830A>T (p.Thr2610=)
c.6828A>T (p.Thr2276=)
c.1276A>T
n.1489A>T
c.8029A>T (n.8029A>T)
c.878A>T
c.7884A>T (p.Thr2628=)
c.7860A>T (p.Thr2620=)
c.7920A>T (p.Thr2640=)
c.7800A>T (p.Thr2600=)
17g.31357293_31357294delCA2695201309NF1c.7876_7877del (p.Asp2626Ter)
c.2458_2459del (p.Asp820Ter)
c.2050_2051del (p.Asp684Ter)
n.4539_4540del
c.944_945del
c.7924_7925del (p.Asp2642Ter)
c.7894_7895del (p.Asp2632Ter)
c.7831_7832del (p.Asp2611Ter)
c.6829_6830del (p.Asp2277Ter)
c.1277_1278del
n.1490_1491del
c.8030_8031del (n.8030_8031del)
c.879_880del
c.7885_7886del (p.Asp2629Ter)
c.7861_7862del (p.Asp2621Ter)
c.7921_7922del (p.Asp2641Ter)
c.7801_7802del (p.Asp2601Ter)
 ClinVar
17g.31357293G>ACA399203401NF1c.7876G>A (p.Asp2626Asn)
c.2458G>A (p.Asp820Asn)
c.2050G>A (p.Asp684Asn)
n.4539G>A
c.944G>A
c.7924G>A (p.Asp2642Asn)
c.7894G>A (p.Asp2632Asn)
c.7831G>A (p.Asp2611Asn)
c.6829G>A (p.Asp2277Asn)
c.1277G>A
n.1490G>A
c.8030G>A (n.8030G>A)
c.879G>A
c.7885G>A (p.Asp2629Asn)
c.7861G>A (p.Asp2621Asn)
c.7921G>A (p.Asp2641Asn)
c.7801G>A (p.Asp2601Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.31357293G>CCA399203402NF1c.7876G>C (p.Asp2626His)
c.2458G>C (p.Asp820His)
c.2050G>C (p.Asp684His)
n.4539G>C
c.944G>C
c.7924G>C (p.Asp2642His)
c.7894G>C (p.Asp2632His)
c.7831G>C (p.Asp2611His)
c.6829G>C (p.Asp2277His)
c.1277G>C
n.1490G>C
c.8030G>C (n.8030G>C)
c.879G>C
c.7885G>C (p.Asp2629His)
c.7861G>C (p.Asp2621His)
c.7921G>C (p.Asp2641His)
c.7801G>C (p.Asp2601His)
 dbSNP
17g.31357293G=CA2255615151NF1c.7876G= (p.Asp2626=)
c.2458G= (p.Asp820=)
c.2050G= (p.Asp684=)
n.4539G=
c.944G=
c.7924G= (p.Asp2642=)
c.7894G= (p.Asp2632=)
c.7831G= (p.Asp2611=)
c.6829G= (p.Asp2277=)
c.1277G=
n.1490G=
c.8030G= (n.8030G=)
c.879G=
c.7885G= (p.Asp2629=)
c.7861G= (p.Asp2621=)
c.7921G= (p.Asp2641=)
c.7801G= (p.Asp2601=)
17g.31357293G>TCA399203403NF1c.7876G>T (p.Asp2626Tyr)
c.2458G>T (p.Asp820Tyr)
c.2050G>T (p.Asp684Tyr)
n.4539G>T
c.944G>T
c.7924G>T (p.Asp2642Tyr)
c.7894G>T (p.Asp2632Tyr)
c.7831G>T (p.Asp2611Tyr)
c.6829G>T (p.Asp2277Tyr)
c.1277G>T
n.1490G>T
c.8030G>T (n.8030G>T)
c.879G>T
c.7885G>T (p.Asp2629Tyr)
c.7861G>T (p.Asp2621Tyr)
c.7921G>T (p.Asp2641Tyr)
c.7801G>T (p.Asp2601Tyr)
17g.31357294delCA2499224245NF1c.7877del (p.Asp2626ValfsTer12)
c.2459del (p.Asp820ValfsTer12)
c.2051del (p.Asp684ValfsTer12)
n.4540del
c.945del
c.7925del (p.Asp2642ValfsTer12)
c.7895del (p.Asp2632ValfsTer12)
c.7832del (p.Asp2611ValfsTer12)
c.6830del (p.Asp2277ValfsTer12)
c.1278del
n.1491del
c.8031del (n.8031del)
c.880del
c.7886del (p.Asp2629ValfsTer12)
c.7862del (p.Asp2621ValfsTer12)
c.7922del (p.Asp2641ValfsTer12)
c.7802del (p.Asp2601ValfsTer12)
 ClinVar dbSNP
17g.31357294A=CA2255615158NF1c.7877A= (p.Asp2626=)
c.2459A= (p.Asp820=)
c.2051A= (p.Asp684=)
n.4540A=
c.945A=
c.7925A= (p.Asp2642=)
c.7895A= (p.Asp2632=)
c.7832A= (p.Asp2611=)
c.6830A= (p.Asp2277=)
c.1278A=
n.1491A=
c.8031A= (n.8031A=)
c.880A=
c.7886A= (p.Asp2629=)
c.7862A= (p.Asp2621=)
c.7922A= (p.Asp2641=)
c.7802A= (p.Asp2601=)
17g.31357294A>CCA399203405NF1c.7877A>C (p.Asp2626Ala)
c.2459A>C (p.Asp820Ala)
c.2051A>C (p.Asp684Ala)
n.4540A>C
c.945A>C
c.7925A>C (p.Asp2642Ala)
c.7895A>C (p.Asp2632Ala)
c.7832A>C (p.Asp2611Ala)
c.6830A>C (p.Asp2277Ala)
c.1278A>C
n.1491A>C
c.8031A>C (n.8031A>C)
c.880A>C
c.7886A>C (p.Asp2629Ala)
c.7862A>C (p.Asp2621Ala)
c.7922A>C (p.Asp2641Ala)
c.7802A>C (p.Asp2601Ala)
17g.31357294A>GCA399203406NF1c.7877A>G (p.Asp2626Gly)
c.2459A>G (p.Asp820Gly)
c.2051A>G (p.Asp684Gly)
n.4540A>G
c.945A>G
c.7925A>G (p.Asp2642Gly)
c.7895A>G (p.Asp2632Gly)
c.7832A>G (p.Asp2611Gly)
c.6830A>G (p.Asp2277Gly)
c.1278A>G
n.1491A>G
c.8031A>G (n.8031A>G)
c.880A>G
c.7886A>G (p.Asp2629Gly)
c.7862A>G (p.Asp2621Gly)
c.7922A>G (p.Asp2641Gly)
c.7802A>G (p.Asp2601Gly)
 ClinVar dbSNP COSMIC
17g.31357294A>TCA399203404NF1c.7877A>T (p.Asp2626Val)
c.2459A>T (p.Asp820Val)
c.2051A>T (p.Asp684Val)
n.4540A>T
c.945A>T
c.7925A>T (p.Asp2642Val)
c.7895A>T (p.Asp2632Val)
c.7832A>T (p.Asp2611Val)
c.6830A>T (p.Asp2277Val)
c.1278A>T
n.1491A>T
c.8031A>T (n.8031A>T)
c.880A>T
c.7886A>T (p.Asp2629Val)
c.7862A>T (p.Asp2621Val)
c.7922A>T (p.Asp2641Val)
c.7802A>T (p.Asp2601Val)
 COSMIC COSMIC
17g.31357295T>ACA399203407NF1c.7878T>A (p.Asp2626Glu)
c.2460T>A (p.Asp820Glu)
c.2052T>A (p.Asp684Glu)
n.4541T>A
c.946T>A
c.7926T>A (p.Asp2642Glu)
c.7896T>A (p.Asp2632Glu)
c.7833T>A (p.Asp2611Glu)
c.6831T>A (p.Asp2277Glu)
c.1279T>A
n.1492T>A
c.8032T>A (n.8032T>A)
c.881T>A
c.7887T>A (p.Asp2629Glu)
c.7863T>A (p.Asp2621Glu)
c.7923T>A (p.Asp2641Glu)
c.7803T>A (p.Asp2601Glu)
 ClinVar dbSNP
17g.31357295T>CCA499340640NF1c.7878T>C (p.Asp2626=)
c.2460T>C (p.Asp820=)
c.2052T>C (p.Asp684=)
n.4541T>C
c.946T>C
c.7926T>C (p.Asp2642=)
c.7896T>C (p.Asp2632=)
c.7833T>C (p.Asp2611=)
c.6831T>C (p.Asp2277=)
c.1279T>C
n.1492T>C
c.8032T>C (n.8032T>C)
c.881T>C
c.7887T>C (p.Asp2629=)
c.7863T>C (p.Asp2621=)
c.7923T>C (p.Asp2641=)
c.7803T>C (p.Asp2601=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31357295T>GCA399203408NF1c.7878T>G (p.Asp2626Glu)
c.2460T>G (p.Asp820Glu)
c.2052T>G (p.Asp684Glu)
n.4541T>G
c.946T>G
c.7926T>G (p.Asp2642Glu)
c.7896T>G (p.Asp2632Glu)
c.7833T>G (p.Asp2611Glu)
c.6831T>G (p.Asp2277Glu)
c.1279T>G
n.1492T>G
c.8032T>G (n.8032T>G)
c.881T>G
c.7887T>G (p.Asp2629Glu)
c.7863T>G (p.Asp2621Glu)
c.7923T>G (p.Asp2641Glu)
c.7803T>G (p.Asp2601Glu)
17g.31357295T=CA2255615173NF1c.7878T= (p.Asp2626=)
c.2460T= (p.Asp820=)
c.2052T= (p.Asp684=)
n.4541T=
c.946T=
c.7926T= (p.Asp2642=)
c.7896T= (p.Asp2632=)
c.7833T= (p.Asp2611=)
c.6831T= (p.Asp2277=)
c.1279T=
n.1492T=
c.8032T= (n.8032T=)
c.881T=
c.7887T= (p.Asp2629=)
c.7863T= (p.Asp2621=)
c.7923T= (p.Asp2641=)
c.7803T= (p.Asp2601=)
17g.31357295_31357296delinsGTCA645572282NF1c.7878_7879delinsGT (p.Asp2626GlufsTer2)
c.2460_2461delinsGT (p.Asp820GlufsTer2)
c.2052_2053delinsGT (p.Asp684GlufsTer2)
n.4541_4542delinsGT
c.946_947delinsGT
c.7926_7927delinsGT (p.Asp2642GlufsTer2)
c.7896_7897delinsGT (p.Asp2632GlufsTer2)
c.7833_7834delinsGT (p.Asp2611GlufsTer2)
c.6831_6832delinsGT (p.Asp2277GlufsTer2)
c.1279_1280delinsGT
n.1492_1493delinsGT
c.8032_8033delinsGT (n.8032_8033delinsGT)
c.881_882delinsGT
c.7887_7888delinsGT (p.Asp2629GlufsTer2)
c.7863_7864delinsGT (p.Asp2621GlufsTer2)
c.7923_7924delinsGT (p.Asp2641GlufsTer2)
c.7803_7804delinsGT (p.Asp2601GlufsTer2)
 COSMIC
17g.31357296G>ACA8487691NF1c.7879G>A (p.Glu2627Lys)
c.2461G>A (p.Glu821Lys)
c.2053G>A (p.Glu685Lys)
n.4542G>A
c.947G>A
c.7927G>A (p.Glu2643Lys)
c.7897G>A (p.Glu2633Lys)
c.7834G>A (p.Glu2612Lys)
c.6832G>A (p.Glu2278Lys)
c.1280G>A
n.1493G>A
c.8033G>A (n.8033G>A)
c.882G>A
c.7888G>A (p.Glu2630Lys)
c.7864G>A (p.Glu2622Lys)
c.7924G>A (p.Glu2642Lys)
c.7804G>A (p.Glu2602Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357296G>CCA399203409NF1c.7879G>C (p.Glu2627Gln)
c.2461G>C (p.Glu821Gln)
c.2053G>C (p.Glu685Gln)
n.4542G>C
c.947G>C
c.7927G>C (p.Glu2643Gln)
c.7897G>C (p.Glu2633Gln)
c.7834G>C (p.Glu2612Gln)
c.6832G>C (p.Glu2278Gln)
c.1280G>C
n.1493G>C
c.8033G>C (n.8033G>C)
c.882G>C
c.7888G>C (p.Glu2630Gln)
c.7864G>C (p.Glu2622Gln)
c.7924G>C (p.Glu2642Gln)
c.7804G>C (p.Glu2602Gln)
 dbSNP
17g.31357296G=CA2255615181NF1c.7879G= (p.Glu2627=)
c.2461G= (p.Glu821=)
c.2053G= (p.Glu685=)
n.4542G=
c.947G=
c.7927G= (p.Glu2643=)
c.7897G= (p.Glu2633=)
c.7834G= (p.Glu2612=)
c.6832G= (p.Glu2278=)
c.1280G=
n.1493G=
c.8033G= (n.8033G=)
c.882G=
c.7888G= (p.Glu2630=)
c.7864G= (p.Glu2622=)
c.7924G= (p.Glu2642=)
c.7804G= (p.Glu2602=)
17g.31357296G>TCA399203410NF1c.7879G>T (p.Glu2627Ter)
c.2461G>T (p.Glu821Ter)
c.2053G>T (p.Glu685Ter)
n.4542G>T
c.947G>T
c.7927G>T (p.Glu2643Ter)
c.7897G>T (p.Glu2633Ter)
c.7834G>T (p.Glu2612Ter)
c.6832G>T (p.Glu2278Ter)
c.1280G>T
n.1493G>T
c.8033G>T (n.8033G>T)
c.882G>T
c.7888G>T (p.Glu2630Ter)
c.7864G>T (p.Glu2622Ter)
c.7924G>T (p.Glu2642Ter)
c.7804G>T (p.Glu2602Ter)
 ClinVar dbSNP gnomAD v4
17g.31357296dupCA2499224246NF1c.7879dup (p.Glu2627GlyfsTer3)
c.2461dup (p.Glu821GlyfsTer3)
c.2053dup (p.Glu685GlyfsTer3)
n.4542dup
c.947dup
c.7927dup (p.Glu2643GlyfsTer3)
c.7897dup (p.Glu2633GlyfsTer3)
c.7834dup (p.Glu2612GlyfsTer3)
c.6832dup (p.Glu2278GlyfsTer3)
c.1280dup
n.1493dup
c.8033dup (n.8033dup)
c.882dup
c.7888dup (p.Glu2630GlyfsTer3)
c.7864dup (p.Glu2622GlyfsTer3)
c.7924dup (p.Glu2642GlyfsTer3)
c.7804dup (p.Glu2602GlyfsTer3)
 ClinVar dbSNP
17g.31357296_31357297delinsGACA2255615185NF1c.7879_7880delinsGA (p.Glu2627=)
c.2461_2462delinsGA (p.Glu821=)
c.2053_2054delinsGA (p.Glu685=)
n.4542_4543delinsGA
c.947_948delinsGA
c.7927_7928delinsGA (p.Glu2643=)
c.7897_7898delinsGA (p.Glu2633=)
c.7834_7835delinsGA (p.Glu2612=)
c.6832_6833delinsGA (p.Glu2278=)
c.1280_1281delinsGA
n.1493_1494delinsGA
c.8033_8034delinsGA (n.8033_8034delinsGA)
c.882_883delinsGA
c.7888_7889delinsGA (p.Glu2630=)
c.7864_7865delinsGA (p.Glu2622=)
c.7924_7925delinsGA (p.Glu2642=)
c.7804_7805delinsGA (p.Glu2602=)
17g.31357297delCA915949911NF1c.7880del (p.Glu2627GlyfsTer11)
c.2462del (p.Glu821GlyfsTer11)
c.2054del (p.Glu685GlyfsTer11)
n.4543del
c.948del
c.7928del (p.Glu2643GlyfsTer11)
c.7898del (p.Glu2633GlyfsTer11)
c.7835del (p.Glu2612GlyfsTer11)
c.6833del (p.Glu2278GlyfsTer11)
c.1281del
n.1494del
c.8034del (n.8034del)
c.883del
c.7889del (p.Glu2630GlyfsTer11)
c.7865del (p.Glu2622GlyfsTer11)
c.7925del (p.Glu2642GlyfsTer11)
c.7805del (p.Glu2602GlyfsTer11)
 ClinVar dbSNP
17g.31357297A>CCA399203413NF1c.7880A>C (p.Glu2627Ala)
c.2462A>C (p.Glu821Ala)
c.2054A>C (p.Glu685Ala)
n.4543A>C
c.948A>C
c.7928A>C (p.Glu2643Ala)
c.7898A>C (p.Glu2633Ala)
c.7835A>C (p.Glu2612Ala)
c.6833A>C (p.Glu2278Ala)
c.1281A>C
n.1494A>C
c.8034A>C (n.8034A>C)
c.883A>C
c.7889A>C (p.Glu2630Ala)
c.7865A>C (p.Glu2622Ala)
c.7925A>C (p.Glu2642Ala)
c.7805A>C (p.Glu2602Ala)
17g.31357297A>GCA399203411NF1c.7880A>G (p.Glu2627Gly)
c.2462A>G (p.Glu821Gly)
c.2054A>G (p.Glu685Gly)
n.4543A>G
c.948A>G
c.7928A>G (p.Glu2643Gly)
c.7898A>G (p.Glu2633Gly)
c.7835A>G (p.Glu2612Gly)
c.6833A>G (p.Glu2278Gly)
c.1281A>G
n.1494A>G
c.8034A>G (n.8034A>G)
c.883A>G
c.7889A>G (p.Glu2630Gly)
c.7865A>G (p.Glu2622Gly)
c.7925A>G (p.Glu2642Gly)
c.7805A>G (p.Glu2602Gly)
17g.31357297A>TCA399203412NF1c.7880A>T (p.Glu2627Val)
c.2462A>T (p.Glu821Val)
c.2054A>T (p.Glu685Val)
n.4543A>T
c.948A>T
c.7928A>T (p.Glu2643Val)
c.7898A>T (p.Glu2633Val)
c.7835A>T (p.Glu2612Val)
c.6833A>T (p.Glu2278Val)
c.1281A>T
n.1494A>T
c.8034A>T (n.8034A>T)
c.883A>T
c.7889A>T (p.Glu2630Val)
c.7865A>T (p.Glu2622Val)
c.7925A>T (p.Glu2642Val)
c.7805A>T (p.Glu2602Val)
 ClinVar dbSNP
17g.31357298G>ACA499340666NF1c.7881G>A (p.Glu2627=)
c.2463G>A (p.Glu821=)
c.2055G>A (p.Glu685=)
n.4544G>A
c.949G>A
c.7929G>A (p.Glu2643=)
c.7899G>A (p.Glu2633=)
c.7836G>A (p.Glu2612=)
c.6834G>A (p.Glu2278=)
c.1282G>A
n.1495G>A
c.8035G>A (n.8035G>A)
c.884G>A
c.7890G>A (p.Glu2630=)
c.7866G>A (p.Glu2622=)
c.7926G>A (p.Glu2642=)
c.7806G>A (p.Glu2602=)
 ClinVar dbSNP gnomAD v4
17g.31357298G>CCA399203414NF1c.7881G>C (p.Glu2627Asp)
c.2463G>C (p.Glu821Asp)
c.2055G>C (p.Glu685Asp)
n.4544G>C
c.949G>C
c.7929G>C (p.Glu2643Asp)
c.7899G>C (p.Glu2633Asp)
c.7836G>C (p.Glu2612Asp)
c.6834G>C (p.Glu2278Asp)
c.1282G>C
n.1495G>C
c.8035G>C (n.8035G>C)
c.884G>C
c.7890G>C (p.Glu2630Asp)
c.7866G>C (p.Glu2622Asp)
c.7926G>C (p.Glu2642Asp)
c.7806G>C (p.Glu2602Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.31357298G=CA2255615194NF1c.7881G= (p.Glu2627=)
c.2463G= (p.Glu821=)
c.2055G= (p.Glu685=)
n.4544G=
c.949G=
c.7929G= (p.Glu2643=)
c.7899G= (p.Glu2633=)
c.7836G= (p.Glu2612=)
c.6834G= (p.Glu2278=)
c.1282G=
n.1495G=
c.8035G= (n.8035G=)
c.884G=
c.7890G= (p.Glu2630=)
c.7866G= (p.Glu2622=)
c.7926G= (p.Glu2642=)
c.7806G= (p.Glu2602=)
17g.31357298G>TCA399203415NF1c.7881G>T (p.Glu2627Asp)
c.2463G>T (p.Glu821Asp)
c.2055G>T (p.Glu685Asp)
n.4544G>T
c.949G>T
c.7929G>T (p.Glu2643Asp)
c.7899G>T (p.Glu2633Asp)
c.7836G>T (p.Glu2612Asp)
c.6834G>T (p.Glu2278Asp)
c.1282G>T
n.1495G>T
c.8035G>T (n.8035G>T)
c.884G>T
c.7890G>T (p.Glu2630Asp)
c.7866G>T (p.Glu2622Asp)
c.7926G>T (p.Glu2642Asp)
c.7806G>T (p.Glu2602Asp)
 dbSNP
17g.31357299T>ACA399203416NF1c.7882T>A (p.Phe2628Ile)
c.2464T>A (p.Phe822Ile)
c.2056T>A (p.Phe686Ile)
n.4545T>A
c.950T>A
c.7930T>A (p.Phe2644Ile)
c.7900T>A (p.Phe2634Ile)
c.7837T>A (p.Phe2613Ile)
c.6835T>A (p.Phe2279Ile)
c.1283T>A
n.1496T>A
c.8036T>A (n.8036T>A)
c.885T>A
c.7891T>A (p.Phe2631Ile)
c.7867T>A (p.Phe2623Ile)
c.7927T>A (p.Phe2643Ile)
c.7807T>A (p.Phe2603Ile)
 dbSNP
17g.31357299T>CCA399203417NF1c.7882T>C (p.Phe2628Leu)
c.2464T>C (p.Phe822Leu)
c.2056T>C (p.Phe686Leu)
n.4545T>C
c.950T>C
c.7930T>C (p.Phe2644Leu)
c.7900T>C (p.Phe2634Leu)
c.7837T>C (p.Phe2613Leu)
c.6835T>C (p.Phe2279Leu)
c.1283T>C
n.1496T>C
c.8036T>C (n.8036T>C)
c.885T>C
c.7891T>C (p.Phe2631Leu)
c.7867T>C (p.Phe2623Leu)
c.7927T>C (p.Phe2643Leu)
c.7807T>C (p.Phe2603Leu)
17g.31357299T>GCA399203418NF1c.7882T>G (p.Phe2628Val)
c.2464T>G (p.Phe822Val)
c.2056T>G (p.Phe686Val)
n.4545T>G
c.950T>G
c.7930T>G (p.Phe2644Val)
c.7900T>G (p.Phe2634Val)
c.7837T>G (p.Phe2613Val)
c.6835T>G (p.Phe2279Val)
c.1283T>G
n.1496T>G
c.8036T>G (n.8036T>G)
c.885T>G
c.7891T>G (p.Phe2631Val)
