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.31351657_31353149delCA277599NF1c.7440-600_7597+735del
c.2022-600_2179+735del
c.1614-600_1771+735del
n.4103-600_4260+735del
c.508-600_665+735del
c.7488-600_7645+735del
c.7458-600_7615+735del
c.7395-600_7552+735del
c.6393-600_6550+735del
c.841-600_998+735del
c.7594-600_7751+735del
c.600+1339_600+2831del
c.7449-600_7606+735del
c.7425-600_7582+735del
c.7485-600_7642+735del
 ClinVar
17g.31352312_31352321delCA645572271NF1c.7495_7504del (p.Ala2499IlefsTer15)
c.2077_2086del (p.Ala693IlefsTer15)
c.1669_1678del (p.Ala557IlefsTer15)
n.4158_4167del
c.563_572del
c.7543_7552del (p.Ala2515IlefsTer15)
c.7513_7522del (p.Ala2505IlefsTer15)
c.7450_7459del (p.Ala2484IlefsTer15)
c.6448_6457del (p.Ala2150IlefsTer15)
c.896_905del
c.7649_7658del (n.7649_7658del)
c.600+1994_600+2003del
c.7504_7513del (p.Ala2502IlefsTer15)
c.7480_7489del (p.Ala2494IlefsTer15)
c.7540_7549del (p.Ala2514IlefsTer15)
 COSMIC
17g.31352312G>ACA399017545NF1c.7495G>A (p.Ala2499Thr)
c.2077G>A (p.Ala693Thr)
c.1669G>A (p.Ala557Thr)
n.4158G>A
c.563G>A
c.7543G>A (p.Ala2515Thr)
c.7513G>A (p.Ala2505Thr)
c.7450G>A (p.Ala2484Thr)
c.6448G>A (p.Ala2150Thr)
c.896G>A
c.7649G>A (n.7649G>A)
c.600+1994G>A
c.7504G>A (p.Ala2502Thr)
c.7480G>A (p.Ala2494Thr)
c.7540G>A (p.Ala2514Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31352312G>CCA194823NF1c.7495G>C (p.Ala2499Pro)
c.2077G>C (p.Ala693Pro)
c.1669G>C (p.Ala557Pro)
n.4158G>C
c.563G>C
c.7543G>C (p.Ala2515Pro)
c.7513G>C (p.Ala2505Pro)
c.7450G>C (p.Ala2484Pro)
c.6448G>C (p.Ala2150Pro)
c.896G>C
c.7649G>C (n.7649G>C)
c.600+1994G>C
c.7504G>C (p.Ala2502Pro)
c.7480G>C (p.Ala2494Pro)
c.7540G>C (p.Ala2514Pro)
 ClinVar dbSNP gnomAD v4
17g.31352312G=CA2255609975NF1c.7495G= (p.Ala2499=)
c.2077G= (p.Ala693=)
c.1669G= (p.Ala557=)
n.4158G=
c.563G=
c.7543G= (p.Ala2515=)
c.7513G= (p.Ala2505=)
c.7450G= (p.Ala2484=)
c.6448G= (p.Ala2150=)
c.896G=
c.7649G= (n.7649G=)
c.600+1994G=
c.7504G= (p.Ala2502=)
c.7480G= (p.Ala2494=)
c.7540G= (p.Ala2514=)
17g.31352312G>TCA399017546NF1c.7495G>T (p.Ala2499Ser)
c.2077G>T (p.Ala693Ser)
c.1669G>T (p.Ala557Ser)
n.4158G>T
c.563G>T
c.7543G>T (p.Ala2515Ser)
c.7513G>T (p.Ala2505Ser)
c.7450G>T (p.Ala2484Ser)
c.6448G>T (p.Ala2150Ser)
c.896G>T
c.7649G>T (n.7649G>T)
c.600+1994G>T
c.7504G>T (p.Ala2502Ser)
c.7480G>T (p.Ala2494Ser)
c.7540G>T (p.Ala2514Ser)
17g.31352313C>ACA399017548NF1c.7496C>A (p.Ala2499Glu)
c.2078C>A (p.Ala693Glu)
c.1670C>A (p.Ala557Glu)
n.4159C>A
c.564C>A
c.7544C>A (p.Ala2515Glu)
c.7514C>A (p.Ala2505Glu)
c.7451C>A (p.Ala2484Glu)
c.6449C>A (p.Ala2150Glu)
c.897C>A
c.7650C>A (n.7650C>A)
c.600+1995C>A
c.7505C>A (p.Ala2502Glu)
c.7481C>A (p.Ala2494Glu)
c.7541C>A (p.Ala2514Glu)
 dbSNP
17g.31352313C=CA2255609979NF1c.7496C= (p.Ala2499=)
c.2078C= (p.Ala693=)
c.1670C= (p.Ala557=)
n.4159C=
c.564C=
c.7544C= (p.Ala2515=)
c.7514C= (p.Ala2505=)
c.7451C= (p.Ala2484=)
c.6449C= (p.Ala2150=)
c.897C=
c.7650C= (n.7650C=)
c.600+1995C=
c.7505C= (p.Ala2502=)
c.7481C= (p.Ala2494=)
c.7541C= (p.Ala2514=)
17g.31352313C>GCA399017550NF1c.7496C>G (p.Ala2499Gly)
c.2078C>G (p.Ala693Gly)
c.1670C>G (p.Ala557Gly)
n.4159C>G
c.564C>G
c.7544C>G (p.Ala2515Gly)
c.7514C>G (p.Ala2505Gly)
c.7451C>G (p.Ala2484Gly)
c.6449C>G (p.Ala2150Gly)
c.897C>G
c.7650C>G (n.7650C>G)
c.600+1995C>G
c.7505C>G (p.Ala2502Gly)
c.7481C>G (p.Ala2494Gly)
c.7541C>G (p.Ala2514Gly)
 ClinVar dbSNP
17g.31352313C>TCA399017551NF1c.7496C>T (p.Ala2499Val)
c.2078C>T (p.Ala693Val)
c.1670C>T (p.Ala557Val)
n.4159C>T
c.564C>T
c.7544C>T (p.Ala2515Val)
c.7514C>T (p.Ala2505Val)
c.7451C>T (p.Ala2484Val)
c.6449C>T (p.Ala2150Val)
c.897C>T
c.7650C>T (n.7650C>T)
c.600+1995C>T
c.7505C>T (p.Ala2502Val)
c.7481C>T (p.Ala2494Val)
c.7541C>T (p.Ala2514Val)
 ClinVar dbSNP
17g.31352314A=CA2255609983NF1c.7497A= (p.Ala2499=)
c.2079A= (p.Ala693=)
c.1671A= (p.Ala557=)
n.4160A=
c.565A=
c.7545A= (p.Ala2515=)
c.7515A= (p.Ala2505=)
c.7452A= (p.Ala2484=)
c.6450A= (p.Ala2150=)
c.898A=
c.7651A= (n.7651A=)
c.600+1996A=
c.7506A= (p.Ala2502=)
c.7482A= (p.Ala2494=)
c.7542A= (p.Ala2514=)
17g.31352314A>CCA8487603NF1c.7497A>C (p.Ala2499=)
c.2079A>C (p.Ala693=)
c.1671A>C (p.Ala557=)
n.4160A>C
c.565A>C
c.7545A>C (p.Ala2515=)
c.7515A>C (p.Ala2505=)
c.7452A>C (p.Ala2484=)
c.6450A>C (p.Ala2150=)
c.898A>C
c.7651A>C (n.7651A>C)
c.600+1996A>C
c.7506A>C (p.Ala2502=)
c.7482A>C (p.Ala2494=)
c.7542A>C (p.Ala2514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352314A>GCA499239263NF1c.7497A>G (p.Ala2499=)
c.2079A>G (p.Ala693=)
c.1671A>G (p.Ala557=)
n.4160A>G
c.565A>G
c.7545A>G (p.Ala2515=)
c.7515A>G (p.Ala2505=)
c.7452A>G (p.Ala2484=)
c.6450A>G (p.Ala2150=)
c.898A>G
c.7651A>G (n.7651A>G)
c.600+1996A>G
c.7506A>G (p.Ala2502=)
c.7482A>G (p.Ala2494=)
c.7542A>G (p.Ala2514=)
 dbSNP
17g.31352314A>TCA499239264NF1c.7497A>T (p.Ala2499=)
c.2079A>T (p.Ala693=)
c.1671A>T (p.Ala557=)
n.4160A>T
c.565A>T
c.7545A>T (p.Ala2515=)
c.7515A>T (p.Ala2505=)
c.7452A>T (p.Ala2484=)
c.6450A>T (p.Ala2150=)
c.898A>T
c.7651A>T (n.7651A>T)
c.600+1996A>T
c.7506A>T (p.Ala2502=)
c.7482A>T (p.Ala2494=)
c.7542A>T (p.Ala2514=)
 dbSNP
17g.31352315G>ACA399017554NF1c.7498G>A (p.Ala2500Thr)
c.2080G>A (p.Ala694Thr)
c.1672G>A (p.Ala558Thr)
n.4161G>A
c.566G>A
c.7546G>A (p.Ala2516Thr)
c.7516G>A (p.Ala2506Thr)
c.7453G>A (p.Ala2485Thr)
c.6451G>A (p.Ala2151Thr)
c.899G>A
c.7652G>A (n.7652G>A)
c.600+1997G>A
c.7507G>A (p.Ala2503Thr)
c.7483G>A (p.Ala2495Thr)
c.7543G>A (p.Ala2515Thr)
 dbSNP
17g.31352315G>CCA399017555NF1c.7498G>C (p.Ala2500Pro)
c.2080G>C (p.Ala694Pro)
c.1672G>C (p.Ala558Pro)
n.4161G>C
c.566G>C
c.7546G>C (p.Ala2516Pro)
c.7516G>C (p.Ala2506Pro)
c.7453G>C (p.Ala2485Pro)
c.6451G>C (p.Ala2151Pro)
c.899G>C
c.7652G>C (n.7652G>C)
c.600+1997G>C
c.7507G>C (p.Ala2503Pro)
c.7483G>C (p.Ala2495Pro)
c.7543G>C (p.Ala2515Pro)
17g.31352315G>TCA399017556NF1c.7498G>T (p.Ala2500Ser)
c.2080G>T (p.Ala694Ser)
c.1672G>T (p.Ala558Ser)
n.4161G>T
c.566G>T
c.7546G>T (p.Ala2516Ser)
c.7516G>T (p.Ala2506Ser)
c.7453G>T (p.Ala2485Ser)
c.6451G>T (p.Ala2151Ser)
c.899G>T
c.7652G>T (n.7652G>T)
c.600+1997G>T
c.7507G>T (p.Ala2503Ser)
c.7483G>T (p.Ala2495Ser)
c.7543G>T (p.Ala2515Ser)
 dbSNP
17g.31352316C>ACA399017558NF1c.7499C>A (p.Ala2500Asp)
c.2081C>A (p.Ala694Asp)
c.1673C>A (p.Ala558Asp)
n.4162C>A
c.567C>A
c.7547C>A (p.Ala2516Asp)
c.7517C>A (p.Ala2506Asp)
c.7454C>A (p.Ala2485Asp)
c.6452C>A (p.Ala2151Asp)
c.900C>A
c.7653C>A (n.7653C>A)
c.600+1998C>A
c.7508C>A (p.Ala2503Asp)
c.7484C>A (p.Ala2495Asp)
c.7544C>A (p.Ala2515Asp)
 ClinVar dbSNP
17g.31352316C>GCA399017559NF1c.7499C>G (p.Ala2500Gly)
c.2081C>G (p.Ala694Gly)
c.1673C>G (p.Ala558Gly)
n.4162C>G
c.567C>G
c.7547C>G (p.Ala2516Gly)
c.7517C>G (p.Ala2506Gly)
c.7454C>G (p.Ala2485Gly)
c.6452C>G (p.Ala2151Gly)
c.900C>G
c.7653C>G (n.7653C>G)
c.600+1998C>G
c.7508C>G (p.Ala2503Gly)
c.7484C>G (p.Ala2495Gly)
c.7544C>G (p.Ala2515Gly)
 dbSNP
17g.31352316C>TCA399017561NF1c.7499C>T (p.Ala2500Val)
c.2081C>T (p.Ala694Val)
c.1673C>T (p.Ala558Val)
n.4162C>T
c.567C>T
c.7547C>T (p.Ala2516Val)
c.7517C>T (p.Ala2506Val)
c.7454C>T (p.Ala2485Val)
c.6452C>T (p.Ala2151Val)
c.900C>T
c.7653C>T (n.7653C>T)
c.600+1998C>T
c.7508C>T (p.Ala2503Val)
c.7484C>T (p.Ala2495Val)
c.7544C>T (p.Ala2515Val)
 dbSNP
17g.31352317C>ACA499239265NF1c.7500C>A (p.Ala2500=)
c.2082C>A (p.Ala694=)
c.1674C>A (p.Ala558=)
n.4163C>A
c.568C>A
c.7548C>A (p.Ala2516=)
c.7518C>A (p.Ala2506=)
c.7455C>A (p.Ala2485=)
c.6453C>A (p.Ala2151=)
c.901C>A
c.7654C>A (n.7654C>A)
c.600+1999C>A
c.7509C>A (p.Ala2503=)
c.7485C>A (p.Ala2495=)
c.7545C>A (p.Ala2515=)
 gnomAD v4
17g.31352317C=CA2255609988NF1c.7500C= (p.Ala2500=)
c.2082C= (p.Ala694=)
c.1674C= (p.Ala558=)
n.4163C=
c.568C=
c.7548C= (p.Ala2516=)
c.7518C= (p.Ala2506=)
c.7455C= (p.Ala2485=)
c.6453C= (p.Ala2151=)
c.901C=
c.7654C= (n.7654C=)
c.600+1999C=
c.7509C= (p.Ala2503=)
c.7485C= (p.Ala2495=)
c.7545C= (p.Ala2515=)
17g.31352317C>GCA499239266NF1c.7500C>G (p.Ala2500=)
c.2082C>G (p.Ala694=)
c.1674C>G (p.Ala558=)
n.4163C>G
c.568C>G
c.7548C>G (p.Ala2516=)
c.7518C>G (p.Ala2506=)
c.7455C>G (p.Ala2485=)
c.6453C>G (p.Ala2151=)
c.901C>G
c.7654C>G (n.7654C>G)
c.600+1999C>G
c.7509C>G (p.Ala2503=)
c.7485C>G (p.Ala2495=)
c.7545C>G (p.Ala2515=)
 dbSNP
17g.31352317C>TCA499239267NF1c.7500C>T (p.Ala2500=)
c.2082C>T (p.Ala694=)
c.1674C>T (p.Ala558=)
n.4163C>T
c.568C>T
c.7548C>T (p.Ala2516=)
c.7518C>T (p.Ala2506=)
c.7455C>T (p.Ala2485=)
c.6453C>T (p.Ala2151=)
c.901C>T
c.7654C>T (n.7654C>T)
c.600+1999C>T
c.7509C>T (p.Ala2503=)
c.7485C>T (p.Ala2495=)
c.7545C>T (p.Ala2515=)
 ClinVar dbSNP
17g.31352318A=CA2255609991NF1c.7501A= (p.Thr2501=)
c.2083A= (p.Thr695=)
c.1675A= (p.Thr559=)
n.4164A=
c.569A=
c.7549A= (p.Thr2517=)
c.7519A= (p.Thr2507=)
c.7456A= (p.Thr2486=)
c.6454A= (p.Thr2152=)
c.902A=
c.7655A= (n.7655A=)
c.600+2000A=
c.7510A= (p.Thr2504=)
c.7486A= (p.Thr2496=)
c.7546A= (p.Thr2516=)
17g.31352318A>CCA399017564NF1c.7501A>C (p.Thr2501Pro)
c.2083A>C (p.Thr695Pro)
c.1675A>C (p.Thr559Pro)
n.4164A>C
c.569A>C
c.7549A>C (p.Thr2517Pro)
c.7519A>C (p.Thr2507Pro)
c.7456A>C (p.Thr2486Pro)
c.6454A>C (p.Thr2152Pro)
c.902A>C
c.7655A>C (n.7655A>C)
c.600+2000A>C
c.7510A>C (p.Thr2504Pro)
c.7486A>C (p.Thr2496Pro)
c.7546A>C (p.Thr2516Pro)
 dbSNP
17g.31352318A>GCA399017566NF1c.7501A>G (p.Thr2501Ala)
c.2083A>G (p.Thr695Ala)
c.1675A>G (p.Thr559Ala)
n.4164A>G
c.569A>G
c.7549A>G (p.Thr2517Ala)
c.7519A>G (p.Thr2507Ala)
c.7456A>G (p.Thr2486Ala)
c.6454A>G (p.Thr2152Ala)
c.902A>G
c.7655A>G (n.7655A>G)
c.600+2000A>G
c.7510A>G (p.Thr2504Ala)
c.7486A>G (p.Thr2496Ala)
c.7546A>G (p.Thr2516Ala)
 ClinVar dbSNP
17g.31352318A>TCA399017563NF1c.7501A>T (p.Thr2501Ser)
c.2083A>T (p.Thr695Ser)
c.1675A>T (p.Thr559Ser)
n.4164A>T
c.569A>T
c.7549A>T (p.Thr2517Ser)
c.7519A>T (p.Thr2507Ser)
c.7456A>T (p.Thr2486Ser)
c.6454A>T (p.Thr2152Ser)
c.902A>T
c.7655A>T (n.7655A>T)
c.600+2000A>T
c.7510A>T (p.Thr2504Ser)
c.7486A>T (p.Thr2496Ser)
c.7546A>T (p.Thr2516Ser)
 dbSNP
17g.31352319C>ACA399017567NF1c.7502C>A (p.Thr2501Asn)
c.2084C>A (p.Thr695Asn)
c.1676C>A (p.Thr559Asn)
n.4165C>A
c.570C>A
c.7550C>A (p.Thr2517Asn)
c.7520C>A (p.Thr2507Asn)
c.7457C>A (p.Thr2486Asn)
c.6455C>A (p.Thr2152Asn)
c.903C>A
c.7656C>A (n.7656C>A)
c.600+2001C>A
c.7511C>A (p.Thr2504Asn)
c.7487C>A (p.Thr2496Asn)
c.7547C>A (p.Thr2516Asn)
 dbSNP
17g.31352319C=CA2255609997NF1c.7502C= (p.Thr2501=)
c.2084C= (p.Thr695=)
c.1676C= (p.Thr559=)
n.4165C=
c.570C=
c.7550C= (p.Thr2517=)
c.7520C= (p.Thr2507=)
c.7457C= (p.Thr2486=)
c.6455C= (p.Thr2152=)
c.903C=
c.7656C= (n.7656C=)
c.600+2001C=
c.7511C= (p.Thr2504=)
c.7487C= (p.Thr2496=)
c.7547C= (p.Thr2516=)
17g.31352319C>GCA399017568NF1c.7502C>G (p.Thr2501Ser)
c.2084C>G (p.Thr695Ser)
c.1676C>G (p.Thr559Ser)
n.4165C>G
c.570C>G
c.7550C>G (p.Thr2517Ser)
c.7520C>G (p.Thr2507Ser)
c.7457C>G (p.Thr2486Ser)
c.6455C>G (p.Thr2152Ser)
c.903C>G
c.7656C>G (n.7656C>G)
c.600+2001C>G
c.7511C>G (p.Thr2504Ser)
c.7487C>G (p.Thr2496Ser)
c.7547C>G (p.Thr2516Ser)
 dbSNP
17g.31352319C>TCA166586NF1c.7502C>T (p.Thr2501Ile)
c.2084C>T (p.Thr695Ile)
c.1676C>T (p.Thr559Ile)
n.4165C>T
c.570C>T
c.7550C>T (p.Thr2517Ile)
c.7520C>T (p.Thr2507Ile)
c.7457C>T (p.Thr2486Ile)
c.6455C>T (p.Thr2152Ile)
c.903C>T
c.7656C>T (n.7656C>T)
c.600+2001C>T
c.7511C>T (p.Thr2504Ile)
c.7487C>T (p.Thr2496Ile)
c.7547C>T (p.Thr2516Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352320delCA2695225508NF1c.7503del (p.Tyr2502IlefsTer15)
c.2085del (p.Tyr696IlefsTer15)
c.1677del (p.Tyr560IlefsTer15)
n.4166del
c.571del
c.7551del (p.Tyr2518IlefsTer15)
c.7521del (p.Tyr2508IlefsTer15)
c.7458del (p.Tyr2487IlefsTer15)
c.6456del (p.Tyr2153IlefsTer15)
c.904del
c.7657del (n.7657del)
c.600+2002del
c.7512del (p.Tyr2505IlefsTer15)
c.7488del (p.Tyr2497IlefsTer15)
c.7548del (p.Tyr2517IlefsTer15)
17g.31352320C>ACA499239270NF1c.7503C>A (p.Thr2501=)
c.2085C>A (p.Thr695=)
c.1677C>A (p.Thr559=)
n.4166C>A
c.571C>A
c.7551C>A (p.Thr2517=)
c.7521C>A (p.Thr2507=)
c.7458C>A (p.Thr2486=)
c.6456C>A (p.Thr2152=)
c.904C>A
c.7657C>A (n.7657C>A)
c.600+2002C>A
c.7512C>A (p.Thr2504=)
c.7488C>A (p.Thr2496=)
c.7548C>A (p.Thr2516=)
 dbSNP
17g.31352320C>GCA499239269NF1c.7503C>G (p.Thr2501=)
c.2085C>G (p.Thr695=)
c.1677C>G (p.Thr559=)
n.4166C>G
c.571C>G
c.7551C>G (p.Thr2517=)
c.7521C>G (p.Thr2507=)
c.7458C>G (p.Thr2486=)
c.6456C>G (p.Thr2152=)
c.904C>G
c.7657C>G (n.7657C>G)
c.600+2002C>G
c.7512C>G (p.Thr2504=)
c.7488C>G (p.Thr2496=)
c.7548C>G (p.Thr2516=)
 dbSNP
17g.31352320C>TCA499239268NF1c.7503C>T (p.Thr2501=)
c.2085C>T (p.Thr695=)
c.1677C>T (p.Thr559=)
n.4166C>T
c.571C>T
c.7551C>T (p.Thr2517=)
c.7521C>T (p.Thr2507=)
c.7458C>T (p.Thr2486=)
c.6456C>T (p.Thr2152=)
c.904C>T
c.7657C>T (n.7657C>T)
c.600+2002C>T
c.7512C>T (p.Thr2504=)
c.7488C>T (p.Thr2496=)
c.7548C>T (p.Thr2516=)
 ClinVar dbSNP
17g.31352321T>ACA399017572NF1c.7504T>A (p.Tyr2502Asn)
c.2086T>A (p.Tyr696Asn)
c.1678T>A (p.Tyr560Asn)
n.4167T>A
c.572T>A
c.7552T>A (p.Tyr2518Asn)
c.7522T>A (p.Tyr2508Asn)
c.7459T>A (p.Tyr2487Asn)
c.6457T>A (p.Tyr2153Asn)
c.905T>A
c.7658T>A (n.7658T>A)
c.600+2003T>A
c.7513T>A (p.Tyr2505Asn)
c.7489T>A (p.Tyr2497Asn)
c.7549T>A (p.Tyr2517Asn)
 dbSNP
17g.31352321T>CCA399017573NF1c.7504T>C (p.Tyr2502His)
c.2086T>C (p.Tyr696His)
c.1678T>C (p.Tyr560His)
n.4167T>C
c.572T>C
c.7552T>C (p.Tyr2518His)
c.7522T>C (p.Tyr2508His)
c.7459T>C (p.Tyr2487His)
c.6457T>C (p.Tyr2153His)
c.905T>C
c.7658T>C (n.7658T>C)
c.600+2003T>C
c.7513T>C (p.Tyr2505His)
c.7489T>C (p.Tyr2497His)
c.7549T>C (p.Tyr2517His)
17g.31352321T>GCA399017574NF1c.7504T>G (p.Tyr2502Asp)
c.2086T>G (p.Tyr696Asp)
c.1678T>G (p.Tyr560Asp)
n.4167T>G
c.572T>G
c.7552T>G (p.Tyr2518Asp)
c.7522T>G (p.Tyr2508Asp)
c.7459T>G (p.Tyr2487Asp)
c.6457T>G (p.Tyr2153Asp)
c.905T>G
c.7658T>G (n.7658T>G)
c.600+2003T>G
c.7513T>G (p.Tyr2505Asp)
c.7489T>G (p.Tyr2497Asp)
c.7549T>G (p.Tyr2517Asp)
17g.31352322A=CA2255610002NF1c.7505A= (p.Tyr2502=)
c.2087A= (p.Tyr696=)
c.1679A= (p.Tyr560=)
n.4168A=
c.573A=
c.7553A= (p.Tyr2518=)