c.7867T>G (p.Phe2623Val)
c.7927T>G (p.Phe2643Val)
c.7807T>G (p.Phe2603Val)
17g.31357301_31357313delCA2637086166NF1c.7884_7896del (p.Asp2629PhefsTer5)
c.2466_2478del (p.Asp823PhefsTer5)
c.2058_2070del (p.Asp687PhefsTer5)
n.4547_4559del
c.952_964del
c.7932_7944del (p.Asp2645PhefsTer5)
c.7902_7914del (p.Asp2635PhefsTer5)
c.7839_7851del (p.Asp2614PhefsTer5)
c.6837_6849del (p.Asp2280PhefsTer5)
c.1285_1297del
n.1498_1510del
c.8038_8050del (n.8038_8050del)
c.887_899del
c.7893_7905del (p.Asp2632PhefsTer5)
c.7869_7881del (p.Asp2624PhefsTer5)
c.7929_7941del (p.Asp2644PhefsTer5)
c.7809_7821del (p.Asp2604PhefsTer5)
 gnomAD v4
17g.31357300_31357323delCA645572283NF1c.7883_7906del (p.Phe2628_Glu2635del)
c.2465_2488del (p.Phe822_Glu829del)
c.2057_2080del (p.Phe686_Glu693del)
n.4546_4569del
c.951_974del
c.7931_7954del (p.Phe2644_Glu2651del)
c.7901_7924del (p.Phe2634_Glu2641del)
c.7838_7861del (p.Phe2613_Glu2620del)
c.6836_6859del (p.Phe2279_Glu2286del)
c.1284_1307del
n.1497_1520del
c.8037_8060del (n.8037_8060del)
c.886_909del
c.7892_7915del (p.Phe2631_Glu2638del)
c.7868_7891del (p.Phe2623_Glu2630del)
c.7928_7951del (p.Phe2643_Glu2650del)
c.7808_7831del (p.Phe2603_Glu2610del)
 COSMIC
17g.31357300T>ACA399203420NF1c.7883T>A (p.Phe2628Tyr)
c.2465T>A (p.Phe822Tyr)
c.2057T>A (p.Phe686Tyr)
n.4546T>A
c.951T>A
c.7931T>A (p.Phe2644Tyr)
c.7901T>A (p.Phe2634Tyr)
c.7838T>A (p.Phe2613Tyr)
c.6836T>A (p.Phe2279Tyr)
c.1284T>A
n.1497T>A
c.8037T>A (n.8037T>A)
c.886T>A
c.7892T>A (p.Phe2631Tyr)
c.7868T>A (p.Phe2623Tyr)
c.7928T>A (p.Phe2643Tyr)
c.7808T>A (p.Phe2603Tyr)
 dbSNP
17g.31357300T>CCA8487692NF1c.7883T>C (p.Phe2628Ser)
c.2465T>C (p.Phe822Ser)
c.2057T>C (p.Phe686Ser)
n.4546T>C
c.951T>C
c.7931T>C (p.Phe2644Ser)
c.7901T>C (p.Phe2634Ser)
c.7838T>C (p.Phe2613Ser)
c.6836T>C (p.Phe2279Ser)
c.1284T>C
n.1497T>C
c.8037T>C (n.8037T>C)
c.886T>C
c.7892T>C (p.Phe2631Ser)
c.7868T>C (p.Phe2623Ser)
c.7928T>C (p.Phe2643Ser)
c.7808T>C (p.Phe2603Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31357300T>GCA399203419NF1c.7883T>G (p.Phe2628Cys)
c.2465T>G (p.Phe822Cys)
c.2057T>G (p.Phe686Cys)
n.4546T>G
c.951T>G
c.7931T>G (p.Phe2644Cys)
c.7901T>G (p.Phe2634Cys)
c.7838T>G (p.Phe2613Cys)
c.6836T>G (p.Phe2279Cys)
c.1284T>G
n.1497T>G
c.8037T>G (n.8037T>G)
c.886T>G
c.7892T>G (p.Phe2631Cys)
c.7868T>G (p.Phe2623Cys)
c.7928T>G (p.Phe2643Cys)
c.7808T>G (p.Phe2603Cys)
17g.31357300T=CA2255615198NF1c.7883T= (p.Phe2628=)
c.2465T= (p.Phe822=)
c.2057T= (p.Phe686=)
n.4546T=
c.951T=
c.7931T= (p.Phe2644=)
c.7901T= (p.Phe2634=)
c.7838T= (p.Phe2613=)
c.6836T= (p.Phe2279=)
c.1284T=
n.1497T=
c.8037T= (n.8037T=)
c.886T=
c.7892T= (p.Phe2631=)
c.7868T= (p.Phe2623=)
c.7928T= (p.Phe2643=)
c.7808T= (p.Phe2603=)
17g.31357301T>ACA399203421NF1c.7884T>A (p.Phe2628Leu)
c.2466T>A (p.Phe822Leu)
c.2058T>A (p.Phe686Leu)
n.4547T>A
c.952T>A
c.7932T>A (p.Phe2644Leu)
c.7902T>A (p.Phe2634Leu)
c.7839T>A (p.Phe2613Leu)
c.6837T>A (p.Phe2279Leu)
c.1285T>A
n.1498T>A
c.8038T>A (n.8038T>A)
c.887T>A
c.7893T>A (p.Phe2631Leu)
c.7869T>A (p.Phe2623Leu)
c.7929T>A (p.Phe2643Leu)
c.7809T>A (p.Phe2603Leu)
 ClinVar dbSNP
17g.31357301T>CCA499340682NF1c.7884T>C (p.Phe2628=)
c.2466T>C (p.Phe822=)
c.2058T>C (p.Phe686=)
n.4547T>C
c.952T>C
c.7932T>C (p.Phe2644=)
c.7902T>C (p.Phe2634=)
c.7839T>C (p.Phe2613=)
c.6837T>C (p.Phe2279=)
c.1285T>C
n.1498T>C
c.8038T>C (n.8038T>C)
c.887T>C
c.7893T>C (p.Phe2631=)
c.7869T>C (p.Phe2623=)
c.7929T>C (p.Phe2643=)
c.7809T>C (p.Phe2603=)
 dbSNP
17g.31357301T>GCA399203422NF1c.7884T>G (p.Phe2628Leu)
c.2466T>G (p.Phe822Leu)
c.2058T>G (p.Phe686Leu)
n.4547T>G
c.952T>G
c.7932T>G (p.Phe2644Leu)
c.7902T>G (p.Phe2634Leu)
c.7839T>G (p.Phe2613Leu)
c.6837T>G (p.Phe2279Leu)
c.1285T>G
n.1498T>G
c.8038T>G (n.8038T>G)
c.887T>G
c.7893T>G (p.Phe2631Leu)
c.7869T>G (p.Phe2623Leu)
c.7929T>G (p.Phe2643Leu)
c.7809T>G (p.Phe2603Leu)
17g.31357302G>ACA399203423NF1c.7885G>A (p.Asp2629Asn)
c.2467G>A (p.Asp823Asn)
c.2059G>A (p.Asp687Asn)
n.4548G>A
c.953G>A
c.7933G>A (p.Asp2645Asn)
c.7903G>A (p.Asp2635Asn)
c.7840G>A (p.Asp2614Asn)
c.6838G>A (p.Asp2280Asn)
c.1286G>A
n.1499G>A
c.8039G>A (n.8039G>A)
c.888G>A
c.7894G>A (p.Asp2632Asn)
c.7870G>A (p.Asp2624Asn)
c.7930G>A (p.Asp2644Asn)
c.7810G>A (p.Asp2604Asn)
 ClinVar dbSNP
17g.31357302G>CCA399203425NF1c.7885G>C (p.Asp2629His)
c.2467G>C (p.Asp823His)
c.2059G>C (p.Asp687His)
n.4548G>C
c.953G>C
c.7933G>C (p.Asp2645His)
c.7903G>C (p.Asp2635His)
c.7840G>C (p.Asp2614His)
c.6838G>C (p.Asp2280His)
c.1286G>C
n.1499G>C
c.8039G>C (n.8039G>C)
c.888G>C
c.7894G>C (p.Asp2632His)
c.7870G>C (p.Asp2624His)
c.7930G>C (p.Asp2644His)
c.7810G>C (p.Asp2604His)
 dbSNP
17g.31357302G>TCA399203424NF1c.7885G>T (p.Asp2629Tyr)
c.2467G>T (p.Asp823Tyr)
c.2059G>T (p.Asp687Tyr)
n.4548G>T
c.953G>T
c.7933G>T (p.Asp2645Tyr)
c.7903G>T (p.Asp2635Tyr)
c.7840G>T (p.Asp2614Tyr)
c.6838G>T (p.Asp2280Tyr)
c.1286G>T
n.1499G>T
c.8039G>T (n.8039G>T)
c.888G>T
c.7894G>T (p.Asp2632Tyr)
c.7870G>T (p.Asp2624Tyr)
c.7930G>T (p.Asp2644Tyr)
c.7810G>T (p.Asp2604Tyr)
17g.31357303A=CA2255615204NF1c.7886A= (p.Asp2629=)
c.2468A= (p.Asp823=)
c.2060A= (p.Asp687=)
n.4549A=
c.954A=
c.7934A= (p.Asp2645=)
c.7904A= (p.Asp2635=)
c.7841A= (p.Asp2614=)
c.6839A= (p.Asp2280=)
c.1287A=
n.1500A=
c.8040A= (n.8040A=)
c.889A=
c.7895A= (p.Asp2632=)
c.7871A= (p.Asp2624=)
c.7931A= (p.Asp2644=)
c.7811A= (p.Asp2604=)
17g.31357303A>CCA399203426NF1c.7886A>C (p.Asp2629Ala)
c.2468A>C (p.Asp823Ala)
c.2060A>C (p.Asp687Ala)
n.4549A>C
c.954A>C
c.7934A>C (p.Asp2645Ala)
c.7904A>C (p.Asp2635Ala)
c.7841A>C (p.Asp2614Ala)
c.6839A>C (p.Asp2280Ala)
c.1287A>C
n.1500A>C
c.8040A>C (n.8040A>C)
c.889A>C
c.7895A>C (p.Asp2632Ala)
c.7871A>C (p.Asp2624Ala)
c.7931A>C (p.Asp2644Ala)
c.7811A>C (p.Asp2604Ala)
17g.31357303A>GCA399203427NF1c.7886A>G (p.Asp2629Gly)
c.2468A>G (p.Asp823Gly)
c.2060A>G (p.Asp687Gly)
n.4549A>G
c.954A>G
c.7934A>G (p.Asp2645Gly)
c.7904A>G (p.Asp2635Gly)
c.7841A>G (p.Asp2614Gly)
c.6839A>G (p.Asp2280Gly)
c.1287A>G
n.1500A>G
c.8040A>G (n.8040A>G)
c.889A>G
c.7895A>G (p.Asp2632Gly)
c.7871A>G (p.Asp2624Gly)
c.7931A>G (p.Asp2644Gly)
c.7811A>G (p.Asp2604Gly)
17g.31357303A>TCA399203428NF1c.7886A>T (p.Asp2629Val)
c.2468A>T (p.Asp823Val)
c.2060A>T (p.Asp687Val)
n.4549A>T
c.954A>T
c.7934A>T (p.Asp2645Val)
c.7904A>T (p.Asp2635Val)
c.7841A>T (p.Asp2614Val)
c.6839A>T (p.Asp2280Val)
c.1287A>T
n.1500A>T
c.8040A>T (n.8040A>T)
c.889A>T
c.7895A>T (p.Asp2632Val)
c.7871A>T (p.Asp2624Val)
c.7931A>T (p.Asp2644Val)
c.7811A>T (p.Asp2604Val)
 ClinVar dbSNP
17g.31357304T>ACA399203429NF1c.7887T>A (p.Asp2629Glu)
c.2469T>A (p.Asp823Glu)
c.2061T>A (p.Asp687Glu)
n.4550T>A
c.955T>A
c.7935T>A (p.Asp2645Glu)
c.7905T>A (p.Asp2635Glu)
c.7842T>A (p.Asp2614Glu)
c.6840T>A (p.Asp2280Glu)
c.1288T>A
n.1501T>A
c.8041T>A (n.8041T>A)
c.890T>A
c.7896T>A (p.Asp2632Glu)
c.7872T>A (p.Asp2624Glu)
c.7932T>A (p.Asp2644Glu)
c.7812T>A (p.Asp2604Glu)
 ClinVar dbSNP
17g.31357304T>CCA499340696NF1c.7887T>C (p.Asp2629=)
c.2469T>C (p.Asp823=)
c.2061T>C (p.Asp687=)
n.4550T>C
c.955T>C
c.7935T>C (p.Asp2645=)
c.7905T>C (p.Asp2635=)
c.7842T>C (p.Asp2614=)
c.6840T>C (p.Asp2280=)
c.1288T>C
n.1501T>C
c.8041T>C (n.8041T>C)
c.890T>C
c.7896T>C (p.Asp2632=)
c.7872T>C (p.Asp2624=)
c.7932T>C (p.Asp2644=)
c.7812T>C (p.Asp2604=)
17g.31357304T>GCA399203430NF1c.7887T>G (p.Asp2629Glu)
c.2469T>G (p.Asp823Glu)
c.2061T>G (p.Asp687Glu)
n.4550T>G
c.955T>G
c.7935T>G (p.Asp2645Glu)
c.7905T>G (p.Asp2635Glu)
c.7842T>G (p.Asp2614Glu)
c.6840T>G (p.Asp2280Glu)
c.1288T>G
n.1501T>G
c.8041T>G (n.8041T>G)
c.890T>G
c.7896T>G (p.Asp2632Glu)
c.7872T>G (p.Asp2624Glu)
c.7932T>G (p.Asp2644Glu)
c.7812T>G (p.Asp2604Glu)
 ClinVar
17g.31357305_31357317delCA645572284NF1c.7888_7900del (p.Gln2630MetfsTer4)
c.2470_2482del (p.Gln824MetfsTer4)
c.2062_2074del (p.Gln688MetfsTer4)
n.4551_4563del
c.956_968del
c.7936_7948del (p.Gln2646MetfsTer4)
c.7906_7918del (p.Gln2636MetfsTer4)
c.7843_7855del (p.Gln2615MetfsTer4)
c.6841_6853del (p.Gln2281MetfsTer4)
c.1289_1301del
n.1502_1514del
c.8042_8054del (n.8042_8054del)
c.891_903del
c.7897_7909del (p.Gln2633MetfsTer4)
c.7873_7885del (p.Gln2625MetfsTer4)
c.7933_7945del (p.Gln2645MetfsTer4)
c.7813_7825del (p.Gln2605MetfsTer4)
 COSMIC
17g.31357305C>ACA399203431NF1c.7888C>A (p.Gln2630Lys)
c.2470C>A (p.Gln824Lys)
c.2062C>A (p.Gln688Lys)
n.4551C>A
c.956C>A
c.7936C>A (p.Gln2646Lys)
c.7906C>A (p.Gln2636Lys)
c.7843C>A (p.Gln2615Lys)
c.6841C>A (p.Gln2281Lys)
c.1289C>A
n.1502C>A
c.8042C>A (n.8042C>A)
c.891C>A
c.7897C>A (p.Gln2633Lys)
c.7873C>A (p.Gln2625Lys)
c.7933C>A (p.Gln2645Lys)
c.7813C>A (p.Gln2605Lys)
 dbSNP
17g.31357305C=CA2255615207NF1c.7888C= (p.Gln2630=)
c.2470C= (p.Gln824=)
c.2062C= (p.Gln688=)
n.4551C=
c.956C=
c.7936C= (p.Gln2646=)
c.7906C= (p.Gln2636=)
c.7843C= (p.Gln2615=)
c.6841C= (p.Gln2281=)
c.1289C=
n.1502C=
c.8042C= (n.8042C=)
c.891C=
c.7897C= (p.Gln2633=)
c.7873C= (p.Gln2625=)
c.7933C= (p.Gln2645=)
c.7813C= (p.Gln2605=)
17g.31357305C>GCA399203432NF1c.7888C>G (p.Gln2630Glu)
c.2470C>G (p.Gln824Glu)
c.2062C>G (p.Gln688Glu)
n.4551C>G
c.956C>G
c.7936C>G (p.Gln2646Glu)
c.7906C>G (p.Gln2636Glu)
c.7843C>G (p.Gln2615Glu)
c.6841C>G (p.Gln2281Glu)
c.1289C>G
n.1502C>G
c.8042C>G (n.8042C>G)
c.891C>G
c.7897C>G (p.Gln2633Glu)
c.7873C>G (p.Gln2625Glu)
c.7933C>G (p.Gln2645Glu)
c.7813C>G (p.Gln2605Glu)
 ClinVar dbSNP
17g.31357305C>TCA289710951NF1c.7888C>T (p.Gln2630Ter)
c.2470C>T (p.Gln824Ter)
c.2062C>T (p.Gln688Ter)
n.4551C>T
c.956C>T
c.7936C>T (p.Gln2646Ter)
c.7906C>T (p.Gln2636Ter)
c.7843C>T (p.Gln2615Ter)
c.6841C>T (p.Gln2281Ter)
c.1289C>T
n.1502C>T
c.8042C>T (n.8042C>T)
c.891C>T
c.7897C>T (p.Gln2633Ter)
c.7873C>T (p.Gln2625Ter)
c.7933C>T (p.Gln2645Ter)
c.7813C>T (p.Gln2605Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31357305_31357306delinsCACA2255615210NF1c.7888_7889delinsCA (p.Gln2630=)
c.2470_2471delinsCA (p.Gln824=)
c.2062_2063delinsCA (p.Gln688=)
n.4551_4552delinsCA
c.956_957delinsCA
c.7936_7937delinsCA (p.Gln2646=)
c.7906_7907delinsCA (p.Gln2636=)
c.7843_7844delinsCA (p.Gln2615=)
c.6841_6842delinsCA (p.Gln2281=)
c.1289_1290delinsCA
n.1502_1503delinsCA
c.8042_8043delinsCA (n.8042_8043delinsCA)
c.891_892delinsCA
c.7897_7898delinsCA (p.Gln2633=)
c.7873_7874delinsCA (p.Gln2625=)
c.7933_7934delinsCA (p.Gln2645=)
c.7813_7814delinsCA (p.Gln2605=)
17g.31357306A=CA2255615217NF1c.7889A= (p.Gln2630=)
c.2471A= (p.Gln824=)
c.2063A= (p.Gln688=)
n.4552A=
c.957A=
c.7937A= (p.Gln2646=)
c.7907A= (p.Gln2636=)
c.7844A= (p.Gln2615=)
c.6842A= (p.Gln2281=)
c.1290A=
n.1503A=
c.8043A= (n.8043A=)
c.892A=
c.7898A= (p.Gln2633=)
c.7874A= (p.Gln2625=)
c.7934A= (p.Gln2645=)
c.7814A= (p.Gln2605=)
17g.31357306A>CCA399203433NF1c.7889A>C (p.Gln2630Pro)
c.2471A>C (p.Gln824Pro)
c.2063A>C (p.Gln688Pro)
n.4552A>C
c.957A>C
c.7937A>C (p.Gln2646Pro)
c.7907A>C (p.Gln2636Pro)
c.7844A>C (p.Gln2615Pro)
c.6842A>C (p.Gln2281Pro)
c.1290A>C
n.1503A>C
c.8043A>C (n.8043A>C)
c.892A>C
c.7898A>C (p.Gln2633Pro)
c.7874A>C (p.Gln2625Pro)
c.7934A>C (p.Gln2645Pro)
c.7814A>C (p.Gln2605Pro)
 ClinVar dbSNP
17g.31357306A>GCA399203434NF1c.7889A>G (p.Gln2630Arg)
c.2471A>G (p.Gln824Arg)
c.2063A>G (p.Gln688Arg)
n.4552A>G
c.957A>G
c.7937A>G (p.Gln2646Arg)
c.7907A>G (p.Gln2636Arg)
c.7844A>G (p.Gln2615Arg)
c.6842A>G (p.Gln2281Arg)
c.1290A>G
n.1503A>G
c.8043A>G (n.8043A>G)
c.892A>G
c.7898A>G (p.Gln2633Arg)
c.7874A>G (p.Gln2625Arg)
c.7934A>G (p.Gln2645Arg)
c.7814A>G (p.Gln2605Arg)
 gnomAD v4
17g.31357306A>TCA399203435NF1c.7889A>T (p.Gln2630Leu)
c.2471A>T (p.Gln824Leu)
c.2063A>T (p.Gln688Leu)
n.4552A>T
c.957A>T
c.7937A>T (p.Gln2646Leu)
c.7907A>T (p.Gln2636Leu)
c.7844A>T (p.Gln2615Leu)
c.6842A>T (p.Gln2281Leu)
c.1290A>T
n.1503A>T
c.8043A>T (n.8043A>T)
c.892A>T
c.7898A>T (p.Gln2633Leu)
c.7874A>T (p.Gln2625Leu)
c.7934A>T (p.Gln2645Leu)
c.7814A>T (p.Gln2605Leu)
 dbSNP
17g.31357307dupCA2695225540NF1c.7890dup (p.Arg2631ThrfsTer5)
c.2472dup (p.Arg825ThrfsTer5)
c.2064dup (p.Arg689ThrfsTer5)
n.4553dup
c.958dup
c.7938dup (p.Arg2647ThrfsTer5)
c.7908dup (p.Arg2637ThrfsTer5)
c.7845dup (p.Arg2616ThrfsTer5)
c.6843dup (p.Arg2282ThrfsTer5)
c.1291dup
n.1504dup
c.8044dup (n.8044dup)
c.893dup
c.7899dup (p.Arg2634ThrfsTer5)
c.7875dup (p.Arg2626ThrfsTer5)
c.7935dup (p.Arg2646ThrfsTer5)
c.7815dup (p.Arg2606ThrfsTer5)
17g.31357307delCA915949912NF1c.7890del (p.Gln2630HisfsTer8)
c.2472del (p.Gln824HisfsTer8)
c.2064del (p.Gln688HisfsTer8)
n.4553del
c.958del
c.7938del (p.Gln2646HisfsTer8)
c.7908del (p.Gln2636HisfsTer8)
c.7845del (p.Gln2615HisfsTer8)
c.6843del (p.Gln2281HisfsTer8)
c.1291del
n.1504del
c.8044del (n.8044del)
c.893del
c.7899del (p.Gln2633HisfsTer8)
c.7875del (p.Gln2625HisfsTer8)
c.7935del (p.Gln2645HisfsTer8)
c.7815del (p.Gln2605HisfsTer8)
 ClinVar dbSNP
17g.31357307A>CCA399203436NF1c.7890A>C (p.Gln2630His)
c.2472A>C (p.Gln824His)
c.2064A>C (p.Gln688His)
n.4553A>C
c.958A>C
c.7938A>C (p.Gln2646His)
c.7908A>C (p.Gln2636His)
c.7845A>C (p.Gln2615His)
c.6843A>C (p.Gln2281His)
c.1291A>C
n.1504A>C
c.8044A>C (n.8044A>C)
c.893A>C
c.7899A>C (p.Gln2633His)
c.7875A>C (p.Gln2625His)
c.7935A>C (p.Gln2645His)
c.7815A>C (p.Gln2605His)
17g.31357307A>GCA499340709NF1c.7890A>G (p.Gln2630=)