c.7523A= (p.Tyr2508=)
c.7460A= (p.Tyr2487=)
c.6458A= (p.Tyr2153=)
c.906A=
c.7659A= (n.7659A=)
c.600+2004A=
c.7514A= (p.Tyr2505=)
c.7490A= (p.Tyr2497=)
c.7550A= (p.Tyr2517=)
17g.31352322A>CCA399017576NF1c.7505A>C (p.Tyr2502Ser)
c.2087A>C (p.Tyr696Ser)
c.1679A>C (p.Tyr560Ser)
n.4168A>C
c.573A>C
c.7553A>C (p.Tyr2518Ser)
c.7523A>C (p.Tyr2508Ser)
c.7460A>C (p.Tyr2487Ser)
c.6458A>C (p.Tyr2153Ser)
c.906A>C
c.7659A>C (n.7659A>C)
c.600+2004A>C
c.7514A>C (p.Tyr2505Ser)
c.7490A>C (p.Tyr2497Ser)
c.7550A>C (p.Tyr2517Ser)
 dbSNP
17g.31352322A>GCA8487604NF1c.7505A>G (p.Tyr2502Cys)
c.2087A>G (p.Tyr696Cys)
c.1679A>G (p.Tyr560Cys)
n.4168A>G
c.573A>G
c.7553A>G (p.Tyr2518Cys)
c.7523A>G (p.Tyr2508Cys)
c.7460A>G (p.Tyr2487Cys)
c.6458A>G (p.Tyr2153Cys)
c.906A>G
c.7659A>G (n.7659A>G)
c.600+2004A>G
c.7514A>G (p.Tyr2505Cys)
c.7490A>G (p.Tyr2497Cys)
c.7550A>G (p.Tyr2517Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352322A>TCA399017578NF1c.7505A>T (p.Tyr2502Phe)
c.2087A>T (p.Tyr696Phe)
c.1679A>T (p.Tyr560Phe)
n.4168A>T
c.573A>T
c.7553A>T (p.Tyr2518Phe)
c.7523A>T (p.Tyr2508Phe)
c.7460A>T (p.Tyr2487Phe)
c.6458A>T (p.Tyr2153Phe)
c.906A>T
c.7659A>T (n.7659A>T)
c.600+2004A>T
c.7514A>T (p.Tyr2505Phe)
c.7490A>T (p.Tyr2497Phe)
c.7550A>T (p.Tyr2517Phe)
 ClinVar dbSNP
17g.31352323_31352326dupCA2695225509NF1c.7506_7509dup (p.Thr2504SerfsTer27)
c.2088_2091dup (p.Thr698SerfsTer27)
c.1680_1683dup (p.Thr562SerfsTer27)
n.4169_4172dup
c.574_577dup
c.7554_7557dup (p.Thr2520SerfsTer27)
c.7524_7527dup (p.Thr2510SerfsTer27)
c.7461_7464dup (p.Thr2489SerfsTer27)
c.6459_6462dup (p.Thr2155SerfsTer27)
c.907_910dup
c.7660_7663dup (n.7660_7663dup)
c.600+2005_600+2008dup
c.7515_7518dup (p.Thr2507SerfsTer27)
c.7491_7494dup (p.Thr2499SerfsTer27)
c.7551_7554dup (p.Thr2519SerfsTer27)
17g.31352323T>ACA399017580NF1c.7506T>A (p.Tyr2502Ter)
c.2088T>A (p.Tyr696Ter)
c.1680T>A (p.Tyr560Ter)
n.4169T>A
c.574T>A
c.7554T>A (p.Tyr2518Ter)
c.7524T>A (p.Tyr2508Ter)
c.7461T>A (p.Tyr2487Ter)
c.6459T>A (p.Tyr2153Ter)
c.907T>A
c.7660T>A (n.7660T>A)
c.600+2005T>A
c.7515T>A (p.Tyr2505Ter)
c.7491T>A (p.Tyr2497Ter)
c.7551T>A (p.Tyr2517Ter)
 dbSNP
17g.31352323T>CCA499239271NF1c.7506T>C (p.Tyr2502=)
c.2088T>C (p.Tyr696=)
c.1680T>C (p.Tyr560=)
n.4169T>C
c.574T>C
c.7554T>C (p.Tyr2518=)
c.7524T>C (p.Tyr2508=)
c.7461T>C (p.Tyr2487=)
c.6459T>C (p.Tyr2153=)
c.907T>C
c.7660T>C (n.7660T>C)
c.600+2005T>C
c.7515T>C (p.Tyr2505=)
c.7491T>C (p.Tyr2497=)
c.7551T>C (p.Tyr2517=)
 dbSNP
17g.31352323T>GCA399017581NF1c.7506T>G (p.Tyr2502Ter)
c.2088T>G (p.Tyr696Ter)
c.1680T>G (p.Tyr560Ter)
n.4169T>G
c.574T>G
c.7554T>G (p.Tyr2518Ter)
c.7524T>G (p.Tyr2508Ter)
c.7461T>G (p.Tyr2487Ter)
c.6459T>G (p.Tyr2153Ter)
c.907T>G
c.7660T>G (n.7660T>G)
c.600+2005T>G
c.7515T>G (p.Tyr2505Ter)
c.7491T>G (p.Tyr2497Ter)
c.7551T>G (p.Tyr2517Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31352323_31352324delCA2573153849NF1c.7506_7507del (p.Pro2503AsnfsTer26)
c.2088_2089del (p.Pro697AsnfsTer26)
c.1680_1681del (p.Pro561AsnfsTer26)
n.4169_4170del
c.574_575del
c.7554_7555del (p.Pro2519AsnfsTer26)
c.7524_7525del (p.Pro2509AsnfsTer26)
c.7461_7462del (p.Pro2488AsnfsTer26)
c.6459_6460del (p.Pro2154AsnfsTer26)
c.907_908del
c.7660_7661del (n.7660_7661del)
c.600+2005_600+2006del
c.7515_7516del (p.Pro2506AsnfsTer26)
c.7491_7492del (p.Pro2498AsnfsTer26)
c.7551_7552del (p.Pro2518AsnfsTer26)
 ClinVar dbSNP
17g.31352324C>ACA399017583NF1c.7507C>A (p.Pro2503Thr)
c.2089C>A (p.Pro697Thr)
c.1681C>A (p.Pro561Thr)
n.4170C>A
c.575C>A
c.7555C>A (p.Pro2519Thr)
c.7525C>A (p.Pro2509Thr)
c.7462C>A (p.Pro2488Thr)
c.6460C>A (p.Pro2154Thr)
c.908C>A
c.7661C>A (n.7661C>A)
c.600+2006C>A
c.7516C>A (p.Pro2506Thr)
c.7492C>A (p.Pro2498Thr)
c.7552C>A (p.Pro2518Thr)
 ClinVar dbSNP
17g.31352324C=CA2255610009NF1c.7507C= (p.Pro2503=)
c.2089C= (p.Pro697=)
c.1681C= (p.Pro561=)
n.4170C=
c.575C=
c.7555C= (p.Pro2519=)
c.7525C= (p.Pro2509=)
c.7462C= (p.Pro2488=)
c.6460C= (p.Pro2154=)
c.908C=
c.7661C= (n.7661C=)
c.600+2006C=
c.7516C= (p.Pro2506=)
c.7492C= (p.Pro2498=)
c.7552C= (p.Pro2518=)
17g.31352324C>GCA399017585NF1c.7507C>G (p.Pro2503Ala)
c.2089C>G (p.Pro697Ala)
c.1681C>G (p.Pro561Ala)
n.4170C>G
c.575C>G
c.7555C>G (p.Pro2519Ala)
c.7525C>G (p.Pro2509Ala)
c.7462C>G (p.Pro2488Ala)
c.6460C>G (p.Pro2154Ala)
c.908C>G
c.7661C>G (n.7661C>G)
c.600+2006C>G
c.7516C>G (p.Pro2506Ala)
c.7492C>G (p.Pro2498Ala)
c.7552C>G (p.Pro2518Ala)
 dbSNP
17g.31352324C>TCA10648998NF1c.7507C>T (p.Pro2503Ser)
c.2089C>T (p.Pro697Ser)
c.1681C>T (p.Pro561Ser)
n.4170C>T
c.575C>T
c.7555C>T (p.Pro2519Ser)
c.7525C>T (p.Pro2509Ser)
c.7462C>T (p.Pro2488Ser)
c.6460C>T (p.Pro2154Ser)
c.908C>T
c.7661C>T (n.7661C>T)
c.600+2006C>T
c.7516C>T (p.Pro2506Ser)
c.7492C>T (p.Pro2498Ser)
c.7552C>T (p.Pro2518Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31352325dupCA2573153850NF1c.7508dup (p.Thr2504AsnfsTer26)
c.2090dup (p.Thr698AsnfsTer26)
c.1682dup (p.Thr562AsnfsTer26)
n.4171dup
c.576dup
c.7556dup (p.Thr2520AsnfsTer26)
c.7526dup (p.Thr2510AsnfsTer26)
c.7463dup (p.Thr2489AsnfsTer26)
c.6461dup (p.Thr2155AsnfsTer26)
c.909dup
c.7662dup (n.7662dup)
c.600+2007dup
c.7517dup (p.Thr2507AsnfsTer26)
c.7493dup (p.Thr2499AsnfsTer26)
c.7553dup (p.Thr2519AsnfsTer26)
 ClinVar dbSNP
17g.31352325delCA2695225510NF1c.7508del (p.Pro2503GlnfsTer14)
c.2090del (p.Pro697GlnfsTer14)
c.1682del (p.Pro561GlnfsTer14)
n.4171del
c.576del
c.7556del (p.Pro2519GlnfsTer14)
c.7526del (p.Pro2509GlnfsTer14)
c.7463del (p.Pro2488GlnfsTer14)
c.6461del (p.Pro2154GlnfsTer14)
c.909del
c.7662del (n.7662del)
c.600+2007del
c.7517del (p.Pro2506GlnfsTer14)
c.7493del (p.Pro2498GlnfsTer14)
c.7553del (p.Pro2518GlnfsTer14)
17g.31352325C>ACA399017587NF1c.7508C>A (p.Pro2503Gln)
c.2090C>A (p.Pro697Gln)
c.1682C>A (p.Pro561Gln)
n.4171C>A
c.576C>A
c.7556C>A (p.Pro2519Gln)
c.7526C>A (p.Pro2509Gln)
c.7463C>A (p.Pro2488Gln)
c.6461C>A (p.Pro2154Gln)
c.909C>A
c.7662C>A (n.7662C>A)
c.600+2007C>A
c.7517C>A (p.Pro2506Gln)
c.7493C>A (p.Pro2498Gln)
c.7553C>A (p.Pro2518Gln)
17g.31352325C=CA2255610013NF1c.7508C= (p.Pro2503=)
c.2090C= (p.Pro697=)
c.1682C= (p.Pro561=)
n.4171C=
c.576C=
c.7556C= (p.Pro2519=)
c.7526C= (p.Pro2509=)
c.7463C= (p.Pro2488=)
c.6461C= (p.Pro2154=)
c.909C=
c.7662C= (n.7662C=)
c.600+2007C=
c.7517C= (p.Pro2506=)
c.7493C= (p.Pro2498=)
c.7553C= (p.Pro2518=)
17g.31352325C>GCA399017589NF1c.7508C>G (p.Pro2503Arg)
c.2090C>G (p.Pro697Arg)
c.1682C>G (p.Pro561Arg)
n.4171C>G
c.576C>G
c.7556C>G (p.Pro2519Arg)
c.7526C>G (p.Pro2509Arg)
c.7463C>G (p.Pro2488Arg)
c.6461C>G (p.Pro2154Arg)
c.909C>G
c.7662C>G (n.7662C>G)
c.600+2007C>G
c.7517C>G (p.Pro2506Arg)
c.7493C>G (p.Pro2498Arg)
c.7553C>G (p.Pro2518Arg)
 ClinVar dbSNP
17g.31352325C>TCA191831NF1c.7508C>T (p.Pro2503Leu)
c.2090C>T (p.Pro697Leu)
c.1682C>T (p.Pro561Leu)
n.4171C>T
c.576C>T
c.7556C>T (p.Pro2519Leu)
c.7526C>T (p.Pro2509Leu)
c.7463C>T (p.Pro2488Leu)
c.6461C>T (p.Pro2154Leu)
c.909C>T
c.7662C>T (n.7662C>T)
c.600+2007C>T
c.7517C>T (p.Pro2506Leu)
c.7493C>T (p.Pro2498Leu)
c.7553C>T (p.Pro2518Leu)
 ClinVar dbSNP gnomAD v4
17g.31352326A>CCA499239272NF1c.7509A>C (p.Pro2503=)
c.2091A>C (p.Pro697=)
c.1683A>C (p.Pro561=)
n.4172A>C
c.577A>C
c.7557A>C (p.Pro2519=)
c.7527A>C (p.Pro2509=)
c.7464A>C (p.Pro2488=)
c.6462A>C (p.Pro2154=)
c.910A>C
c.7663A>C (n.7663A>C)
c.600+2008A>C
c.7518A>C (p.Pro2506=)
c.7494A>C (p.Pro2498=)
c.7554A>C (p.Pro2518=)
 gnomAD v4
17g.31352326A>GCA499239273NF1c.7509A>G (p.Pro2503=)
c.2091A>G (p.Pro697=)
c.1683A>G (p.Pro561=)
n.4172A>G
c.577A>G
c.7557A>G (p.Pro2519=)
c.7527A>G (p.Pro2509=)
c.7464A>G (p.Pro2488=)
c.6462A>G (p.Pro2154=)
c.910A>G
c.7663A>G (n.7663A>G)
c.600+2008A>G
c.7518A>G (p.Pro2506=)
c.7494A>G (p.Pro2498=)
c.7554A>G (p.Pro2518=)
 ClinVar
17g.31352326A>TCA499239274NF1c.7509A>T (p.Pro2503=)
c.2091A>T (p.Pro697=)
c.1683A>T (p.Pro561=)
n.4172A>T
c.577A>T
c.7557A>T (p.Pro2519=)
c.7527A>T (p.Pro2509=)
c.7464A>T (p.Pro2488=)
c.6462A>T (p.Pro2154=)
c.910A>T
c.7663A>T (n.7663A>T)
c.600+2008A>T
c.7518A>T (p.Pro2506=)
c.7494A>T (p.Pro2498=)
c.7554A>T (p.Pro2518=)
 dbSNP
17g.31352326_31352327insTACA2580093415NF1c.7509_7510insTA (p.Thr2504Ter)
c.2091_2092insTA (p.Thr698Ter)
c.1683_1684insTA (p.Thr562Ter)
n.4172_4173insTA
c.577_578insTA
c.7557_7558insTA (p.Thr2520Ter)
c.7527_7528insTA (p.Thr2510Ter)
c.7464_7465insTA (p.Thr2489Ter)
c.6462_6463insTA (p.Thr2155Ter)
c.910_911insTA
c.7663_7664insTA (n.7663_7664insTA)
c.600+2008_600+2009insTA
c.7518_7519insTA (p.Thr2507Ter)
c.7494_7495insTA (p.Thr2499Ter)
c.7554_7555insTA (p.Thr2519Ter)
 ClinVar
17g.31352327A=CA2255610020NF1c.7510A= (p.Thr2504=)
c.2092A= (p.Thr698=)
c.1684A= (p.Thr562=)
n.4173A=
c.578A=
c.7558A= (p.Thr2520=)
c.7528A= (p.Thr2510=)
c.7465A= (p.Thr2489=)
c.6463A= (p.Thr2155=)
c.911A=
c.7664A= (n.7664A=)
c.600+2009A=
c.7519A= (p.Thr2507=)
c.7495A= (p.Thr2499=)
c.7555A= (p.Thr2519=)
17g.31352327A>CCA399017590NF1c.7510A>C (p.Thr2504Pro)
c.2092A>C (p.Thr698Pro)
c.1684A>C (p.Thr562Pro)
n.4173A>C
c.578A>C
c.7558A>C (p.Thr2520Pro)
c.7528A>C (p.Thr2510Pro)
c.7465A>C (p.Thr2489Pro)
c.6463A>C (p.Thr2155Pro)
c.911A>C
c.7664A>C (n.7664A>C)
c.600+2009A>C
c.7519A>C (p.Thr2507Pro)
c.7495A>C (p.Thr2499Pro)
c.7555A>C (p.Thr2519Pro)
 dbSNP
17g.31352327A>GCA190557NF1c.7510A>G (p.Thr2504Ala)
c.2092A>G (p.Thr698Ala)
c.1684A>G (p.Thr562Ala)
n.4173A>G
c.578A>G
c.7558A>G (p.Thr2520Ala)
c.7528A>G (p.Thr2510Ala)
c.7465A>G (p.Thr2489Ala)
c.6463A>G (p.Thr2155Ala)
c.911A>G
c.7664A>G (n.7664A>G)
c.600+2009A>G
c.7519A>G (p.Thr2507Ala)
c.7495A>G (p.Thr2499Ala)
c.7555A>G (p.Thr2519Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352327A>TCA399017592NF1c.7510A>T (p.Thr2504Ser)
c.2092A>T (p.Thr698Ser)
c.1684A>T (p.Thr562Ser)
n.4173A>T
c.578A>T
c.7558A>T (p.Thr2520Ser)
c.7528A>T (p.Thr2510Ser)
c.7465A>T (p.Thr2489Ser)
c.6463A>T (p.Thr2155Ser)
c.911A>T
c.7664A>T (n.7664A>T)
c.600+2009A>T
c.7519A>T (p.Thr2507Ser)
c.7495A>T (p.Thr2499Ser)
c.7555A>T (p.Thr2519Ser)
 dbSNP
17g.31352328C>ACA399017594NF1c.7511C>A (p.Thr2504Asn)
c.2093C>A (p.Thr698Asn)
c.1685C>A (p.Thr562Asn)
n.4174C>A
c.579C>A
c.7559C>A (p.Thr2520Asn)
c.7529C>A (p.Thr2510Asn)
c.7466C>A (p.Thr2489Asn)
c.6464C>A (p.Thr2155Asn)
c.912C>A
c.7665C>A (n.7665C>A)
c.600+2010C>A
c.7520C>A (p.Thr2507Asn)
c.7496C>A (p.Thr2499Asn)
c.7556C>A (p.Thr2519Asn)
 dbSNP
17g.31352328C>GCA399017597NF1c.7511C>G (p.Thr2504Ser)
c.2093C>G (p.Thr698Ser)
c.1685C>G (p.Thr562Ser)
n.4174C>G
c.579C>G
c.7559C>G (p.Thr2520Ser)
c.7529C>G (p.Thr2510Ser)
c.7466C>G (p.Thr2489Ser)
c.6464C>G (p.Thr2155Ser)
c.912C>G
c.7665C>G (n.7665C>G)
c.600+2010C>G
c.7520C>G (p.Thr2507Ser)
c.7496C>G (p.Thr2499Ser)
c.7556C>G (p.Thr2519Ser)
 dbSNP
17g.31352328C>TCA399017595NF1c.7511C>T (p.Thr2504Ile)
c.2093C>T (p.Thr698Ile)
c.1685C>T (p.Thr562Ile)
n.4174C>T
c.579C>T
c.7559C>T (p.Thr2520Ile)
c.7529C>T (p.Thr2510Ile)
c.7466C>T (p.Thr2489Ile)
c.6464C>T (p.Thr2155Ile)
c.912C>T
c.7665C>T (n.7665C>T)
c.600+2010C>T
c.7520C>T (p.Thr2507Ile)
c.7496C>T (p.Thr2499Ile)
c.7556C>T (p.Thr2519Ile)
 dbSNP
17g.31352328_31352330delinsCTGCA2255610023NF1c.7511_7513delinsCTG (p.Thr2504=)
c.2093_2095delinsCTG (p.Thr698=)
c.1685_1687delinsCTG (p.Thr562=)
n.4174_4176delinsCTG
c.579_581delinsCTG
c.7559_7561delinsCTG (p.Thr2520=)
c.7529_7531delinsCTG (p.Thr2510=)
c.7466_7468delinsCTG (p.Thr2489=)
c.6464_6466delinsCTG (p.Thr2155=)
c.912_914delinsCTG
c.7665_7667delinsCTG (n.7665_7667delinsCTG)
c.600+2010_600+2012delinsCTG
c.7520_7522delinsCTG (p.Thr2507=)
c.7496_7498delinsCTG (p.Thr2499=)
c.7556_7558delinsCTG (p.Thr2519=)
17g.31352329delCA2695225511NF1c.7512del (p.Val2505SerfsTer12)
c.2094del (p.Val699SerfsTer12)
c.1686del (p.Val563SerfsTer12)
n.4175del
c.580del
c.7560del (p.Val2521SerfsTer12)
c.7530del (p.Val2511SerfsTer12)
c.7467del (p.Val2490SerfsTer12)
c.6465del (p.Val2156SerfsTer12)
c.913del
c.7666del (n.7666del)
c.600+2011del
c.7521del (p.Val2508SerfsTer12)
c.7497del (p.Val2500SerfsTer12)
c.7557del (p.Val2520SerfsTer12)
17g.31352329T>ACA499239275NF1c.7512T>A (p.Thr2504=)
c.2094T>A (p.Thr698=)
c.1686T>A (p.Thr562=)
n.4175T>A
c.580T>A
c.7560T>A (p.Thr2520=)
c.7530T>A (p.Thr2510=)
c.7467T>A (p.Thr2489=)
c.6465T>A (p.Thr2155=)
c.913T>A
c.7666T>A (n.7666T>A)
c.600+2011T>A
c.7521T>A (p.Thr2507=)
c.7497T>A (p.Thr2499=)
c.7557T>A (p.Thr2519=)
 ClinVar dbSNP
17g.31352329T>CCA499239276NF1c.7512T>C (p.Thr2504=)
c.2094T>C (p.Thr698=)
c.1686T>C (p.Thr562=)
n.4175T>C
c.580T>C
c.7560T>C (p.Thr2520=)
c.7530T>C (p.Thr2510=)
c.7467T>C (p.Thr2489=)
c.6465T>C (p.Thr2155=)
c.913T>C
c.7666T>C (n.7666T>C)
c.600+2011T>C
c.7521T>C (p.Thr2507=)
c.7497T>C (p.Thr2499=)
c.7557T>C (p.Thr2519=)
 ClinVar dbSNP
17g.31352329T>GCA499239277NF1c.7512T>G (p.Thr2504=)
c.2094T>G (p.Thr698=)
c.1686T>G (p.Thr562=)
n.4175T>G
c.580T>G
c.7560T>G (p.Thr2520=)
c.7530T>G (p.Thr2510=)
c.7467T>G (p.Thr2489=)
c.6465T>G (p.Thr2155=)
c.913T>G
c.7666T>G (n.7666T>G)
c.600+2011T>G
c.7521T>G (p.Thr2507=)
c.7497T>G (p.Thr2499=)
c.7557T>G (p.Thr2519=)
 ClinVar
17g.31352329T=CA2255610026NF1c.7512T= (p.Thr2504=)
c.2094T= (p.Thr698=)
c.1686T= (p.Thr562=)
n.4175T=
c.580T=
c.7560T= (p.Thr2520=)
c.7530T= (p.Thr2510=)
c.7467T= (p.Thr2489=)
c.6465T= (p.Thr2155=)
c.913T=
c.7666T= (n.7666T=)
c.600+2011T=
c.7521T= (p.Thr2507=)
c.7497T= (p.Thr2499=)
c.7557T= (p.Thr2519=)
17g.31352330_31352331delCA916080674NF1c.7513_7514del (p.Val2505ArgfsTer24)
c.2095_2096del (p.Val699ArgfsTer24)
c.1687_1688del (p.Val563ArgfsTer24)
n.4176_4177del
c.581_582del
c.7561_7562del (p.Val2521ArgfsTer24)
c.7531_7532del (p.Val2511ArgfsTer24)
c.7468_7469del (p.Val2490ArgfsTer24)
c.6466_6467del (p.Val2156ArgfsTer24)
c.914_915del
c.7667_7668del (n.7667_7668del)
c.600+2012_600+2013del
c.7522_7523del (p.Val2508ArgfsTer24)
c.7498_7499del (p.Val2500ArgfsTer24)
c.7558_7559del (p.Val2520ArgfsTer24)
 ClinVar dbSNP
17g.31352330G>ACA399017598NF1c.7513G>A (p.Val2505Ile)
c.2095G>A (p.Val699Ile)
c.1687G>A (p.Val563Ile)
n.4176G>A
c.581G>A
c.7561G>A (p.Val2521Ile)