c.2472A>G (p.Gln824=)
c.2064A>G (p.Gln688=)
n.4553A>G
c.958A>G
c.7938A>G (p.Gln2646=)
c.7908A>G (p.Gln2636=)
c.7845A>G (p.Gln2615=)
c.6843A>G (p.Gln2281=)
c.1291A>G
n.1504A>G
c.8044A>G (n.8044A>G)
c.893A>G
c.7899A>G (p.Gln2633=)
c.7875A>G (p.Gln2625=)
c.7935A>G (p.Gln2645=)
c.7815A>G (p.Gln2605=)
 ClinVar dbSNP
17g.31357307A>TCA399203437NF1c.7890A>T (p.Gln2630His)
c.2472A>T (p.Gln824His)
c.2064A>T (p.Gln688His)
n.4553A>T
c.958A>T
c.7938A>T (p.Gln2646His)
c.7908A>T (p.Gln2636His)
c.7845A>T (p.Gln2615His)
c.6843A>T (p.Gln2281His)
c.1291A>T
n.1504A>T
c.8044A>T (n.8044A>T)
c.893A>T
c.7899A>T (p.Gln2633His)
c.7875A>T (p.Gln2625His)
c.7935A>T (p.Gln2645His)
c.7815A>T (p.Gln2605His)
 dbSNP
17g.31357308C>ACA499340712NF1c.7891C>A (p.Arg2631=)
c.2473C>A (p.Arg825=)
c.2065C>A (p.Arg689=)
n.4554C>A
c.959C>A
c.7939C>A (p.Arg2647=)
c.7909C>A (p.Arg2637=)
c.7846C>A (p.Arg2616=)
c.6844C>A (p.Arg2282=)
c.1292C>A
n.1505C>A
c.8045C>A (n.8045C>A)
c.894C>A
c.7900C>A (p.Arg2634=)
c.7876C>A (p.Arg2626=)
c.7936C>A (p.Arg2646=)
c.7816C>A (p.Arg2606=)
 dbSNP
17g.31357308C=CA2255615222NF1c.7891C= (p.Arg2631=)
c.2473C= (p.Arg825=)
c.2065C= (p.Arg689=)
n.4554C=
c.959C=
c.7939C= (p.Arg2647=)
c.7909C= (p.Arg2637=)
c.7846C= (p.Arg2616=)
c.6844C= (p.Arg2282=)
c.1292C=
n.1505C=
c.8045C= (n.8045C=)
c.894C=
c.7900C= (p.Arg2634=)
c.7876C= (p.Arg2626=)
c.7936C= (p.Arg2646=)
c.7816C= (p.Arg2606=)
17g.31357308C>GCA399203438NF1c.7891C>G (p.Arg2631Gly)
c.2473C>G (p.Arg825Gly)
c.2065C>G (p.Arg689Gly)
n.4554C>G
c.959C>G
c.7939C>G (p.Arg2647Gly)
c.7909C>G (p.Arg2637Gly)
c.7846C>G (p.Arg2616Gly)
c.6844C>G (p.Arg2282Gly)
c.1292C>G
n.1505C>G
c.8045C>G (n.8045C>G)
c.894C>G
c.7900C>G (p.Arg2634Gly)
c.7876C>G (p.Arg2626Gly)
c.7936C>G (p.Arg2646Gly)
c.7816C>G (p.Arg2606Gly)
 dbSNP
17g.31357308C>TCA188413NF1c.7891C>T (p.Arg2631Ter)
c.2473C>T (p.Arg825Ter)
c.2065C>T (p.Arg689Ter)
n.4554C>T
c.959C>T
c.7939C>T (p.Arg2647Ter)
c.7909C>T (p.Arg2637Ter)
c.7846C>T (p.Arg2616Ter)
c.6844C>T (p.Arg2282Ter)
c.1292C>T
n.1505C>T
c.8045C>T (n.8045C>T)
c.894C>T
c.7900C>T (p.Arg2634Ter)
c.7876C>T (p.Arg2626Ter)
c.7936C>T (p.Arg2646Ter)
c.7816C>T (p.Arg2606Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.31357308_31357309insTCA2565215055NF1c.7891_7892insT (p.Arg2631LeufsTer5)
c.2473_2474insT (p.Arg825LeufsTer5)
c.2065_2066insT (p.Arg689LeufsTer5)
n.4554_4555insT
c.959_960insT
c.7939_7940insT (p.Arg2647LeufsTer5)
c.7909_7910insT (p.Arg2637LeufsTer5)
c.7846_7847insT (p.Arg2616LeufsTer5)
c.6844_6845insT (p.Arg2282LeufsTer5)
c.1292_1293insT
n.1505_1506insT
c.8045_8046insT (n.8045_8046insT)
c.894_895insT
c.7900_7901insT (p.Arg2634LeufsTer5)
c.7876_7877insT (p.Arg2626LeufsTer5)
c.7936_7937insT (p.Arg2646LeufsTer5)
c.7816_7817insT (p.Arg2606LeufsTer5)
17g.31357309G>ACA164550NF1c.7892G>A (p.Arg2631Gln)
c.2474G>A (p.Arg825Gln)
c.2066G>A (p.Arg689Gln)
n.4555G>A
c.960G>A
c.7940G>A (p.Arg2647Gln)
c.7910G>A (p.Arg2637Gln)
c.7847G>A (p.Arg2616Gln)
c.6845G>A (p.Arg2282Gln)
c.1293G>A
n.1506G>A
c.8046G>A (n.8046G>A)
c.895G>A
c.7901G>A (p.Arg2634Gln)
c.7877G>A (p.Arg2626Gln)
c.7937G>A (p.Arg2646Gln)
c.7817G>A (p.Arg2606Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357309G>CCA399203439NF1c.7892G>C (p.Arg2631Pro)
c.2474G>C (p.Arg825Pro)
c.2066G>C (p.Arg689Pro)
n.4555G>C
c.960G>C
c.7940G>C (p.Arg2647Pro)
c.7910G>C (p.Arg2637Pro)
c.7847G>C (p.Arg2616Pro)
c.6845G>C (p.Arg2282Pro)
c.1293G>C
n.1506G>C
c.8046G>C (n.8046G>C)
c.895G>C
c.7901G>C (p.Arg2634Pro)
c.7877G>C (p.Arg2626Pro)
c.7937G>C (p.Arg2646Pro)
c.7817G>C (p.Arg2606Pro)
 dbSNP gnomAD v4
17g.31357309G=CA2255615232NF1c.7892G= (p.Arg2631=)
c.2474G= (p.Arg825=)
c.2066G= (p.Arg689=)
n.4555G=
c.960G=
c.7940G= (p.Arg2647=)
c.7910G= (p.Arg2637=)
c.7847G= (p.Arg2616=)
c.6845G= (p.Arg2282=)
c.1293G=
n.1506G=
c.8046G= (n.8046G=)
c.895G=
c.7901G= (p.Arg2634=)
c.7877G= (p.Arg2626=)
c.7937G= (p.Arg2646=)
c.7817G= (p.Arg2606=)
17g.31357309G>TCA399203440NF1c.7892G>T (p.Arg2631Leu)
c.2474G>T (p.Arg825Leu)
c.2066G>T (p.Arg689Leu)
n.4555G>T
c.960G>T
c.7940G>T (p.Arg2647Leu)
c.7910G>T (p.Arg2637Leu)
c.7847G>T (p.Arg2616Leu)
c.6845G>T (p.Arg2282Leu)
c.1293G>T
n.1506G>T
c.8046G>T (n.8046G>T)
c.895G>T
c.7901G>T (p.Arg2634Leu)
c.7877G>T (p.Arg2626Leu)
c.7937G>T (p.Arg2646Leu)
c.7817G>T (p.Arg2606Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31357310A=CA2255615247NF1c.7893A= (p.Arg2631=)
c.2475A= (p.Arg825=)
c.2067A= (p.Arg689=)
n.4556A=
c.961A=
c.7941A= (p.Arg2647=)
c.7911A= (p.Arg2637=)
c.7848A= (p.Arg2616=)
c.6846A= (p.Arg2282=)
c.1294A=
n.1507A=
c.8047A= (n.8047A=)
c.896A=
c.7902A= (p.Arg2634=)
c.7878A= (p.Arg2626=)
c.7938A= (p.Arg2646=)
c.7818A= (p.Arg2606=)
17g.31357310A>CCA499340721NF1c.7893A>C (p.Arg2631=)
c.2475A>C (p.Arg825=)
c.2067A>C (p.Arg689=)
n.4556A>C
c.961A>C
c.7941A>C (p.Arg2647=)
c.7911A>C (p.Arg2637=)
c.7848A>C (p.Arg2616=)
c.6846A>C (p.Arg2282=)
c.1294A>C
n.1507A>C
c.8047A>C (n.8047A>C)
c.896A>C
c.7902A>C (p.Arg2634=)
c.7878A>C (p.Arg2626=)
c.7938A>C (p.Arg2646=)
c.7818A>C (p.Arg2606=)
 gnomAD v4
17g.31357310A>GCA499340723NF1c.7893A>G (p.Arg2631=)
c.2475A>G (p.Arg825=)
c.2067A>G (p.Arg689=)
n.4556A>G
c.961A>G
c.7941A>G (p.Arg2647=)
c.7911A>G (p.Arg2637=)
c.7848A>G (p.Arg2616=)
c.6846A>G (p.Arg2282=)
c.1294A>G
n.1507A>G
c.8047A>G (n.8047A>G)
c.896A>G
c.7902A>G (p.Arg2634=)
c.7878A>G (p.Arg2626=)
c.7938A>G (p.Arg2646=)
c.7818A>G (p.Arg2606=)
17g.31357310A>TCA499340725NF1c.7893A>T (p.Arg2631=)
c.2475A>T (p.Arg825=)
c.2067A>T (p.Arg689=)
n.4556A>T
c.961A>T
c.7941A>T (p.Arg2647=)
c.7911A>T (p.Arg2637=)
c.7848A>T (p.Arg2616=)
c.6846A>T (p.Arg2282=)
c.1294A>T
n.1507A>T
c.8047A>T (n.8047A>T)
c.896A>T
c.7902A>T (p.Arg2634=)
c.7878A>T (p.Arg2626=)
c.7938A>T (p.Arg2646=)
c.7818A>T (p.Arg2606=)
 ClinVar dbSNP
17g.31357311delCA2580093472NF1c.7894del (p.Ile2632PhefsTer6)
c.2476del (p.Ile826PhefsTer6)
c.2068del (p.Ile690PhefsTer6)
n.4557del
c.962del
c.7942del (p.Ile2648PhefsTer6)
c.7912del (p.Ile2638PhefsTer6)
c.7849del (p.Ile2617PhefsTer6)
c.6847del (p.Ile2283PhefsTer6)
c.1295del
n.1508del
c.8048del (n.8048del)
c.897del
c.7903del (p.Ile2635PhefsTer6)
c.7879del (p.Ile2627PhefsTer6)
c.7939del (p.Ile2647PhefsTer6)
c.7819del (p.Ile2607PhefsTer6)
 ClinVar
17g.31357310_31357313dupCA2695225541NF1c.7893_7896dup (p.Leu2633AsnfsTer4)
c.2475_2478dup (p.Leu827AsnfsTer4)
c.2067_2070dup (p.Leu691AsnfsTer4)
n.4556_4559dup
c.961_964dup
c.7941_7944dup (p.Leu2649AsnfsTer4)
c.7911_7914dup (p.Leu2639AsnfsTer4)
c.7848_7851dup (p.Leu2618AsnfsTer4)
c.6846_6849dup (p.Leu2284AsnfsTer4)
c.1294_1297dup
n.1507_1510dup
c.8047_8050dup (n.8047_8050dup)
c.896_899dup
c.7902_7905dup (p.Leu2636AsnfsTer4)
c.7878_7881dup (p.Leu2628AsnfsTer4)
c.7938_7941dup (p.Leu2648AsnfsTer4)
c.7818_7821dup (p.Leu2608AsnfsTer4)
17g.31357311A>CCA399203441NF1c.7894A>C (p.Ile2632Leu)
c.2476A>C (p.Ile826Leu)
c.2068A>C (p.Ile690Leu)
n.4557A>C
c.962A>C
c.7942A>C (p.Ile2648Leu)
c.7912A>C (p.Ile2638Leu)
c.7849A>C (p.Ile2617Leu)
c.6847A>C (p.Ile2283Leu)
c.1295A>C
n.1508A>C
c.8048A>C (n.8048A>C)
c.897A>C
c.7903A>C (p.Ile2635Leu)
c.7879A>C (p.Ile2627Leu)
c.7939A>C (p.Ile2647Leu)
c.7819A>C (p.Ile2607Leu)
 ClinVar
17g.31357311A>GCA399203442NF1c.7894A>G (p.Ile2632Val)
c.2476A>G (p.Ile826Val)
c.2068A>G (p.Ile690Val)
n.4557A>G
c.962A>G
c.7942A>G (p.Ile2648Val)
c.7912A>G (p.Ile2638Val)
c.7849A>G (p.Ile2617Val)
c.6847A>G (p.Ile2283Val)
c.1295A>G
n.1508A>G
c.8048A>G (n.8048A>G)
c.897A>G
c.7903A>G (p.Ile2635Val)
c.7879A>G (p.Ile2627Val)
c.7939A>G (p.Ile2647Val)
c.7819A>G (p.Ile2607Val)
 ClinVar dbSNP
17g.31357311A>TCA399203443NF1c.7894A>T (p.Ile2632Phe)
c.2476A>T (p.Ile826Phe)
c.2068A>T (p.Ile690Phe)
n.4557A>T
c.962A>T
c.7942A>T (p.Ile2648Phe)
c.7912A>T (p.Ile2638Phe)
c.7849A>T (p.Ile2617Phe)
c.6847A>T (p.Ile2283Phe)
c.1295A>T
n.1508A>T
c.8048A>T (n.8048A>T)
c.897A>T
c.7903A>T (p.Ile2635Phe)
c.7879A>T (p.Ile2627Phe)
c.7939A>T (p.Ile2647Phe)
c.7819A>T (p.Ile2607Phe)
 dbSNP
17g.31357312T>ACA399203444NF1c.7895T>A (p.Ile2632Asn)
c.2477T>A (p.Ile826Asn)
c.2069T>A (p.Ile690Asn)
n.4558T>A
c.963T>A
c.7943T>A (p.Ile2648Asn)
c.7913T>A (p.Ile2638Asn)
c.7850T>A (p.Ile2617Asn)
c.6848T>A (p.Ile2283Asn)
c.1296T>A
n.1509T>A
c.8049T>A (n.8049T>A)
c.898T>A
c.7904T>A (p.Ile2635Asn)
c.7880T>A (p.Ile2627Asn)
c.7940T>A (p.Ile2647Asn)
c.7820T>A (p.Ile2607Asn)
 dbSNP
17g.31357312T>CCA399203445NF1c.7895T>C (p.Ile2632Thr)
c.2477T>C (p.Ile826Thr)
c.2069T>C (p.Ile690Thr)
n.4558T>C
c.963T>C
c.7943T>C (p.Ile2648Thr)
c.7913T>C (p.Ile2638Thr)
c.7850T>C (p.Ile2617Thr)
c.6848T>C (p.Ile2283Thr)
c.1296T>C
n.1509T>C
c.8049T>C (n.8049T>C)
c.898T>C
c.7904T>C (p.Ile2635Thr)
c.7880T>C (p.Ile2627Thr)
c.7940T>C (p.Ile2647Thr)
c.7820T>C (p.Ile2607Thr)
17g.31357312T>GCA399203446NF1c.7895T>G (p.Ile2632Ser)
c.2477T>G (p.Ile826Ser)
c.2069T>G (p.Ile690Ser)
n.4558T>G
c.963T>G
c.7943T>G (p.Ile2648Ser)
c.7913T>G (p.Ile2638Ser)
c.7850T>G (p.Ile2617Ser)
c.6848T>G (p.Ile2283Ser)
c.1296T>G
n.1509T>G
c.8049T>G (n.8049T>G)
c.898T>G
c.7904T>G (p.Ile2635Ser)
c.7880T>G (p.Ile2627Ser)
c.7940T>G (p.Ile2647Ser)
c.7820T>G (p.Ile2607Ser)
 ClinVar dbSNP gnomAD v4
17g.31357313delCA2695225542NF1c.7896del (p.Leu2633PhefsTer5)
c.2478del (p.Leu827PhefsTer5)
c.2070del (p.Leu691PhefsTer5)
n.4559del
c.964del
c.7944del (p.Leu2649PhefsTer5)
c.7914del (p.Leu2639PhefsTer5)
c.7851del (p.Leu2618PhefsTer5)
c.6849del (p.Leu2284PhefsTer5)
c.1297del
n.1510del
c.8050del (n.8050del)
c.899del
c.7905del (p.Leu2636PhefsTer5)
c.7881del (p.Leu2628PhefsTer5)
c.7941del (p.Leu2648PhefsTer5)
c.7821del (p.Leu2608PhefsTer5)
17g.31357313T>ACA499340738NF1c.7896T>A (p.Ile2632=)
c.2478T>A (p.Ile826=)
c.2070T>A (p.Ile690=)
n.4559T>A
c.964T>A
c.7944T>A (p.Ile2648=)
c.7914T>A (p.Ile2638=)
c.7851T>A (p.Ile2617=)
c.6849T>A (p.Ile2283=)
c.1297T>A
n.1510T>A
c.8050T>A (n.8050T>A)
c.899T>A
c.7905T>A (p.Ile2635=)
c.7881T>A (p.Ile2627=)
c.7941T>A (p.Ile2647=)
c.7821T>A (p.Ile2607=)
17g.31357313T>CCA499340740NF1c.7896T>C (p.Ile2632=)
c.2478T>C (p.Ile826=)
c.2070T>C (p.Ile690=)
n.4559T>C
c.964T>C
c.7944T>C (p.Ile2648=)
c.7914T>C (p.Ile2638=)
c.7851T>C (p.Ile2617=)
c.6849T>C (p.Ile2283=)
c.1297T>C
n.1510T>C
c.8050T>C (n.8050T>C)
c.899T>C
c.7905T>C (p.Ile2635=)
c.7881T>C (p.Ile2627=)
c.7941T>C (p.Ile2647=)
c.7821T>C (p.Ile2607=)
17g.31357313T>GCA399203447NF1c.7896T>G (p.Ile2632Met)
c.2478T>G (p.Ile826Met)
c.2070T>G (p.Ile690Met)
n.4559T>G
c.964T>G
c.7944T>G (p.Ile2648Met)
c.7914T>G (p.Ile2638Met)
c.7851T>G (p.Ile2617Met)
c.6849T>G (p.Ile2283Met)
c.1297T>G
n.1510T>G
c.8050T>G (n.8050T>G)
c.899T>G
c.7905T>G (p.Ile2635Met)
c.7881T>G (p.Ile2627Met)
c.7941T>G (p.Ile2647Met)
c.7821T>G (p.Ile2607Met)
 ClinVar dbSNP
17g.31357313T=CA2255611974NF1c.7896T= (p.Ile2632=)
c.2478T= (p.Ile826=)
c.2070T= (p.Ile690=)
n.4559T=
c.964T=
c.7944T= (p.Ile2648=)
c.7914T= (p.Ile2638=)
c.7851T= (p.Ile2617=)
c.6849T= (p.Ile2283=)
c.1297T=
n.1510T=
c.8050T= (n.8050T=)
c.899T=
c.7905T= (p.Ile2635=)
c.7881T= (p.Ile2627=)
c.7941T= (p.Ile2647=)
c.7821T= (p.Ile2607=)
17g.31357314C>ACA399203449NF1c.7897C>A (p.Leu2633Ile)
c.2479C>A (p.Leu827Ile)
c.2071C>A (p.Leu691Ile)
n.4560C>A
c.965C>A
c.7945C>A (p.Leu2649Ile)
c.7915C>A (p.Leu2639Ile)
c.7852C>A (p.Leu2618Ile)
c.6850C>A (p.Leu2284Ile)
c.1298C>A
n.1511C>A
c.8051C>A (n.8051C>A)
c.900C>A
c.7906C>A (p.Leu2636Ile)
c.7882C>A (p.Leu2628Ile)
c.7942C>A (p.Leu2648Ile)
c.7822C>A (p.Leu2608Ile)
 ClinVar dbSNP gnomAD v4
17g.31357314C=CA2255611990NF1c.7897C= (p.Leu2633=)
c.2479C= (p.Leu827=)
c.2071C= (p.Leu691=)
n.4560C=
c.965C=
c.7945C= (p.Leu2649=)
c.7915C= (p.Leu2639=)
c.7852C= (p.Leu2618=)
c.6850C= (p.Leu2284=)
c.1298C=
n.1511C=
c.8051C= (n.8051C=)
c.900C=
c.7906C= (p.Leu2636=)
c.7882C= (p.Leu2628=)
c.7942C= (p.Leu2648=)
c.7822C= (p.Leu2608=)
17g.31357314C>GCA16042977NF1c.7897C>G (p.Leu2633Val)
c.2479C>G (p.Leu827Val)
c.2071C>G (p.Leu691Val)
n.4560C>G
c.965C>G
c.7945C>G (p.Leu2649Val)
c.7915C>G (p.Leu2639Val)
c.7852C>G (p.Leu2618Val)
c.6850C>G (p.Leu2284Val)
c.1298C>G
n.1511C>G
c.8051C>G (n.8051C>G)
c.900C>G
c.7906C>G (p.Leu2636Val)
c.7882C>G (p.Leu2628Val)
c.7942C>G (p.Leu2648Val)
c.7822C>G (p.Leu2608Val)
 ClinVar dbSNP
17g.31357314C>TCA399203448NF1c.7897C>T (p.Leu2633Phe)
c.2479C>T (p.Leu827Phe)
c.2071C>T (p.Leu691Phe)
n.4560C>T
c.965C>T
c.7945C>T (p.Leu2649Phe)
c.7915C>T (p.Leu2639Phe)
c.7852C>T (p.Leu2618Phe)
c.6850C>T (p.Leu2284Phe)
c.1298C>T
n.1511C>T
c.8051C>T (n.8051C>T)
c.900C>T
c.7906C>T (p.Leu2636Phe)
c.7882C>T (p.Leu2628Phe)
c.7942C>T (p.Leu2648Phe)
c.7822C>T (p.Leu2608Phe)
 ClinVar dbSNP gnomAD v4
17g.31357315T>ACA399203450NF1c.7898T>A (p.Leu2633His)
c.2480T>A (p.Leu827His)
c.2072T>A (p.Leu691His)
n.4561T>A
c.966T>A
c.7946T>A (p.Leu2649His)
c.7916T>A (p.Leu2639His)
c.7853T>A (p.Leu2618His)
c.6851T>A (p.Leu2284His)
c.1299T>A
n.1512T>A
c.8052T>A (n.8052T>A)
c.901T>A
c.7907T>A (p.Leu2636His)
c.7883T>A (p.Leu2628His)
c.7943T>A (p.Leu2648His)
c.7823T>A (p.Leu2608His)
17g.31357315T>CCA399203451NF1c.7898T>C (p.Leu2633Pro)
c.2480T>C (p.Leu827Pro)
c.2072T>C (p.Leu691Pro)
n.4561T>C
c.966T>C
c.7946T>C (p.Leu2649Pro)
c.7916T>C (p.Leu2639Pro)