c.7531G>A (p.Val2511Ile)
c.7468G>A (p.Val2490Ile)
c.6466G>A (p.Val2156Ile)
c.914G>A
c.7667G>A (n.7667G>A)
c.600+2012G>A
c.7522G>A (p.Val2508Ile)
c.7498G>A (p.Val2500Ile)
c.7558G>A (p.Val2520Ile)
 ClinVar dbSNP gnomAD v4
17g.31352330G>CCA161070NF1c.7513G>C (p.Val2505Leu)
c.2095G>C (p.Val699Leu)
c.1687G>C (p.Val563Leu)
n.4176G>C
c.581G>C
c.7561G>C (p.Val2521Leu)
c.7531G>C (p.Val2511Leu)
c.7468G>C (p.Val2490Leu)
c.6466G>C (p.Val2156Leu)
c.914G>C
c.7667G>C (n.7667G>C)
c.600+2012G>C
c.7522G>C (p.Val2508Leu)
c.7498G>C (p.Val2500Leu)
c.7558G>C (p.Val2520Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352330G=CA2255610029NF1c.7513G= (p.Val2505=)
c.2095G= (p.Val699=)
c.1687G= (p.Val563=)
n.4176G=
c.581G=
c.7561G= (p.Val2521=)
c.7531G= (p.Val2511=)
c.7468G= (p.Val2490=)
c.6466G= (p.Val2156=)
c.914G=
c.7667G= (n.7667G=)
c.600+2012G=
c.7522G= (p.Val2508=)
c.7498G= (p.Val2500=)
c.7558G= (p.Val2520=)
17g.31352330G>TCA399017600NF1c.7513G>T (p.Val2505Phe)
c.2095G>T (p.Val699Phe)
c.1687G>T (p.Val563Phe)
n.4176G>T
c.581G>T
c.7561G>T (p.Val2521Phe)
c.7531G>T (p.Val2511Phe)
c.7468G>T (p.Val2490Phe)
c.6466G>T (p.Val2156Phe)
c.914G>T
c.7667G>T (n.7667G>T)
c.600+2012G>T
c.7522G>T (p.Val2508Phe)
c.7498G>T (p.Val2500Phe)
c.7558G>T (p.Val2520Phe)
17g.31352331T>ACA399017603NF1c.7514T>A (p.Val2505Asp)
c.2096T>A (p.Val699Asp)
c.1688T>A (p.Val563Asp)
n.4177T>A
c.582T>A
c.7562T>A (p.Val2521Asp)
c.7532T>A (p.Val2511Asp)
c.7469T>A (p.Val2490Asp)
c.6467T>A (p.Val2156Asp)
c.915T>A
c.7668T>A (n.7668T>A)
c.600+2013T>A
c.7523T>A (p.Val2508Asp)
c.7499T>A (p.Val2500Asp)
c.7559T>A (p.Val2520Asp)
 dbSNP
17g.31352331T>CCA399017604NF1c.7514T>C (p.Val2505Ala)
c.2096T>C (p.Val699Ala)
c.1688T>C (p.Val563Ala)
n.4177T>C
c.582T>C
c.7562T>C (p.Val2521Ala)
c.7532T>C (p.Val2511Ala)
c.7469T>C (p.Val2490Ala)
c.6467T>C (p.Val2156Ala)
c.915T>C
c.7668T>C (n.7668T>C)
c.600+2013T>C
c.7523T>C (p.Val2508Ala)
c.7499T>C (p.Val2500Ala)
c.7559T>C (p.Val2520Ala)
 dbSNP
17g.31352331T>GCA399017605NF1c.7514T>G (p.Val2505Gly)
c.2096T>G (p.Val699Gly)
c.1688T>G (p.Val563Gly)
n.4177T>G
c.582T>G
c.7562T>G (p.Val2521Gly)
c.7532T>G (p.Val2511Gly)
c.7469T>G (p.Val2490Gly)
c.6467T>G (p.Val2156Gly)
c.915T>G
c.7668T>G (n.7668T>G)
c.600+2013T>G
c.7523T>G (p.Val2508Gly)
c.7499T>G (p.Val2500Gly)
c.7559T>G (p.Val2520Gly)
 dbSNP
17g.31352331T=CA2255610036NF1c.7514T= (p.Val2505=)
c.2096T= (p.Val699=)
c.1688T= (p.Val563=)
n.4177T=
c.582T=
c.7562T= (p.Val2521=)
c.7532T= (p.Val2511=)
c.7469T= (p.Val2490=)
c.6467T= (p.Val2156=)
c.915T=
c.7668T= (n.7668T=)
c.600+2013T=
c.7523T= (p.Val2508=)
c.7499T= (p.Val2500=)
c.7559T= (p.Val2520=)
17g.31352332C>ACA499239278NF1c.7515C>A (p.Val2505=)
c.2097C>A (p.Val699=)
c.1689C>A (p.Val563=)
n.4178C>A
c.583C>A
c.7563C>A (p.Val2521=)
c.7533C>A (p.Val2511=)
c.7470C>A (p.Val2490=)
c.6468C>A (p.Val2156=)
c.916C>A
c.7669C>A (n.7669C>A)
c.600+2014C>A
c.7524C>A (p.Val2508=)
c.7500C>A (p.Val2500=)
c.7560C>A (p.Val2520=)
 dbSNP
17g.31352332C=CA2255610040NF1c.7515C= (p.Val2505=)
c.2097C= (p.Val699=)
c.1689C= (p.Val563=)
n.4178C=
c.583C=
c.7563C= (p.Val2521=)
c.7533C= (p.Val2511=)
c.7470C= (p.Val2490=)
c.6468C= (p.Val2156=)
c.916C=
c.7669C= (n.7669C=)
c.600+2014C=
c.7524C= (p.Val2508=)
c.7500C= (p.Val2500=)
c.7560C= (p.Val2520=)
17g.31352332C>GCA499239279NF1c.7515C>G (p.Val2505=)
c.2097C>G (p.Val699=)
c.1689C>G (p.Val563=)
n.4178C>G
c.583C>G
c.7563C>G (p.Val2521=)
c.7533C>G (p.Val2511=)
c.7470C>G (p.Val2490=)
c.6468C>G (p.Val2156=)
c.916C>G
c.7669C>G (n.7669C>G)
c.600+2014C>G
c.7524C>G (p.Val2508=)
c.7500C>G (p.Val2500=)
c.7560C>G (p.Val2520=)
 ClinVar dbSNP
17g.31352332C>TCA8487605NF1c.7515C>T (p.Val2505=)
c.2097C>T (p.Val699=)
c.1689C>T (p.Val563=)
n.4178C>T
c.583C>T
c.7563C>T (p.Val2521=)
c.7533C>T (p.Val2511=)
c.7470C>T (p.Val2490=)
c.6468C>T (p.Val2156=)
c.916C>T
c.7669C>T (n.7669C>T)
c.600+2014C>T
c.7524C>T (p.Val2508=)
c.7500C>T (p.Val2500=)
c.7560C>T (p.Val2520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.31352333_31352336dupCA916080675NF1c.7516_7519dup (p.Gln2507ArgfsTer24)
c.2098_2101dup (p.Gln701ArgfsTer24)
c.1690_1693dup (p.Gln565ArgfsTer24)
n.4179_4182dup
c.584_587dup
c.7564_7567dup (p.Gln2523ArgfsTer24)
c.7534_7537dup (p.Gln2513ArgfsTer24)
c.7471_7474dup (p.Gln2492ArgfsTer24)
c.6469_6472dup (p.Gln2158ArgfsTer24)
c.917_920dup
c.7670_7673dup (n.7670_7673dup)
c.600+2015_600+2018dup
c.7525_7528dup (p.Gln2510ArgfsTer24)
c.7501_7504dup (p.Gln2502ArgfsTer24)
c.7561_7564dup (p.Gln2522ArgfsTer24)
 ClinVar dbSNP
17g.31352333G>ACA8487606NF1c.7516G>A (p.Gly2506Ser)
c.2098G>A (p.Gly700Ser)
c.1690G>A (p.Gly564Ser)
n.4179G>A
c.584G>A
c.7564G>A (p.Gly2522Ser)
c.7534G>A (p.Gly2512Ser)
c.7471G>A (p.Gly2491Ser)
c.6469G>A (p.Gly2157Ser)
c.917G>A
c.7670G>A (n.7670G>A)
c.600+2015G>A
c.7525G>A (p.Gly2509Ser)
c.7501G>A (p.Gly2501Ser)
c.7561G>A (p.Gly2521Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.31352333G>CCA399017608NF1c.7516G>C (p.Gly2506Arg)
c.2098G>C (p.Gly700Arg)
c.1690G>C (p.Gly564Arg)
n.4179G>C
c.584G>C
c.7564G>C (p.Gly2522Arg)
c.7534G>C (p.Gly2512Arg)
c.7471G>C (p.Gly2491Arg)
c.6469G>C (p.Gly2157Arg)
c.917G>C
c.7670G>C (n.7670G>C)
c.600+2015G>C
c.7525G>C (p.Gly2509Arg)
c.7501G>C (p.Gly2501Arg)
c.7561G>C (p.Gly2521Arg)
 dbSNP COSMIC COSMIC COSMIC
17g.31352333G=CA2255610046NF1c.7516G= (p.Gly2506=)
c.2098G= (p.Gly700=)
c.1690G= (p.Gly564=)
n.4179G=
c.584G=
c.7564G= (p.Gly2522=)
c.7534G= (p.Gly2512=)
c.7471G= (p.Gly2491=)
c.6469G= (p.Gly2157=)
c.917G=
c.7670G= (n.7670G=)
c.600+2015G=
c.7525G= (p.Gly2509=)
c.7501G= (p.Gly2501=)
c.7561G= (p.Gly2521=)
17g.31352333G>TCA399017609NF1c.7516G>T (p.Gly2506Cys)
c.2098G>T (p.Gly700Cys)
c.1690G>T (p.Gly564Cys)
n.4179G>T
c.584G>T
c.7564G>T (p.Gly2522Cys)
c.7534G>T (p.Gly2512Cys)
c.7471G>T (p.Gly2491Cys)
c.6469G>T (p.Gly2157Cys)
c.917G>T
c.7670G>T (n.7670G>T)
c.600+2015G>T
c.7525G>T (p.Gly2509Cys)
c.7501G>T (p.Gly2501Cys)
c.7561G>T (p.Gly2521Cys)
 dbSNP
17g.31352334G>ACA399017611NF1c.7517G>A (p.Gly2506Asp)
c.2099G>A (p.Gly700Asp)
c.1691G>A (p.Gly564Asp)
n.4180G>A
c.585G>A
c.7565G>A (p.Gly2522Asp)
c.7535G>A (p.Gly2512Asp)
c.7472G>A (p.Gly2491Asp)
c.6470G>A (p.Gly2157Asp)
c.918G>A
c.7671G>A (n.7671G>A)
c.600+2016G>A
c.7526G>A (p.Gly2509Asp)
c.7502G>A (p.Gly2501Asp)
c.7562G>A (p.Gly2521Asp)
 dbSNP
17g.31352334G>CCA399017613NF1c.7517G>C (p.Gly2506Ala)
c.2099G>C (p.Gly700Ala)
c.1691G>C (p.Gly564Ala)
n.4180G>C
c.585G>C
c.7565G>C (p.Gly2522Ala)
c.7535G>C (p.Gly2512Ala)
c.7472G>C (p.Gly2491Ala)
c.6470G>C (p.Gly2157Ala)
c.918G>C
c.7671G>C (n.7671G>C)
c.600+2016G>C
c.7526G>C (p.Gly2509Ala)
c.7502G>C (p.Gly2501Ala)
c.7562G>C (p.Gly2521Ala)
17g.31352334G>TCA399017614NF1c.7517G>T (p.Gly2506Val)
c.2099G>T (p.Gly700Val)
c.1691G>T (p.Gly564Val)
n.4180G>T
c.585G>T
c.7565G>T (p.Gly2522Val)
c.7535G>T (p.Gly2512Val)
c.7472G>T (p.Gly2491Val)
c.6470G>T (p.Gly2157Val)
c.918G>T
c.7671G>T (n.7671G>T)
c.600+2016G>T
c.7526G>T (p.Gly2509Val)
c.7502G>T (p.Gly2501Val)
c.7562G>T (p.Gly2521Val)
17g.31352335C>ACA499239280NF1c.7518C>A (p.Gly2506=)
c.2100C>A (p.Gly700=)
c.1692C>A (p.Gly564=)
n.4181C>A
c.586C>A
c.7566C>A (p.Gly2522=)
c.7536C>A (p.Gly2512=)
c.7473C>A (p.Gly2491=)
c.6471C>A (p.Gly2157=)
c.919C>A
c.7672C>A (n.7672C>A)
c.600+2017C>A
c.7527C>A (p.Gly2509=)
c.7503C>A (p.Gly2501=)
c.7563C>A (p.Gly2521=)
 dbSNP
17g.31352335C=CA2255610052NF1c.7518C= (p.Gly2506=)
c.2100C= (p.Gly700=)
c.1692C= (p.Gly564=)
n.4181C=
c.586C=
c.7566C= (p.Gly2522=)
c.7536C= (p.Gly2512=)
c.7473C= (p.Gly2491=)
c.6471C= (p.Gly2157=)
c.919C=
c.7672C= (n.7672C=)
c.600+2017C=
c.7527C= (p.Gly2509=)
c.7503C= (p.Gly2501=)
c.7563C= (p.Gly2521=)
17g.31352335C>GCA499239281NF1c.7518C>G (p.Gly2506=)
c.2100C>G (p.Gly700=)
c.1692C>G (p.Gly564=)
n.4181C>G
c.586C>G
c.7566C>G (p.Gly2522=)
c.7536C>G (p.Gly2512=)
c.7473C>G (p.Gly2491=)
c.6471C>G (p.Gly2157=)
c.919C>G
c.7672C>G (n.7672C>G)
c.600+2017C>G
c.7527C>G (p.Gly2509=)
c.7503C>G (p.Gly2501=)
c.7563C>G (p.Gly2521=)
 dbSNP
17g.31352335C>TCA195745NF1c.7518C>T (p.Gly2506=)
c.2100C>T (p.Gly700=)
c.1692C>T (p.Gly564=)
n.4181C>T
c.586C>T
c.7566C>T (p.Gly2522=)
c.7536C>T (p.Gly2512=)
c.7473C>T (p.Gly2491=)
c.6471C>T (p.Gly2157=)
c.919C>T
c.7672C>T (n.7672C>T)
c.600+2017C>T
c.7527C>T (p.Gly2509=)
c.7503C>T (p.Gly2501=)
c.7563C>T (p.Gly2521=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31352336C>ACA399017618NF1c.7519C>A (p.Gln2507Lys)
c.2101C>A (p.Gln701Lys)
c.1693C>A (p.Gln565Lys)
n.4182C>A
c.587C>A
c.7567C>A (p.Gln2523Lys)
c.7537C>A (p.Gln2513Lys)
c.7474C>A (p.Gln2492Lys)
c.6472C>A (p.Gln2158Lys)
c.920C>A
c.7673C>A (n.7673C>A)
c.600+2018C>A
c.7528C>A (p.Gln2510Lys)
c.7504C>A (p.Gln2502Lys)
c.7564C>A (p.Gln2522Lys)
 dbSNP
17g.31352336C=CA2255610055NF1c.7519C= (p.Gln2507=)
c.2101C= (p.Gln701=)
c.1693C= (p.Gln565=)
n.4182C=
c.587C=
c.7567C= (p.Gln2523=)
c.7537C= (p.Gln2513=)
c.7474C= (p.Gln2492=)
c.6472C= (p.Gln2158=)
c.920C=
c.7673C= (n.7673C=)
c.600+2018C=
c.7528C= (p.Gln2510=)
c.7504C= (p.Gln2502=)
c.7564C= (p.Gln2522=)
17g.31352336C>GCA399017617NF1c.7519C>G (p.Gln2507Glu)
c.2101C>G (p.Gln701Glu)
c.1693C>G (p.Gln565Glu)
n.4182C>G
c.587C>G
c.7567C>G (p.Gln2523Glu)
c.7537C>G (p.Gln2513Glu)
c.7474C>G (p.Gln2492Glu)
c.6472C>G (p.Gln2158Glu)
c.920C>G
c.7673C>G (n.7673C>G)
c.600+2018C>G
c.7528C>G (p.Gln2510Glu)
c.7504C>G (p.Gln2502Glu)
c.7564C>G (p.Gln2522Glu)
 dbSNP
17g.31352336C>TCA399017616NF1c.7519C>T (p.Gln2507Ter)
c.2101C>T (p.Gln701Ter)
c.1693C>T (p.Gln565Ter)
n.4182C>T
c.587C>T
c.7567C>T (p.Gln2523Ter)
c.7537C>T (p.Gln2513Ter)
c.7474C>T (p.Gln2492Ter)
c.6472C>T (p.Gln2158Ter)
c.920C>T
c.7673C>T (n.7673C>T)
c.600+2018C>T
c.7528C>T (p.Gln2510Ter)
c.7504C>T (p.Gln2502Ter)
c.7564C>T (p.Gln2522Ter)
 ClinVar dbSNP
17g.31352337A>CCA399017620NF1c.7520A>C (p.Gln2507Pro)
c.2102A>C (p.Gln701Pro)
c.1694A>C (p.Gln565Pro)
n.4183A>C
c.588A>C
c.7568A>C (p.Gln2523Pro)
c.7538A>C (p.Gln2513Pro)
c.7475A>C (p.Gln2492Pro)
c.6473A>C (p.Gln2158Pro)
c.921A>C
c.7674A>C (n.7674A>C)
c.600+2019A>C
c.7529A>C (p.Gln2510Pro)
c.7505A>C (p.Gln2502Pro)
c.7565A>C (p.Gln2522Pro)
17g.31352337A>GCA399017622NF1c.7520A>G (p.Gln2507Arg)
c.2102A>G (p.Gln701Arg)
c.1694A>G (p.Gln565Arg)
n.4183A>G
c.588A>G
c.7568A>G (p.Gln2523Arg)
c.7538A>G (p.Gln2513Arg)
c.7475A>G (p.Gln2492Arg)
c.6473A>G (p.Gln2158Arg)
c.921A>G
c.7674A>G (n.7674A>G)
c.600+2019A>G
c.7529A>G (p.Gln2510Arg)
c.7505A>G (p.Gln2502Arg)
c.7565A>G (p.Gln2522Arg)
17g.31352337A>TCA399017623NF1c.7520A>T (p.Gln2507Leu)
c.2102A>T (p.Gln701Leu)
c.1694A>T (p.Gln565Leu)
n.4183A>T
c.588A>T
c.7568A>T (p.Gln2523Leu)
c.7538A>T (p.Gln2513Leu)
c.7475A>T (p.Gln2492Leu)
c.6473A>T (p.Gln2158Leu)
c.921A>T
c.7674A>T (n.7674A>T)
c.600+2019A>T
c.7529A>T (p.Gln2510Leu)
c.7505A>T (p.Gln2502Leu)
c.7565A>T (p.Gln2522Leu)
 dbSNP
17g.31352338G>ACA499239282NF1c.7521G>A (p.Gln2507=)
c.2103G>A (p.Gln701=)
c.1695G>A (p.Gln565=)
n.4184G>A
c.589G>A
c.7569G>A (p.Gln2523=)
c.7539G>A (p.Gln2513=)
c.7476G>A (p.Gln2492=)
c.6474G>A (p.Gln2158=)
c.922G>A
c.7675G>A (n.7675G>A)
c.600+2020G>A
c.7530G>A (p.Gln2510=)
c.7506G>A (p.Gln2502=)
c.7566G>A (p.Gln2522=)
 dbSNP
17g.31352338G>CCA399017625NF1c.7521G>C (p.Gln2507His)
c.2103G>C (p.Gln701His)
c.1695G>C (p.Gln565His)
n.4184G>C
c.589G>C
c.7569G>C (p.Gln2523His)
c.7539G>C (p.Gln2513His)
c.7476G>C (p.Gln2492His)
c.6474G>C (p.Gln2158His)
c.922G>C
c.7675G>C (n.7675G>C)
c.600+2020G>C
c.7530G>C (p.Gln2510His)
c.7506G>C (p.Gln2502His)
c.7566G>C (p.Gln2522His)
 ClinVar dbSNP gnomAD v4
17g.31352338G=CA2255610058NF1c.7521G= (p.Gln2507=)
c.2103G= (p.Gln701=)
c.1695G= (p.Gln565=)
n.4184G=
c.589G=
c.7569G= (p.Gln2523=)
c.7539G= (p.Gln2513=)
c.7476G= (p.Gln2492=)
c.6474G= (p.Gln2158=)
c.922G=
c.7675G= (n.7675G=)
c.600+2020G=
c.7530G= (p.Gln2510=)
c.7506G= (p.Gln2502=)
c.7566G= (p.Gln2522=)
17g.31352338G>TCA399017626NF1c.7521G>T (p.Gln2507His)
c.2103G>T (p.Gln701His)
c.1695G>T (p.Gln565His)
n.4184G>T
c.589G>T
c.7569G>T (p.Gln2523His)
c.7539G>T (p.Gln2513His)
c.7476G>T (p.Gln2492His)
c.6474G>T (p.Gln2158His)
c.922G>T
c.7675G>T (n.7675G>T)
c.600+2020G>T
c.7530G>T (p.Gln2510His)
c.7506G>T (p.Gln2502His)
c.7566G>T (p.Gln2522His)
17g.31352339A=CA2255610060NF1c.7522A= (p.Thr2508=)
c.2104A= (p.Thr702=)
c.1696A= (p.Thr566=)
n.4185A=
c.590A=
c.7570A= (p.Thr2524=)
c.7540A= (p.Thr2514=)
c.7477A= (p.Thr2493=)
c.6475A= (p.Thr2159=)
c.923A=
c.7676A= (n.7676A=)
c.600+2021A=
c.7531A= (p.Thr2511=)
c.7507A= (p.Thr2503=)
c.7567A= (p.Thr2523=)
17g.31352339A>CCA399017628NF1c.7522A>C (p.Thr2508Pro)
c.2104A>C (p.Thr702Pro)
c.1696A>C (p.Thr566Pro)
n.4185A>C
c.590A>C
c.7570A>C (p.Thr2524Pro)
c.7540A>C (p.Thr2514Pro)
c.7477A>C (p.Thr2493Pro)
c.6475A>C (p.Thr2159Pro)
c.923A>C
c.7676A>C (n.7676A>C)
c.600+2021A>C
c.7531A>C (p.Thr2511Pro)
c.7507A>C (p.Thr2503Pro)
c.7567A>C (p.Thr2523Pro)
 dbSNP
17g.31352339A>GCA399017629NF1c.7522A>G (p.Thr2508Ala)
c.2104A>G (p.Thr702Ala)
c.1696A>G (p.Thr566Ala)
n.4185A>G
c.590A>G
c.7570A>G (p.Thr2524Ala)
c.7540A>G (p.Thr2514Ala)
c.7477A>G (p.Thr2493Ala)
c.6475A>G (p.Thr2159Ala)
c.923A>G
c.7676A>G (n.7676A>G)
c.600+2021A>G
c.7531A>G (p.Thr2511Ala)
c.7507A>G (p.Thr2503Ala)
c.7567A>G (p.Thr2523Ala)
 ClinVar dbSNP gnomAD v4
17g.31352339A>TCA399017630NF1c.7522A>T (p.Thr2508Ser)
c.2104A>T (p.Thr702Ser)
c.1696A>T (p.Thr566Ser)
n.4185A>T
c.590A>T
c.7570A>T (p.Thr2524Ser)
c.7540A>T (p.Thr2514Ser)
c.7477A>T (p.Thr2493Ser)
c.6475A>T (p.Thr2159Ser)
c.923A>T
c.7676A>T (n.7676A>T)
c.600+2021A>T
c.7531A>T (p.Thr2511Ser)
c.7507A>T (p.Thr2503Ser)
c.7567A>T (p.Thr2523Ser)
 dbSNP
17g.31352340C>ACA399017632NF1c.7523C>A (p.Thr2508Asn)
c.2105C>A (p.Thr702Asn)
c.1697C>A (p.Thr566Asn)
n.4186C>A
c.591C>A
c.7571C>A (p.Thr2524Asn)
c.7541C>A (p.Thr2514Asn)
c.7478C>A (p.Thr2493Asn)
c.6476C>A (p.Thr2159Asn)
c.924C>A
c.7677C>A (n.7677C>A)
c.600+2022C>A
c.7532C>A (p.Thr2511Asn)
c.7508C>A (p.Thr2503Asn)
c.7568C>A (p.Thr2523Asn)
 dbSNP
17g.31352340C>GCA399017634NF1c.7523C>G (p.Thr2508Ser)
c.2105C>G (p.Thr702Ser)