c.7853T>C (p.Leu2618Pro)
c.6851T>C (p.Leu2284Pro)
c.1299T>C
n.1512T>C
c.8052T>C (n.8052T>C)
c.901T>C
c.7907T>C (p.Leu2636Pro)
c.7883T>C (p.Leu2628Pro)
c.7943T>C (p.Leu2648Pro)
c.7823T>C (p.Leu2608Pro)
17g.31357315T>GCA399203452NF1c.7898T>G (p.Leu2633Arg)
c.2480T>G (p.Leu827Arg)
c.2072T>G (p.Leu691Arg)
n.4561T>G
c.966T>G
c.7946T>G (p.Leu2649Arg)
c.7916T>G (p.Leu2639Arg)
c.7853T>G (p.Leu2618Arg)
c.6851T>G (p.Leu2284Arg)
c.1299T>G
n.1512T>G
c.8052T>G (n.8052T>G)
c.901T>G
c.7907T>G (p.Leu2636Arg)
c.7883T>G (p.Leu2628Arg)
c.7943T>G (p.Leu2648Arg)
c.7823T>G (p.Leu2608Arg)
17g.31357316T>ACA499340758NF1c.7899T>A (p.Leu2633=)
c.2481T>A (p.Leu827=)
c.2073T>A (p.Leu691=)
n.4562T>A
c.967T>A
c.7947T>A (p.Leu2649=)
c.7917T>A (p.Leu2639=)
c.7854T>A (p.Leu2618=)
c.6852T>A (p.Leu2284=)
c.1300T>A
n.1513T>A
c.8053T>A (n.8053T>A)
c.902T>A
c.7908T>A (p.Leu2636=)
c.7884T>A (p.Leu2628=)
c.7944T>A (p.Leu2648=)
c.7824T>A (p.Leu2608=)
 dbSNP
17g.31357316T>CCA499340756NF1c.7899T>C (p.Leu2633=)
c.2481T>C (p.Leu827=)
c.2073T>C (p.Leu691=)
n.4562T>C
c.967T>C
c.7947T>C (p.Leu2649=)
c.7917T>C (p.Leu2639=)
c.7854T>C (p.Leu2618=)
c.6852T>C (p.Leu2284=)
c.1300T>C
n.1513T>C
c.8053T>C (n.8053T>C)
c.902T>C
c.7908T>C (p.Leu2636=)
c.7884T>C (p.Leu2628=)
c.7944T>C (p.Leu2648=)
c.7824T>C (p.Leu2608=)
17g.31357316T>GCA499340754NF1c.7899T>G (p.Leu2633=)
c.2481T>G (p.Leu827=)
c.2073T>G (p.Leu691=)
n.4562T>G
c.967T>G
c.7947T>G (p.Leu2649=)
c.7917T>G (p.Leu2639=)
c.7854T>G (p.Leu2618=)
c.6852T>G (p.Leu2284=)
c.1300T>G
n.1513T>G
c.8053T>G (n.8053T>G)
c.902T>G
c.7908T>G (p.Leu2636=)
c.7884T>G (p.Leu2628=)
c.7944T>G (p.Leu2648=)
c.7824T>G (p.Leu2608=)
 dbSNP gnomAD v2 gnomAD v4
17g.31357316T=CA2255611999NF1c.7899T= (p.Leu2633=)
c.2481T= (p.Leu827=)
c.2073T= (p.Leu691=)
n.4562T=
c.967T=
c.7947T= (p.Leu2649=)
c.7917T= (p.Leu2639=)
c.7854T= (p.Leu2618=)
c.6852T= (p.Leu2284=)
c.1300T=
n.1513T=
c.8053T= (n.8053T=)
c.902T=
c.7908T= (p.Leu2636=)
c.7884T= (p.Leu2628=)
c.7944T= (p.Leu2648=)
c.7824T= (p.Leu2608=)
17g.31357316_31357324delCA2733612798NF1c.7899_7907del (p.Tyr2634_Tyr2636del)
c.2481_2489del (p.Tyr828_Tyr830del)
c.2073_2081del (p.Tyr692_Tyr694del)
n.4562_4570del
c.967_975del
c.7947_7955del (p.Tyr2650_Tyr2652del)
c.7917_7925del (p.Tyr2640_Tyr2642del)
c.7854_7862del (p.Tyr2619_Tyr2621del)
c.6852_6860del (p.Tyr2285_Tyr2287del)
c.1300_1308del
n.1513_1521del
c.8053_8061del (n.8053_8061del)
c.902_910del
c.7908_7916del (p.Tyr2637_Tyr2639del)
c.7884_7892del (p.Tyr2629_Tyr2631del)
c.7944_7952del (p.Tyr2649_Tyr2651del)
c.7824_7832del (p.Tyr2609_Tyr2611del)
 dbSNP
17g.31357316_31357317insACA915949913NF1c.7899_7900insA (p.Tyr2634IlefsTer2)
c.2481_2482insA (p.Tyr828IlefsTer2)
c.2073_2074insA (p.Tyr692IlefsTer2)
n.4562_4563insA
c.967_968insA
c.7947_7948insA (p.Tyr2650IlefsTer2)
c.7917_7918insA (p.Tyr2640IlefsTer2)
c.7854_7855insA (p.Tyr2619IlefsTer2)
c.6852_6853insA (p.Tyr2285IlefsTer2)
c.1300_1301insA
n.1513_1514insA
c.8053_8054insA (n.8053_8054insA)
c.902_903insA
c.7908_7909insA (p.Tyr2637IlefsTer2)
c.7884_7885insA (p.Tyr2629IlefsTer2)
c.7944_7945insA (p.Tyr2649IlefsTer2)
c.7824_7825insA (p.Tyr2609IlefsTer2)
 ClinVar dbSNP
17g.31357317T>ACA399203453NF1c.7900T>A (p.Tyr2634Asn)
c.2482T>A (p.Tyr828Asn)
c.2074T>A (p.Tyr692Asn)
n.4563T>A
c.968T>A
c.7948T>A (p.Tyr2650Asn)
c.7918T>A (p.Tyr2640Asn)
c.7855T>A (p.Tyr2619Asn)
c.6853T>A (p.Tyr2285Asn)
c.1301T>A
n.1514T>A
c.8054T>A (n.8054T>A)
c.903T>A
c.7909T>A (p.Tyr2637Asn)
c.7885T>A (p.Tyr2629Asn)
c.7945T>A (p.Tyr2649Asn)
c.7825T>A (p.Tyr2609Asn)
17g.31357317T>CCA399203454NF1c.7900T>C (p.Tyr2634His)
c.2482T>C (p.Tyr828His)
c.2074T>C (p.Tyr692His)
n.4563T>C
c.968T>C
c.7948T>C (p.Tyr2650His)
c.7918T>C (p.Tyr2640His)
c.7855T>C (p.Tyr2619His)
c.6853T>C (p.Tyr2285His)
c.1301T>C
n.1514T>C
c.8054T>C (n.8054T>C)
c.903T>C
c.7909T>C (p.Tyr2637His)
c.7885T>C (p.Tyr2629His)
c.7945T>C (p.Tyr2649His)
c.7825T>C (p.Tyr2609His)
 dbSNP gnomAD v2
17g.31357317T>GCA399203455NF1c.7900T>G (p.Tyr2634Asp)
c.2482T>G (p.Tyr828Asp)
c.2074T>G (p.Tyr692Asp)
n.4563T>G
c.968T>G
c.7948T>G (p.Tyr2650Asp)
c.7918T>G (p.Tyr2640Asp)
c.7855T>G (p.Tyr2619Asp)
c.6853T>G (p.Tyr2285Asp)
c.1301T>G
n.1514T>G
c.8054T>G (n.8054T>G)
c.903T>G
c.7909T>G (p.Tyr2637Asp)
c.7885T>G (p.Tyr2629Asp)
c.7945T>G (p.Tyr2649Asp)
c.7825T>G (p.Tyr2609Asp)
17g.31357317T=CA2255612014NF1c.7900T= (p.Tyr2634=)
c.2482T= (p.Tyr828=)
c.2074T= (p.Tyr692=)
n.4563T=
c.968T=
c.7948T= (p.Tyr2650=)
c.7918T= (p.Tyr2640=)
c.7855T= (p.Tyr2619=)
c.6853T= (p.Tyr2285=)
c.1301T=
n.1514T=
c.8054T= (n.8054T=)
c.903T=
c.7909T= (p.Tyr2637=)
c.7885T= (p.Tyr2629=)
c.7945T= (p.Tyr2649=)
c.7825T= (p.Tyr2609=)
17g.31357317_31357318insTCCAGCA2536616493NF1c.7900_7901insTCCAG (p.Tyr2634PhefsTer6)
c.2482_2483insTCCAG (p.Tyr828PhefsTer6)
c.2074_2075insTCCAG (p.Tyr692PhefsTer6)
n.4563_4564insTCCAG
c.968_969insTCCAG
c.7948_7949insTCCAG (p.Tyr2650PhefsTer6)
c.7918_7919insTCCAG (p.Tyr2640PhefsTer6)
c.7855_7856insTCCAG (p.Tyr2619PhefsTer6)
c.6853_6854insTCCAG (p.Tyr2285PhefsTer6)
c.1301_1302insTCCAG
n.1514_1515insTCCAG
c.8054_8055insTCCAG (n.8054_8055insTCCAG)
c.903_904insTCCAG
c.7909_7910insTCCAG (p.Tyr2637PhefsTer6)
c.7885_7886insTCCAG (p.Tyr2629PhefsTer6)
c.7945_7946insTCCAG (p.Tyr2649PhefsTer6)
c.7825_7826insTCCAG (p.Tyr2609PhefsTer6)
17g.31357318A=CA2255612029NF1c.7901A= (p.Tyr2634=)
c.2483A= (p.Tyr828=)
c.2075A= (p.Tyr692=)
n.4564A=
c.969A=
c.7949A= (p.Tyr2650=)
c.7919A= (p.Tyr2640=)
c.7856A= (p.Tyr2619=)
c.6854A= (p.Tyr2285=)
c.1302A=
n.1515A=
c.8055A= (n.8055A=)
c.904A=
c.7910A= (p.Tyr2637=)
c.7886A= (p.Tyr2629=)
c.7946A= (p.Tyr2649=)
c.7826A= (p.Tyr2609=)
17g.31357318A>CCA399203456NF1c.7901A>C (p.Tyr2634Ser)
c.2483A>C (p.Tyr828Ser)
c.2075A>C (p.Tyr692Ser)
n.4564A>C
c.969A>C
c.7949A>C (p.Tyr2650Ser)
c.7919A>C (p.Tyr2640Ser)
c.7856A>C (p.Tyr2619Ser)
c.6854A>C (p.Tyr2285Ser)
c.1302A>C
n.1515A>C
c.8055A>C (n.8055A>C)
c.904A>C
c.7910A>C (p.Tyr2637Ser)
c.7886A>C (p.Tyr2629Ser)
c.7946A>C (p.Tyr2649Ser)
c.7826A>C (p.Tyr2609Ser)
 dbSNP
17g.31357318A>GCA399203457NF1c.7901A>G (p.Tyr2634Cys)
c.2483A>G (p.Tyr828Cys)
c.2075A>G (p.Tyr692Cys)
n.4564A>G
c.969A>G
c.7949A>G (p.Tyr2650Cys)
c.7919A>G (p.Tyr2640Cys)
c.7856A>G (p.Tyr2619Cys)
c.6854A>G (p.Tyr2285Cys)
c.1302A>G
n.1515A>G
c.8055A>G (n.8055A>G)
c.904A>G
c.7910A>G (p.Tyr2637Cys)
c.7886A>G (p.Tyr2629Cys)
c.7946A>G (p.Tyr2649Cys)
c.7826A>G (p.Tyr2609Cys)
 ClinVar dbSNP gnomAD v4
17g.31357318A>TCA399203458NF1c.7901A>T (p.Tyr2634Phe)
c.2483A>T (p.Tyr828Phe)
c.2075A>T (p.Tyr692Phe)
n.4564A>T
c.969A>T
c.7949A>T (p.Tyr2650Phe)
c.7919A>T (p.Tyr2640Phe)
c.7856A>T (p.Tyr2619Phe)
c.6854A>T (p.Tyr2285Phe)
c.1302A>T
n.1515A>T
c.8055A>T (n.8055A>T)
c.904A>T
c.7910A>T (p.Tyr2637Phe)
c.7886A>T (p.Tyr2629Phe)
c.7946A>T (p.Tyr2649Phe)
c.7826A>T (p.Tyr2609Phe)
 ClinVar dbSNP
17g.31357320_31357323dupCA2739267294NF1c.7903_7906dup (p.Tyr2636Ter)
c.2485_2488dup (p.Tyr830Ter)
c.2077_2080dup (p.Tyr694Ter)
n.4566_4569dup
c.971_974dup
c.7951_7954dup (p.Tyr2652Ter)
c.7921_7924dup (p.Tyr2642Ter)
c.7858_7861dup (p.Tyr2621Ter)
c.6856_6859dup (p.Tyr2287Ter)
c.1304_1307dup
n.1517_1520dup
c.8057_8060dup (n.8057_8060dup)
c.906_909dup
c.7912_7915dup (p.Tyr2639Ter)
c.7888_7891dup (p.Tyr2631Ter)
c.7948_7951dup (p.Tyr2651Ter)
c.7828_7831dup (p.Tyr2611Ter)
 ClinVar
17g.31357319T>ACA399203459NF1c.7902T>A (p.Tyr2634Ter)
c.2484T>A (p.Tyr828Ter)
c.2076T>A (p.Tyr692Ter)
n.4565T>A
c.970T>A
c.7950T>A (p.Tyr2650Ter)
c.7920T>A (p.Tyr2640Ter)
c.7857T>A (p.Tyr2619Ter)
c.6855T>A (p.Tyr2285Ter)
c.1303T>A
n.1516T>A
c.8056T>A (n.8056T>A)
c.905T>A
c.7911T>A (p.Tyr2637Ter)
c.7887T>A (p.Tyr2629Ter)
c.7947T>A (p.Tyr2649Ter)
c.7827T>A (p.Tyr2609Ter)
 dbSNP
17g.31357319T>CCA499340772NF1c.7902T>C (p.Tyr2634=)
c.2484T>C (p.Tyr828=)
c.2076T>C (p.Tyr692=)
n.4565T>C
c.970T>C
c.7950T>C (p.Tyr2650=)
c.7920T>C (p.Tyr2640=)
c.7857T>C (p.Tyr2619=)
c.6855T>C (p.Tyr2285=)
c.1303T>C
n.1516T>C
c.8056T>C (n.8056T>C)
c.905T>C
c.7911T>C (p.Tyr2637=)
c.7887T>C (p.Tyr2629=)
c.7947T>C (p.Tyr2649=)
c.7827T>C (p.Tyr2609=)
 dbSNP
17g.31357319T>GCA16615330NF1c.7902T>G (p.Tyr2634Ter)
c.2484T>G (p.Tyr828Ter)
c.2076T>G (p.Tyr692Ter)
n.4565T>G
c.970T>G
c.7950T>G (p.Tyr2650Ter)
c.7920T>G (p.Tyr2640Ter)
c.7857T>G (p.Tyr2619Ter)
c.6855T>G (p.Tyr2285Ter)
c.1303T>G
n.1516T>G
c.8056T>G (n.8056T>G)
c.905T>G
c.7911T>G (p.Tyr2637Ter)
c.7887T>G (p.Tyr2629Ter)
c.7947T>G (p.Tyr2649Ter)
c.7827T>G (p.Tyr2609Ter)
 ClinVar dbSNP
17g.31357319T=CA2255612034NF1c.7902T= (p.Tyr2634=)
c.2484T= (p.Tyr828=)
c.2076T= (p.Tyr692=)
n.4565T=
c.970T=
c.7950T= (p.Tyr2650=)
c.7920T= (p.Tyr2640=)
c.7857T= (p.Tyr2619=)
c.6855T= (p.Tyr2285=)
c.1303T=
n.1516T=
c.8056T= (n.8056T=)
c.905T=
c.7911T= (p.Tyr2637=)
c.7887T= (p.Tyr2629=)
c.7947T= (p.Tyr2649=)
c.7827T= (p.Tyr2609=)
17g.31357319_31357320delinsTGCA2255612039NF1c.7902_7903delinsTG (p.Tyr2634=)
c.2484_2485delinsTG (p.Tyr828=)
c.2076_2077delinsTG (p.Tyr692=)
n.4565_4566delinsTG
c.970_971delinsTG
c.7950_7951delinsTG (p.Tyr2650=)
c.7920_7921delinsTG (p.Tyr2640=)
c.7857_7858delinsTG (p.Tyr2619=)
c.6855_6856delinsTG (p.Tyr2285=)
c.1303_1304delinsTG
n.1516_1517delinsTG
c.8056_8057delinsTG (n.8056_8057delinsTG)
c.905_906delinsTG
c.7911_7912delinsTG (p.Tyr2637=)
c.7887_7888delinsTG (p.Tyr2629=)
c.7947_7948delinsTG (p.Tyr2649=)
c.7827_7828delinsTG (p.Tyr2609=)
17g.31357320delCA891843666NF1c.7903del (p.Glu2635AsnfsTer3)
c.2485del (p.Glu829AsnfsTer3)
c.2077del (p.Glu693AsnfsTer3)
n.4566del
c.971del
c.7951del (p.Glu2651AsnfsTer3)
c.7921del (p.Glu2641AsnfsTer3)
c.7858del (p.Glu2620AsnfsTer3)
c.6856del (p.Glu2286AsnfsTer3)
c.1304del
n.1517del
c.8057del (n.8057del)
c.906del
c.7912del (p.Glu2638AsnfsTer3)
c.7888del (p.Glu2630AsnfsTer3)
c.7948del (p.Glu2650AsnfsTer3)
c.7828del (p.Glu2610AsnfsTer3)
 ClinVar dbSNP
17g.31357320G>ACA399203462NF1c.7903G>A (p.Glu2635Lys)
c.2485G>A (p.Glu829Lys)
c.2077G>A (p.Glu693Lys)
n.4566G>A
c.971G>A
c.7951G>A (p.Glu2651Lys)
c.7921G>A (p.Glu2641Lys)
c.7858G>A (p.Glu2620Lys)
c.6856G>A (p.Glu2286Lys)
c.1304G>A
n.1517G>A
c.8057G>A (n.8057G>A)
c.906G>A
c.7912G>A (p.Glu2638Lys)
c.7888G>A (p.Glu2630Lys)
c.7948G>A (p.Glu2650Lys)
c.7828G>A (p.Glu2610Lys)
 ClinVar dbSNP
17g.31357320G>CCA399203461NF1c.7903G>C (p.Glu2635Gln)
c.2485G>C (p.Glu829Gln)
c.2077G>C (p.Glu693Gln)
n.4566G>C
c.971G>C
c.7951G>C (p.Glu2651Gln)
c.7921G>C (p.Glu2641Gln)
c.7858G>C (p.Glu2620Gln)
c.6856G>C (p.Glu2286Gln)
c.1304G>C
n.1517G>C
c.8057G>C (n.8057G>C)
c.906G>C
c.7912G>C (p.Glu2638Gln)
c.7888G>C (p.Glu2630Gln)
c.7948G>C (p.Glu2650Gln)
c.7828G>C (p.Glu2610Gln)
 dbSNP
17g.31357320G>TCA399203460NF1c.7903G>T (p.Glu2635Ter)
c.2485G>T (p.Glu829Ter)
c.2077G>T (p.Glu693Ter)
n.4566G>T
c.971G>T
c.7951G>T (p.Glu2651Ter)
c.7921G>T (p.Glu2641Ter)
c.7858G>T (p.Glu2620Ter)
c.6856G>T (p.Glu2286Ter)
c.1304G>T
n.1517G>T
c.8057G>T (n.8057G>T)
c.906G>T
c.7912G>T (p.Glu2638Ter)
c.7888G>T (p.Glu2630Ter)
c.7948G>T (p.Glu2650Ter)
c.7828G>T (p.Glu2610Ter)
 ClinVar dbSNP
17g.31357320_31357321insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAGCA2521928180NF1c.7903_7904insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2634_Glu2635insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.2485_2486insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr828_Glu829insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.2077_2078insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr692_Glu693insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
n.4566_4567insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG
c.971_972insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG
c.7951_7952insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2650_Glu2651insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.7921_7922insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2640_Glu2641insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.7858_7859insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2619_Glu2620insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.6856_6857insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2285_Glu2286insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.1304_1305insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG
n.1517_1518insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG
c.8057_8058insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (n.8057_8058insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG)
c.906_907insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG
c.7912_7913insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2637_Glu2638insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.7888_7889insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2629_Glu2630insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.7948_7949insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2649_Glu2650insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
c.7828_7829insCAAAAGGCAAGAATGTACCTATTCAAAAAGTAGGTAATTTCAATCGTAAGTTAGATGATATCGTAGTCATCGTTAAAACAG (p.Tyr2609_Glu2610insAlaLysGlyLysAsnValProIleGlnLysValGlyAsnPheAsnArgLysLeuAspAspIleValValIleValLysThr)
17g.31357320_31357321delCA2695225543NF1c.7903_7904del (p.Glu2635IlefsTer18)
c.2485_2486del (p.Glu829IlefsTer18)
c.2077_2078del (p.Glu693IlefsTer18)
n.4566_4567del
c.971_972del
c.7951_7952del (p.Glu2651IlefsTer18)
c.7921_7922del (p.Glu2641IlefsTer18)
c.7858_7859del (p.Glu2620IlefsTer18)
c.6856_6857del (p.Glu2286IlefsTer18)
c.1304_1305del
n.1517_1518del
c.8057_8058del (n.8057_8058del)
c.906_907del
c.7912_7913del (p.Glu2638IlefsTer18)
c.7888_7889del (p.Glu2630IlefsTer18)
c.7948_7949del (p.Glu2650IlefsTer18)
c.7828_7829del (p.Glu2610IlefsTer18)
17g.31357320_31357321delinsGACA2255612045NF1c.7903_7904delinsGA (p.Glu2635=)
c.2485_2486delinsGA (p.Glu829=)
c.2077_2078delinsGA (p.Glu693=)
n.4566_4567delinsGA
c.971_972delinsGA
c.7951_7952delinsGA (p.Glu2651=)
c.7921_7922delinsGA (p.Glu2641=)
c.7858_7859delinsGA (p.Glu2620=)
c.6856_6857delinsGA (p.Glu2286=)
c.1304_1305delinsGA
n.1517_1518delinsGA
c.8057_8058delinsGA (n.8057_8058delinsGA)
c.906_907delinsGA
c.7912_7913delinsGA (p.Glu2638=)
c.7888_7889delinsGA (p.Glu2630=)
c.7948_7949delinsGA (p.Glu2650=)
c.7828_7829delinsGA (p.Glu2610=)
17g.31357321A=CA2255612058NF1c.7904A= (p.Glu2635=)
c.2486A= (p.Glu829=)
c.2078A= (p.Glu693=)
n.4567A=
c.972A=
c.7952A= (p.Glu2651=)
c.7922A= (p.Glu2641=)
c.7859A= (p.Glu2620=)
c.6857A= (p.Glu2286=)
c.1305A=
n.1518A=
c.8058A= (n.8058A=)
c.907A=
c.7913A= (p.Glu2638=)
c.7889A= (p.Glu2630=)
c.7949A= (p.Glu2650=)
c.7829A= (p.Glu2610=)
17g.31357321A>CCA399203463NF1c.7904A>C (p.Glu2635Ala)
c.2486A>C (p.Glu829Ala)
c.2078A>C (p.Glu693Ala)
n.4567A>C
c.972A>C
c.7952A>C (p.Glu2651Ala)
c.7922A>C (p.Glu2641Ala)
c.7859A>C (p.Glu2620Ala)
c.6857A>C (p.Glu2286Ala)
c.1305A>C
n.1518A>C
c.8058A>C (n.8058A>C)
c.907A>C
c.7913A>C (p.Glu2638Ala)
c.7889A>C (p.Glu2630Ala)
c.7949A>C (p.Glu2650Ala)
c.7829A>C (p.Glu2610Ala)
 ClinVar dbSNP
17g.31357321A>GCA399203464NF1c.7904A>G (p.Glu2635Gly)
c.2486A>G (p.Glu829Gly)
c.2078A>G (p.Glu693Gly)
n.4567A>G
c.972A>G
c.7952A>G (p.Glu2651Gly)
c.7922A>G (p.Glu2641Gly)
c.7859A>G (p.Glu2620Gly)
c.6857A>G (p.Glu2286Gly)
c.1305A>G
n.1518A>G
c.8058A>G (n.8058A>G)
c.907A>G
c.7913A>G (p.Glu2638Gly)
c.7889A>G (p.Glu2630Gly)
c.7949A>G (p.Glu2650Gly)
c.7829A>G (p.Glu2610Gly)
 ClinVar dbSNP
17g.31357321A>TCA10580427NF1c.7904A>T (p.Glu2635Val)
c.2486A>T (p.Glu829Val)
c.2078A>T (p.Glu693Val)
n.4567A>T
c.972A>T
c.7952A>T (p.Glu2651Val)
c.7922A>T (p.Glu2641Val)
c.7859A>T (p.Glu2620Val)
c.6857A>T (p.Glu2286Val)
c.1305A>T
n.1518A>T
c.8058A>T (n.8058A>T)
c.907A>T
c.7913A>T (p.Glu2638Val)
c.7889A>T (p.Glu2630Val)
c.7949A>T (p.Glu2650Val)
c.7829A>T (p.Glu2610Val)
 ClinVar dbSNP
17g.31357322delCA645572285NF1c.7905del (p.Glu2635AspfsTer3)
c.2487del (p.Glu829AspfsTer3)
c.2079del (p.Glu693AspfsTer3)
n.4568del
c.973del
c.7953del (p.Glu2651AspfsTer3)
c.7923del (p.Glu2641AspfsTer3)
c.7860del (p.Glu2620AspfsTer3)
c.6858del (p.Glu2286AspfsTer3)
c.1306del
n.1519del
c.8059del (n.8059del)
c.908del
c.7914del (p.Glu2638AspfsTer3)
c.7890del (p.Glu2630AspfsTer3)
c.7950del (p.Glu2650AspfsTer3)
c.7830del (p.Glu2610AspfsTer3)
 ClinVar dbSNP COSMIC
17g.31357322A=CA2255612063NF1c.7905A= (p.Glu2635=)
c.2487A= (p.Glu829=)
c.2079A= (p.Glu693=)
n.4568A=
c.973A=
c.7953A= (p.Glu2651=)
c.7923A= (p.Glu2641=)
c.7860A= (p.Glu2620=)
c.6858A= (p.Glu2286=)
c.1306A=
n.1519A=
c.8059A= (n.8059A=)
c.908A=
c.7914A= (p.Glu2638=)
c.7890A= (p.Glu2630=)
c.7950A= (p.Glu2650=)
c.7830A= (p.Glu2610=)
17g.31357322A>CCA399203465NF1c.7905A>C (p.Glu2635Asp)
c.2487A>C (p.Glu829Asp)
c.2079A>C (p.Glu693Asp)
n.4568A>C
c.973A>C
c.7953A>C (p.Glu2651Asp)
c.7923A>C (p.Glu2641Asp)
c.7860A>C (p.Glu2620Asp)
c.6858A>C (p.Glu2286Asp)
c.1306A>C
n.1519A>C
c.8059A>C (n.8059A>C)
c.908A>C
c.7914A>C (p.Glu2638Asp)
c.7890A>C (p.Glu2630Asp)
c.7950A>C (p.Glu2650Asp)
c.7830A>C (p.Glu2610Asp)
 gnomAD v4
17g.31357322A>GCA499340787NF1c.7905A>G (p.Glu2635=)
c.2487A>G (p.Glu829=)
c.2079A>G (p.Glu693=)
n.4568A>G
c.973A>G
c.7953A>G (p.Glu2651=)
c.7923A>G (p.Glu2641=)
c.7860A>G (p.Glu2620=)
c.6858A>G (p.Glu2286=)
c.1306A>G
n.1519A>G
c.8059A>G (n.8059A>G)
c.908A>G
c.7914A>G (p.Glu2638=)
c.7890A>G (p.Glu2630=)
c.7950A>G (p.Glu2650=)
c.7830A>G (p.Glu2610=)
 ClinVar dbSNP gnomAD v4
17g.31357322A>TCA399203466NF1c.7905A>T (p.Glu2635Asp)
c.2487A>T (p.Glu829Asp)
c.2079A>T (p.Glu693Asp)
n.4568A>T
c.973A>T
c.7953A>T (p.Glu2651Asp)
c.7923A>T (p.Glu2641Asp)
c.7860A>T (p.Glu2620Asp)
c.6858A>T (p.Glu2286Asp)
c.1306A>T
n.1519A>T
c.8059A>T (n.8059A>T)
c.908A>T
c.7914A>T (p.Glu2638Asp)
c.7890A>T (p.Glu2630Asp)
c.7950A>T (p.Glu2650Asp)
c.7830A>T (p.Glu2610Asp)
17g.31357323T>ACA399203467NF1c.7906T>A (p.Tyr2636Asn)
c.2488T>A (p.Tyr830Asn)
c.2080T>A (p.Tyr694Asn)
n.4569T>A
c.974T>A
c.7954T>A (p.Tyr2652Asn)
c.7924T>A (p.Tyr2642Asn)
c.7861T>A (p.Tyr2621Asn)
c.6859T>A (p.Tyr2287Asn)
c.1307T>A
n.1520T>A
c.8060T>A (n.8060T>A)
c.909T>A
c.7915T>A (p.Tyr2639Asn)
c.7891T>A (p.Tyr2631Asn)
c.7951T>A (p.Tyr2651Asn)
c.7831T>A (p.Tyr2611Asn)
 dbSNP
17g.31357323T>CCA399203468NF1c.7906T>C (p.Tyr2636His)
c.2488T>C (p.Tyr830His)
c.2080T>C (p.Tyr694His)
n.4569T>C
c.974T>C
c.7954T>C (p.Tyr2652His)
c.7924T>C (p.Tyr2642His)
c.7861T>C (p.Tyr2621His)
c.6859T>C (p.Tyr2287His)
c.1307T>C
n.1520T>C
c.8060T>C (n.8060T>C)
c.909T>C
c.7915T>C (p.Tyr2639His)
c.7891T>C (p.Tyr2631His)
c.7951T>C (p.Tyr2651His)
c.7831T>C (p.Tyr2611His)
17g.31357323T>GCA399203469NF1c.7906T>G (p.Tyr2636Asp)
c.2488T>G (p.Tyr830Asp)
c.2080T>G (p.Tyr694Asp)
n.4569T>G
c.974T>G
c.7954T>G (p.Tyr2652Asp)
c.7924T>G (p.Tyr2642Asp)
c.7861T>G (p.Tyr2621Asp)
c.6859T>G (p.Tyr2287Asp)
c.1307T>G
n.1520T>G
c.8060T>G (n.8060T>G)
c.909T>G
c.7915T>G (p.Tyr2639Asp)
c.7891T>G (p.Tyr2631Asp)
c.7951T>G (p.Tyr2651Asp)
c.7831T>G (p.Tyr2611Asp)
 dbSNP
17g.31357324A>CCA399203470NF1c.7907A>C (p.Tyr2636Ser)
c.2489A>C (p.Tyr830Ser)
c.2081A>C (p.Tyr694Ser)
n.4570A>C
c.975A>C
c.7955A>C (p.Tyr2652Ser)
c.7925A>C (p.Tyr2642Ser)
c.7862A>C (p.Tyr2621Ser)
c.6860A>C (p.Tyr2287Ser)
c.1308A>C
n.1521A>C
c.8061A>C (n.8061A>C)
c.910A>C
c.7916A>C (p.Tyr2639Ser)
c.7892A>C (p.Tyr2631Ser)
c.7952A>C (p.Tyr2651Ser)
c.7832A>C (p.Tyr2611Ser)
 dbSNP
17g.31357324A>GCA399203471NF1c.7907A>G (p.Tyr2636Cys)
c.2489A>G (p.Tyr830Cys)
c.2081A>G (p.Tyr694Cys)
n.4570A>G
c.975A>G
c.7955A>G (p.Tyr2652Cys)
c.7925A>G (p.Tyr2642Cys)
c.7862A>G (p.Tyr2621Cys)
c.6860A>G (p.Tyr2287Cys)
c.1308A>G
n.1521A>G
c.8061A>G (n.8061A>G)
c.910A>G
c.7916A>G (p.Tyr2639Cys)
c.7892A>G (p.Tyr2631Cys)
c.7952A>G (p.Tyr2651Cys)
c.7832A>G (p.Tyr2611Cys)
 gnomAD v4
17g.31357324A>TCA399203472NF1c.7907A>T (p.Tyr2636Phe)
c.2489A>T (p.Tyr830Phe)
c.2081A>T (p.Tyr694Phe)
n.4570A>T
c.975A>T
c.7955A>T (p.Tyr2652Phe)
c.7925A>T (p.Tyr2642Phe)
c.7862A>T (p.Tyr2621Phe)
c.6860A>T (p.Tyr2287Phe)
c.1308A>T
n.1521A>T
c.8061A>T (n.8061A>T)
c.910A>T
c.7916A>T (p.Tyr2639Phe)
c.7892A>T (p.Tyr2631Phe)
c.7952A>T (p.Tyr2651Phe)
c.7832A>T (p.Tyr2611Phe)
 dbSNP
17g.31357324_31357325insTCA2580093473NF1c.7907_7908insT (p.Ala2638SerfsTer16)
c.2489_2490insT (p.Ala832SerfsTer16)
c.2081_2082insT (p.Ala696SerfsTer16)
n.4570_4571insT
c.975_976insT
c.7955_7956insT (p.Ala2654SerfsTer16)
c.7925_7926insT (p.Ala2644SerfsTer16)
c.7862_7863insT (p.Ala2623SerfsTer16)
c.6860_6861insT (p.Ala2289SerfsTer16)
c.1308_1309insT
n.1521_1522insT
c.8061_8062insT (n.8061_8062insT)
c.910_911insT
c.7916_7917insT (p.Ala2641SerfsTer16)
c.7892_7893insT (p.Ala2633SerfsTer16)
c.7952_7953insT (p.Ala2653SerfsTer16)
c.7832_7833insT (p.Ala2613SerfsTer16)
 ClinVar
17g.31357325C>ACA399203473NF1c.7908C>A (p.Tyr2636Ter)
c.2490C>A (p.Tyr830Ter)
c.2082C>A (p.Tyr694Ter)
n.4571C>A
c.976C>A
c.7956C>A (p.Tyr2652Ter)
c.7926C>A (p.Tyr2642Ter)
c.7863C>A (p.Tyr2621Ter)
c.6861C>A (p.Tyr2287Ter)
c.1309C>A
n.1522C>A
c.8062C>A (n.8062C>A)
c.911C>A
c.7917C>A (p.Tyr2639Ter)
c.7893C>A (p.Tyr2631Ter)
c.7953C>A (p.Tyr2651Ter)
c.7833C>A (p.Tyr2611Ter)
 ClinVar
17g.31357325C=CA2255612070NF1c.7908C= (p.Tyr2636=)
c.2490C= (p.Tyr830=)
c.2082C= (p.Tyr694=)
n.4571C=
c.976C=
c.7956C= (p.Tyr2652=)
c.7926C= (p.Tyr2642=)
c.7863C= (p.Tyr2621=)
c.6861C= (p.Tyr2287=)
c.1309C=
n.1522C=
c.8062C= (n.8062C=)
c.911C=
c.7917C= (p.Tyr2639=)
c.7893C= (p.Tyr2631=)
c.7953C= (p.Tyr2651=)
c.7833C= (p.Tyr2611=)
17g.31357325C>GCA399203474NF1c.7908C>G (p.Tyr2636Ter)
c.2490C>G (p.Tyr830Ter)
c.2082C>G (p.Tyr694Ter)
n.4571C>G
c.976C>G
c.7956C>G (p.Tyr2652Ter)
c.7926C>G (p.Tyr2642Ter)
c.7863C>G (p.Tyr2621Ter)
c.6861C>G (p.Tyr2287Ter)
c.1309C>G
n.1522C>G
c.8062C>G (n.8062C>G)
c.911C>G
c.7917C>G (p.Tyr2639Ter)
c.7893C>G (p.Tyr2631Ter)
c.7953C>G (p.Tyr2651Ter)
c.7833C>G (p.Tyr2611Ter)
 ClinVar dbSNP
17g.31357325C>TCA499340803NF1c.7908C>T (p.Tyr2636=)
c.2490C>T (p.Tyr830=)
c.2082C>T (p.Tyr694=)
n.4571C>T
c.976C>T
c.7956C>T (p.Tyr2652=)
c.7926C>T (p.Tyr2642=)
c.7863C>T (p.Tyr2621=)
c.6861C>T (p.Tyr2287=)
c.1309C>T
n.1522C>T
c.8062C>T (n.8062C>T)
c.911C>T
c.7917C>T (p.Tyr2639=)
c.7893C>T (p.Tyr2631=)
c.7953C>T (p.Tyr2651=)
c.7833C>T (p.Tyr2611=)
 ClinVar
17g.31357325_31357326dupCA2576224015NF1c.7908_7909dup (p.Leu2637SerfsTer2)
c.2490_2491dup (p.Leu831SerfsTer2)
c.2082_2083dup (p.Leu695SerfsTer2)
n.4571_4572dup
c.976_977dup
c.7956_7957dup (p.Leu2653SerfsTer2)
c.7926_7927dup (p.Leu2643SerfsTer2)
c.7863_7864dup (p.Leu2622SerfsTer2)
c.6861_6862dup (p.Leu2288SerfsTer2)
c.1309_1310dup
n.1522_1523dup
c.8062_8063dup (n.8062_8063dup)
c.911_912dup
c.7917_7918dup (p.Leu2640SerfsTer2)
c.7893_7894dup (p.Leu2632SerfsTer2)
c.7953_7954dup (p.Leu2652SerfsTer2)
c.7833_7834dup (p.Leu2612SerfsTer2)
17g.31357326T>ACA399203476NF1c.7909T>A (p.Leu2637Ile)
c.2491T>A (p.Leu831Ile)
c.2083T>A (p.Leu695Ile)
n.4572T>A
c.977T>A
c.7957T>A (p.Leu2653Ile)
c.7927T>A (p.Leu2643Ile)
c.7864T>A (p.Leu2622Ile)
c.6862T>A (p.Leu2288Ile)
c.1310T>A
n.1523T>A
c.8063T>A (n.8063T>A)
c.912T>A
c.7918T>A (p.Leu2640Ile)
c.7894T>A (p.Leu2632Ile)
c.7954T>A (p.Leu2652Ile)
c.7834T>A (p.Leu2612Ile)
17g.31357326T>CCA499340811NF1c.7909T>C (p.Leu2637=)
c.2491T>C (p.Leu831=)
c.2083T>C (p.Leu695=)
n.4572T>C
c.977T>C
c.7957T>C (p.Leu2653=)
c.7927T>C (p.Leu2643=)
c.7864T>C (p.Leu2622=)
c.6862T>C (p.Leu2288=)
c.1310T>C
n.1523T>C
c.8063T>C (n.8063T>C)
c.912T>C
c.7918T>C (p.Leu2640=)
c.7894T>C (p.Leu2632=)
c.7954T>C (p.Leu2652=)
c.7834T>C (p.Leu2612=)
 dbSNP
17g.31357326T>GCA399203475NF1c.7909T>G (p.Leu2637Val)
c.2491T>G (p.Leu831Val)
c.2083T>G (p.Leu695Val)
n.4572T>G
c.977T>G
c.7957T>G (p.Leu2653Val)
c.7927T>G (p.Leu2643Val)
c.7864T>G (p.Leu2622Val)
c.6862T>G (p.Leu2288Val)
c.1310T>G
n.1523T>G
c.8063T>G (n.8063T>G)
c.912T>G
c.7918T>G (p.Leu2640Val)
c.7894T>G (p.Leu2632Val)
c.7954T>G (p.Leu2652Val)
c.7834T>G (p.Leu2612Val)
17g.31357327delCA2739267295NF1c.7910del (p.Leu2637Ter)
c.2492del (p.Leu831Ter)
c.2084del (p.Leu695Ter)
n.4573del
c.978del
c.7958del (p.Leu2653Ter)
c.7928del (p.Leu2643Ter)
c.7865del (p.Leu2622Ter)
c.6863del (p.Leu2288Ter)
c.1311del
n.1524del
c.8064del (n.8064del)
c.913del
c.7919del (p.Leu2640Ter)
c.7895del (p.Leu2632Ter)
c.7955del (p.Leu2652Ter)
c.7835del (p.Leu2612Ter)
 ClinVar
17g.31357327T>ACA399203477NF1c.7910T>A (p.Leu2637Ter)
c.2492T>A (p.Leu831Ter)
c.2084T>A (p.Leu695Ter)
n.4573T>A
c.978T>A
c.7958T>A (p.Leu2653Ter)
c.7928T>A (p.Leu2643Ter)
c.7865T>A (p.Leu2622Ter)
c.6863T>A (p.Leu2288Ter)
c.1311T>A
n.1524T>A
c.8064T>A (n.8064T>A)
c.913T>A
c.7919T>A (p.Leu2640Ter)
c.7895T>A (p.Leu2632Ter)
c.7955T>A (p.Leu2652Ter)
c.7835T>A (p.Leu2612Ter)
17g.31357327T>CCA399203479NF1c.7910T>C (p.Leu2637Ser)
c.2492T>C (p.Leu831Ser)
c.2084T>C (p.Leu695Ser)
n.4573T>C
c.978T>C
c.7958T>C (p.Leu2653Ser)
c.7928T>C (p.Leu2643Ser)
c.7865T>C (p.Leu2622Ser)
c.6863T>C (p.Leu2288Ser)
c.1311T>C
n.1524T>C
c.8064T>C (n.8064T>C)
c.913T>C
c.7919T>C (p.Leu2640Ser)
c.7895T>C (p.Leu2632Ser)
c.7955T>C (p.Leu2652Ser)
c.7835T>C (p.Leu2612Ser)
17g.31357327T>GCA399203478NF1c.7910T>G (p.Leu2637Ter)
c.2492T>G (p.Leu831Ter)
c.2084T>G (p.Leu695Ter)
n.4573T>G
c.978T>G
c.7958T>G (p.Leu2653Ter)
c.7928T>G (p.Leu2643Ter)
c.7865T>G (p.Leu2622Ter)
c.6863T>G (p.Leu2288Ter)
c.1311T>G
n.1524T>G
c.8064T>G (n.8064T>G)
c.913T>G
c.7919T>G (p.Leu2640Ter)
c.7895T>G (p.Leu2632Ter)
c.7955T>G (p.Leu2652Ter)
c.7835T>G (p.Leu2612Ter)
17g.31357327_31357328insGTCA2580093474NF1c.7910_7911insGT (p.Ala2638Ter)
c.2492_2493insGT (p.Ala832Ter)
c.2084_2085insGT (p.Ala696Ter)
n.4573_4574insGT
c.978_979insGT
c.7958_7959insGT (p.Ala2654Ter)
c.7928_7929insGT (p.Ala2644Ter)
c.7865_7866insGT (p.Ala2623Ter)
c.6863_6864insGT (p.Ala2289Ter)
c.1311_1312insGT
n.1524_1525insGT
c.8064_8065insGT (n.8064_8065insGT)
c.913_914insGT
c.7919_7920insGT (p.Ala2641Ter)
c.7895_7896insGT (p.Ala2633Ter)
c.7955_7956insGT (p.Ala2653Ter)
c.7835_7836insGT (p.Ala2613Ter)
 ClinVar
17g.31357328delCA645572286NF1c.7911del (p.Ala2638GlnfsTer?)
c.2493del (p.Ala832GlnfsTer?)
c.2085del (p.Ala696GlnfsTer?)
n.4574del
c.979del
c.7959del (p.Ala2654GlnfsTer?)
c.7929del (p.Ala2644GlnfsTer?)
c.7866del (p.Ala2623GlnfsTer?)
c.6864del (p.Ala2289GlnfsTer?)
c.1312del
n.1525del
c.8065del (n.8065del)
c.914del
c.7920del (p.Ala2641GlnfsTer?)
c.7896del (p.Ala2633GlnfsTer?)
c.7956del (p.Ala2653GlnfsTer?)
c.7836del (p.Ala2613GlnfsTer?)