c.1697C>G (p.Thr566Ser)
n.4186C>G
c.591C>G
c.7571C>G (p.Thr2524Ser)
c.7541C>G (p.Thr2514Ser)
c.7478C>G (p.Thr2493Ser)
c.6476C>G (p.Thr2159Ser)
c.924C>G
c.7677C>G (n.7677C>G)
c.600+2022C>G
c.7532C>G (p.Thr2511Ser)
c.7508C>G (p.Thr2503Ser)
c.7568C>G (p.Thr2523Ser)
 dbSNP
17g.31352340C>TCA399017636NF1c.7523C>T (p.Thr2508Ile)
c.2105C>T (p.Thr702Ile)
c.1697C>T (p.Thr566Ile)
n.4186C>T
c.591C>T
c.7571C>T (p.Thr2524Ile)
c.7541C>T (p.Thr2514Ile)
c.7478C>T (p.Thr2493Ile)
c.6476C>T (p.Thr2159Ile)
c.924C>T
c.7677C>T (n.7677C>T)
c.600+2022C>T
c.7532C>T (p.Thr2511Ile)
c.7508C>T (p.Thr2503Ile)
c.7568C>T (p.Thr2523Ile)
 dbSNP
17g.31352341C>ACA499239285NF1c.7524C>A (p.Thr2508=)
c.2106C>A (p.Thr702=)
c.1698C>A (p.Thr566=)
n.4187C>A
c.592C>A
c.7572C>A (p.Thr2524=)
c.7542C>A (p.Thr2514=)
c.7479C>A (p.Thr2493=)
c.6477C>A (p.Thr2159=)
c.925C>A
c.7678C>A (n.7678C>A)
c.600+2023C>A
c.7533C>A (p.Thr2511=)
c.7509C>A (p.Thr2503=)
c.7569C>A (p.Thr2523=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31352341C=CA2255610063NF1c.7524C= (p.Thr2508=)
c.2106C= (p.Thr702=)
c.1698C= (p.Thr566=)
n.4187C=
c.592C=
c.7572C= (p.Thr2524=)
c.7542C= (p.Thr2514=)
c.7479C= (p.Thr2493=)
c.6477C= (p.Thr2159=)
c.925C=
c.7678C= (n.7678C=)
c.600+2023C=
c.7533C= (p.Thr2511=)
c.7509C= (p.Thr2503=)
c.7569C= (p.Thr2523=)
17g.31352341C>GCA499239284NF1c.7524C>G (p.Thr2508=)
c.2106C>G (p.Thr702=)
c.1698C>G (p.Thr566=)
n.4187C>G
c.592C>G
c.7572C>G (p.Thr2524=)
c.7542C>G (p.Thr2514=)
c.7479C>G (p.Thr2493=)
c.6477C>G (p.Thr2159=)
c.925C>G
c.7678C>G (n.7678C>G)
c.600+2023C>G
c.7533C>G (p.Thr2511=)
c.7509C>G (p.Thr2503=)
c.7569C>G (p.Thr2523=)
17g.31352341C>TCA499239283NF1c.7524C>T (p.Thr2508=)
c.2106C>T (p.Thr702=)
c.1698C>T (p.Thr566=)
n.4187C>T
c.592C>T
c.7572C>T (p.Thr2524=)
c.7542C>T (p.Thr2514=)
c.7479C>T (p.Thr2493=)
c.6477C>T (p.Thr2159=)
c.925C>T
c.7678C>T (n.7678C>T)
c.600+2023C>T
c.7533C>T (p.Thr2511=)
c.7509C>T (p.Thr2503=)
c.7569C>T (p.Thr2523=)
 ClinVar dbSNP
17g.31352342A=CA2255610071NF1c.7525A= (p.Ser2509=)
c.2107A= (p.Ser703=)
c.1699A= (p.Ser567=)
n.4188A=
c.593A=
c.7573A= (p.Ser2525=)
c.7543A= (p.Ser2515=)
c.7480A= (p.Ser2494=)
c.6478A= (p.Ser2160=)
c.926A=
c.7679A= (n.7679A=)
c.600+2024A=
c.7534A= (p.Ser2512=)
c.7510A= (p.Ser2504=)
c.7570A= (p.Ser2524=)
17g.31352342A>CCA399017637NF1c.7525A>C (p.Ser2509Arg)
c.2107A>C (p.Ser703Arg)
c.1699A>C (p.Ser567Arg)
n.4188A>C
c.593A>C
c.7573A>C (p.Ser2525Arg)
c.7543A>C (p.Ser2515Arg)
c.7480A>C (p.Ser2494Arg)
c.6478A>C (p.Ser2160Arg)
c.926A>C
c.7679A>C (n.7679A>C)
c.600+2024A>C
c.7534A>C (p.Ser2512Arg)
c.7510A>C (p.Ser2504Arg)
c.7570A>C (p.Ser2524Arg)
 ClinVar
17g.31352342A>GCA399017638NF1c.7525A>G (p.Ser2509Gly)
c.2107A>G (p.Ser703Gly)
c.1699A>G (p.Ser567Gly)
n.4188A>G
c.593A>G
c.7573A>G (p.Ser2525Gly)
c.7543A>G (p.Ser2515Gly)
c.7480A>G (p.Ser2494Gly)
c.6478A>G (p.Ser2160Gly)
c.926A>G
c.7679A>G (n.7679A>G)
c.600+2024A>G
c.7534A>G (p.Ser2512Gly)
c.7510A>G (p.Ser2504Gly)
c.7570A>G (p.Ser2524Gly)
 ClinVar dbSNP
17g.31352342A>TCA399017640NF1c.7525A>T (p.Ser2509Cys)
c.2107A>T (p.Ser703Cys)
c.1699A>T (p.Ser567Cys)
n.4188A>T
c.593A>T
c.7573A>T (p.Ser2525Cys)
c.7543A>T (p.Ser2515Cys)
c.7480A>T (p.Ser2494Cys)
c.6478A>T (p.Ser2160Cys)
c.926A>T
c.7679A>T (n.7679A>T)
c.600+2024A>T
c.7534A>T (p.Ser2512Cys)
c.7510A>T (p.Ser2504Cys)
c.7570A>T (p.Ser2524Cys)
 dbSNP
17g.31352342_31352343delinsAGCA2255610069NF1c.7525_7526delinsAG (p.Ser2509=)
c.2107_2108delinsAG (p.Ser703=)
c.1699_1700delinsAG (p.Ser567=)
n.4188_4189delinsAG
c.593_594delinsAG
c.7573_7574delinsAG (p.Ser2525=)
c.7543_7544delinsAG (p.Ser2515=)
c.7480_7481delinsAG (p.Ser2494=)
c.6478_6479delinsAG (p.Ser2160=)
c.926_927delinsAG
c.7679_7680delinsAG (n.7679_7680delinsAG)
c.600+2024_600+2025delinsAG
c.7534_7535delinsAG (p.Ser2512=)
c.7510_7511delinsAG (p.Ser2504=)
c.7570_7571delinsAG (p.Ser2524=)
17g.31352343delCA2255610074NF1c.7526del (p.Ser2509IlefsTer8)
c.2108del (p.Ser703IlefsTer8)
c.1700del (p.Ser567IlefsTer8)
n.4189del
c.594del
c.7574del (p.Ser2525IlefsTer8)
c.7544del (p.Ser2515IlefsTer8)
c.7481del (p.Ser2494IlefsTer8)
c.6479del (p.Ser2160IlefsTer8)
c.927del
c.7680del (n.7680del)
c.600+2025del
c.7535del (p.Ser2512IlefsTer8)
c.7511del (p.Ser2504IlefsTer8)
c.7571del (p.Ser2524IlefsTer8)
 ClinVar dbSNP
17g.31352343G>ACA399017644NF1c.7526G>A (p.Ser2509Asn)
c.2108G>A (p.Ser703Asn)
c.1700G>A (p.Ser567Asn)
n.4189G>A
c.594G>A
c.7574G>A (p.Ser2525Asn)
c.7544G>A (p.Ser2515Asn)
c.7481G>A (p.Ser2494Asn)
c.6479G>A (p.Ser2160Asn)
c.927G>A
c.7680G>A (n.7680G>A)
c.600+2025G>A
c.7535G>A (p.Ser2512Asn)
c.7511G>A (p.Ser2504Asn)
c.7571G>A (p.Ser2524Asn)
 dbSNP
17g.31352343G>CCA399017645NF1c.7526G>C (p.Ser2509Thr)
c.2108G>C (p.Ser703Thr)
c.1700G>C (p.Ser567Thr)
n.4189G>C
c.594G>C
c.7574G>C (p.Ser2525Thr)
c.7544G>C (p.Ser2515Thr)
c.7481G>C (p.Ser2494Thr)
c.6479G>C (p.Ser2160Thr)
c.927G>C
c.7680G>C (n.7680G>C)
c.600+2025G>C
c.7535G>C (p.Ser2512Thr)
c.7511G>C (p.Ser2504Thr)
c.7571G>C (p.Ser2524Thr)
 dbSNP
17g.31352343G=CA2255610076NF1c.7526G= (p.Ser2509=)
c.2108G= (p.Ser703=)
c.1700G= (p.Ser567=)
n.4189G=
c.594G=
c.7574G= (p.Ser2525=)
c.7544G= (p.Ser2515=)
c.7481G= (p.Ser2494=)
c.6479G= (p.Ser2160=)
c.927G=
c.7680G= (n.7680G=)
c.600+2025G=
c.7535G= (p.Ser2512=)
c.7511G= (p.Ser2504=)
c.7571G= (p.Ser2524=)
17g.31352343G>TCA399017642NF1c.7526G>T (p.Ser2509Ile)
c.2108G>T (p.Ser703Ile)
c.1700G>T (p.Ser567Ile)
n.4189G>T
c.594G>T
c.7574G>T (p.Ser2525Ile)
c.7544G>T (p.Ser2515Ile)
c.7481G>T (p.Ser2494Ile)
c.6479G>T (p.Ser2160Ile)
c.927G>T
c.7680G>T (n.7680G>T)
c.600+2025G>T
c.7535G>T (p.Ser2512Ile)
c.7511G>T (p.Ser2504Ile)
c.7571G>T (p.Ser2524Ile)
 ClinVar dbSNP
17g.31352344T>ACA399017646NF1c.7527T>A (p.Ser2509Arg)
c.2109T>A (p.Ser703Arg)
c.1701T>A (p.Ser567Arg)
n.4190T>A
c.595T>A
c.7575T>A (p.Ser2525Arg)
c.7545T>A (p.Ser2515Arg)
c.7482T>A (p.Ser2494Arg)
c.6480T>A (p.Ser2160Arg)
c.928T>A
c.7681T>A (n.7681T>A)
c.600+2026T>A
c.7536T>A (p.Ser2512Arg)
c.7512T>A (p.Ser2504Arg)
c.7572T>A (p.Ser2524Arg)
17g.31352344T>CCA499239286NF1c.7527T>C (p.Ser2509=)
c.2109T>C (p.Ser703=)
c.1701T>C (p.Ser567=)
n.4190T>C
c.595T>C
c.7575T>C (p.Ser2525=)
c.7545T>C (p.Ser2515=)
c.7482T>C (p.Ser2494=)
c.6480T>C (p.Ser2160=)
c.928T>C
c.7681T>C (n.7681T>C)
c.600+2026T>C
c.7536T>C (p.Ser2512=)
c.7512T>C (p.Ser2504=)
c.7572T>C (p.Ser2524=)
17g.31352344T>GCA399017648NF1c.7527T>G (p.Ser2509Arg)
c.2109T>G (p.Ser703Arg)
c.1701T>G (p.Ser567Arg)
n.4190T>G
c.595T>G
c.7575T>G (p.Ser2525Arg)
c.7545T>G (p.Ser2515Arg)
c.7482T>G (p.Ser2494Arg)
c.6480T>G (p.Ser2160Arg)
c.928T>G
c.7681T>G (n.7681T>G)
c.600+2026T>G
c.7536T>G (p.Ser2512Arg)
c.7512T>G (p.Ser2504Arg)
c.7572T>G (p.Ser2524Arg)
17g.31352345C>ACA399017649NF1c.7528C>A (p.Pro2510Thr)
c.2110C>A (p.Pro704Thr)
c.1702C>A (p.Pro568Thr)
n.4191C>A
c.596C>A
c.7576C>A (p.Pro2526Thr)
c.7546C>A (p.Pro2516Thr)
c.7483C>A (p.Pro2495Thr)
c.6481C>A (p.Pro2161Thr)
c.929C>A
c.7682C>A (n.7682C>A)
c.600+2027C>A
c.7537C>A (p.Pro2513Thr)
c.7513C>A (p.Pro2505Thr)
c.7573C>A (p.Pro2525Thr)
 dbSNP
17g.31352345C=CA2255610079NF1c.7528C= (p.Pro2510=)
c.2110C= (p.Pro704=)
c.1702C= (p.Pro568=)
n.4191C=
c.596C=
c.7576C= (p.Pro2526=)
c.7546C= (p.Pro2516=)
c.7483C= (p.Pro2495=)
c.6481C= (p.Pro2161=)
c.929C=
c.7682C= (n.7682C=)
c.600+2027C=
c.7537C= (p.Pro2513=)
c.7513C= (p.Pro2505=)
c.7573C= (p.Pro2525=)
17g.31352345C>GCA399017651NF1c.7528C>G (p.Pro2510Ala)
c.2110C>G (p.Pro704Ala)
c.1702C>G (p.Pro568Ala)
n.4191C>G
c.596C>G
c.7576C>G (p.Pro2526Ala)
c.7546C>G (p.Pro2516Ala)
c.7483C>G (p.Pro2495Ala)
c.6481C>G (p.Pro2161Ala)
c.929C>G
c.7682C>G (n.7682C>G)
c.600+2027C>G
c.7537C>G (p.Pro2513Ala)
c.7513C>G (p.Pro2505Ala)
c.7573C>G (p.Pro2525Ala)
 dbSNP
17g.31352345C>TCA8487607NF1c.7528C>T (p.Pro2510Ser)
c.2110C>T (p.Pro704Ser)
c.1702C>T (p.Pro568Ser)
n.4191C>T
c.596C>T
c.7576C>T (p.Pro2526Ser)
c.7546C>T (p.Pro2516Ser)
c.7483C>T (p.Pro2495Ser)
c.6481C>T (p.Pro2161Ser)
c.929C>T
c.7682C>T (n.7682C>T)
c.600+2027C>T
c.7537C>T (p.Pro2513Ser)
c.7513C>T (p.Pro2505Ser)
c.7573C>T (p.Pro2525Ser)
 ClinVar dbSNP ExAC gnomAD v2
17g.31352346C>ACA399017653NF1c.7529C>A (p.Pro2510His)
c.2111C>A (p.Pro704His)
c.1703C>A (p.Pro568His)
n.4192C>A
c.597C>A
c.7577C>A (p.Pro2526His)
c.7547C>A (p.Pro2516His)
c.7484C>A (p.Pro2495His)
c.6482C>A (p.Pro2161His)
c.930C>A
c.7683C>A (n.7683C>A)
c.600+2028C>A
c.7538C>A (p.Pro2513His)
c.7514C>A (p.Pro2505His)
c.7574C>A (p.Pro2525His)
 ClinVar dbSNP
17g.31352346C>GCA399017654NF1c.7529C>G (p.Pro2510Arg)
c.2111C>G (p.Pro704Arg)
c.1703C>G (p.Pro568Arg)
n.4192C>G
c.597C>G
c.7577C>G (p.Pro2526Arg)
c.7547C>G (p.Pro2516Arg)
c.7484C>G (p.Pro2495Arg)
c.6482C>G (p.Pro2161Arg)
c.930C>G
c.7683C>G (n.7683C>G)
c.600+2028C>G
c.7538C>G (p.Pro2513Arg)
c.7514C>G (p.Pro2505Arg)
c.7574C>G (p.Pro2525Arg)
 dbSNP
17g.31352346C>TCA399017656NF1c.7529C>T (p.Pro2510Leu)
c.2111C>T (p.Pro704Leu)
c.1703C>T (p.Pro568Leu)
n.4192C>T
c.597C>T
c.7577C>T (p.Pro2526Leu)
c.7547C>T (p.Pro2516Leu)
c.7484C>T (p.Pro2495Leu)
c.6482C>T (p.Pro2161Leu)
c.930C>T
c.7683C>T (n.7683C>T)
c.600+2028C>T
c.7538C>T (p.Pro2513Leu)
c.7514C>T (p.Pro2505Leu)
c.7574C>T (p.Pro2525Leu)
 dbSNP
17g.31352347C>ACA499239287NF1c.7530C>A (p.Pro2510=)
c.2112C>A (p.Pro704=)
c.1704C>A (p.Pro568=)
n.4193C>A
c.598C>A
c.7578C>A (p.Pro2526=)
c.7548C>A (p.Pro2516=)
c.7485C>A (p.Pro2495=)
c.6483C>A (p.Pro2161=)
c.931C>A
c.7684C>A (n.7684C>A)
c.600+2029C>A
c.7539C>A (p.Pro2513=)
c.7515C>A (p.Pro2505=)
c.7575C>A (p.Pro2525=)
 dbSNP
17g.31352347C>GCA499239288NF1c.7530C>G (p.Pro2510=)
c.2112C>G (p.Pro704=)
c.1704C>G (p.Pro568=)
n.4193C>G
c.598C>G
c.7578C>G (p.Pro2526=)
c.7548C>G (p.Pro2516=)
c.7485C>G (p.Pro2495=)
c.6483C>G (p.Pro2161=)
c.931C>G
c.7684C>G (n.7684C>G)
c.600+2029C>G
c.7539C>G (p.Pro2513=)
c.7515C>G (p.Pro2505=)
c.7575C>G (p.Pro2525=)
 dbSNP
17g.31352347C>TCA499239289NF1c.7530C>T (p.Pro2510=)
c.2112C>T (p.Pro704=)
c.1704C>T (p.Pro568=)
n.4193C>T
c.598C>T
c.7578C>T (p.Pro2526=)
c.7548C>T (p.Pro2516=)
c.7485C>T (p.Pro2495=)
c.6483C>T (p.Pro2161=)
c.931C>T
c.7684C>T (n.7684C>T)
c.600+2029C>T
c.7539C>T (p.Pro2513=)
c.7515C>T (p.Pro2505=)
c.7575C>T (p.Pro2525=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
17g.31352348C>ACA499239290NF1c.7531C>A (p.Arg2511=)
c.2113C>A (p.Arg705=)
c.1705C>A (p.Arg569=)
n.4194C>A
c.599C>A
c.7579C>A (p.Arg2527=)
c.7549C>A (p.Arg2517=)
c.7486C>A (p.Arg2496=)
c.6484C>A (p.Arg2162=)
c.932C>A
c.7685C>A (n.7685C>A)
c.600+2030C>A
c.7540C>A (p.Arg2514=)
c.7516C>A (p.Arg2506=)
c.7576C>A (p.Arg2526=)
 dbSNP
17g.31352348C=CA2255610084NF1c.7531C= (p.Arg2511=)
c.2113C= (p.Arg705=)
c.1705C= (p.Arg569=)
n.4194C=
c.599C=
c.7579C= (p.Arg2527=)
c.7549C= (p.Arg2517=)
c.7486C= (p.Arg2496=)
c.6484C= (p.Arg2162=)
c.932C=
c.7685C= (n.7685C=)
c.600+2030C=
c.7540C= (p.Arg2514=)
c.7516C= (p.Arg2506=)
c.7576C= (p.Arg2526=)
17g.31352348C>GCA399017658NF1c.7531C>G (p.Arg2511Gly)
c.2113C>G (p.Arg705Gly)
c.1705C>G (p.Arg569Gly)
n.4194C>G
c.599C>G
c.7579C>G (p.Arg2527Gly)
c.7549C>G (p.Arg2517Gly)
c.7486C>G (p.Arg2496Gly)
c.6484C>G (p.Arg2162Gly)
c.932C>G
c.7685C>G (n.7685C>G)
c.600+2030C>G
c.7540C>G (p.Arg2514Gly)
c.7516C>G (p.Arg2506Gly)
c.7576C>G (p.Arg2526Gly)
 dbSNP gnomAD v4
17g.31352348C>TCA10580413NF1c.7531C>T (p.Arg2511Ter)
c.2113C>T (p.Arg705Ter)
c.1705C>T (p.Arg569Ter)
n.4194C>T
c.599C>T
c.7579C>T (p.Arg2527Ter)
c.7549C>T (p.Arg2517Ter)
c.7486C>T (p.Arg2496Ter)
c.6484C>T (p.Arg2162Ter)
c.932C>T
c.7685C>T (n.7685C>T)
c.600+2030C>T
c.7540C>T (p.Arg2514Ter)
c.7516C>T (p.Arg2506Ter)
c.7576C>T (p.Arg2526Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.31352349G>ACA8487609NF1c.7532G>A (p.Arg2511Gln)
c.2114G>A (p.Arg705Gln)
c.1706G>A (p.Arg569Gln)
n.4195G>A
c.600G>A
c.7580G>A (p.Arg2527Gln)
c.7550G>A (p.Arg2517Gln)
c.7487G>A (p.Arg2496Gln)
c.6485G>A (p.Arg2162Gln)
c.933G>A
c.7686G>A (n.7686G>A)
c.600+2031G>A
c.7541G>A (p.Arg2514Gln)
c.7517G>A (p.Arg2506Gln)
c.7577G>A (p.Arg2526Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352349G>CCA8487608NF1c.7532G>C (p.Arg2511Pro)
c.2114G>C (p.Arg705Pro)
c.1706G>C (p.Arg569Pro)
n.4195G>C
c.600G>C
c.7580G>C (p.Arg2527Pro)
c.7550G>C (p.Arg2517Pro)
c.7487G>C (p.Arg2496Pro)
c.6485G>C (p.Arg2162Pro)
c.933G>C
c.7686G>C (n.7686G>C)
c.600+2031G>C
c.7541G>C (p.Arg2514Pro)
c.7517G>C (p.Arg2506Pro)
c.7577G>C (p.Arg2526Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352349G=CA2255610090NF1c.7532G= (p.Arg2511=)
c.2114G= (p.Arg705=)
c.1706G= (p.Arg569=)
n.4195G=
c.600G=
c.7580G= (p.Arg2527=)
c.7550G= (p.Arg2517=)
c.7487G= (p.Arg2496=)
c.6485G= (p.Arg2162=)
c.933G=
c.7686G= (n.7686G=)
c.600+2031G=
c.7541G= (p.Arg2514=)
c.7517G= (p.Arg2506=)
c.7577G= (p.Arg2526=)
17g.31352349G>TCA399017661NF1c.7532G>T (p.Arg2511Leu)
c.2114G>T (p.Arg705Leu)
c.1706G>T (p.Arg569Leu)
n.4195G>T
c.600G>T
c.7580G>T (p.Arg2527Leu)
c.7550G>T (p.Arg2517Leu)
c.7487G>T (p.Arg2496Leu)
c.6485G>T (p.Arg2162Leu)
c.933G>T
c.7686G>T (n.7686G>T)
c.600+2031G>T
c.7541G>T (p.Arg2514Leu)
c.7517G>T (p.Arg2506Leu)
c.7577G>T (p.Arg2526Leu)
 dbSNP
17g.31352349_31352350insGGCA2695225512NF1c.7532_7533insGG (p.Ala2512GlufsTer6)
c.2114_2115insGG (p.Ala706GlufsTer6)
c.1706_1707insGG (p.Ala570GlufsTer6)
n.4195_4196insGG
c.600_601insGG
c.7580_7581insGG (p.Ala2528GlufsTer6)
c.7550_7551insGG (p.Ala2518GlufsTer6)
c.7487_7488insGG (p.Ala2497GlufsTer6)
c.6485_6486insGG (p.Ala2163GlufsTer6)
c.933_934insGG
c.7686_7687insGG (n.7686_7687insGG)
c.600+2031_600+2032insGG
c.7541_7542insGG (p.Ala2515GlufsTer6)
c.7517_7518insGG (p.Ala2507GlufsTer6)
c.7577_7578insGG (p.Ala2527GlufsTer6)
17g.31352350A>CCA499239291NF1c.7533A>C (p.Arg2511=)
c.2115A>C (p.Arg705=)
c.1707A>C (p.Arg569=)
n.4196A>C
c.601A>C
c.7581A>C (p.Arg2527=)
c.7551A>C (p.Arg2517=)
c.7488A>C (p.Arg2496=)
c.6486A>C (p.Arg2162=)
c.934A>C
c.7687A>C (n.7687A>C)
c.600+2032A>C
c.7542A>C (p.Arg2514=)
c.7518A>C (p.Arg2506=)
c.7578A>C (p.Arg2526=)
17g.31352350A>GCA499239292NF1c.7533A>G (p.Arg2511=)
c.2115A>G (p.Arg705=)
c.1707A>G (p.Arg569=)
n.4196A>G
c.601A>G
c.7581A>G (p.Arg2527=)
c.7551A>G (p.Arg2517=)
c.7488A>G (p.Arg2496=)
c.6486A>G (p.Arg2162=)
c.934A>G
c.7687A>G (n.7687A>G)
c.600+2032A>G
c.7542A>G (p.Arg2514=)
c.7518A>G (p.Arg2506=)
c.7578A>G (p.Arg2526=)
17g.31352350A>TCA499239293NF1c.7533A>T (p.Arg2511=)
c.2115A>T (p.Arg705=)
c.1707A>T (p.Arg569=)
n.4196A>T
c.601A>T
c.7581A>T (p.Arg2527=)
c.7551A>T (p.Arg2517=)
c.7488A>T (p.Arg2496=)
c.6486A>T (p.Arg2162=)
c.934A>T
c.7687A>T (n.7687A>T)
c.600+2032A>T
c.7542A>T (p.Arg2514=)
c.7518A>T (p.Arg2506=)
c.7578A>T (p.Arg2526=)
 dbSNP
17g.31352351G>ACA399017667NF1c.7534G>A (p.Ala2512Thr)
c.2116G>A (p.Ala706Thr)
c.1708G>A (p.Ala570Thr)
n.4197G>A
c.602G>A
c.7582G>A (p.Ala2528Thr)
c.7552G>A (p.Ala2518Thr)
c.7489G>A (p.Ala2497Thr)
c.6487G>A (p.Ala2163Thr)
c.935G>A
c.7688G>A (n.7688G>A)
c.600+2033G>A
c.7543G>A (p.Ala2515Thr)
c.7519G>A (p.Ala2507Thr)
c.7579G>A (p.Ala2527Thr)
 ClinVar dbSNP gnomAD v4
17g.31352351G>CCA399017663NF1c.7534G>C (p.Ala2512Pro)
c.2116G>C (p.Ala706Pro)
c.1708G>C (p.Ala570Pro)
n.4197G>C
c.602G>C
c.7582G>C (p.Ala2528Pro)
c.7552G>C (p.Ala2518Pro)
c.7489G>C (p.Ala2497Pro)
c.6487G>C (p.Ala2163Pro)
c.935G>C
c.7688G>C (n.7688G>C)
c.600+2033G>C
c.7543G>C (p.Ala2515Pro)
c.7519G>C (p.Ala2507Pro)
c.7579G>C (p.Ala2527Pro)
17g.31352351G=CA2255610094NF1c.7534G= (p.Ala2512=)
c.2116G= (p.Ala706=)
c.1708G= (p.Ala570=)
n.4197G=
c.602G=
c.7582G= (p.Ala2528=)
c.7552G= (p.Ala2518=)
c.7489G= (p.Ala2497=)
c.6487G= (p.Ala2163=)
c.935G=
c.7688G= (n.7688G=)
c.600+2033G=
c.7543G= (p.Ala2515=)
c.7519G= (p.Ala2507=)
c.7579G= (p.Ala2527=)
17g.31352351G>TCA399017665NF1c.7534G>T (p.Ala2512Ser)
c.2116G>T (p.Ala706Ser)
c.1708G>T (p.Ala570Ser)
n.4197G>T
c.602G>T
c.7582G>T (p.Ala2528Ser)
c.7552G>T (p.Ala2518Ser)
c.7489G>T (p.Ala2497Ser)
c.6487G>T (p.Ala2163Ser)
c.935G>T
c.7688G>T (n.7688G>T)
c.600+2033G>T
c.7543G>T (p.Ala2515Ser)
c.7519G>T (p.Ala2507Ser)
c.7579G>T (p.Ala2527Ser)
17g.31352352C>ACA16615295NF1c.7535C>A (p.Ala2512Asp)
c.2117C>A (p.Ala706Asp)
c.1709C>A (p.Ala570Asp)
n.4198C>A
c.603C>A
c.7583C>A (p.Ala2528Asp)
c.7553C>A (p.Ala2518Asp)
c.7490C>A (p.Ala2497Asp)
c.6488C>A (p.Ala2163Asp)
c.936C>A
c.7689C>A (n.7689C>A)
c.600+2034C>A
c.7544C>A (p.Ala2515Asp)
c.7520C>A (p.Ala2507Asp)
c.7580C>A (p.Ala2527Asp)
 ClinVar dbSNP
17g.31352352C=CA2255610099NF1c.7535C= (p.Ala2512=)
c.2117C= (p.Ala706=)
c.1709C= (p.Ala570=)
n.4198C=
c.603C=
c.7583C= (p.Ala2528=)
c.7553C= (p.Ala2518=)
c.7490C= (p.Ala2497=)
c.6488C= (p.Ala2163=)
c.936C=
c.7689C= (n.7689C=)
c.600+2034C=
c.7544C= (p.Ala2515=)
c.7520C= (p.Ala2507=)
c.7580C= (p.Ala2527=)
17g.31352352C>GCA399017668NF1c.7535C>G (p.Ala2512Gly)
c.2117C>G (p.Ala706Gly)
c.1709C>G (p.Ala570Gly)
n.4198C>G
c.603C>G
c.7583C>G (p.Ala2528Gly)
c.7553C>G (p.Ala2518Gly)
c.7490C>G (p.Ala2497Gly)
c.6488C>G (p.Ala2163Gly)
c.936C>G
c.7689C>G (n.7689C>G)
c.600+2034C>G
c.7544C>G (p.Ala2515Gly)
c.7520C>G (p.Ala2507Gly)
c.7580C>G (p.Ala2527Gly)
 dbSNP
17g.31352352C>TCA399017670NF1c.7535C>T (p.Ala2512Val)
c.2117C>T (p.Ala706Val)
c.1709C>T (p.Ala570Val)
n.4198C>T
c.603C>T
c.7583C>T (p.Ala2528Val)
c.7553C>T (p.Ala2518Val)
c.7490C>T (p.Ala2497Val)
c.6488C>T (p.Ala2163Val)
c.936C>T
c.7689C>T (n.7689C>T)
c.600+2034C>T
c.7544C>T (p.Ala2515Val)
c.7520C>T (p.Ala2507Val)
c.7580C>T (p.Ala2527Val)
 dbSNP
17g.31352353delCA2580093419NF1c.7536del (p.Arg2513GlyfsTer4)
c.2118del (p.Arg707GlyfsTer4)
c.1710del (p.Arg571GlyfsTer4)
n.4199del
c.604del
c.7584del (p.Arg2529GlyfsTer4)
c.7554del (p.Arg2519GlyfsTer4)
c.7491del (p.Arg2498GlyfsTer4)
c.6489del (p.Arg2164GlyfsTer4)
c.937del
c.7690del (n.7690del)
c.600+2035del
c.7545del (p.Arg2516GlyfsTer4)
c.7521del (p.Arg2508GlyfsTer4)
c.7581del (p.Arg2528GlyfsTer4)
 ClinVar
17g.31352353C>ACA499239294NF1c.7536C>A (p.Ala2512=)
c.2118C>A (p.Ala706=)
c.1710C>A (p.Ala570=)
n.4199C>A
c.604C>A
c.7584C>A (p.Ala2528=)
c.7554C>A (p.Ala2518=)
c.7491C>A (p.Ala2497=)
c.6489C>A (p.Ala2163=)
c.937C>A
c.7690C>A (n.7690C>A)
c.600+2035C>A
c.7545C>A (p.Ala2515=)
c.7521C>A (p.Ala2507=)
c.7581C>A (p.Ala2527=)
 ClinVar dbSNP
17g.31352353C=CA2255610104NF1c.7536C= (p.Ala2512=)
c.2118C= (p.Ala706=)
c.1710C= (p.Ala570=)
n.4199C=
c.604C=
c.7584C= (p.Ala2528=)
c.7554C= (p.Ala2518=)
c.7491C= (p.Ala2497=)
c.6489C= (p.Ala2163=)
c.937C=
c.7690C= (n.7690C=)
c.600+2035C=
c.7545C= (p.Ala2515=)
c.7521C= (p.Ala2507=)
c.7581C= (p.Ala2527=)
17g.31352353C>GCA188635NF1c.7536C>G (p.Ala2512=)
c.2118C>G (p.Ala706=)
c.1710C>G (p.Ala570=)
n.4199C>G
c.604C>G
c.7584C>G (p.Ala2528=)
c.7554C>G (p.Ala2518=)
c.7491C>G (p.Ala2497=)
c.6489C>G (p.Ala2163=)
c.937C>G
c.7690C>G (n.7690C>G)
c.600+2035C>G
c.7545C>G (p.Ala2515=)
c.7521C>G (p.Ala2507=)
c.7581C>G (p.Ala2527=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352353C>TCA499239295NF1c.7536C>T (p.Ala2512=)
c.2118C>T (p.Ala706=)
c.1710C>T (p.Ala570=)
n.4199C>T
c.604C>T
c.7584C>T (p.Ala2528=)
c.7554C>T (p.Ala2518=)
c.7491C>T (p.Ala2497=)
c.6489C>T (p.Ala2163=)
c.937C>T
c.7690C>T (n.7690C>T)
c.600+2035C>T
c.7545C>T (p.Ala2515=)
c.7521C>T (p.Ala2507=)
c.7581C>T (p.Ala2527=)
 dbSNP
17g.31352354A>CCA499239296NF1c.7537A>C (p.Arg2513=)
c.2119A>C (p.Arg707=)
c.1711A>C (p.Arg571=)
n.4200A>C
c.605A>C
c.7585A>C (p.Arg2529=)
c.7555A>C (p.Arg2519=)
c.7492A>C (p.Arg2498=)
c.6490A>C (p.Arg2164=)
c.938A>C
c.7691A>C (n.7691A>C)
c.600+2036A>C
c.7546A>C (p.Arg2516=)
c.7522A>C (p.Arg2508=)
c.7582A>C (p.Arg2528=)
17g.31352354A>GCA399017672NF1c.7537A>G (p.Arg2513Gly)
c.2119A>G (p.Arg707Gly)
c.1711A>G (p.Arg571Gly)
n.4200A>G
c.605A>G
c.7585A>G (p.Arg2529Gly)
c.7555A>G (p.Arg2519Gly)
c.7492A>G (p.Arg2498Gly)
c.6490A>G (p.Arg2164Gly)
c.938A>G
c.7691A>G (n.7691A>G)
c.600+2036A>G
c.7546A>G (p.Arg2516Gly)
c.7522A>G (p.Arg2508Gly)
c.7582A>G (p.Arg2528Gly)
17g.31352354A>TCA399017674NF1c.7537A>T (p.Arg2513Trp)
c.2119A>T (p.Arg707Trp)
c.1711A>T (p.Arg571Trp)
n.4200A>T
c.605A>T
c.7585A>T (p.Arg2529Trp)
c.7555A>T (p.Arg2519Trp)
c.7492A>T (p.Arg2498Trp)
c.6490A>T (p.Arg2164Trp)
c.938A>T
c.7691A>T (n.7691A>T)
c.600+2036A>T
c.7546A>T (p.Arg2516Trp)
c.7522A>T (p.Arg2508Trp)
c.7582A>T (p.Arg2528Trp)
17g.31352355G>ACA399017676NF1c.7538G>A (p.Arg2513Lys)
c.2120G>A (p.Arg707Lys)
c.1712G>A (p.Arg571Lys)
n.4201G>A
c.606G>A
c.7586G>A (p.Arg2529Lys)
c.7556G>A (p.Arg2519Lys)
c.7493G>A (p.Arg2498Lys)
c.6491G>A (p.Arg2164Lys)
c.939G>A
c.7692G>A (n.7692G>A)
c.600+2037G>A
c.7547G>A (p.Arg2516Lys)
c.7523G>A (p.Arg2508Lys)
c.7583G>A (p.Arg2528Lys)
 dbSNP
17g.31352355G>CCA399017677NF1c.7538G>C (p.Arg2513Thr)
c.2120G>C (p.Arg707Thr)
c.1712G>C (p.Arg571Thr)
n.4201G>C
c.606G>C
c.7586G>C (p.Arg2529Thr)
c.7556G>C (p.Arg2519Thr)
c.7493G>C (p.Arg2498Thr)
c.6491G>C (p.Arg2164Thr)
c.939G>C
c.7692G>C (n.7692G>C)
c.600+2037G>C
c.7547G>C (p.Arg2516Thr)
c.7523G>C (p.Arg2508Thr)
c.7583G>C (p.Arg2528Thr)
 dbSNP
17g.31352355G>TCA399017680NF1c.7538G>T (p.Arg2513Met)
c.2120G>T (p.Arg707Met)
c.1712G>T (p.Arg571Met)
n.4201G>T
c.606G>T
c.7586G>T (p.Arg2529Met)
c.7556G>T (p.Arg2519Met)
c.7493G>T (p.Arg2498Met)
c.6491G>T (p.Arg2164Met)
c.939G>T
c.7692G>T (n.7692G>T)
c.600+2037G>T
c.7547G>T (p.Arg2516Met)
c.7523G>T (p.Arg2508Met)
c.7583G>T (p.Arg2528Met)
17g.31352356G>ACA499239297NF1c.7539G>A (p.Arg2513=)
c.2121G>A (p.Arg707=)
c.1713G>A (p.Arg571=)
n.4202G>A
c.607G>A
c.7587G>A (p.Arg2529=)
c.7557G>A (p.Arg2519=)
c.7494G>A (p.Arg2498=)
c.6492G>A (p.Arg2164=)
c.940G>A
c.7693G>A (n.7693G>A)
c.600+2038G>A
c.7548G>A (p.Arg2516=)
c.7524G>A (p.Arg2508=)
c.7584G>A (p.Arg2528=)
 ClinVar dbSNP
17g.31352356G>CCA399017682NF1c.7539G>C (p.Arg2513Ser)
c.2121G>C (p.Arg707Ser)
c.1713G>C (p.Arg571Ser)
n.4202G>C
c.607G>C
c.7587G>C (p.Arg2529Ser)
c.7557G>C (p.Arg2519Ser)
c.7494G>C (p.Arg2498Ser)
c.6492G>C (p.Arg2164Ser)
c.940G>C
c.7693G>C (n.7693G>C)
c.600+2038G>C
c.7548G>C (p.Arg2516Ser)
c.7524G>C (p.Arg2508Ser)
c.7584G>C (p.Arg2528Ser)
 dbSNP
17g.31352356G>TCA399017684NF1c.7539G>T (p.Arg2513Ser)
c.2121G>T (p.Arg707Ser)
c.1713G>T (p.Arg571Ser)
n.4202G>T
c.607G>T
c.7587G>T (p.Arg2529Ser)
c.7557G>T (p.Arg2519Ser)
c.7494G>T (p.Arg2498Ser)
c.6492G>T (p.Arg2164Ser)
c.940G>T
c.7693G>T (n.7693G>T)
c.600+2038G>T
c.7548G>T (p.Arg2516Ser)
c.7524G>T (p.Arg2508Ser)
c.7584G>T (p.Arg2528Ser)
17g.31352357A>CCA399017685NF1c.7540A>C (p.Lys2514Gln)
c.2122A>C (p.Lys708Gln)
c.1714A>C (p.Lys572Gln)
n.4203A>C
c.608A>C
c.7588A>C (p.Lys2530Gln)
c.7558A>C (p.Lys2520Gln)
c.7495A>C (p.Lys2499Gln)
c.6493A>C (p.Lys2165Gln)
c.941A>C
c.7694A>C (n.7694A>C)
c.600+2039A>C
c.7549A>C (p.Lys2517Gln)
c.7525A>C (p.Lys2509Gln)
c.7585A>C (p.Lys2529Gln)
17g.31352357A>GCA399017687NF1c.7540A>G (p.Lys2514Glu)
c.2122A>G (p.Lys708Glu)
c.1714A>G (p.Lys572Glu)
n.4203A>G
c.608A>G
c.7588A>G (p.Lys2530Glu)
c.7558A>G (p.Lys2520Glu)
c.7495A>G (p.Lys2499Glu)
c.6493A>G (p.Lys2165Glu)
c.941A>G
c.7694A>G (n.7694A>G)
c.600+2039A>G
c.7549A>G (p.Lys2517Glu)
c.7525A>G (p.Lys2509Glu)
c.7585A>G (p.Lys2529Glu)
17g.31352357A>TCA399017686NF1c.7540A>T (p.Lys2514Ter)
c.2122A>T (p.Lys708Ter)
c.1714A>T (p.Lys572Ter)
n.4203A>T
c.608A>T
c.7588A>T (p.Lys2530Ter)
c.7558A>T (p.Lys2520Ter)
c.7495A>T (p.Lys2499Ter)
c.6493A>T (p.Lys2165Ter)
c.941A>T
c.7694A>T (n.7694A>T)
c.600+2039A>T
c.7549A>T (p.Lys2517Ter)
c.7525A>T (p.Lys2509Ter)
c.7585A>T (p.Lys2529Ter)
17g.31352359delCA2573153851NF1c.7542del (p.Lys2514AsnfsTer3)
c.2124del (p.Lys708AsnfsTer3)
c.1716del (p.Lys572AsnfsTer3)
n.4205del
c.610del
c.7590del (p.Lys2530AsnfsTer3)
c.7560del (p.Lys2520AsnfsTer3)
c.7497del (p.Lys2499AsnfsTer3)
c.6495del (p.Lys2165AsnfsTer3)
c.943del
c.7696del (n.7696del)
c.600+2041del
c.7551del (p.Lys2517AsnfsTer3)
c.7527del (p.Lys2509AsnfsTer3)
c.7587del (p.Lys2529AsnfsTer3)
 dbSNP
17g.31352358A>CCA399017689NF1c.7541A>C (p.Lys2514Thr)
c.2123A>C (p.Lys708Thr)
c.1715A>C (p.Lys572Thr)
n.4204A>C
c.609A>C
c.7589A>C (p.Lys2530Thr)
c.7559A>C (p.Lys2520Thr)
c.7496A>C (p.Lys2499Thr)
c.6494A>C (p.Lys2165Thr)
c.942A>C
c.7695A>C (n.7695A>C)
c.600+2040A>C
c.7550A>C (p.Lys2517Thr)
c.7526A>C (p.Lys2509Thr)
c.7586A>C (p.Lys2529Thr)
17g.31352358A>GCA399017693NF1c.7541A>G (p.Lys2514Arg)
c.2123A>G (p.Lys708Arg)
c.1715A>G (p.Lys572Arg)
n.4204A>G
c.609A>G
c.7589A>G (p.Lys2530Arg)
c.7559A>G (p.Lys2520Arg)
c.7496A>G (p.Lys2499Arg)
c.6494A>G (p.Lys2165Arg)
c.942A>G
c.7695A>G (n.7695A>G)
c.600+2040A>G
c.7550A>G (p.Lys2517Arg)
c.7526A>G (p.Lys2509Arg)
c.7586A>G (p.Lys2529Arg)
 dbSNP
17g.31352358A>TCA399017691NF1c.7541A>T (p.Lys2514Ile)
c.2123A>T (p.Lys708Ile)
c.1715A>T (p.Lys572Ile)
n.4204A>T
c.609A>T
c.7589A>T (p.Lys2530Ile)
c.7559A>T (p.Lys2520Ile)
c.7496A>T (p.Lys2499Ile)
c.6494A>T (p.Lys2165Ile)
c.942A>T
c.7695A>T (n.7695A>T)
c.600+2040A>T
c.7550A>T (p.Lys2517Ile)
c.7526A>T (p.Lys2509Ile)
c.7586A>T (p.Lys2529Ile)
 dbSNP
17g.31352359A=CA2255610109NF1c.7542A= (p.Lys2514=)
c.2124A= (p.Lys708=)
c.1716A= (p.Lys572=)
n.4205A=
c.610A=
c.7590A= (p.Lys2530=)
c.7560A= (p.Lys2520=)
c.7497A= (p.Lys2499=)
c.6495A= (p.Lys2165=)
c.943A=
c.7696A= (n.7696A=)
c.600+2041A=
c.7551A= (p.Lys2517=)
c.7527A= (p.Lys2509=)
c.7587A= (p.Lys2529=)
17g.31352359A>CCA399017694NF1c.7542A>C (p.Lys2514Asn)
c.2124A>C (p.Lys708Asn)
c.1716A>C (p.Lys572Asn)
n.4205A>C
c.610A>C
c.7590A>C (p.Lys2530Asn)
c.7560A>C (p.Lys2520Asn)
c.7497A>C (p.Lys2499Asn)
c.6495A>C (p.Lys2165Asn)
c.943A>C
c.7696A>C (n.7696A>C)
c.600+2041A>C
c.7551A>C (p.Lys2517Asn)
c.7527A>C (p.Lys2509Asn)
c.7587A>C (p.Lys2529Asn)
 dbSNP
17g.31352359A>GCA499239298NF1c.7542A>G (p.Lys2514=)
c.2124A>G (p.Lys708=)
c.1716A>G (p.Lys572=)
n.4205A>G
c.610A>G
c.7590A>G (p.Lys2530=)
c.7560A>G (p.Lys2520=)
c.7497A>G (p.Lys2499=)
c.6495A>G (p.Lys2165=)
c.943A>G
c.7696A>G (n.7696A>G)
c.600+2041A>G
c.7551A>G (p.Lys2517=)
c.7527A>G (p.Lys2509=)
c.7587A>G (p.Lys2529=)
 ClinVar dbSNP gnomAD v4
17g.31352359A>TCA399017696NF1c.7542A>T (p.Lys2514Asn)
c.2124A>T (p.Lys708Asn)
c.1716A>T (p.Lys572Asn)
n.4205A>T
c.610A>T
c.7590A>T (p.Lys2530Asn)
c.7560A>T (p.Lys2520Asn)
c.7497A>T (p.Lys2499Asn)
c.6495A>T (p.Lys2165Asn)
c.943A>T
c.7696A>T (n.7696A>T)
c.600+2041A>T
c.7551A>T (p.Lys2517Asn)
c.7527A>T (p.Lys2509Asn)
c.7587A>T (p.Lys2529Asn)
17g.31352360T>ACA399017698NF1c.7543T>A (p.Ser2515Thr)
c.2125T>A (p.Ser709Thr)
c.1717T>A (p.Ser573Thr)
n.4206T>A
c.611T>A
c.7591T>A (p.Ser2531Thr)
c.7561T>A (p.Ser2521Thr)
c.7498T>A (p.Ser2500Thr)
c.6496T>A (p.Ser2166Thr)
c.944T>A
c.7697T>A (n.7697T>A)
c.600+2042T>A
c.7552T>A (p.Ser2518Thr)
c.7528T>A (p.Ser2510Thr)
c.7588T>A (p.Ser2530Thr)
17g.31352360T>CCA399017699NF1c.7543T>C (p.Ser2515Pro)
c.2125T>C (p.Ser709Pro)
c.1717T>C (p.Ser573Pro)
n.4206T>C
c.611T>C
c.7591T>C (p.Ser2531Pro)
c.7561T>C (p.Ser2521Pro)
c.7498T>C (p.Ser2500Pro)
c.6496T>C (p.Ser2166Pro)
c.944T>C
c.7697T>C (n.7697T>C)
c.600+2042T>C
c.7552T>C (p.Ser2518Pro)
c.7528T>C (p.Ser2510Pro)
c.7588T>C (p.Ser2530Pro)
17g.31352360T>GCA399017701NF1c.7543T>G (p.Ser2515Ala)
c.2125T>G (p.Ser709Ala)
c.1717T>G (p.Ser573Ala)
n.4206T>G
c.611T>G
c.7591T>G (p.Ser2531Ala)
c.7561T>G (p.Ser2521Ala)
c.7498T>G (p.Ser2500Ala)
c.6496T>G (p.Ser2166Ala)
c.944T>G
c.7697T>G (n.7697T>G)
c.600+2042T>G
c.7552T>G (p.Ser2518Ala)
c.7528T>G (p.Ser2510Ala)
c.7588T>G (p.Ser2530Ala)
17g.31352360delinsCCCA2580093420NF1c.7543delinsCC (p.Ser2515ProfsTer15)
c.2125delinsCC (p.Ser709ProfsTer15)
c.1717delinsCC (p.Ser573ProfsTer15)
n.4206delinsCC
c.611delinsCC
c.7591delinsCC (p.Ser2531ProfsTer15)
c.7561delinsCC (p.Ser2521ProfsTer15)
c.7498delinsCC (p.Ser2500ProfsTer15)
c.6496delinsCC (p.Ser2166ProfsTer15)
c.944delinsCC
c.7697delinsCC (n.7697delinsCC)
c.600+2042delinsCC
c.7552delinsCC (p.Ser2518ProfsTer15)
c.7528delinsCC (p.Ser2510ProfsTer15)
c.7588delinsCC (p.Ser2530ProfsTer15)
 ClinVar
17g.31352361C>ACA399017703NF1c.7544C>A (p.Ser2515Tyr)
c.2126C>A (p.Ser709Tyr)
c.1718C>A (p.Ser573Tyr)
n.4207C>A
c.612C>A
c.7592C>A (p.Ser2531Tyr)
c.7562C>A (p.Ser2521Tyr)
c.7499C>A (p.Ser2500Tyr)
c.6497C>A (p.Ser2166Tyr)
c.945C>A
c.7698C>A (n.7698C>A)