 COSMIC
17g.31357328A>CCA399203480NF1c.7911A>C (p.Leu2637Phe)
c.2493A>C (p.Leu831Phe)
c.2085A>C (p.Leu695Phe)
n.4574A>C
c.979A>C
c.7959A>C (p.Leu2653Phe)
c.7929A>C (p.Leu2643Phe)
c.7866A>C (p.Leu2622Phe)
c.6864A>C (p.Leu2288Phe)
c.1312A>C
n.1525A>C
c.8065A>C (n.8065A>C)
c.914A>C
c.7920A>C (p.Leu2640Phe)
c.7896A>C (p.Leu2632Phe)
c.7956A>C (p.Leu2652Phe)
c.7836A>C (p.Leu2612Phe)
17g.31357328A>GCA499340818NF1c.7911A>G (p.Leu2637=)
c.2493A>G (p.Leu831=)
c.2085A>G (p.Leu695=)
n.4574A>G
c.979A>G
c.7959A>G (p.Leu2653=)
c.7929A>G (p.Leu2643=)
c.7866A>G (p.Leu2622=)
c.6864A>G (p.Leu2288=)
c.1312A>G
n.1525A>G
c.8065A>G (n.8065A>G)
c.914A>G
c.7920A>G (p.Leu2640=)
c.7896A>G (p.Leu2632=)
c.7956A>G (p.Leu2652=)
c.7836A>G (p.Leu2612=)
17g.31357328A>TCA399203481NF1c.7911A>T (p.Leu2637Phe)
c.2493A>T (p.Leu831Phe)
c.2085A>T (p.Leu695Phe)
n.4574A>T
c.979A>T
c.7959A>T (p.Leu2653Phe)
c.7929A>T (p.Leu2643Phe)
c.7866A>T (p.Leu2622Phe)
c.6864A>T (p.Leu2288Phe)
c.1312A>T
n.1525A>T
c.8065A>T (n.8065A>T)
c.914A>T
c.7920A>T (p.Leu2640Phe)
c.7896A>T (p.Leu2632Phe)
c.7956A>T (p.Leu2652Phe)
c.7836A>T (p.Leu2612Phe)
 dbSNP
17g.31357329delCA2695225544NF1c.7912del (p.Ala2638GlnfsTer?)
c.2494del (p.Ala832GlnfsTer?)
c.2086del (p.Ala696GlnfsTer?)
n.4575del
c.980del
c.7960del (p.Ala2654GlnfsTer?)
c.7930del (p.Ala2644GlnfsTer?)
c.7867del (p.Ala2623GlnfsTer?)
c.6865del (p.Ala2289GlnfsTer?)
c.1313del
n.1526del
c.8066del (n.8066del)
c.915del
c.7921del (p.Ala2641GlnfsTer?)
c.7897del (p.Ala2633GlnfsTer?)
c.7957del (p.Ala2653GlnfsTer?)
c.7837del (p.Ala2613GlnfsTer?)
17g.31357329G>ACA399203482NF1c.7912G>A (p.Ala2638Thr)
c.2494G>A (p.Ala832Thr)
c.2086G>A (p.Ala696Thr)
n.4575G>A
c.980G>A
c.7960G>A (p.Ala2654Thr)
c.7930G>A (p.Ala2644Thr)
c.7867G>A (p.Ala2623Thr)
c.6865G>A (p.Ala2289Thr)
c.1313G>A
n.1526G>A
c.8066G>A (n.8066G>A)
c.915G>A
c.7921G>A (p.Ala2641Thr)
c.7897G>A (p.Ala2633Thr)
c.7957G>A (p.Ala2653Thr)
c.7837G>A (p.Ala2613Thr)
 dbSNP
17g.31357329G>CCA399203483NF1c.7912G>C (p.Ala2638Pro)
c.2494G>C (p.Ala832Pro)
c.2086G>C (p.Ala696Pro)
n.4575G>C
c.980G>C
c.7960G>C (p.Ala2654Pro)
c.7930G>C (p.Ala2644Pro)
c.7867G>C (p.Ala2623Pro)
c.6865G>C (p.Ala2289Pro)
c.1313G>C
n.1526G>C
c.8066G>C (n.8066G>C)
c.915G>C
c.7921G>C (p.Ala2641Pro)
c.7897G>C (p.Ala2633Pro)
c.7957G>C (p.Ala2653Pro)
c.7837G>C (p.Ala2613Pro)
 ClinVar dbSNP
17g.31357329G=CA2255612077NF1c.7912G= (p.Ala2638=)
c.2494G= (p.Ala832=)
c.2086G= (p.Ala696=)
n.4575G=
c.980G=
c.7960G= (p.Ala2654=)
c.7930G= (p.Ala2644=)
c.7867G= (p.Ala2623=)
c.6865G= (p.Ala2289=)
c.1313G=
n.1526G=
c.8066G= (n.8066G=)
c.915G=
c.7921G= (p.Ala2641=)
c.7897G= (p.Ala2633=)
c.7957G= (p.Ala2653=)
c.7837G= (p.Ala2613=)
17g.31357329G>TCA399203484NF1c.7912G>T (p.Ala2638Ser)
c.2494G>T (p.Ala832Ser)
c.2086G>T (p.Ala696Ser)
n.4575G>T
c.980G>T
c.7960G>T (p.Ala2654Ser)
c.7930G>T (p.Ala2644Ser)
c.7867G>T (p.Ala2623Ser)
c.6865G>T (p.Ala2289Ser)
c.1313G>T
n.1526G>T
c.8066G>T (n.8066G>T)
c.915G>T
c.7921G>T (p.Ala2641Ser)
c.7897G>T (p.Ala2633Ser)
c.7957G>T (p.Ala2653Ser)
c.7837G>T (p.Ala2613Ser)
 dbSNP
17g.31357329dupCA2695225545NF1c.7912dup (p.Ala2638GlyfsTer16)
c.2494dup (p.Ala832GlyfsTer16)
c.2086dup (p.Ala696GlyfsTer16)
n.4575dup
c.980dup
c.7960dup (p.Ala2654GlyfsTer16)
c.7930dup (p.Ala2644GlyfsTer16)
c.7867dup (p.Ala2623GlyfsTer16)
c.6865dup (p.Ala2289GlyfsTer16)
c.1313dup
n.1526dup
c.8066dup (n.8066dup)
c.915dup
c.7921dup (p.Ala2641GlyfsTer16)
c.7897dup (p.Ala2633GlyfsTer16)
c.7957dup (p.Ala2653GlyfsTer16)
c.7837dup (p.Ala2613GlyfsTer16)
17g.31357330C>ACA399203485NF1c.7913C>A (p.Ala2638Glu)
c.2495C>A (p.Ala832Glu)
c.2087C>A (p.Ala696Glu)
n.4576C>A
c.981C>A
c.7961C>A (p.Ala2654Glu)
c.7931C>A (p.Ala2644Glu)
c.7868C>A (p.Ala2623Glu)
c.6866C>A (p.Ala2289Glu)
c.1314C>A
n.1527C>A
c.8067C>A (n.8067C>A)
c.916C>A
c.7922C>A (p.Ala2641Glu)
c.7898C>A (p.Ala2633Glu)
c.7958C>A (p.Ala2653Glu)
c.7838C>A (p.Ala2613Glu)
 ClinVar dbSNP
17g.31357330C=CA2255612092NF1c.7913C= (p.Ala2638=)
c.2495C= (p.Ala832=)
c.2087C= (p.Ala696=)
n.4576C=
c.981C=
c.7961C= (p.Ala2654=)
c.7931C= (p.Ala2644=)
c.7868C= (p.Ala2623=)
c.6866C= (p.Ala2289=)
c.1314C=
n.1527C=
c.8067C= (n.8067C=)
c.916C=
c.7922C= (p.Ala2641=)
c.7898C= (p.Ala2633=)
c.7958C= (p.Ala2653=)
c.7838C= (p.Ala2613=)
17g.31357330C>GCA289710952NF1c.7913C>G (p.Ala2638Gly)
c.2495C>G (p.Ala832Gly)
c.2087C>G (p.Ala696Gly)
n.4576C>G
c.981C>G
c.7961C>G (p.Ala2654Gly)
c.7931C>G (p.Ala2644Gly)
c.7868C>G (p.Ala2623Gly)
c.6866C>G (p.Ala2289Gly)
c.1314C>G
n.1527C>G
c.8067C>G (n.8067C>G)
c.916C>G
c.7922C>G (p.Ala2641Gly)
c.7898C>G (p.Ala2633Gly)
c.7958C>G (p.Ala2653Gly)
c.7838C>G (p.Ala2613Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31357330C>TCA399203486NF1c.7913C>T (p.Ala2638Val)
c.2495C>T (p.Ala832Val)
c.2087C>T (p.Ala696Val)
n.4576C>T
c.981C>T
c.7961C>T (p.Ala2654Val)
c.7931C>T (p.Ala2644Val)
c.7868C>T (p.Ala2623Val)
c.6866C>T (p.Ala2289Val)
c.1314C>T
n.1527C>T
c.8067C>T (n.8067C>T)
c.916C>T
c.7922C>T (p.Ala2641Val)
c.7898C>T (p.Ala2633Val)
c.7958C>T (p.Ala2653Val)
c.7838C>T (p.Ala2613Val)
 dbSNP
17g.31357330dupCA10583528NF1c.7913dup (p.Glu2639ArgfsTer15)
c.2495dup (p.Glu833ArgfsTer15)
c.2087dup (p.Glu697ArgfsTer15)
n.4576dup
c.981dup
c.7961dup (p.Glu2655ArgfsTer15)
c.7931dup (p.Glu2645ArgfsTer15)
c.7868dup (p.Glu2624ArgfsTer15)
c.6866dup (p.Glu2290ArgfsTer15)
c.1314dup
n.1527dup
c.8067dup (n.8067dup)
c.916dup
c.7922dup (p.Glu2642ArgfsTer15)
c.7898dup (p.Glu2634ArgfsTer15)
c.7958dup (p.Glu2654ArgfsTer15)
c.7838dup (p.Glu2614ArgfsTer15)
 ClinVar dbSNP
17g.31357331A=CA2255612100NF1c.7914A= (p.Ala2638=)
c.2496A= (p.Ala832=)
c.2088A= (p.Ala696=)
n.4577A=
c.982A=
c.7962A= (p.Ala2654=)
c.7932A= (p.Ala2644=)
c.7869A= (p.Ala2623=)
c.6867A= (p.Ala2289=)
c.1315A=
n.1528A=
c.8068A= (n.8068A=)
c.917A=
c.7923A= (p.Ala2641=)
c.7899A= (p.Ala2633=)
c.7959A= (p.Ala2653=)
c.7839A= (p.Ala2613=)
17g.31357331A>CCA499340831NF1c.7914A>C (p.Ala2638=)
c.2496A>C (p.Ala832=)
c.2088A>C (p.Ala696=)
n.4577A>C
c.982A>C
c.7962A>C (p.Ala2654=)
c.7932A>C (p.Ala2644=)
c.7869A>C (p.Ala2623=)
c.6867A>C (p.Ala2289=)
c.1315A>C
n.1528A>C
c.8068A>C (n.8068A>C)
c.917A>C
c.7923A>C (p.Ala2641=)
c.7899A>C (p.Ala2633=)
c.7959A>C (p.Ala2653=)
c.7839A>C (p.Ala2613=)
17g.31357331A>GCA499340833NF1c.7914A>G (p.Ala2638=)
c.2496A>G (p.Ala832=)
c.2088A>G (p.Ala696=)
n.4577A>G
c.982A>G
c.7962A>G (p.Ala2654=)
c.7932A>G (p.Ala2644=)
c.7869A>G (p.Ala2623=)
c.6867A>G (p.Ala2289=)
c.1315A>G
n.1528A>G
c.8068A>G (n.8068A>G)
c.917A>G
c.7923A>G (p.Ala2641=)
c.7899A>G (p.Ala2633=)
c.7959A>G (p.Ala2653=)
c.7839A>G (p.Ala2613=)
 dbSNP
17g.31357331A>TCA499340835NF1c.7914A>T (p.Ala2638=)
c.2496A>T (p.Ala832=)
c.2088A>T (p.Ala696=)
n.4577A>T
c.982A>T
c.7962A>T (p.Ala2654=)
c.7932A>T (p.Ala2644=)
c.7869A>T (p.Ala2623=)
c.6867A>T (p.Ala2289=)
c.1315A>T
n.1528A>T
c.8068A>T (n.8068A>T)
c.917A>T
c.7923A>T (p.Ala2641=)
c.7899A>T (p.Ala2633=)
c.7959A>T (p.Ala2653=)
c.7839A>T (p.Ala2613=)
17g.31357332G>ACA399203487NF1c.7915G>A (p.Glu2639Lys)
c.2497G>A (p.Glu833Lys)
c.2089G>A (p.Glu697Lys)
n.4578G>A
c.983G>A
c.7963G>A (p.Glu2655Lys)
c.7933G>A (p.Glu2645Lys)
c.7870G>A (p.Glu2624Lys)
c.6868G>A (p.Glu2290Lys)
c.1316G>A
n.1529G>A
c.8069G>A (n.8069G>A)
c.918G>A
c.7924G>A (p.Glu2642Lys)
c.7900G>A (p.Glu2634Lys)
c.7960G>A (p.Glu2654Lys)
c.7840G>A (p.Glu2614Lys)
 ClinVar dbSNP
17g.31357332G>CCA399203488NF1c.7915G>C (p.Glu2639Gln)
c.2497G>C (p.Glu833Gln)
c.2089G>C (p.Glu697Gln)
n.4578G>C
c.983G>C
c.7963G>C (p.Glu2655Gln)
c.7933G>C (p.Glu2645Gln)
c.7870G>C (p.Glu2624Gln)
c.6868G>C (p.Glu2290Gln)
c.1316G>C
n.1529G>C
c.8069G>C (n.8069G>C)
c.918G>C
c.7924G>C (p.Glu2642Gln)
c.7900G>C (p.Glu2634Gln)
c.7960G>C (p.Glu2654Gln)
c.7840G>C (p.Glu2614Gln)
 dbSNP gnomAD v4
17g.31357332G>TCA399203489NF1c.7915G>T (p.Glu2639Ter)
c.2497G>T (p.Glu833Ter)
c.2089G>T (p.Glu697Ter)
n.4578G>T
c.983G>T
c.7963G>T (p.Glu2655Ter)
c.7933G>T (p.Glu2645Ter)
c.7870G>T (p.Glu2624Ter)
c.6868G>T (p.Glu2290Ter)
c.1316G>T
n.1529G>T
c.8069G>T (n.8069G>T)
c.918G>T
c.7924G>T (p.Glu2642Ter)
c.7900G>T (p.Glu2634Ter)
c.7960G>T (p.Glu2654Ter)
c.7840G>T (p.Glu2614Ter)
17g.31357333A>CCA399203492NF1c.7916A>C (p.Glu2639Ala)
c.2498A>C (p.Glu833Ala)
c.2090A>C (p.Glu697Ala)
n.4579A>C
c.984A>C
c.7964A>C (p.Glu2655Ala)
c.7934A>C (p.Glu2645Ala)
c.7871A>C (p.Glu2624Ala)
c.6869A>C (p.Glu2290Ala)
c.1317A>C
n.1530A>C
c.8070A>C (n.8070A>C)
c.919A>C
c.7925A>C (p.Glu2642Ala)
c.7901A>C (p.Glu2634Ala)
c.7961A>C (p.Glu2654Ala)
c.7841A>C (p.Glu2614Ala)
17g.31357333A>GCA399203490NF1c.7916A>G (p.Glu2639Gly)
c.2498A>G (p.Glu833Gly)
c.2090A>G (p.Glu697Gly)
n.4579A>G
c.984A>G
c.7964A>G (p.Glu2655Gly)
c.7934A>G (p.Glu2645Gly)
c.7871A>G (p.Glu2624Gly)
c.6869A>G (p.Glu2290Gly)
c.1317A>G
n.1530A>G
c.8070A>G (n.8070A>G)
c.919A>G
c.7925A>G (p.Glu2642Gly)
c.7901A>G (p.Glu2634Gly)
c.7961A>G (p.Glu2654Gly)
c.7841A>G (p.Glu2614Gly)
 ClinVar
17g.31357333A>TCA399203491NF1c.7916A>T (p.Glu2639Val)
c.2498A>T (p.Glu833Val)
c.2090A>T (p.Glu697Val)
n.4579A>T
c.984A>T
c.7964A>T (p.Glu2655Val)
c.7934A>T (p.Glu2645Val)
c.7871A>T (p.Glu2624Val)
c.6869A>T (p.Glu2290Val)
c.1317A>T
n.1530A>T
c.8070A>T (n.8070A>T)
c.919A>T
c.7925A>T (p.Glu2642Val)
c.7901A>T (p.Glu2634Val)
c.7961A>T (p.Glu2654Val)
c.7841A>T (p.Glu2614Val)
 dbSNP
17g.31357333_31357334insCCA2739267296NF1c.7916_7917insC (p.Glu2639AspfsTer15)
c.2498_2499insC (p.Glu833AspfsTer15)
c.2090_2091insC (p.Glu697AspfsTer15)
n.4579_4580insC
c.984_985insC
c.7964_7965insC (p.Glu2655AspfsTer15)
c.7934_7935insC (p.Glu2645AspfsTer15)
c.7871_7872insC (p.Glu2624AspfsTer15)
c.6869_6870insC (p.Glu2290AspfsTer15)
c.1317_1318insC
n.1530_1531insC
c.8070_8071insC (n.8070_8071insC)
c.919_920insC
c.7925_7926insC (p.Glu2642AspfsTer15)
c.7901_7902insC (p.Glu2634AspfsTer15)
c.7961_7962insC (p.Glu2654AspfsTer15)
c.7841_7842insC (p.Glu2614AspfsTer15)
 ClinVar
17g.31357334G>ACA499340848NF1c.7917G>A (p.Glu2639=)
c.2499G>A (p.Glu833=)
c.2091G>A (p.Glu697=)
n.4580G>A
c.985G>A
c.7965G>A (p.Glu2655=)
c.7935G>A (p.Glu2645=)
c.7872G>A (p.Glu2624=)
c.6870G>A (p.Glu2290=)
c.1318G>A
n.1531G>A
c.8071G>A (n.8071G>A)
c.920G>A
c.7926G>A (p.Glu2642=)
c.7902G>A (p.Glu2634=)
c.7962G>A (p.Glu2654=)
c.7842G>A (p.Glu2614=)
 ClinVar dbSNP gnomAD v4
17g.31357334G>CCA399203493NF1c.7917G>C (p.Glu2639Asp)
c.2499G>C (p.Glu833Asp)
c.2091G>C (p.Glu697Asp)
n.4580G>C
c.985G>C
c.7965G>C (p.Glu2655Asp)
c.7935G>C (p.Glu2645Asp)
c.7872G>C (p.Glu2624Asp)
c.6870G>C (p.Glu2290Asp)
c.1318G>C
n.1531G>C
c.8071G>C (n.8071G>C)
c.920G>C
c.7926G>C (p.Glu2642Asp)
c.7902G>C (p.Glu2634Asp)
c.7962G>C (p.Glu2654Asp)
c.7842G>C (p.Glu2614Asp)
 dbSNP
17g.31357334G>TCA399203494NF1c.7917G>T (p.Glu2639Asp)
c.2499G>T (p.Glu833Asp)
c.2091G>T (p.Glu697Asp)
n.4580G>T
c.985G>T
c.7965G>T (p.Glu2655Asp)
c.7935G>T (p.Glu2645Asp)
c.7872G>T (p.Glu2624Asp)
c.6870G>T (p.Glu2290Asp)
c.1318G>T
n.1531G>T
c.8071G>T (n.8071G>T)
c.920G>T
c.7926G>T (p.Glu2642Asp)
c.7902G>T (p.Glu2634Asp)
c.7962G>T (p.Glu2654Asp)
c.7842G>T (p.Glu2614Asp)
 dbSNP
17g.31357335G>ACA399203495NF1c.7918G>A (p.Ala2640Thr)
c.2500G>A (p.Ala834Thr)
c.2092G>A (p.Ala698Thr)
n.4581G>A
c.986G>A
c.7966G>A (p.Ala2656Thr)
c.7936G>A (p.Ala2646Thr)
c.7873G>A (p.Ala2625Thr)
c.6871G>A (p.Ala2291Thr)
c.1319G>A
n.1532G>A
c.8072G>A (n.8072G>A)
c.921G>A
c.7927G>A (p.Ala2643Thr)
c.7903G>A (p.Ala2635Thr)
c.7963G>A (p.Ala2655Thr)
c.7843G>A (p.Ala2615Thr)
 dbSNP COSMIC COSMIC COSMIC
17g.31357335G>CCA399203496NF1c.7918G>C (p.Ala2640Pro)
c.2500G>C (p.Ala834Pro)
c.2092G>C (p.Ala698Pro)
n.4581G>C
c.986G>C
c.7966G>C (p.Ala2656Pro)
c.7936G>C (p.Ala2646Pro)
c.7873G>C (p.Ala2625Pro)
c.6871G>C (p.Ala2291Pro)
c.1319G>C
n.1532G>C
c.8072G>C (n.8072G>C)
c.921G>C
c.7927G>C (p.Ala2643Pro)
c.7903G>C (p.Ala2635Pro)
c.7963G>C (p.Ala2655Pro)
c.7843G>C (p.Ala2615Pro)
 dbSNP
17g.31357335G>TCA399203497NF1c.7918G>T (p.Ala2640Ser)
c.2500G>T (p.Ala834Ser)
c.2092G>T (p.Ala698Ser)
n.4581G>T
c.986G>T
c.7966G>T (p.Ala2656Ser)
c.7936G>T (p.Ala2646Ser)
c.7873G>T (p.Ala2625Ser)
c.6871G>T (p.Ala2291Ser)
c.1319G>T
n.1532G>T
c.8072G>T (n.8072G>T)
c.921G>T
c.7927G>T (p.Ala2643Ser)
c.7903G>T (p.Ala2635Ser)
c.7963G>T (p.Ala2655Ser)
c.7843G>T (p.Ala2615Ser)
17g.31357336C>ACA399203498NF1c.7919C>A (p.Ala2640Asp)
c.2501C>A (p.Ala834Asp)
c.2093C>A (p.Ala698Asp)
n.4582C>A
c.987C>A
c.7967C>A (p.Ala2656Asp)
c.7937C>A (p.Ala2646Asp)
c.7874C>A (p.Ala2625Asp)
c.6872C>A (p.Ala2291Asp)
c.1320C>A
n.1533C>A
c.8073C>A (n.8073C>A)
c.922C>A
c.7928C>A (p.Ala2643Asp)
c.7904C>A (p.Ala2635Asp)
c.7964C>A (p.Ala2655Asp)
c.7844C>A (p.Ala2615Asp)
 dbSNP
17g.31357336C>GCA399203499NF1c.7919C>G (p.Ala2640Gly)
c.2501C>G (p.Ala834Gly)
c.2093C>G (p.Ala698Gly)
n.4582C>G
c.987C>G
c.7967C>G (p.Ala2656Gly)
c.7937C>G (p.Ala2646Gly)
c.7874C>G (p.Ala2625Gly)
c.6872C>G (p.Ala2291Gly)
c.1320C>G
n.1533C>G
c.8073C>G (n.8073C>G)
c.922C>G
c.7928C>G (p.Ala2643Gly)
c.7904C>G (p.Ala2635Gly)
c.7964C>G (p.Ala2655Gly)
c.7844C>G (p.Ala2615Gly)
 dbSNP
17g.31357336C>TCA399203500NF1c.7919C>T (p.Ala2640Val)
c.2501C>T (p.Ala834Val)
c.2093C>T (p.Ala698Val)
n.4582C>T
c.987C>T
c.7967C>T (p.Ala2656Val)
c.7937C>T (p.Ala2646Val)
c.7874C>T (p.Ala2625Val)
c.6872C>T (p.Ala2291Val)
c.1320C>T
n.1533C>T
c.8073C>T (n.8073C>T)
c.922C>T
c.7928C>T (p.Ala2643Val)
c.7904C>T (p.Ala2635Val)
c.7964C>T (p.Ala2655Val)
c.7844C>T (p.Ala2615Val)
 ClinVar dbSNP
17g.31357336_31357337dupCA2695225546NF1c.7919_7920dup (p.Ser2641ProfsTer?)
c.2501_2502dup (p.Ser835ProfsTer?)
c.2093_2094dup (p.Ser699ProfsTer?)
n.4582_4583dup
c.987_988dup
c.7967_7968dup (p.Ser2657ProfsTer?)
c.7937_7938dup (p.Ser2647ProfsTer?)
c.7874_7875dup (p.Ser2626ProfsTer?)
c.6872_6873dup (p.Ser2292ProfsTer?)
c.1320_1321dup
n.1533_1534dup
c.8073_8074dup (n.8073_8074dup)
c.922_923dup
c.7928_7929dup (p.Ser2644ProfsTer?)
c.7904_7905dup (p.Ser2636ProfsTer?)
c.7964_7965dup (p.Ser2656ProfsTer?)
c.7844_7845dup (p.Ser2616ProfsTer?)