c.600+2043C>A
c.7553C>A (p.Ser2518Tyr)
c.7529C>A (p.Ser2510Tyr)
c.7589C>A (p.Ser2530Tyr)
 dbSNP
17g.31352361C>GCA399017704NF1c.7544C>G (p.Ser2515Cys)
c.2126C>G (p.Ser709Cys)
c.1718C>G (p.Ser573Cys)
n.4207C>G
c.612C>G
c.7592C>G (p.Ser2531Cys)
c.7562C>G (p.Ser2521Cys)
c.7499C>G (p.Ser2500Cys)
c.6497C>G (p.Ser2166Cys)
c.945C>G
c.7698C>G (n.7698C>G)
c.600+2043C>G
c.7553C>G (p.Ser2518Cys)
c.7529C>G (p.Ser2510Cys)
c.7589C>G (p.Ser2530Cys)
 dbSNP
17g.31352361C>TCA399017705NF1c.7544C>T (p.Ser2515Phe)
c.2126C>T (p.Ser709Phe)
c.1718C>T (p.Ser573Phe)
n.4207C>T
c.612C>T
c.7592C>T (p.Ser2531Phe)
c.7562C>T (p.Ser2521Phe)
c.7499C>T (p.Ser2500Phe)
c.6497C>T (p.Ser2166Phe)
c.945C>T
c.7698C>T (n.7698C>T)
c.600+2043C>T
c.7553C>T (p.Ser2518Phe)
c.7529C>T (p.Ser2510Phe)
c.7589C>T (p.Ser2530Phe)
 dbSNP
17g.31352362delCA2739290949NF1c.7545del (p.Met2516Ter)
c.2127del (p.Met710Ter)
c.1719del (p.Met574Ter)
n.4208del
c.613del
c.7593del (p.Met2532Ter)
c.7563del (p.Met2522Ter)
c.7500del (p.Met2501Ter)
c.6498del (p.Met2167Ter)
c.946del
c.7699del (n.7699del)
c.600+2044del
c.7554del (p.Met2519Ter)
c.7530del (p.Met2511Ter)
c.7590del (p.Met2531Ter)
17g.31352367_31353908delCA2580093421NF1c.7550_7597+1494del
c.2132_2179+1494del
c.1724_1771+1494del
n.4213_4260+1494del
c.618_665+1494del
c.7598_7645+1494del
c.7568_7615+1494del
c.7505_7552+1494del
c.6503_6550+1494del
c.951_998+1494del
c.7704_7751+1494del
c.600+2049_601-2552del
c.7559_7606+1494del
c.7535_7582+1494del
c.7595_7642+1494del
 ClinVar
17g.31352362C>ACA499239299NF1c.7545C>A (p.Ser2515=)
c.2127C>A (p.Ser709=)
c.1719C>A (p.Ser573=)
n.4208C>A
c.613C>A
c.7593C>A (p.Ser2531=)
c.7563C>A (p.Ser2521=)
c.7500C>A (p.Ser2500=)
c.6498C>A (p.Ser2166=)
c.946C>A
c.7699C>A (n.7699C>A)
c.600+2044C>A
c.7554C>A (p.Ser2518=)
c.7530C>A (p.Ser2510=)
c.7590C>A (p.Ser2530=)
 dbSNP
17g.31352362C>GCA499239301NF1c.7545C>G (p.Ser2515=)
c.2127C>G (p.Ser709=)
c.1719C>G (p.Ser573=)
n.4208C>G
c.613C>G
c.7593C>G (p.Ser2531=)
c.7563C>G (p.Ser2521=)
c.7500C>G (p.Ser2500=)
c.6498C>G (p.Ser2166=)
c.946C>G
c.7699C>G (n.7699C>G)
c.600+2044C>G
c.7554C>G (p.Ser2518=)
c.7530C>G (p.Ser2510=)
c.7590C>G (p.Ser2530=)
 dbSNP
17g.31352362C>TCA499239300NF1c.7545C>T (p.Ser2515=)
c.2127C>T (p.Ser709=)
c.1719C>T (p.Ser573=)
n.4208C>T
c.613C>T
c.7593C>T (p.Ser2531=)
c.7563C>T (p.Ser2521=)
c.7500C>T (p.Ser2500=)
c.6498C>T (p.Ser2166=)
c.946C>T
c.7699C>T (n.7699C>T)
c.600+2044C>T
c.7554C>T (p.Ser2518=)
c.7530C>T (p.Ser2510=)
c.7590C>T (p.Ser2530=)
 dbSNP
17g.31352363A=CA2255610114NF1c.7546A= (p.Met2516=)
c.2128A= (p.Met710=)
c.1720A= (p.Met574=)
n.4209A=
c.614A=
c.7594A= (p.Met2532=)
c.7564A= (p.Met2522=)
c.7501A= (p.Met2501=)
c.6499A= (p.Met2167=)
c.947A=
c.7700A= (n.7700A=)
c.600+2045A=
c.7555A= (p.Met2519=)
c.7531A= (p.Met2511=)
c.7591A= (p.Met2531=)
17g.31352363A>CCA399017707NF1c.7546A>C (p.Met2516Leu)
c.2128A>C (p.Met710Leu)
c.1720A>C (p.Met574Leu)
n.4209A>C
c.614A>C
c.7594A>C (p.Met2532Leu)
c.7564A>C (p.Met2522Leu)
c.7501A>C (p.Met2501Leu)
c.6499A>C (p.Met2167Leu)
c.947A>C
c.7700A>C (n.7700A>C)
c.600+2045A>C
c.7555A>C (p.Met2519Leu)
c.7531A>C (p.Met2511Leu)
c.7591A>C (p.Met2531Leu)
17g.31352363A>GCA399017708NF1c.7546A>G (p.Met2516Val)
c.2128A>G (p.Met710Val)
c.1720A>G (p.Met574Val)
n.4209A>G
c.614A>G
c.7594A>G (p.Met2532Val)
c.7564A>G (p.Met2522Val)
c.7501A>G (p.Met2501Val)
c.6499A>G (p.Met2167Val)
c.947A>G
c.7700A>G (n.7700A>G)
c.600+2045A>G
c.7555A>G (p.Met2519Val)
c.7531A>G (p.Met2511Val)
c.7591A>G (p.Met2531Val)
 ClinVar dbSNP
17g.31352363A>TCA399017710NF1c.7546A>T (p.Met2516Leu)
c.2128A>T (p.Met710Leu)
c.1720A>T (p.Met574Leu)
n.4209A>T
c.614A>T
c.7594A>T (p.Met2532Leu)
c.7564A>T (p.Met2522Leu)
c.7501A>T (p.Met2501Leu)
c.6499A>T (p.Met2167Leu)
c.947A>T
c.7700A>T (n.7700A>T)
c.600+2045A>T
c.7555A>T (p.Met2519Leu)
c.7531A>T (p.Met2511Leu)
c.7591A>T (p.Met2531Leu)
17g.31352364T>ACA399017714NF1c.7547T>A (p.Met2516Lys)
c.2129T>A (p.Met710Lys)
c.1721T>A (p.Met574Lys)
n.4210T>A
c.615T>A
c.7595T>A (p.Met2532Lys)
c.7565T>A (p.Met2522Lys)
c.7502T>A (p.Met2501Lys)
c.6500T>A (p.Met2167Lys)
c.948T>A
c.7701T>A (n.7701T>A)
c.600+2046T>A
c.7556T>A (p.Met2519Lys)
c.7532T>A (p.Met2511Lys)
c.7592T>A (p.Met2531Lys)
 dbSNP
17g.31352364T>CCA399017713NF1c.7547T>C (p.Met2516Thr)
c.2129T>C (p.Met710Thr)
c.1721T>C (p.Met574Thr)
n.4210T>C
c.615T>C
c.7595T>C (p.Met2532Thr)
c.7565T>C (p.Met2522Thr)
c.7502T>C (p.Met2501Thr)
c.6500T>C (p.Met2167Thr)
c.948T>C
c.7701T>C (n.7701T>C)
c.600+2046T>C
c.7556T>C (p.Met2519Thr)
c.7532T>C (p.Met2511Thr)
c.7592T>C (p.Met2531Thr)
 dbSNP
17g.31352364T>GCA399017712NF1c.7547T>G (p.Met2516Arg)
c.2129T>G (p.Met710Arg)
c.1721T>G (p.Met574Arg)
n.4210T>G
c.615T>G
c.7595T>G (p.Met2532Arg)
c.7565T>G (p.Met2522Arg)
c.7502T>G (p.Met2501Arg)
c.6500T>G (p.Met2167Arg)
c.948T>G
c.7701T>G (n.7701T>G)
c.600+2046T>G
c.7556T>G (p.Met2519Arg)
c.7532T>G (p.Met2511Arg)
c.7592T>G (p.Met2531Arg)
17g.31352365G>ACA399017715NF1c.7548G>A (p.Met2516Ile)
c.2130G>A (p.Met710Ile)
c.1722G>A (p.Met574Ile)
n.4211G>A
c.616G>A
c.7596G>A (p.Met2532Ile)
c.7566G>A (p.Met2522Ile)
c.7503G>A (p.Met2501Ile)
c.6501G>A (p.Met2167Ile)
c.949G>A
c.7702G>A (n.7702G>A)
c.600+2047G>A
c.7557G>A (p.Met2519Ile)
c.7533G>A (p.Met2511Ile)
c.7593G>A (p.Met2531Ile)
 ClinVar dbSNP
17g.31352365G>CCA399017717NF1c.7548G>C (p.Met2516Ile)
c.2130G>C (p.Met710Ile)
c.1722G>C (p.Met574Ile)
n.4211G>C
c.616G>C
c.7596G>C (p.Met2532Ile)
c.7566G>C (p.Met2522Ile)
c.7503G>C (p.Met2501Ile)
c.6501G>C (p.Met2167Ile)
c.949G>C
c.7702G>C (n.7702G>C)
c.600+2047G>C
c.7557G>C (p.Met2519Ile)
c.7533G>C (p.Met2511Ile)
c.7593G>C (p.Met2531Ile)
 dbSNP
17g.31352365G=CA2255610117NF1c.7548G= (p.Met2516=)
c.2130G= (p.Met710=)
c.1722G= (p.Met574=)
n.4211G=
c.616G=
c.7596G= (p.Met2532=)
c.7566G= (p.Met2522=)
c.7503G= (p.Met2501=)
c.6501G= (p.Met2167=)
c.949G=
c.7702G= (n.7702G=)
c.600+2047G=
c.7557G= (p.Met2519=)
c.7533G= (p.Met2511=)
c.7593G= (p.Met2531=)
17g.31352365G>TCA399017719NF1c.7548G>T (p.Met2516Ile)
c.2130G>T (p.Met710Ile)
c.1722G>T (p.Met574Ile)
n.4211G>T
c.616G>T
c.7596G>T (p.Met2532Ile)
c.7566G>T (p.Met2522Ile)
c.7503G>T (p.Met2501Ile)
c.6501G>T (p.Met2167Ile)
c.949G>T
c.7702G>T (n.7702G>T)
c.600+2047G>T
c.7557G>T (p.Met2519Ile)
c.7533G>T (p.Met2511Ile)
c.7593G>T (p.Met2531Ile)
 dbSNP
17g.31352366A=CA2255610120NF1c.7549A= (p.Ser2517=)
c.2131A= (p.Ser711=)
c.1723A= (p.Ser575=)
n.4212A=
c.617A=
c.7597A= (p.Ser2533=)
c.7567A= (p.Ser2523=)
c.7504A= (p.Ser2502=)
c.6502A= (p.Ser2168=)
c.950A=
c.7703A= (n.7703A=)
c.600+2048A=
c.7558A= (p.Ser2520=)
c.7534A= (p.Ser2512=)
c.7594A= (p.Ser2532=)
17g.31352366A>CCA289403904NF1c.7549A>C (p.Ser2517Arg)
c.2131A>C (p.Ser711Arg)
c.1723A>C (p.Ser575Arg)
n.4212A>C
c.617A>C
c.7597A>C (p.Ser2533Arg)
c.7567A>C (p.Ser2523Arg)
c.7504A>C (p.Ser2502Arg)
c.6502A>C (p.Ser2168Arg)
c.950A>C
c.7703A>C (n.7703A>C)
c.600+2048A>C
c.7558A>C (p.Ser2520Arg)
c.7534A>C (p.Ser2512Arg)
c.7594A>C (p.Ser2532Arg)
 dbSNP
17g.31352366A>GCA399017722NF1c.7549A>G (p.Ser2517Gly)
c.2131A>G (p.Ser711Gly)
c.1723A>G (p.Ser575Gly)
n.4212A>G
c.617A>G
c.7597A>G (p.Ser2533Gly)
c.7567A>G (p.Ser2523Gly)
c.7504A>G (p.Ser2502Gly)
c.6502A>G (p.Ser2168Gly)
c.950A>G
c.7703A>G (n.7703A>G)
c.600+2048A>G
c.7558A>G (p.Ser2520Gly)
c.7534A>G (p.Ser2512Gly)
c.7594A>G (p.Ser2532Gly)
17g.31352366A>TCA399017724NF1c.7549A>T (p.Ser2517Cys)
c.2131A>T (p.Ser711Cys)
c.1723A>T (p.Ser575Cys)
n.4212A>T
c.617A>T
c.7597A>T (p.Ser2533Cys)
c.7567A>T (p.Ser2523Cys)
c.7504A>T (p.Ser2502Cys)
c.6502A>T (p.Ser2168Cys)
c.950A>T
c.7703A>T (n.7703A>T)
c.600+2048A>T
c.7558A>T (p.Ser2520Cys)
c.7534A>T (p.Ser2512Cys)
c.7594A>T (p.Ser2532Cys)
 dbSNP
17g.31352367G>ACA399017725NF1c.7550G>A (p.Ser2517Asn)
c.2132G>A (p.Ser711Asn)
c.1724G>A (p.Ser575Asn)
n.4213G>A
c.618G>A
c.7598G>A (p.Ser2533Asn)
c.7568G>A (p.Ser2523Asn)
c.7505G>A (p.Ser2502Asn)
c.6503G>A (p.Ser2168Asn)
c.951G>A
c.7704G>A (n.7704G>A)
c.600+2049G>A
c.7559G>A (p.Ser2520Asn)
c.7535G>A (p.Ser2512Asn)
c.7595G>A (p.Ser2532Asn)
 ClinVar dbSNP
17g.31352367G>CCA399017727NF1c.7550G>C (p.Ser2517Thr)
c.2132G>C (p.Ser711Thr)
c.1724G>C (p.Ser575Thr)
n.4213G>C
c.618G>C
c.7598G>C (p.Ser2533Thr)
c.7568G>C (p.Ser2523Thr)
c.7505G>C (p.Ser2502Thr)
c.6503G>C (p.Ser2168Thr)
c.951G>C
c.7704G>C (n.7704G>C)
c.600+2049G>C
c.7559G>C (p.Ser2520Thr)
c.7535G>C (p.Ser2512Thr)
c.7595G>C (p.Ser2532Thr)
 dbSNP
17g.31352367G>TCA399017728NF1c.7550G>T (p.Ser2517Ile)
c.2132G>T (p.Ser711Ile)
c.1724G>T (p.Ser575Ile)
n.4213G>T
c.618G>T
c.7598G>T (p.Ser2533Ile)
c.7568G>T (p.Ser2523Ile)
c.7505G>T (p.Ser2502Ile)
c.6503G>T (p.Ser2168Ile)
c.951G>T
c.7704G>T (n.7704G>T)
c.600+2049G>T
c.7559G>T (p.Ser2520Ile)
c.7535G>T (p.Ser2512Ile)
c.7595G>T (p.Ser2532Ile)
 dbSNP
17g.31352368C>ACA399017730NF1c.7551C>A (p.Ser2517Arg)
c.2133C>A (p.Ser711Arg)
c.1725C>A (p.Ser575Arg)
n.4214C>A
c.619C>A
c.7599C>A (p.Ser2533Arg)
c.7569C>A (p.Ser2523Arg)
c.7506C>A (p.Ser2502Arg)
c.6504C>A (p.Ser2168Arg)
c.952C>A
c.7705C>A (n.7705C>A)
c.600+2050C>A
c.7560C>A (p.Ser2520Arg)
c.7536C>A (p.Ser2512Arg)
c.7596C>A (p.Ser2532Arg)
 dbSNP
17g.31352368C=CA2255610124NF1c.7551C= (p.Ser2517=)
c.2133C= (p.Ser711=)
c.1725C= (p.Ser575=)
n.4214C=
c.619C=
c.7599C= (p.Ser2533=)
c.7569C= (p.Ser2523=)
c.7506C= (p.Ser2502=)
c.6504C= (p.Ser2168=)
c.952C=
c.7705C= (n.7705C=)
c.600+2050C=
c.7560C= (p.Ser2520=)
c.7536C= (p.Ser2512=)
c.7596C= (p.Ser2532=)
17g.31352368C>GCA399017732NF1c.7551C>G (p.Ser2517Arg)
c.2133C>G (p.Ser711Arg)
c.1725C>G (p.Ser575Arg)
n.4214C>G
c.619C>G
c.7599C>G (p.Ser2533Arg)
c.7569C>G (p.Ser2523Arg)
c.7506C>G (p.Ser2502Arg)
c.6504C>G (p.Ser2168Arg)
c.952C>G
c.7705C>G (n.7705C>G)
c.600+2050C>G
c.7560C>G (p.Ser2520Arg)
c.7536C>G (p.Ser2512Arg)
c.7596C>G (p.Ser2532Arg)
 dbSNP
17g.31352368C>TCA189024NF1c.7551C>T (p.Ser2517=)
c.2133C>T (p.Ser711=)
c.1725C>T (p.Ser575=)
n.4214C>T
c.619C>T
c.7599C>T (p.Ser2533=)
c.7569C>T (p.Ser2523=)
c.7506C>T (p.Ser2502=)
c.6504C>T (p.Ser2168=)
c.952C>T
c.7705C>T (n.7705C>T)
c.600+2050C>T
c.7560C>T (p.Ser2520=)
c.7536C>T (p.Ser2512=)
c.7596C>T (p.Ser2532=)
 ClinVar dbSNP gnomAD v4
17g.31352369C>ACA399017734NF1c.7552C>A (p.Leu2518Met)
c.2134C>A (p.Leu712Met)
c.1726C>A (p.Leu576Met)
n.4215C>A
c.620C>A
c.7600C>A (p.Leu2534Met)
c.7570C>A (p.Leu2524Met)
c.7507C>A (p.Leu2503Met)
c.6505C>A (p.Leu2169Met)
c.953C>A
c.7706C>A (n.7706C>A)
c.600+2051C>A
c.7561C>A (p.Leu2521Met)
c.7537C>A (p.Leu2513Met)
c.7597C>A (p.Leu2533Met)
 dbSNP
17g.31352369C=CA2255610129NF1c.7552C= (p.Leu2518=)
c.2134C= (p.Leu712=)
c.1726C= (p.Leu576=)
n.4215C=
c.620C=
c.7600C= (p.Leu2534=)
c.7570C= (p.Leu2524=)
c.7507C= (p.Leu2503=)
c.6505C= (p.Leu2169=)
c.953C=
c.7706C= (n.7706C=)
c.600+2051C=
c.7561C= (p.Leu2521=)
c.7537C= (p.Leu2513=)
c.7597C= (p.Leu2533=)
17g.31352369C>GCA399017735NF1c.7552C>G (p.Leu2518Val)
c.2134C>G (p.Leu712Val)
c.1726C>G (p.Leu576Val)
n.4215C>G
c.620C>G
c.7600C>G (p.Leu2534Val)
c.7570C>G (p.Leu2524Val)
c.7507C>G (p.Leu2503Val)
c.6505C>G (p.Leu2169Val)
c.953C>G
c.7706C>G (n.7706C>G)
c.600+2051C>G
c.7561C>G (p.Leu2521Val)
c.7537C>G (p.Leu2513Val)
c.7597C>G (p.Leu2533Val)
 ClinVar dbSNP
17g.31352369C>TCA499239302NF1c.7552C>T (p.Leu2518=)
c.2134C>T (p.Leu712=)
c.1726C>T (p.Leu576=)
n.4215C>T
c.620C>T
c.7600C>T (p.Leu2534=)
c.7570C>T (p.Leu2524=)
c.7507C>T (p.Leu2503=)
c.6505C>T (p.Leu2169=)
c.953C>T
c.7706C>T (n.7706C>T)
c.600+2051C>T
c.7561C>T (p.Leu2521=)
c.7537C>T (p.Leu2513=)
c.7597C>T (p.Leu2533=)
 ClinVar dbSNP
17g.31352370T>ACA399017737NF1c.7553T>A (p.Leu2518Gln)
c.2135T>A (p.Leu712Gln)
c.1727T>A (p.Leu576Gln)
n.4216T>A
c.621T>A
c.7601T>A (p.Leu2534Gln)
c.7571T>A (p.Leu2524Gln)
c.7508T>A (p.Leu2503Gln)
c.6506T>A (p.Leu2169Gln)
c.954T>A
c.7707T>A (n.7707T>A)
c.600+2052T>A
c.7562T>A (p.Leu2521Gln)
c.7538T>A (p.Leu2513Gln)
c.7598T>A (p.Leu2533Gln)
17g.31352370T>CCA399017739NF1c.7553T>C (p.Leu2518Pro)
c.2135T>C (p.Leu712Pro)
c.1727T>C (p.Leu576Pro)
n.4216T>C
c.621T>C
c.7601T>C (p.Leu2534Pro)
c.7571T>C (p.Leu2524Pro)
c.7508T>C (p.Leu2503Pro)
c.6506T>C (p.Leu2169Pro)
c.954T>C
c.7707T>C (n.7707T>C)
c.600+2052T>C
c.7562T>C (p.Leu2521Pro)
c.7538T>C (p.Leu2513Pro)
c.7598T>C (p.Leu2533Pro)
17g.31352370T>GCA399017740NF1c.7553T>G (p.Leu2518Arg)
c.2135T>G (p.Leu712Arg)
c.1727T>G (p.Leu576Arg)
n.4216T>G
c.621T>G
c.7601T>G (p.Leu2534Arg)
c.7571T>G (p.Leu2524Arg)
c.7508T>G (p.Leu2503Arg)
c.6506T>G (p.Leu2169Arg)
c.954T>G
c.7707T>G (n.7707T>G)
c.600+2052T>G
c.7562T>G (p.Leu2521Arg)
c.7538T>G (p.Leu2513Arg)
c.7598T>G (p.Leu2533Arg)
17g.31352371G>ACA499239303NF1c.7554G>A (p.Leu2518=)
c.2136G>A (p.Leu712=)
c.1728G>A (p.Leu576=)
n.4217G>A
c.622G>A
c.7602G>A (p.Leu2534=)
c.7572G>A (p.Leu2524=)
c.7509G>A (p.Leu2503=)
c.6507G>A (p.Leu2169=)
c.955G>A
c.7708G>A (n.7708G>A)
c.600+2053G>A
c.7563G>A (p.Leu2521=)
c.7539G>A (p.Leu2513=)
c.7599G>A (p.Leu2533=)
 dbSNP
17g.31352371G>CCA499239304NF1c.7554G>C (p.Leu2518=)
c.2136G>C (p.Leu712=)
c.1728G>C (p.Leu576=)
n.4217G>C
c.622G>C
c.7602G>C (p.Leu2534=)
c.7572G>C (p.Leu2524=)
c.7509G>C (p.Leu2503=)
c.6507G>C (p.Leu2169=)
c.955G>C
c.7708G>C (n.7708G>C)
c.600+2053G>C
c.7563G>C (p.Leu2521=)
c.7539G>C (p.Leu2513=)
c.7599G>C (p.Leu2533=)
 dbSNP
17g.31352371G>TCA499239305NF1c.7554G>T (p.Leu2518=)
c.2136G>T (p.Leu712=)
c.1728G>T (p.Leu576=)
n.4217G>T
c.622G>T
c.7602G>T (p.Leu2534=)
c.7572G>T (p.Leu2524=)
c.7509G>T (p.Leu2503=)
c.6507G>T (p.Leu2169=)
c.955G>T
c.7708G>T (n.7708G>T)
c.600+2053G>T
c.7563G>T (p.Leu2521=)
c.7539G>T (p.Leu2513=)
c.7599G>T (p.Leu2533=)
17g.31352372delCA2695225513NF1c.7555del (p.Asp2519ThrfsTer23)
c.2137del (p.Asp713ThrfsTer23)
c.1729del (p.Asp577ThrfsTer23)
n.4218del
c.623del
c.7603del (p.Asp2535ThrfsTer23)
c.7573del (p.Asp2525ThrfsTer23)
c.7510del (p.Asp2504ThrfsTer23)
c.6508del (p.Asp2170ThrfsTer23)
c.956del
c.7709del (n.7709del)
c.600+2054del
c.7564del (p.Asp2522ThrfsTer23)
c.7540del (p.Asp2514ThrfsTer23)
c.7600del (p.Asp2534ThrfsTer23)
c.7603del (p.Asp2535ThrfsTer?)