17g.31357337C>ACA499340862NF1c.7920C>A (p.Ala2640=)
c.2502C>A (p.Ala834=)
c.2094C>A (p.Ala698=)
n.4583C>A
c.988C>A
c.7968C>A (p.Ala2656=)
c.7938C>A (p.Ala2646=)
c.7875C>A (p.Ala2625=)
c.6873C>A (p.Ala2291=)
c.1321C>A
n.1534C>A
c.8074C>A (n.8074C>A)
c.923C>A
c.7929C>A (p.Ala2643=)
c.7905C>A (p.Ala2635=)
c.7965C>A (p.Ala2655=)
c.7845C>A (p.Ala2615=)
17g.31357337C=CA2255612104NF1c.7920C= (p.Ala2640=)
c.2502C= (p.Ala834=)
c.2094C= (p.Ala698=)
n.4583C=
c.988C=
c.7968C= (p.Ala2656=)
c.7938C= (p.Ala2646=)
c.7875C= (p.Ala2625=)
c.6873C= (p.Ala2291=)
c.1321C=
n.1534C=
c.8074C= (n.8074C=)
c.923C=
c.7929C= (p.Ala2643=)
c.7905C= (p.Ala2635=)
c.7965C= (p.Ala2655=)
c.7845C= (p.Ala2615=)
17g.31357337C>GCA499340866NF1c.7920C>G (p.Ala2640=)
c.2502C>G (p.Ala834=)
c.2094C>G (p.Ala698=)
n.4583C>G
c.988C>G
c.7968C>G (p.Ala2656=)
c.7938C>G (p.Ala2646=)
c.7875C>G (p.Ala2625=)
c.6873C>G (p.Ala2291=)
c.1321C>G
n.1534C>G
c.8074C>G (n.8074C>G)
c.923C>G
c.7929C>G (p.Ala2643=)
c.7905C>G (p.Ala2635=)
c.7965C>G (p.Ala2655=)
c.7845C>G (p.Ala2615=)
 dbSNP
17g.31357337C>TCA499340863NF1c.7920C>T (p.Ala2640=)
c.2502C>T (p.Ala834=)
c.2094C>T (p.Ala698=)
n.4583C>T
c.988C>T
c.7968C>T (p.Ala2656=)
c.7938C>T (p.Ala2646=)
c.7875C>T (p.Ala2625=)
c.6873C>T (p.Ala2291=)
c.1321C>T
n.1534C>T
c.8074C>T (n.8074C>T)
c.923C>T
c.7929C>T (p.Ala2643=)
c.7905C>T (p.Ala2635=)
c.7965C>T (p.Ala2655=)
c.7845C>T (p.Ala2615=)
 ClinVar dbSNP gnomAD v4
17g.31357338delCA2739267297NF1c.7921del (p.Ser2641ValfsTer?)
c.2503del (p.Ser835ValfsTer?)
c.2095del (p.Ser699ValfsTer?)
n.4584del
c.989del
c.7969del (p.Ser2657ValfsTer?)
c.7939del (p.Ser2647ValfsTer?)
c.7876del (p.Ser2626ValfsTer?)
c.6874del (p.Ser2292ValfsTer?)
c.1322del
n.1535del
c.8075del (n.8075del)
c.924del
c.7930del (p.Ser2644ValfsTer?)
c.7906del (p.Ser2636ValfsTer?)
c.7966del (p.Ser2656ValfsTer?)
c.7846del (p.Ser2616ValfsTer?)
 ClinVar
17g.31357338A>CCA399203501NF1c.7921A>C (p.Ser2641Arg)
c.2503A>C (p.Ser835Arg)
c.2095A>C (p.Ser699Arg)
n.4584A>C
c.989A>C
c.7969A>C (p.Ser2657Arg)
c.7939A>C (p.Ser2647Arg)
c.7876A>C (p.Ser2626Arg)
c.6874A>C (p.Ser2292Arg)
c.1322A>C
n.1535A>C
c.8075A>C (n.8075A>C)
c.924A>C
c.7930A>C (p.Ser2644Arg)
c.7906A>C (p.Ser2636Arg)
c.7966A>C (p.Ser2656Arg)
c.7846A>C (p.Ser2616Arg)
17g.31357338A>GCA399203502NF1c.7921A>G (p.Ser2641Gly)
c.2503A>G (p.Ser835Gly)
c.2095A>G (p.Ser699Gly)
n.4584A>G
c.989A>G
c.7969A>G (p.Ser2657Gly)
c.7939A>G (p.Ser2647Gly)
c.7876A>G (p.Ser2626Gly)
c.6874A>G (p.Ser2292Gly)
c.1322A>G
n.1535A>G
c.8075A>G (n.8075A>G)
c.924A>G
c.7930A>G (p.Ser2644Gly)
c.7906A>G (p.Ser2636Gly)
c.7966A>G (p.Ser2656Gly)
c.7846A>G (p.Ser2616Gly)
 gnomAD v4
17g.31357338A>TCA399203503NF1c.7921A>T (p.Ser2641Cys)
c.2503A>T (p.Ser835Cys)
c.2095A>T (p.Ser699Cys)
n.4584A>T
c.989A>T
c.7969A>T (p.Ser2657Cys)
c.7939A>T (p.Ser2647Cys)
c.7876A>T (p.Ser2626Cys)
c.6874A>T (p.Ser2292Cys)
c.1322A>T
n.1535A>T
c.8075A>T (n.8075A>T)
c.924A>T
c.7930A>T (p.Ser2644Cys)
c.7906A>T (p.Ser2636Cys)
c.7966A>T (p.Ser2656Cys)
c.7846A>T (p.Ser2616Cys)
 dbSNP
17g.31357339delCA891842419NF1c.7922del (p.Ser2641MetfsTer?)
c.2504del (p.Ser835MetfsTer?)
c.2096del (p.Ser699MetfsTer?)
n.4585del
c.990del
c.7970del (p.Ser2657MetfsTer?)
c.7940del (p.Ser2647MetfsTer?)
c.7877del (p.Ser2626MetfsTer?)
c.6875del (p.Ser2292MetfsTer?)
c.1323del
n.1536del
c.8076del (n.8076del)
c.925del
c.7931del (p.Ser2644MetfsTer?)
c.7907del (p.Ser2636MetfsTer?)
c.7967del (p.Ser2656MetfsTer?)
c.7847del (p.Ser2616MetfsTer?)
17g.31357339G>ACA399203505NF1c.7922G>A (p.Ser2641Asn)
c.2504G>A (p.Ser835Asn)
c.2096G>A (p.Ser699Asn)
n.4585G>A
c.990G>A
c.7970G>A (p.Ser2657Asn)
c.7940G>A (p.Ser2647Asn)
c.7877G>A (p.Ser2626Asn)
c.6875G>A (p.Ser2292Asn)
c.1323G>A
n.1536G>A
c.8076G>A (n.8076G>A)
c.925G>A
c.7931G>A (p.Ser2644Asn)
c.7907G>A (p.Ser2636Asn)
c.7967G>A (p.Ser2656Asn)
c.7847G>A (p.Ser2616Asn)
 ClinVar
17g.31357339G>CCA399203506NF1c.7922G>C (p.Ser2641Thr)
c.2504G>C (p.Ser835Thr)
c.2096G>C (p.Ser699Thr)
n.4585G>C
c.990G>C
c.7970G>C (p.Ser2657Thr)
c.7940G>C (p.Ser2647Thr)
c.7877G>C (p.Ser2626Thr)
c.6875G>C (p.Ser2292Thr)
c.1323G>C
n.1536G>C
c.8076G>C (n.8076G>C)
c.925G>C
c.7931G>C (p.Ser2644Thr)
c.7907G>C (p.Ser2636Thr)
c.7967G>C (p.Ser2656Thr)
c.7847G>C (p.Ser2616Thr)
 dbSNP
17g.31357339G>TCA399203504NF1c.7922G>T (p.Ser2641Ile)
c.2504G>T (p.Ser835Ile)
c.2096G>T (p.Ser699Ile)
n.4585G>T
c.990G>T
c.7970G>T (p.Ser2657Ile)
c.7940G>T (p.Ser2647Ile)
c.7877G>T (p.Ser2626Ile)
c.6875G>T (p.Ser2292Ile)
c.1323G>T
n.1536G>T
c.8076G>T (n.8076G>T)
c.925G>T
c.7931G>T (p.Ser2644Ile)
c.7907G>T (p.Ser2636Ile)
c.7967G>T (p.Ser2656Ile)
c.7847G>T (p.Ser2616Ile)
 gnomAD v4
17g.31357340delCA2695225547NF1c.7923del (p.Ser2641ArgfsTer?)
c.2505del (p.Ser835ArgfsTer?)
c.2097del (p.Ser699ArgfsTer?)
n.4586del
c.991del
c.7971del (p.Ser2657ArgfsTer?)
c.7941del (p.Ser2647ArgfsTer?)
c.7878del (p.Ser2626ArgfsTer?)
c.6876del (p.Ser2292ArgfsTer?)
c.1324del
n.1537del
c.8077del (n.8077del)
c.926del
c.7932del (p.Ser2644ArgfsTer?)
c.7908del (p.Ser2636ArgfsTer?)
c.7968del (p.Ser2656ArgfsTer?)
c.7848del (p.Ser2616ArgfsTer?)
17g.31357340T>ACA399203507NF1c.7923T>A (p.Ser2641Arg)
c.2505T>A (p.Ser835Arg)
c.2097T>A (p.Ser699Arg)
n.4586T>A
c.991T>A
c.7971T>A (p.Ser2657Arg)
c.7941T>A (p.Ser2647Arg)
c.7878T>A (p.Ser2626Arg)
c.6876T>A (p.Ser2292Arg)
c.1324T>A
n.1537T>A
c.8077T>A (n.8077T>A)
c.926T>A
c.7932T>A (p.Ser2644Arg)
c.7908T>A (p.Ser2636Arg)
c.7968T>A (p.Ser2656Arg)
c.7848T>A (p.Ser2616Arg)
 dbSNP
17g.31357340T>CCA499340880NF1c.7923T>C (p.Ser2641=)
c.2505T>C (p.Ser835=)
c.2097T>C (p.Ser699=)
n.4586T>C
c.991T>C
c.7971T>C (p.Ser2657=)
c.7941T>C (p.Ser2647=)
c.7878T>C (p.Ser2626=)
c.6876T>C (p.Ser2292=)
c.1324T>C
n.1537T>C
c.8077T>C (n.8077T>C)
c.926T>C
c.7932T>C (p.Ser2644=)
c.7908T>C (p.Ser2636=)
c.7968T>C (p.Ser2656=)
c.7848T>C (p.Ser2616=)
 ClinVar dbSNP gnomAD v4
17g.31357340T>GCA399203508NF1c.7923T>G (p.Ser2641Arg)
c.2505T>G (p.Ser835Arg)
c.2097T>G (p.Ser699Arg)
n.4586T>G
c.991T>G
c.7971T>G (p.Ser2657Arg)
c.7941T>G (p.Ser2647Arg)
c.7878T>G (p.Ser2626Arg)
c.6876T>G (p.Ser2292Arg)
c.1324T>G
n.1537T>G
c.8077T>G (n.8077T>G)
c.926T>G
c.7932T>G (p.Ser2644Arg)
c.7908T>G (p.Ser2636Arg)
c.7968T>G (p.Ser2656Arg)
c.7848T>G (p.Ser2616Arg)
17g.31357341G>ACA399203509NF1c.7924G>A (p.Val2642Ile)
c.2506G>A (p.Val836Ile)
c.2098G>A (p.Val700Ile)
n.4587G>A
c.992G>A
c.7972G>A (p.Val2658Ile)
c.7942G>A (p.Val2648Ile)
c.7879G>A (p.Val2627Ile)
c.6877G>A (p.Val2293Ile)
c.1325G>A
n.1538G>A
c.8078G>A (n.8078G>A)
c.927G>A
c.7933G>A (p.Val2645Ile)
c.7909G>A (p.Val2637Ile)
c.7969G>A (p.Val2657Ile)
c.7849G>A (p.Val2617Ile)
 gnomAD v4
17g.31357341G>CCA399203510NF1c.7924G>C (p.Val2642Leu)
c.2506G>C (p.Val836Leu)
c.2098G>C (p.Val700Leu)
n.4587G>C
c.992G>C
c.7972G>C (p.Val2658Leu)
c.7942G>C (p.Val2648Leu)
c.7879G>C (p.Val2627Leu)
c.6877G>C (p.Val2293Leu)
c.1325G>C
n.1538G>C
c.8078G>C (n.8078G>C)
c.927G>C
c.7933G>C (p.Val2645Leu)
c.7909G>C (p.Val2637Leu)
c.7969G>C (p.Val2657Leu)
c.7849G>C (p.Val2617Leu)
 dbSNP
17g.31357341G>TCA399203511NF1c.7924G>T (p.Val2642Phe)
c.2506G>T (p.Val836Phe)
c.2098G>T (p.Val700Phe)
n.4587G>T
c.992G>T
c.7972G>T (p.Val2658Phe)
c.7942G>T (p.Val2648Phe)
c.7879G>T (p.Val2627Phe)
c.6877G>T (p.Val2293Phe)
c.1325G>T
n.1538G>T
c.8078G>T (n.8078G>T)
c.927G>T
c.7933G>T (p.Val2645Phe)
c.7909G>T (p.Val2637Phe)
c.7969G>T (p.Val2657Phe)
c.7849G>T (p.Val2617Phe)
17g.31357342T>ACA399203514NF1c.7925T>A (p.Val2642Asp)
c.2507T>A (p.Val836Asp)
c.2099T>A (p.Val700Asp)
n.4588T>A
c.993T>A
c.7973T>A (p.Val2658Asp)
c.7943T>A (p.Val2648Asp)
c.7880T>A (p.Val2627Asp)
c.6878T>A (p.Val2293Asp)
c.1326T>A
n.1539T>A
c.8079T>A (n.8079T>A)
c.928T>A
c.7934T>A (p.Val2645Asp)
c.7910T>A (p.Val2637Asp)
c.7970T>A (p.Val2657Asp)
c.7850T>A (p.Val2617Asp)
 dbSNP
17g.31357342T>CCA399203513NF1c.7925T>C (p.Val2642Ala)
c.2507T>C (p.Val836Ala)
c.2099T>C (p.Val700Ala)
n.4588T>C
c.993T>C
c.7973T>C (p.Val2658Ala)
c.7943T>C (p.Val2648Ala)
c.7880T>C (p.Val2627Ala)
c.6878T>C (p.Val2293Ala)
c.1326T>C
n.1539T>C
c.8079T>C (n.8079T>C)
c.928T>C
c.7934T>C (p.Val2645Ala)
c.7910T>C (p.Val2637Ala)
c.7970T>C (p.Val2657Ala)
c.7850T>C (p.Val2617Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31357342T>GCA399203512NF1c.7925T>G (p.Val2642Gly)
c.2507T>G (p.Val836Gly)
c.2099T>G (p.Val700Gly)
n.4588T>G
c.993T>G
c.7973T>G (p.Val2658Gly)
c.7943T>G (p.Val2648Gly)
c.7880T>G (p.Val2627Gly)
c.6878T>G (p.Val2293Gly)
c.1326T>G
n.1539T>G
c.8079T>G (n.8079T>G)
c.928T>G
c.7934T>G (p.Val2645Gly)
c.7910T>G (p.Val2637Gly)
c.7970T>G (p.Val2657Gly)
c.7850T>G (p.Val2617Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.31357342T=CA2255612114NF1c.7925T= (p.Val2642=)
c.2507T= (p.Val836=)
c.2099T= (p.Val700=)
n.4588T=
c.993T=
c.7973T= (p.Val2658=)
c.7943T= (p.Val2648=)
c.7880T= (p.Val2627=)
c.6878T= (p.Val2293=)
c.1326T=
n.1539T=
c.8079T= (n.8079T=)
c.928T=
c.7934T= (p.Val2645=)
c.7910T= (p.Val2637=)
c.7970T= (p.Val2657=)
c.7850T= (p.Val2617=)
17g.31357342_31357344delinsTTGCA2255612116NF1c.7925_7927delinsTTG (p.Val2642=)
c.2507_2509delinsTTG (p.Val836=)
c.2099_2101delinsTTG (p.Val700=)
n.4588_4590delinsTTG
c.993_995delinsTTG
c.7973_7975delinsTTG (p.Val2658=)
c.7943_7945delinsTTG (p.Val2648=)
c.7880_7882delinsTTG (p.Val2627=)
c.6878_6880delinsTTG (p.Val2293=)
c.1326_1328delinsTTG
n.1539_1541delinsTTG
c.8079_8081delinsTTG (n.8079_8081delinsTTG)
c.928_930delinsTTG
c.7934_7936delinsTTG (p.Val2645=)
c.7910_7912delinsTTG (p.Val2637=)
c.7970_7972delinsTTG (p.Val2657=)
c.7850_7852delinsTTG (p.Val2617=)
17g.31357343T>ACA499340891NF1c.7926T>A (p.Val2642=)
c.2508T>A (p.Val836=)
c.2100T>A (p.Val700=)
n.4589T>A
c.994T>A
c.7974T>A (p.Val2658=)
c.7944T>A (p.Val2648=)
c.7881T>A (p.Val2627=)
c.6879T>A (p.Val2293=)
c.1327T>A
n.1540T>A
c.8080T>A (n.8080T>A)
c.929T>A
c.7935T>A (p.Val2645=)
c.7911T>A (p.Val2637=)
c.7971T>A (p.Val2657=)
c.7851T>A (p.Val2617=)
 dbSNP
17g.31357343T>CCA499340893NF1c.7926T>C (p.Val2642=)
c.2508T>C (p.Val836=)
c.2100T>C (p.Val700=)
n.4589T>C
c.994T>C
c.7974T>C (p.Val2658=)
c.7944T>C (p.Val2648=)
c.7881T>C (p.Val2627=)
c.6879T>C (p.Val2293=)
c.1327T>C
n.1540T>C
c.8080T>C (n.8080T>C)
c.929T>C
c.7935T>C (p.Val2645=)
c.7911T>C (p.Val2637=)
c.7971T>C (p.Val2657=)
c.7851T>C (p.Val2617=)
17g.31357343T>GCA499340895NF1c.7926T>G (p.Val2642=)
c.2508T>G (p.Val836=)
c.2100T>G (p.Val700=)
n.4589T>G
c.994T>G
c.7974T>G (p.Val2658=)
c.7944T>G (p.Val2648=)
c.7881T>G (p.Val2627=)
c.6879T>G (p.Val2293=)
c.1327T>G
n.1540T>G
c.8080T>G (n.8080T>G)
c.929T>G
c.7935T>G (p.Val2645=)
c.7911T>G (p.Val2637=)
c.7971T>G (p.Val2657=)
c.7851T>G (p.Val2617=)
17g.31357346_31357347delCA916080682NF1c.7929_7930del (p.Phe2644SerfsTer9)
c.2511_2512del (p.Phe838SerfsTer9)
c.2103_2104del (p.Phe702SerfsTer9)
n.4592_4593del
c.997_998del
c.7977_7978del (p.Phe2660SerfsTer9)
c.7947_7948del (p.Phe2650SerfsTer9)
c.7884_7885del (p.Phe2629SerfsTer9)
c.6882_6883del (p.Phe2295SerfsTer9)
c.1330_1331del
n.1543_1544del
c.8083_8084del (n.8083_8084del)
c.932_933del
c.7938_7939del (p.Phe2647SerfsTer9)
c.7914_7915del (p.Phe2639SerfsTer9)
c.7974_7975del (p.Phe2659SerfsTer9)
c.7854_7855del (p.Phe2619SerfsTer9)
 ClinVar dbSNP
17g.31357344G>ACA399203515NF1c.7927G>A (p.Val2643Met)
c.2509G>A (p.Val837Met)
c.2101G>A (p.Val701Met)
n.4590G>A
c.995G>A
c.7975G>A (p.Val2659Met)
c.7945G>A (p.Val2649Met)
c.7882G>A (p.Val2628Met)
c.6880G>A (p.Val2294Met)
c.1328G>A
n.1541G>A
c.8081G>A (n.8081G>A)
c.930G>A
c.7936G>A (p.Val2646Met)
c.7912G>A (p.Val2638Met)
c.7972G>A (p.Val2658Met)
c.7852G>A (p.Val2618Met)
 ClinVar dbSNP gnomAD v4
17g.31357344G>CCA399203516NF1c.7927G>C (p.Val2643Leu)
c.2509G>C (p.Val837Leu)
c.2101G>C (p.Val701Leu)
n.4590G>C
c.995G>C
c.7975G>C (p.Val2659Leu)
c.7945G>C (p.Val2649Leu)
c.7882G>C (p.Val2628Leu)
c.6880G>C (p.Val2294Leu)
c.1328G>C
n.1541G>C
c.8081G>C (n.8081G>C)
c.930G>C
c.7936G>C (p.Val2646Leu)
c.7912G>C (p.Val2638Leu)
c.7972G>C (p.Val2658Leu)
c.7852G>C (p.Val2618Leu)
 ClinVar dbSNP
17g.31357344G=CA2255612123NF1c.7927G= (p.Val2643=)
c.2509G= (p.Val837=)
c.2101G= (p.Val701=)
n.4590G=
c.995G=
c.7975G= (p.Val2659=)
c.7945G= (p.Val2649=)
c.7882G= (p.Val2628=)
c.6880G= (p.Val2294=)
c.1328G=
n.1541G=
c.8081G= (n.8081G=)
c.930G=
c.7936G= (p.Val2646=)
c.7912G= (p.Val2638=)
c.7972G= (p.Val2658=)
c.7852G= (p.Val2618=)
17g.31357344G>TCA399203517NF1c.7927G>T (p.Val2643Leu)
c.2509G>T (p.Val837Leu)
c.2101G>T (p.Val701Leu)
n.4590G>T
c.995G>T
c.7975G>T (p.Val2659Leu)
c.7945G>T (p.Val2649Leu)
c.7882G>T (p.Val2628Leu)
c.6880G>T (p.Val2294Leu)
c.1328G>T
n.1541G>T
c.8081G>T (n.8081G>T)
c.930G>T
c.7936G>T (p.Val2646Leu)
c.7912G>T (p.Val2638Leu)
c.7972G>T (p.Val2658Leu)
c.7852G>T (p.Val2618Leu)
17g.31357345T>ACA399203518NF1c.7928T>A (p.Val2643Glu)
c.2510T>A (p.Val837Glu)
c.2102T>A (p.Val701Glu)
n.4591T>A
c.996T>A
c.7976T>A (p.Val2659Glu)
c.7946T>A (p.Val2649Glu)
c.7883T>A (p.Val2628Glu)
c.6881T>A (p.Val2294Glu)
c.1329T>A
n.1542T>A
c.8082T>A (n.8082T>A)
c.931T>A
c.7937T>A (p.Val2646Glu)
c.7913T>A (p.Val2638Glu)
c.7973T>A (p.Val2658Glu)
c.7853T>A (p.Val2618Glu)
 dbSNP
17g.31357345T>CCA399203519NF1c.7928T>C (p.Val2643Ala)
c.2510T>C (p.Val837Ala)
c.2102T>C (p.Val701Ala)
n.4591T>C
c.996T>C
c.7976T>C (p.Val2659Ala)
c.7946T>C (p.Val2649Ala)
c.7883T>C (p.Val2628Ala)
c.6881T>C (p.Val2294Ala)
c.1329T>C
n.1542T>C
c.8082T>C (n.8082T>C)
c.931T>C
c.7937T>C (p.Val2646Ala)
c.7913T>C (p.Val2638Ala)
c.7973T>C (p.Val2658Ala)
c.7853T>C (p.Val2618Ala)
 dbSNP
17g.31357345T>GCA399203520NF1c.7928T>G (p.Val2643Gly)
c.2510T>G (p.Val837Gly)
c.2102T>G (p.Val701Gly)
n.4591T>G
c.996T>G
c.7976T>G (p.Val2659Gly)
c.7946T>G (p.Val2649Gly)
c.7883T>G (p.Val2628Gly)
c.6881T>G (p.Val2294Gly)
c.1329T>G
n.1542T>G
c.8082T>G (n.8082T>G)
c.931T>G
c.7937T>G (p.Val2646Gly)
c.7913T>G (p.Val2638Gly)
c.7973T>G (p.Val2658Gly)
c.7853T>G (p.Val2618Gly)
 ClinVar
17g.31357346G>ACA499340906NF1c.7929G>A (p.Val2643=)
c.2511G>A (p.Val837=)
c.2103G>A (p.Val701=)
n.4592G>A
c.997G>A
c.7977G>A (p.Val2659=)
c.7947G>A (p.Val2649=)
c.7884G>A (p.Val2628=)
c.6882G>A (p.Val2294=)
c.1330G>A
n.1543G>A
c.8083G>A (n.8083G>A)
c.932G>A
c.7938G>A (p.Val2646=)
c.7914G>A (p.Val2638=)
c.7974G>A (p.Val2658=)
c.7854G>A (p.Val2618=)
 dbSNP
17g.31357346G>CCA499340909NF1c.7929G>C (p.Val2643=)
c.2511G>C (p.Val837=)
c.2103G>C (p.Val701=)
n.4592G>C
c.997G>C
c.7977G>C (p.Val2659=)
c.7947G>C (p.Val2649=)
c.7884G>C (p.Val2628=)
c.6882G>C (p.Val2294=)
c.1330G>C
n.1543G>C
c.8083G>C (n.8083G>C)
c.932G>C
c.7938G>C (p.Val2646=)
c.7914G>C (p.Val2638=)
c.7974G>C (p.Val2658=)
c.7854G>C (p.Val2618=)
 ClinVar dbSNP
17g.31357346G>TCA499340911NF1c.7929G>T (p.Val2643=)
c.2511G>T (p.Val837=)
c.2103G>T (p.Val701=)
n.4592G>T
c.997G>T
c.7977G>T (p.Val2659=)
c.7947G>T (p.Val2649=)
c.7884G>T (p.Val2628=)
c.6882G>T (p.Val2294=)
c.1330G>T
n.1543G>T
c.8083G>T (n.8083G>T)
c.932G>T
c.7938G>T (p.Val2646=)
c.7914G>T (p.Val2638=)
c.7974G>T (p.Val2658=)
c.7854G>T (p.Val2618=)
17g.31357346_31357348delinsGTTCA2255612126NF1c.7929_7931delinsGTT (p.Val2643=)
c.2511_2513delinsGTT (p.Val837=)
c.2103_2105delinsGTT (p.Val701=)
n.4592_4594delinsGTT
c.997_999delinsGTT
c.7977_7979delinsGTT (p.Val2659=)
c.7947_7949delinsGTT (p.Val2649=)
c.7884_7886delinsGTT (p.Val2628=)
c.6882_6884delinsGTT (p.Val2294=)
c.1330_1332delinsGTT
n.1543_1545delinsGTT
c.8083_8085delinsGTT (n.8083_8085delinsGTT)
c.932_934delinsGTT
c.7938_7940delinsGTT (p.Val2646=)
c.7914_7916delinsGTT (p.Val2638=)
c.7974_7976delinsGTT (p.Val2658=)
c.7854_7856delinsGTT (p.Val2618=)
17g.31357347T>ACA399203521NF1c.7930T>A (p.Phe2644Ile)
c.2512T>A (p.Phe838Ile)
c.2104T>A (p.Phe702Ile)
n.4593T>A
c.998T>A
c.7978T>A (p.Phe2660Ile)
c.7948T>A (p.Phe2650Ile)
c.7885T>A (p.Phe2629Ile)
c.6883T>A (p.Phe2295Ile)
c.1331T>A
n.1544T>A
c.8084T>A (n.8084T>A)
c.933T>A
c.7939T>A (p.Phe2647Ile)
c.7915T>A (p.Phe2639Ile)
c.7975T>A (p.Phe2659Ile)
c.7855T>A (p.Phe2619Ile)
17g.31357347T>CCA399203523NF1c.7930T>C (p.Phe2644Leu)
c.2512T>C (p.Phe838Leu)
c.2104T>C (p.Phe702Leu)
n.4593T>C
c.998T>C
c.7978T>C (p.Phe2660Leu)
c.7948T>C (p.Phe2650Leu)
c.7885T>C (p.Phe2629Leu)
c.6883T>C (p.Phe2295Leu)
c.1331T>C
n.1544T>C
c.8084T>C (n.8084T>C)
c.933T>C
c.7939T>C (p.Phe2647Leu)
c.7915T>C (p.Phe2639Leu)
c.7975T>C (p.Phe2659Leu)
c.7855T>C (p.Phe2619Leu)
 ClinVar
17g.31357347T>GCA399203522NF1c.7930T>G (p.Phe2644Val)
c.2512T>G (p.Phe838Val)
c.2104T>G (p.Phe702Val)
n.4593T>G
c.998T>G
c.7978T>G (p.Phe2660Val)
c.7948T>G (p.Phe2650Val)
c.7885T>G (p.Phe2629Val)
c.6883T>G (p.Phe2295Val)
c.1331T>G
n.1544T>G
c.8084T>G (n.8084T>G)
c.933T>G
c.7939T>G (p.Phe2647Val)
c.7915T>G (p.Phe2639Val)
c.7975T>G (p.Phe2659Val)
c.7855T>G (p.Phe2619Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31357347T=CA2255612134NF1c.7930T= (p.Phe2644=)
c.2512T= (p.Phe838=)
c.2104T= (p.Phe702=)
n.4593T=
c.998T=
c.7978T= (p.Phe2660=)
c.7948T= (p.Phe2650=)
c.7885T= (p.Phe2629=)
c.6883T= (p.Phe2295=)
c.1331T=
n.1544T=
c.8084T= (n.8084T=)
c.933T=
c.7939T= (p.Phe2647=)
c.7915T= (p.Phe2639=)
c.7975T= (p.Phe2659=)
c.7855T= (p.Phe2619=)
17g.31357349delCA2499224248NF1c.7932del (p.Val2647SerfsTer26)
c.2514del (p.Val841SerfsTer26)
c.2106del (p.Val705SerfsTer26)
n.4595del
c.1000del
c.7980del (p.Val2663SerfsTer26)
c.7950del (p.Val2653SerfsTer26)
c.7887del (p.Val2632SerfsTer26)
c.6885del (p.Val2298SerfsTer26)
c.1333del
n.1546del
c.8086del (n.8086del)
c.935del
c.7941del (p.Val2650SerfsTer26)
c.7917del (p.Val2642SerfsTer26)
c.7977del (p.Val2662SerfsTer26)
c.7857del (p.Val2622SerfsTer26)
 ClinVar dbSNP
17g.31357348_31357349delCA1139665482NF1c.7931_7932del (p.Phe2644SerfsTer9)
c.2513_2514del (p.Phe838SerfsTer9)
c.2105_2106del (p.Phe702SerfsTer9)
n.4594_4595del
c.999_1000del
c.7979_7980del (p.Phe2660SerfsTer9)
c.7949_7950del (p.Phe2650SerfsTer9)
c.7886_7887del (p.Phe2629SerfsTer9)
c.6884_6885del (p.Phe2295SerfsTer9)
c.1332_1333del
n.1545_1546del
c.8085_8086del (n.8085_8086del)
c.934_935del
c.7940_7941del (p.Phe2647SerfsTer9)
c.7916_7917del (p.Phe2639SerfsTer9)
c.7976_7977del (p.Phe2659SerfsTer9)
c.7856_7857del (p.Phe2619SerfsTer9)
 ClinVar dbSNP
17g.31357347_31357357delCA2499224247NF1c.7930_7940del (p.Phe2644LeufsTer6)
c.2512_2522del (p.Phe838LeufsTer6)
c.2104_2114del (p.Phe702LeufsTer6)
n.4593_4603del
c.998_1008del
c.7978_7988del (p.Phe2660LeufsTer6)
c.7948_7958del (p.Phe2650LeufsTer6)
c.7885_7895del (p.Phe2629LeufsTer6)
c.6883_6893del (p.Phe2295LeufsTer6)
c.1331_1341del
n.1544_1554del
c.8084_8094del (n.8084_8094del)
c.933_943del
c.7939_7949del (p.Phe2647LeufsTer6)
c.7915_7925del (p.Phe2639LeufsTer6)
c.7975_7985del (p.Phe2659LeufsTer6)
c.7855_7865del (p.Phe2619LeufsTer6)
 ClinVar dbSNP
17g.31357348T>ACA399203524NF1c.7931T>A (p.Phe2644Tyr)
c.2513T>A (p.Phe838Tyr)
c.2105T>A (p.Phe702Tyr)
n.4594T>A
c.999T>A
c.7979T>A (p.Phe2660Tyr)
c.7949T>A (p.Phe2650Tyr)
c.7886T>A (p.Phe2629Tyr)
c.6884T>A (p.Phe2295Tyr)
c.1332T>A
n.1545T>A
c.8085T>A (n.8085T>A)
c.934T>A
c.7940T>A (p.Phe2647Tyr)
c.7916T>A (p.Phe2639Tyr)
c.7976T>A (p.Phe2659Tyr)
c.7856T>A (p.Phe2619Tyr)
 dbSNP
17g.31357348T>CCA399203525NF1c.7931T>C (p.Phe2644Ser)
c.2513T>C (p.Phe838Ser)
c.2105T>C (p.Phe702Ser)
n.4594T>C
c.999T>C
c.7979T>C (p.Phe2660Ser)
c.7949T>C (p.Phe2650Ser)
c.7886T>C (p.Phe2629Ser)
c.6884T>C (p.Phe2295Ser)
c.1332T>C
n.1545T>C
c.8085T>C (n.8085T>C)
c.934T>C
c.7940T>C (p.Phe2647Ser)
c.7916T>C (p.Phe2639Ser)
c.7976T>C (p.Phe2659Ser)
c.7856T>C (p.Phe2619Ser)
 dbSNP gnomAD v4
17g.31357348T>GCA8487693NF1c.7931T>G (p.Phe2644Cys)
c.2513T>G (p.Phe838Cys)
c.2105T>G (p.Phe702Cys)
n.4594T>G
c.999T>G
c.7979T>G (p.Phe2660Cys)
c.7949T>G (p.Phe2650Cys)
c.7886T>G (p.Phe2629Cys)
c.6884T>G (p.Phe2295Cys)
c.1332T>G
n.1545T>G
c.8085T>G (n.8085T>G)
c.934T>G
c.7940T>G (p.Phe2647Cys)
c.7916T>G (p.Phe2639Cys)
c.7976T>G (p.Phe2659Cys)
c.7856T>G (p.Phe2619Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31357348T=CA2255612143NF1c.7931T= (p.Phe2644=)
c.2513T= (p.Phe838=)
c.2105T= (p.Phe702=)
n.4594T=
c.999T=
c.7979T= (p.Phe2660=)
c.7949T= (p.Phe2650=)
c.7886T= (p.Phe2629=)
c.6884T= (p.Phe2295=)
c.1332T=
n.1545T=
c.8085T= (n.8085T=)
c.934T=
c.7940T= (p.Phe2647=)
c.7916T= (p.Phe2639=)
c.7976T= (p.Phe2659=)
c.7856T= (p.Phe2619=)
17g.31357349T>ACA399203526NF1c.7932T>A (p.Phe2644Leu)
c.2514T>A (p.Phe838Leu)
c.2106T>A (p.Phe702Leu)
n.4595T>A
c.1000T>A
c.7980T>A (p.Phe2660Leu)
c.7950T>A (p.Phe2650Leu)
c.7887T>A (p.Phe2629Leu)
c.6885T>A (p.Phe2295Leu)
c.1333T>A
n.1546T>A
c.8086T>A (n.8086T>A)
c.935T>A
c.7941T>A (p.Phe2647Leu)
c.7917T>A (p.Phe2639Leu)
c.7977T>A (p.Phe2659Leu)
c.7857T>A (p.Phe2619Leu)
17g.31357349T>CCA499340926NF1c.7932T>C (p.Phe2644=)
c.2514T>C (p.Phe838=)
c.2106T>C (p.Phe702=)
n.4595T>C
c.1000T>C
c.7980T>C (p.Phe2660=)
c.7950T>C (p.Phe2650=)
c.7887T>C (p.Phe2629=)
c.6885T>C (p.Phe2295=)
c.1333T>C
n.1546T>C
c.8086T>C (n.8086T>C)
c.935T>C
c.7941T>C (p.Phe2647=)
c.7917T>C (p.Phe2639=)
c.7977T>C (p.Phe2659=)
c.7857T>C (p.Phe2619=)
 ClinVar dbSNP
17g.31357349T>GCA399203527NF1c.7932T>G (p.Phe2644Leu)
c.2514T>G (p.Phe838Leu)
c.2106T>G (p.Phe702Leu)
n.4595T>G
c.1000T>G
c.7980T>G (p.Phe2660Leu)
c.7950T>G (p.Phe2650Leu)
c.7887T>G (p.Phe2629Leu)
c.6885T>G (p.Phe2295Leu)
c.1333T>G
n.1546T>G
c.8086T>G (n.8086T>G)
c.935T>G
c.7941T>G (p.Phe2647Leu)
c.7917T>G (p.Phe2639Leu)
c.7977T>G (p.Phe2659Leu)
c.7857T>G (p.Phe2619Leu)
17g.31357349T=CA2255612148NF1c.7932T= (p.Phe2644=)
c.2514T= (p.Phe838=)
c.2106T= (p.Phe702=)
n.4595T=
c.1000T=
c.7980T= (p.Phe2660=)
c.7950T= (p.Phe2650=)
c.7887T= (p.Phe2629=)
c.6885T= (p.Phe2295=)
c.1333T=
n.1546T=
c.8086T= (n.8086T=)
c.935T=
c.7941T= (p.Phe2647=)
c.7917T= (p.Phe2639=)
c.7977T= (p.Phe2659=)
c.7857T= (p.Phe2619=)
17g.31357351_31357358delCA645572287NF1c.7934_7941del (p.Pro2645LeufsTer6)
c.2516_2523del (p.Pro839LeufsTer6)
c.2108_2115del (p.Pro703LeufsTer6)
n.4597_4604del
c.1002_1009del
c.7982_7989del (p.Pro2661LeufsTer6)
c.7952_7959del (p.Pro2651LeufsTer6)
c.7889_7896del (p.Pro2630LeufsTer6)
c.6887_6894del (p.Pro2296LeufsTer6)
c.1335_1342del
n.1548_1555del
c.8088_8095del (n.8088_8095del)
c.937_944del
c.7943_7950del (p.Pro2648LeufsTer6)
c.7919_7926del (p.Pro2640LeufsTer6)
c.7979_7986del (p.Pro2660LeufsTer6)
c.7859_7866del (p.Pro2620LeufsTer6)
 COSMIC
17g.31357350C>ACA399203528NF1c.7933C>A (p.Pro2645Thr)
c.2515C>A (p.Pro839Thr)
c.2107C>A (p.Pro703Thr)
n.4596C>A
c.1001C>A
c.7981C>A (p.Pro2661Thr)
c.7951C>A (p.Pro2651Thr)
c.7888C>A (p.Pro2630Thr)
c.6886C>A (p.Pro2296Thr)
c.1334C>A
n.1547C>A
c.8087C>A (n.8087C>A)
c.936C>A
c.7942C>A (p.Pro2648Thr)
c.7918C>A (p.Pro2640Thr)
c.7978C>A (p.Pro2660Thr)
c.7858C>A (p.Pro2620Thr)
17g.31357350C=CA2255612152NF1c.7933C= (p.Pro2645=)
c.2515C= (p.Pro839=)
c.2107C= (p.Pro703=)
n.4596C=
c.1001C=
c.7981C= (p.Pro2661=)
c.7951C= (p.Pro2651=)
c.7888C= (p.Pro2630=)
c.6886C= (p.Pro2296=)
c.1334C=
n.1547C=
c.8087C= (n.8087C=)
c.936C=
c.7942C= (p.Pro2648=)
c.7918C= (p.Pro2640=)
c.7978C= (p.Pro2660=)
c.7858C= (p.Pro2620=)
17g.31357350C>GCA399203529NF1c.7933C>G (p.Pro2645Ala)
c.2515C>G (p.Pro839Ala)
c.2107C>G (p.Pro703Ala)
n.4596C>G
c.1001C>G
c.7981C>G (p.Pro2661Ala)
c.7951C>G (p.Pro2651Ala)
c.7888C>G (p.Pro2630Ala)
c.6886C>G (p.Pro2296Ala)
c.1334C>G
n.1547C>G
c.8087C>G (n.8087C>G)
c.936C>G
c.7942C>G (p.Pro2648Ala)
c.7918C>G (p.Pro2640Ala)
c.7978C>G (p.Pro2660Ala)
c.7858C>G (p.Pro2620Ala)
 dbSNP
17g.31357350C>TCA8487694NF1c.7933C>T (p.Pro2645Ser)
c.2515C>T (p.Pro839Ser)
c.2107C>T (p.Pro703Ser)
n.4596C>T
c.1001C>T
c.7981C>T (p.Pro2661Ser)
c.7951C>T (p.Pro2651Ser)
c.7888C>T (p.Pro2630Ser)
c.6886C>T (p.Pro2296Ser)
c.1334C>T
n.1547C>T
c.8087C>T (n.8087C>T)
c.936C>T
c.7942C>T (p.Pro2648Ser)
c.7918C>T (p.Pro2640Ser)
c.7978C>T (p.Pro2660Ser)
c.7858C>T (p.Pro2620Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31357352delCA2733613313NF1c.7935del (p.Val2647SerfsTer26)
c.2517del (p.Val841SerfsTer26)
c.2109del (p.Val705SerfsTer26)
n.4598del
c.1003del
c.7983del (p.Val2663SerfsTer26)
c.7953del (p.Val2653SerfsTer26)
c.7890del (p.Val2632SerfsTer26)
c.6888del (p.Val2298SerfsTer26)
c.1336del
n.1549del
c.8089del (n.8089del)
c.938del
c.7944del (p.Val2650SerfsTer26)
c.7920del (p.Val2642SerfsTer26)
c.7980del (p.Val2662SerfsTer26)
c.7860del (p.Val2622SerfsTer26)
 dbSNP

Number of alleles fetched