17g.31352372G>ACA399017741NF1c.7555G>A (p.Asp2519Asn)
c.2137G>A (p.Asp713Asn)
c.1729G>A (p.Asp577Asn)
n.4218G>A
c.623G>A
c.7603G>A (p.Asp2535Asn)
c.7573G>A (p.Asp2525Asn)
c.7510G>A (p.Asp2504Asn)
c.6508G>A (p.Asp2170Asn)
c.956G>A
c.7709G>A (n.7709G>A)
c.600+2054G>A
c.7564G>A (p.Asp2522Asn)
c.7540G>A (p.Asp2514Asn)
c.7600G>A (p.Asp2534Asn)
 dbSNP
17g.31352372G>CCA399017743NF1c.7555G>C (p.Asp2519His)
c.2137G>C (p.Asp713His)
c.1729G>C (p.Asp577His)
n.4218G>C
c.623G>C
c.7603G>C (p.Asp2535His)
c.7573G>C (p.Asp2525His)
c.7510G>C (p.Asp2504His)
c.6508G>C (p.Asp2170His)
c.956G>C
c.7709G>C (n.7709G>C)
c.600+2054G>C
c.7564G>C (p.Asp2522His)
c.7540G>C (p.Asp2514His)
c.7600G>C (p.Asp2534His)
 dbSNP
17g.31352372G=CA2255610131NF1c.7555G= (p.Asp2519=)
c.2137G= (p.Asp713=)
c.1729G= (p.Asp577=)
n.4218G=
c.623G=
c.7603G= (p.Asp2535=)
c.7573G= (p.Asp2525=)
c.7510G= (p.Asp2504=)
c.6508G= (p.Asp2170=)
c.956G=
c.7709G= (n.7709G=)
c.600+2054G=
c.7564G= (p.Asp2522=)
c.7540G= (p.Asp2514=)
c.7600G= (p.Asp2534=)
17g.31352372G>TCA399017744NF1c.7555G>T (p.Asp2519Tyr)
c.2137G>T (p.Asp713Tyr)
c.1729G>T (p.Asp577Tyr)
n.4218G>T
c.623G>T
c.7603G>T (p.Asp2535Tyr)
c.7573G>T (p.Asp2525Tyr)
c.7510G>T (p.Asp2504Tyr)
c.6508G>T (p.Asp2170Tyr)
c.956G>T
c.7709G>T (n.7709G>T)
c.600+2054G>T
c.7564G>T (p.Asp2522Tyr)
c.7540G>T (p.Asp2514Tyr)
c.7600G>T (p.Asp2534Tyr)
 dbSNP
17g.31352372_31352373insTCA916080676NF1c.7555_7556insT (p.Asp2519ValfsTer11)
c.2137_2138insT (p.Asp713ValfsTer11)
c.1729_1730insT (p.Asp577ValfsTer11)
n.4218_4219insT
c.623_624insT
c.7603_7604insT (p.Asp2535ValfsTer11)
c.7573_7574insT (p.Asp2525ValfsTer11)
c.7510_7511insT (p.Asp2504ValfsTer11)
c.6508_6509insT (p.Asp2170ValfsTer11)
c.956_957insT
c.7709_7710insT (n.7709_7710insT)
c.600+2054_600+2055insT
c.7564_7565insT (p.Asp2522ValfsTer11)
c.7540_7541insT (p.Asp2514ValfsTer11)
c.7600_7601insT (p.Asp2534ValfsTer11)
 ClinVar dbSNP
17g.31352373A>CCA399017749NF1c.7556A>C (p.Asp2519Ala)
c.2138A>C (p.Asp713Ala)
c.1730A>C (p.Asp577Ala)
n.4219A>C
c.624A>C
c.7604A>C (p.Asp2535Ala)
c.7574A>C (p.Asp2525Ala)
c.7511A>C (p.Asp2504Ala)
c.6509A>C (p.Asp2170Ala)
c.957A>C
c.7710A>C (n.7710A>C)
c.600+2055A>C
c.7565A>C (p.Asp2522Ala)
c.7541A>C (p.Asp2514Ala)
c.7601A>C (p.Asp2534Ala)
 dbSNP
17g.31352373A>GCA399017746NF1c.7556A>G (p.Asp2519Gly)
c.2138A>G (p.Asp713Gly)
c.1730A>G (p.Asp577Gly)
n.4219A>G
c.624A>G
c.7604A>G (p.Asp2535Gly)
c.7574A>G (p.Asp2525Gly)
c.7511A>G (p.Asp2504Gly)
c.6509A>G (p.Asp2170Gly)
c.957A>G
c.7710A>G (n.7710A>G)
c.600+2055A>G
c.7565A>G (p.Asp2522Gly)
c.7541A>G (p.Asp2514Gly)
c.7601A>G (p.Asp2534Gly)
 dbSNP
17g.31352373A>TCA399017748NF1c.7556A>T (p.Asp2519Val)
c.2138A>T (p.Asp713Val)
c.1730A>T (p.Asp577Val)
n.4219A>T
c.624A>T
c.7604A>T (p.Asp2535Val)
c.7574A>T (p.Asp2525Val)
c.7511A>T (p.Asp2504Val)
c.6509A>T (p.Asp2170Val)
c.957A>T
c.7710A>T (n.7710A>T)
c.600+2055A>T
c.7565A>T (p.Asp2522Val)
c.7541A>T (p.Asp2514Val)
c.7601A>T (p.Asp2534Val)
 dbSNP
17g.31352374C>ACA399017750NF1c.7557C>A (p.Asp2519Glu)
c.2139C>A (p.Asp713Glu)
c.1731C>A (p.Asp577Glu)
n.4220C>A
c.625C>A
c.7605C>A (p.Asp2535Glu)
c.7575C>A (p.Asp2525Glu)
c.7512C>A (p.Asp2504Glu)
c.6510C>A (p.Asp2170Glu)
c.958C>A
c.7711C>A (n.7711C>A)
c.600+2056C>A
c.7566C>A (p.Asp2522Glu)
c.7542C>A (p.Asp2514Glu)
c.7602C>A (p.Asp2534Glu)
 dbSNP
17g.31352374C>GCA399017751NF1c.7557C>G (p.Asp2519Glu)
c.2139C>G (p.Asp713Glu)
c.1731C>G (p.Asp577Glu)
n.4220C>G
c.625C>G
c.7605C>G (p.Asp2535Glu)
c.7575C>G (p.Asp2525Glu)
c.7512C>G (p.Asp2504Glu)
c.6510C>G (p.Asp2170Glu)
c.958C>G
c.7711C>G (n.7711C>G)
c.600+2056C>G
c.7566C>G (p.Asp2522Glu)
c.7542C>G (p.Asp2514Glu)
c.7602C>G (p.Asp2534Glu)
 dbSNP
17g.31352374C>TCA499239306NF1c.7557C>T (p.Asp2519=)
c.2139C>T (p.Asp713=)
c.1731C>T (p.Asp577=)
n.4220C>T
c.625C>T
c.7605C>T (p.Asp2535=)
c.7575C>T (p.Asp2525=)
c.7512C>T (p.Asp2504=)
c.6510C>T (p.Asp2170=)
c.958C>T
c.7711C>T (n.7711C>T)
c.600+2056C>T
c.7566C>T (p.Asp2522=)
c.7542C>T (p.Asp2514=)
c.7602C>T (p.Asp2534=)
 dbSNP
17g.31352375A=CA2255610134NF1c.7558A= (p.Met2520=)
c.2140A= (p.Met714=)
c.1732A= (p.Met578=)
n.4221A=
c.626A=
c.7606A= (p.Met2536=)
c.7576A= (p.Met2526=)
c.7513A= (p.Met2505=)
c.6511A= (p.Met2171=)
c.959A=
c.7712A= (n.7712A=)
c.600+2057A=
c.7567A= (p.Met2523=)
c.7543A= (p.Met2515=)
c.7603A= (p.Met2535=)
17g.31352375A>CCA399017752NF1c.7558A>C (p.Met2520Leu)
c.2140A>C (p.Met714Leu)
c.1732A>C (p.Met578Leu)
n.4221A>C
c.626A>C
c.7606A>C (p.Met2536Leu)
c.7576A>C (p.Met2526Leu)
c.7513A>C (p.Met2505Leu)
c.6511A>C (p.Met2171Leu)
c.959A>C
c.7712A>C (n.7712A>C)
c.600+2057A>C
c.7567A>C (p.Met2523Leu)
c.7543A>C (p.Met2515Leu)
c.7603A>C (p.Met2535Leu)
 dbSNP
17g.31352375A>GCA399017754NF1c.7558A>G (p.Met2520Val)
c.2140A>G (p.Met714Val)
c.1732A>G (p.Met578Val)
n.4221A>G
c.626A>G
c.7606A>G (p.Met2536Val)
c.7576A>G (p.Met2526Val)
c.7513A>G (p.Met2505Val)
c.6511A>G (p.Met2171Val)
c.959A>G
c.7712A>G (n.7712A>G)
c.600+2057A>G
c.7567A>G (p.Met2523Val)
c.7543A>G (p.Met2515Val)
c.7603A>G (p.Met2535Val)
 gnomAD v4
17g.31352375A>TCA399017755NF1c.7558A>T (p.Met2520Leu)
c.2140A>T (p.Met714Leu)
c.1732A>T (p.Met578Leu)
n.4221A>T
c.626A>T
c.7606A>T (p.Met2536Leu)
c.7576A>T (p.Met2526Leu)
c.7513A>T (p.Met2505Leu)
c.6511A>T (p.Met2171Leu)
c.959A>T
c.7712A>T (n.7712A>T)
c.600+2057A>T
c.7567A>T (p.Met2523Leu)
c.7543A>T (p.Met2515Leu)
c.7603A>T (p.Met2535Leu)
 dbSNP
17g.31352376T>ACA399017757NF1c.7559T>A (p.Met2520Lys)
c.2141T>A (p.Met714Lys)
c.1733T>A (p.Met578Lys)
n.4222T>A
c.627T>A
c.7607T>A (p.Met2536Lys)
c.7577T>A (p.Met2526Lys)
c.7514T>A (p.Met2505Lys)
c.6512T>A (p.Met2171Lys)
c.960T>A
c.7713T>A (n.7713T>A)
c.600+2058T>A
c.7568T>A (p.Met2523Lys)
c.7544T>A (p.Met2515Lys)
c.7604T>A (p.Met2535Lys)
17g.31352376T>CCA399017760NF1c.7559T>C (p.Met2520Thr)
c.2141T>C (p.Met714Thr)
c.1733T>C (p.Met578Thr)
n.4222T>C
c.627T>C
c.7607T>C (p.Met2536Thr)
c.7577T>C (p.Met2526Thr)
c.7514T>C (p.Met2505Thr)
c.6512T>C (p.Met2171Thr)
c.960T>C
c.7713T>C (n.7713T>C)
c.600+2058T>C
c.7568T>C (p.Met2523Thr)
c.7544T>C (p.Met2515Thr)
c.7604T>C (p.Met2535Thr)
17g.31352376T>GCA399017758NF1c.7559T>G (p.Met2520Arg)
c.2141T>G (p.Met714Arg)
c.1733T>G (p.Met578Arg)
n.4222T>G
c.627T>G
c.7607T>G (p.Met2536Arg)
c.7577T>G (p.Met2526Arg)
c.7514T>G (p.Met2505Arg)
c.6512T>G (p.Met2171Arg)
c.960T>G
c.7713T>G (n.7713T>G)
c.600+2058T>G
c.7568T>G (p.Met2523Arg)
c.7544T>G (p.Met2515Arg)
c.7604T>G (p.Met2535Arg)
17g.31352376dupCA16620376NF1c.7559dup (p.Met2520IlefsTer10)
c.2141dup (p.Met714IlefsTer10)
c.1733dup (p.Met578IlefsTer10)
n.4222dup
c.627dup
c.7607dup (p.Met2536IlefsTer10)
c.7577dup (p.Met2526IlefsTer10)
c.7514dup (p.Met2505IlefsTer10)
c.6512dup (p.Met2171IlefsTer10)
c.960dup
c.7713dup (n.7713dup)
c.600+2058dup
c.7568dup (p.Met2523IlefsTer10)
c.7544dup (p.Met2515IlefsTer10)
c.7604dup (p.Met2535IlefsTer10)
 ClinVar dbSNP
17g.31352376_31352377delinsTGCA2255610137NF1c.7559_7560delinsTG (p.Met2520=)
c.2141_2142delinsTG (p.Met714=)
c.1733_1734delinsTG (p.Met578=)
n.4222_4223delinsTG
c.627_628delinsTG
c.7607_7608delinsTG (p.Met2536=)
c.7577_7578delinsTG (p.Met2526=)
c.7514_7515delinsTG (p.Met2505=)
c.6512_6513delinsTG (p.Met2171=)
c.960_961delinsTG
c.7713_7714delinsTG (n.7713_7714delinsTG)
c.600+2058_600+2059delinsTG
c.7568_7569delinsTG (p.Met2523=)
c.7544_7545delinsTG (p.Met2515=)
c.7604_7605delinsTG (p.Met2535=)
17g.31352377G>ACA399017762NF1c.7560G>A (p.Met2520Ile)
c.2142G>A (p.Met714Ile)
c.1734G>A (p.Met578Ile)
n.4223G>A
c.628G>A
c.7608G>A (p.Met2536Ile)
c.7578G>A (p.Met2526Ile)
c.7515G>A (p.Met2505Ile)
c.6513G>A (p.Met2171Ile)
c.961G>A
c.7714G>A (n.7714G>A)
c.600+2059G>A
c.7569G>A (p.Met2523Ile)
c.7545G>A (p.Met2515Ile)
c.7605G>A (p.Met2535Ile)
 dbSNP
17g.31352377G>CCA399017763NF1c.7560G>C (p.Met2520Ile)
c.2142G>C (p.Met714Ile)
c.1734G>C (p.Met578Ile)
n.4223G>C
c.628G>C
c.7608G>C (p.Met2536Ile)
c.7578G>C (p.Met2526Ile)
c.7515G>C (p.Met2505Ile)
c.6513G>C (p.Met2171Ile)
c.961G>C
c.7714G>C (n.7714G>C)
c.600+2059G>C
c.7569G>C (p.Met2523Ile)
c.7545G>C (p.Met2515Ile)
c.7605G>C (p.Met2535Ile)
 dbSNP
17g.31352377G>TCA399017765NF1c.7560G>T (p.Met2520Ile)
c.2142G>T (p.Met714Ile)
c.1734G>T (p.Met578Ile)
n.4223G>T
c.628G>T
c.7608G>T (p.Met2536Ile)
c.7578G>T (p.Met2526Ile)
c.7515G>T (p.Met2505Ile)
c.6513G>T (p.Met2171Ile)
c.961G>T
c.7714G>T (n.7714G>T)
c.600+2059G>T
c.7569G>T (p.Met2523Ile)
c.7545G>T (p.Met2515Ile)
c.7605G>T (p.Met2535Ile)
 dbSNP
17g.31352380delCA10583527NF1c.7563del (p.Gln2522AsnfsTer20)
c.2145del (p.Gln716AsnfsTer20)
c.1737del (p.Gln580AsnfsTer20)
n.4226del
c.631del
c.7611del (p.Gln2538AsnfsTer20)
c.7581del (p.Gln2528AsnfsTer20)
c.7518del (p.Gln2507AsnfsTer20)
c.6516del (p.Gln2173AsnfsTer20)
c.964del
c.7717del (n.7717del)
c.600+2062del
c.7572del (p.Gln2525AsnfsTer20)
c.7548del (p.Gln2517AsnfsTer20)
c.7608del (p.Gln2537AsnfsTer20)
c.7611del (p.Gln2538AsnfsTer?)
 ClinVar dbSNP
17g.31352379_31352380delCA2733213185NF1c.7562_7563del (p.Gly2521AlafsTer8)
c.2144_2145del (p.Gly715AlafsTer8)
c.1736_1737del (p.Gly579AlafsTer8)
n.4225_4226del
c.630_631del
c.7610_7611del (p.Gly2537AlafsTer8)
c.7580_7581del (p.Gly2527AlafsTer8)
c.7517_7518del (p.Gly2506AlafsTer8)
c.6515_6516del (p.Gly2172AlafsTer8)
c.963_964del
c.7716_7717del (n.7716_7717del)
c.600+2061_600+2062del
c.7571_7572del (p.Gly2524AlafsTer8)
c.7547_7548del (p.Gly2516AlafsTer8)
c.7607_7608del (p.Gly2536AlafsTer8)
 dbSNP
17g.31352377_31352390dupCA2695225514NF1c.7560_7573dup (p.Gln2525ArgfsTer22)
c.2142_2155dup (p.Gln719ArgfsTer22)
c.1734_1747dup (p.Gln583ArgfsTer22)
n.4223_4236dup
c.628_641dup
c.7608_7621dup (p.Gln2541ArgfsTer22)
c.7578_7591dup (p.Gln2531ArgfsTer22)
c.7515_7528dup (p.Gln2510ArgfsTer22)
c.6513_6526dup (p.Gln2176ArgfsTer22)
c.961_974dup
c.7714_7727dup (n.7714_7727dup)
c.600+2059_600+2072dup
c.7569_7582dup (p.Gln2528ArgfsTer22)
c.7545_7558dup (p.Gln2520ArgfsTer22)
c.7605_7618dup (p.Gln2540ArgfsTer22)
c.7608_7621dup (p.Gln2541ArgfsTer?)
17g.31352378G>ACA399017767NF1c.7561G>A (p.Gly2521Arg)
c.2143G>A (p.Gly715Arg)
c.1735G>A (p.Gly579Arg)
n.4224G>A
c.629G>A
c.7609G>A (p.Gly2537Arg)
c.7579G>A (p.Gly2527Arg)
c.7516G>A (p.Gly2506Arg)
c.6514G>A (p.Gly2172Arg)
c.962G>A
c.7715G>A (n.7715G>A)
c.600+2060G>A
c.7570G>A (p.Gly2524Arg)
c.7546G>A (p.Gly2516Arg)
c.7606G>A (p.Gly2536Arg)
 ClinVar dbSNP
17g.31352378G>CCA399017768NF1c.7561G>C (p.Gly2521Arg)
c.2143G>C (p.Gly715Arg)
c.1735G>C (p.Gly579Arg)
n.4224G>C
c.629G>C
c.7609G>C (p.Gly2537Arg)
c.7579G>C (p.Gly2527Arg)
c.7516G>C (p.Gly2506Arg)
c.6514G>C (p.Gly2172Arg)
c.962G>C
c.7715G>C (n.7715G>C)
c.600+2060G>C
c.7570G>C (p.Gly2524Arg)
c.7546G>C (p.Gly2516Arg)
c.7606G>C (p.Gly2536Arg)
 dbSNP
17g.31352378G>TCA399017769NF1c.7561G>T (p.Gly2521Trp)
c.2143G>T (p.Gly715Trp)
c.1735G>T (p.Gly579Trp)
n.4224G>T
c.629G>T
c.7609G>T (p.Gly2537Trp)
c.7579G>T (p.Gly2527Trp)
c.7516G>T (p.Gly2506Trp)
c.6514G>T (p.Gly2172Trp)
c.962G>T
c.7715G>T (n.7715G>T)
c.600+2060G>T
c.7570G>T (p.Gly2524Trp)
c.7546G>T (p.Gly2516Trp)
c.7606G>T (p.Gly2536Trp)
 dbSNP
17g.31352379G>ACA399017771NF1c.7562G>A (p.Gly2521Glu)
c.2144G>A (p.Gly715Glu)
c.1736G>A (p.Gly579Glu)
n.4225G>A
c.630G>A
c.7610G>A (p.Gly2537Glu)
c.7580G>A (p.Gly2527Glu)
c.7517G>A (p.Gly2506Glu)
c.6515G>A (p.Gly2172Glu)
c.963G>A
c.7716G>A (n.7716G>A)
c.600+2061G>A
c.7571G>A (p.Gly2524Glu)
c.7547G>A (p.Gly2516Glu)
c.7607G>A (p.Gly2536Glu)
 ClinVar dbSNP
17g.31352379G>CCA399017773NF1c.7562G>C (p.Gly2521Ala)
c.2144G>C (p.Gly715Ala)
c.1736G>C (p.Gly579Ala)
n.4225G>C
c.630G>C
c.7610G>C (p.Gly2537Ala)
c.7580G>C (p.Gly2527Ala)
c.7517G>C (p.Gly2506Ala)
c.6515G>C (p.Gly2172Ala)
c.963G>C
c.7716G>C (n.7716G>C)
c.600+2061G>C
c.7571G>C (p.Gly2524Ala)
c.7547G>C (p.Gly2516Ala)
c.7607G>C (p.Gly2536Ala)
 dbSNP
17g.31352379G>TCA399017774NF1c.7562G>T (p.Gly2521Val)
c.2144G>T (p.Gly715Val)
c.1736G>T (p.Gly579Val)
n.4225G>T
c.630G>T
c.7610G>T (p.Gly2537Val)
c.7580G>T (p.Gly2527Val)
c.7517G>T (p.Gly2506Val)
c.6515G>T (p.Gly2172Val)
c.963G>T
c.7716G>T (n.7716G>T)
c.600+2061G>T
c.7571G>T (p.Gly2524Val)
c.7547G>T (p.Gly2516Val)
c.7607G>T (p.Gly2536Val)
 COSMIC COSMIC
17g.31352380G>ACA499239307NF1c.7563G>A (p.Gly2521=)
c.2145G>A (p.Gly715=)
c.1737G>A (p.Gly579=)
n.4226G>A
c.631G>A
c.7611G>A (p.Gly2537=)
c.7581G>A (p.Gly2527=)
c.7518G>A (p.Gly2506=)
c.6516G>A (p.Gly2172=)
c.964G>A
c.7717G>A (n.7717G>A)
c.600+2062G>A
c.7572G>A (p.Gly2524=)
c.7548G>A (p.Gly2516=)
c.7608G>A (p.Gly2536=)
 dbSNP
17g.31352380G>CCA499239308NF1c.7563G>C (p.Gly2521=)
c.2145G>C (p.Gly715=)
c.1737G>C (p.Gly579=)
n.4226G>C
c.631G>C
c.7611G>C (p.Gly2537=)
c.7581G>C (p.Gly2527=)
c.7518G>C (p.Gly2506=)
c.6516G>C (p.Gly2172=)
c.964G>C
c.7717G>C (n.7717G>C)
c.600+2062G>C
c.7572G>C (p.Gly2524=)
c.7548G>C (p.Gly2516=)
c.7608G>C (p.Gly2536=)
 ClinVar dbSNP
17g.31352380G=CA2255610144NF1c.7563G= (p.Gly2521=)
c.2145G= (p.Gly715=)
c.1737G= (p.Gly579=)
n.4226G=
c.631G=
c.7611G= (p.Gly2537=)
c.7581G= (p.Gly2527=)
c.7518G= (p.Gly2506=)
c.6516G= (p.Gly2172=)
c.964G=
c.7717G= (n.7717G=)
c.600+2062G=
c.7572G= (p.Gly2524=)
c.7548G= (p.Gly2516=)
c.7608G= (p.Gly2536=)
17g.31352380G>TCA499239309NF1c.7563G>T (p.Gly2521=)
c.2145G>T (p.Gly715=)
c.1737G>T (p.Gly579=)
n.4226G>T
c.631G>T
c.7611G>T (p.Gly2537=)
c.7581G>T (p.Gly2527=)
c.7518G>T (p.Gly2506=)
c.6516G>T (p.Gly2172=)
c.964G>T
c.7717G>T (n.7717G>T)
c.600+2062G>T
c.7572G>T (p.Gly2524=)
c.7548G>T (p.Gly2516=)
c.7608G>T (p.Gly2536=)
 dbSNP
17g.31352381delCA2580093423NF1c.7564del (p.Gln2522AsnfsTer20)
c.2146del (p.Gln716AsnfsTer20)
c.1738del (p.Gln580AsnfsTer20)
n.4227del
c.632del
c.7612del (p.Gln2538AsnfsTer20)
c.7582del (p.Gln2528AsnfsTer20)
c.7519del (p.Gln2507AsnfsTer20)
c.6517del (p.Gln2173AsnfsTer20)
c.965del
c.7718del (n.7718del)
c.600+2063del
c.7573del (p.Gln2525AsnfsTer20)
c.7549del (p.Gln2517AsnfsTer20)
c.7609del (p.Gln2537AsnfsTer20)
c.7612del (p.Gln2538AsnfsTer?)
 ClinVar
17g.31352381C>ACA399017779NF1c.7564C>A (p.Gln2522Lys)
c.2146C>A (p.Gln716Lys)
c.1738C>A (p.Gln580Lys)
n.4227C>A
c.632C>A
c.7612C>A (p.Gln2538Lys)
c.7582C>A (p.Gln2528Lys)
c.7519C>A (p.Gln2507Lys)
c.6517C>A (p.Gln2173Lys)
c.965C>A
c.7718C>A (n.7718C>A)
c.600+2063C>A
c.7573C>A (p.Gln2525Lys)
c.7549C>A (p.Gln2517Lys)
c.7609C>A (p.Gln2537Lys)
17g.31352381C=CA2255610149NF1c.7564C= (p.Gln2522=)
c.2146C= (p.Gln716=)
c.1738C= (p.Gln580=)
n.4227C=
c.632C=
c.7612C= (p.Gln2538=)
c.7582C= (p.Gln2528=)
c.7519C= (p.Gln2507=)
c.6517C= (p.Gln2173=)
c.965C=
c.7718C= (n.7718C=)
c.600+2063C=
c.7573C= (p.Gln2525=)
c.7549C= (p.Gln2517=)
c.7609C= (p.Gln2537=)
17g.31352381C>GCA399017777NF1c.7564C>G (p.Gln2522Glu)
c.2146C>G (p.Gln716Glu)
c.1738C>G (p.Gln580Glu)
n.4227C>G
c.632C>G
c.7612C>G (p.Gln2538Glu)
c.7582C>G (p.Gln2528Glu)
c.7519C>G (p.Gln2507Glu)
c.6517C>G (p.Gln2173Glu)
c.965C>G
c.7718C>G (n.7718C>G)
c.600+2063C>G
c.7573C>G (p.Gln2525Glu)
c.7549C>G (p.Gln2517Glu)
c.7609C>G (p.Gln2537Glu)
 dbSNP
17g.31352381C>TCA399017776NF1c.7564C>T (p.Gln2522Ter)
c.2146C>T (p.Gln716Ter)
c.1738C>T (p.Gln580Ter)
n.4227C>T
c.632C>T
c.7612C>T (p.Gln2538Ter)
c.7582C>T (p.Gln2528Ter)
c.7519C>T (p.Gln2507Ter)
c.6517C>T (p.Gln2173Ter)
c.965C>T
c.7718C>T (n.7718C>T)
c.600+2063C>T
c.7573C>T (p.Gln2525Ter)
c.7549C>T (p.Gln2517Ter)
c.7609C>T (p.Gln2537Ter)
 ClinVar dbSNP COSMIC
17g.31352382A>CCA399017781NF1c.7565A>C (p.Gln2522Pro)
c.2147A>C (p.Gln716Pro)
c.1739A>C (p.Gln580Pro)
n.4228A>C
c.633A>C
c.7613A>C (p.Gln2538Pro)
c.7583A>C (p.Gln2528Pro)
c.7520A>C (p.Gln2507Pro)
c.6518A>C (p.Gln2173Pro)
c.966A>C
c.7719A>C (n.7719A>C)
c.600+2064A>C
c.7574A>C (p.Gln2525Pro)
c.7550A>C (p.Gln2517Pro)
c.7610A>C (p.Gln2537Pro)
17g.31352382A>GCA399017784NF1c.7565A>G (p.Gln2522Arg)
c.2147A>G (p.Gln716Arg)
c.1739A>G (p.Gln580Arg)
n.4228A>G
c.633A>G
c.7613A>G (p.Gln2538Arg)
c.7583A>G (p.Gln2528Arg)
c.7520A>G (p.Gln2507Arg)
c.6518A>G (p.Gln2173Arg)
c.966A>G
c.7719A>G (n.7719A>G)
c.600+2064A>G
c.7574A>G (p.Gln2525Arg)
c.7550A>G (p.Gln2517Arg)
c.7610A>G (p.Gln2537Arg)
17g.31352382A>TCA399017783NF1c.7565A>T (p.Gln2522Leu)
c.2147A>T (p.Gln716Leu)
c.1739A>T (p.Gln580Leu)
n.4228A>T
c.633A>T
c.7613A>T (p.Gln2538Leu)
c.7583A>T (p.Gln2528Leu)
c.7520A>T (p.Gln2507Leu)
c.6518A>T (p.Gln2173Leu)
c.966A>T
c.7719A>T (n.7719A>T)
c.600+2064A>T
c.7574A>T (p.Gln2525Leu)
c.7550A>T (p.Gln2517Leu)
c.7610A>T (p.Gln2537Leu)
 dbSNP
17g.31352383A=CA2255610153NF1c.7566A= (p.Gln2522=)
c.2148A= (p.Gln716=)
c.1740A= (p.Gln580=)
n.4229A=
c.634A=
c.7614A= (p.Gln2538=)
c.7584A= (p.Gln2528=)
c.7521A= (p.Gln2507=)
c.6519A= (p.Gln2173=)
c.967A=
c.7720A= (n.7720A=)
c.600+2065A=
c.7575A= (p.Gln2525=)
c.7551A= (p.Gln2517=)
c.7611A= (p.Gln2537=)
17g.31352383A>CCA399017786NF1c.7566A>C (p.Gln2522His)
c.2148A>C (p.Gln716His)
c.1740A>C (p.Gln580His)
n.4229A>C
c.634A>C
c.7614A>C (p.Gln2538His)
c.7584A>C (p.Gln2528His)
c.7521A>C (p.Gln2507His)
c.6519A>C (p.Gln2173His)
c.967A>C
c.7720A>C (n.7720A>C)
c.600+2065A>C
c.7575A>C (p.Gln2525His)
c.7551A>C (p.Gln2517His)
c.7611A>C (p.Gln2537His)
 dbSNP gnomAD v4
17g.31352383A>GCA188000NF1c.7566A>G (p.Gln2522=)
c.2148A>G (p.Gln716=)
c.1740A>G (p.Gln580=)
n.4229A>G
c.634A>G
c.7614A>G (p.Gln2538=)
c.7584A>G (p.Gln2528=)
c.7521A>G (p.Gln2507=)
c.6519A>G (p.Gln2173=)
c.967A>G
c.7720A>G (n.7720A>G)
c.600+2065A>G
c.7575A>G (p.Gln2525=)
c.7551A>G (p.Gln2517=)
c.7611A>G (p.Gln2537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352383A>TCA399017788NF1c.7566A>T (p.Gln2522His)
c.2148A>T (p.Gln716His)
c.1740A>T (p.Gln580His)
n.4229A>T
c.634A>T
c.7614A>T (p.Gln2538His)
c.7584A>T (p.Gln2528His)
c.7521A>T (p.Gln2507His)
c.6519A>T (p.Gln2173His)
c.967A>T
c.7720A>T (n.7720A>T)
c.600+2065A>T
c.7575A>T (p.Gln2525His)
c.7551A>T (p.Gln2517His)
c.7611A>T (p.Gln2537His)
 dbSNP
17g.31352384C>ACA399017789NF1c.7567C>A (p.Pro2523Thr)
c.2149C>A (p.Pro717Thr)
c.1741C>A (p.Pro581Thr)
n.4230C>A
c.635C>A
c.7615C>A (p.Pro2539Thr)
c.7585C>A (p.Pro2529Thr)
c.7522C>A (p.Pro2508Thr)
c.6520C>A (p.Pro2174Thr)
c.968C>A
c.7721C>A (n.7721C>A)
c.600+2066C>A
c.7576C>A (p.Pro2526Thr)
c.7552C>A (p.Pro2518Thr)
c.7612C>A (p.Pro2538Thr)
 dbSNP
17g.31352384C=CA2255610157NF1c.7567C= (p.Pro2523=)
c.2149C= (p.Pro717=)
c.1741C= (p.Pro581=)
n.4230C=
c.635C=
c.7615C= (p.Pro2539=)
c.7585C= (p.Pro2529=)
c.7522C= (p.Pro2508=)
c.6520C= (p.Pro2174=)
c.968C=
c.7721C= (n.7721C=)
c.600+2066C=
c.7576C= (p.Pro2526=)
c.7552C= (p.Pro2518=)
c.7612C= (p.Pro2538=)
17g.31352384C>GCA399017791NF1c.7567C>G (p.Pro2523Ala)
c.2149C>G (p.Pro717Ala)
c.1741C>G (p.Pro581Ala)
n.4230C>G
c.635C>G
c.7615C>G (p.Pro2539Ala)
c.7585C>G (p.Pro2529Ala)
c.7522C>G (p.Pro2508Ala)
c.6520C>G (p.Pro2174Ala)
c.968C>G
c.7721C>G (n.7721C>G)
c.600+2066C>G
c.7576C>G (p.Pro2526Ala)
c.7552C>G (p.Pro2518Ala)
c.7612C>G (p.Pro2538Ala)
 dbSNP
17g.31352384C>TCA399017793NF1c.7567C>T (p.Pro2523Ser)
c.2149C>T (p.Pro717Ser)
c.1741C>T (p.Pro581Ser)
n.4230C>T
c.635C>T
c.7615C>T (p.Pro2539Ser)
c.7585C>T (p.Pro2529Ser)
c.7522C>T (p.Pro2508Ser)
c.6520C>T (p.Pro2174Ser)
c.968C>T
c.7721C>T (n.7721C>T)
c.600+2066C>T
c.7576C>T (p.Pro2526Ser)
c.7552C>T (p.Pro2518Ser)
c.7612C>T (p.Pro2538Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.31352385C>ACA399017795NF1c.7568C>A (p.Pro2523His)
c.2150C>A (p.Pro717His)
c.1742C>A (p.Pro581His)
n.4231C>A
c.636C>A
c.7616C>A (p.Pro2539His)
c.7586C>A (p.Pro2529His)
c.7523C>A (p.Pro2508His)
c.6521C>A (p.Pro2174His)
c.969C>A
c.7722C>A (n.7722C>A)
c.600+2067C>A
c.7577C>A (p.Pro2526His)
c.7553C>A (p.Pro2518His)
c.7613C>A (p.Pro2538His)
17g.31352385C>GCA399017796NF1c.7568C>G (p.Pro2523Arg)
c.2150C>G (p.Pro717Arg)
c.1742C>G (p.Pro581Arg)
n.4231C>G
c.636C>G
c.7616C>G (p.Pro2539Arg)
c.7586C>G (p.Pro2529Arg)
c.7523C>G (p.Pro2508Arg)
c.6521C>G (p.Pro2174Arg)
c.969C>G
c.7722C>G (n.7722C>G)
c.600+2067C>G
c.7577C>G (p.Pro2526Arg)
c.7553C>G (p.Pro2518Arg)
c.7613C>G (p.Pro2538Arg)
17g.31352385C>TCA399017798NF1c.7568C>T (p.Pro2523Leu)
c.2150C>T (p.Pro717Leu)
c.1742C>T (p.Pro581Leu)
n.4231C>T
c.636C>T
c.7616C>T (p.Pro2539Leu)
c.7586C>T (p.Pro2529Leu)
c.7523C>T (p.Pro2508Leu)
c.6521C>T (p.Pro2174Leu)
c.969C>T
c.7722C>T (n.7722C>T)
c.600+2067C>T
c.7577C>T (p.Pro2526Leu)
c.7553C>T (p.Pro2518Leu)
c.7613C>T (p.Pro2538Leu)
 dbSNP
17g.31352385_31352386delinsCTCA2255610161NF1c.7568_7569delinsCT (p.Pro2523=)
c.2150_2151delinsCT (p.Pro717=)
c.1742_1743delinsCT (p.Pro581=)
n.4231_4232delinsCT
c.636_637delinsCT
c.7616_7617delinsCT (p.Pro2539=)
c.7586_7587delinsCT (p.Pro2529=)
c.7523_7524delinsCT (p.Pro2508=)
c.6521_6522delinsCT (p.Pro2174=)
c.969_970delinsCT
c.7722_7723delinsCT (n.7722_7723delinsCT)
c.600+2067_600+2068delinsCT
c.7577_7578delinsCT (p.Pro2526=)
c.7553_7554delinsCT (p.Pro2518=)
c.7613_7614delinsCT (p.Pro2538=)
17g.31352386T>ACA499239310NF1c.7569T>A (p.Pro2523=)
c.2151T>A (p.Pro717=)
c.1743T>A (p.Pro581=)
n.4232T>A
c.637T>A
c.7617T>A (p.Pro2539=)
c.7587T>A (p.Pro2529=)
c.7524T>A (p.Pro2508=)
c.6522T>A (p.Pro2174=)
c.970T>A
c.7723T>A (n.7723T>A)
c.600+2068T>A
c.7578T>A (p.Pro2526=)
c.7554T>A (p.Pro2518=)
c.7614T>A (p.Pro2538=)
17g.31352386T>CCA499239311NF1c.7569T>C (p.Pro2523=)
c.2151T>C (p.Pro717=)
c.1743T>C (p.Pro581=)
n.4232T>C
c.637T>C
c.7617T>C (p.Pro2539=)
c.7587T>C (p.Pro2529=)
c.7524T>C (p.Pro2508=)
c.6522T>C (p.Pro2174=)
c.970T>C
c.7723T>C (n.7723T>C)
c.600+2068T>C
c.7578T>C (p.Pro2526=)
c.7554T>C (p.Pro2518=)
c.7614T>C (p.Pro2538=)
17g.31352386T>GCA499239312NF1c.7569T>G (p.Pro2523=)
c.2151T>G (p.Pro717=)
c.1743T>G (p.Pro581=)
n.4232T>G
c.637T>G
c.7617T>G (p.Pro2539=)
c.7587T>G (p.Pro2529=)
c.7524T>G (p.Pro2508=)
c.6522T>G (p.Pro2174=)
c.970T>G
c.7723T>G (n.7723T>G)
c.600+2068T>G
c.7578T>G (p.Pro2526=)
c.7554T>G (p.Pro2518=)
c.7614T>G (p.Pro2538=)
 ClinVar
17g.31352387delCA625474730NF1c.7570del (p.Ser2524LeufsTer18)
c.2152del (p.Ser718LeufsTer18)
c.1744del (p.Ser582LeufsTer18)
n.4233del
c.638del
c.7618del (p.Ser2540LeufsTer18)
c.7588del (p.Ser2530LeufsTer18)
c.7525del (p.Ser2509LeufsTer18)
c.6523del (p.Ser2175LeufsTer18)
c.971del
c.7724del (n.7724del)
c.600+2069del
c.7579del (p.Ser2527LeufsTer18)
c.7555del (p.Ser2519LeufsTer18)
c.7615del (p.Ser2539LeufsTer18)
c.7618del (p.Ser2540LeufsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.31352387T>ACA399017800NF1c.7570T>A (p.Ser2524Thr)
c.2152T>A (p.Ser718Thr)
c.1744T>A (p.Ser582Thr)
n.4233T>A
c.638T>A
c.7618T>A (p.Ser2540Thr)
c.7588T>A (p.Ser2530Thr)
c.7525T>A (p.Ser2509Thr)
c.6523T>A (p.Ser2175Thr)
c.971T>A
c.7724T>A (n.7724T>A)
c.600+2069T>A
c.7579T>A (p.Ser2527Thr)
c.7555T>A (p.Ser2519Thr)
c.7615T>A (p.Ser2539Thr)
 dbSNP
17g.31352387T>CCA399017801NF1c.7570T>C (p.Ser2524Pro)
c.2152T>C (p.Ser718Pro)
c.1744T>C (p.Ser582Pro)
n.4233T>C
c.638T>C
c.7618T>C (p.Ser2540Pro)
c.7588T>C (p.Ser2530Pro)
c.7525T>C (p.Ser2509Pro)
c.6523T>C (p.Ser2175Pro)
c.971T>C
c.7724T>C (n.7724T>C)
c.600+2069T>C
c.7579T>C (p.Ser2527Pro)
c.7555T>C (p.Ser2519Pro)
c.7615T>C (p.Ser2539Pro)
 ClinVar dbSNP
17g.31352387T>GCA399017803NF1c.7570T>G (p.Ser2524Ala)
c.2152T>G (p.Ser718Ala)
c.1744T>G (p.Ser582Ala)
n.4233T>G
c.638T>G
c.7618T>G (p.Ser2540Ala)
c.7588T>G (p.Ser2530Ala)
c.7525T>G (p.Ser2509Ala)
c.6523T>G (p.Ser2175Ala)
c.971T>G
c.7724T>G (n.7724T>G)
c.600+2069T>G
c.7579T>G (p.Ser2527Ala)
c.7555T>G (p.Ser2519Ala)
c.7615T>G (p.Ser2539Ala)
17g.31352387T=CA2255610165NF1c.7570T= (p.Ser2524=)
c.2152T= (p.Ser718=)
c.1744T= (p.Ser582=)
n.4233T=
c.638T=
c.7618T= (p.Ser2540=)
c.7588T= (p.Ser2530=)
c.7525T= (p.Ser2509=)
c.6523T= (p.Ser2175=)
c.971T=
c.7724T= (n.7724T=)
c.600+2069T=
c.7579T= (p.Ser2527=)
c.7555T= (p.Ser2519=)
c.7615T= (p.Ser2539=)
17g.31352388C>ACA399017805NF1c.7571C>A (p.Ser2524Tyr)
c.2153C>A (p.Ser718Tyr)
c.1745C>A (p.Ser582Tyr)
n.4234C>A
c.639C>A
c.7619C>A (p.Ser2540Tyr)
c.7589C>A (p.Ser2530Tyr)
c.7526C>A (p.Ser2509Tyr)
c.6524C>A (p.Ser2175Tyr)
c.972C>A
c.7725C>A (n.7725C>A)
c.600+2070C>A
c.7580C>A (p.Ser2527Tyr)
c.7556C>A (p.Ser2519Tyr)
c.7616C>A (p.Ser2539Tyr)
 dbSNP
17g.31352388C>GCA399017806NF1c.7571C>G (p.Ser2524Cys)
c.2153C>G (p.Ser718Cys)
c.1745C>G (p.Ser582Cys)
n.4234C>G
c.639C>G
c.7619C>G (p.Ser2540Cys)
c.7589C>G (p.Ser2530Cys)
c.7526C>G (p.Ser2509Cys)
c.6524C>G (p.Ser2175Cys)
c.972C>G
c.7725C>G (n.7725C>G)
c.600+2070C>G
c.7580C>G (p.Ser2527Cys)
c.7556C>G (p.Ser2519Cys)
c.7616C>G (p.Ser2539Cys)
 dbSNP
17g.31352388C>TCA399017807NF1c.7571C>T (p.Ser2524Phe)
c.2153C>T (p.Ser718Phe)
c.1745C>T (p.Ser582Phe)
n.4234C>T
c.639C>T
c.7619C>T (p.Ser2540Phe)
c.7589C>T (p.Ser2530Phe)
c.7526C>T (p.Ser2509Phe)
c.6524C>T (p.Ser2175Phe)
c.972C>T
c.7725C>T (n.7725C>T)
c.600+2070C>T
c.7580C>T (p.Ser2527Phe)
c.7556C>T (p.Ser2519Phe)
c.7616C>T (p.Ser2539Phe)
 dbSNP
17g.31352389T>ACA499239313NF1c.7572T>A (p.Ser2524=)
c.2154T>A (p.Ser718=)
c.1746T>A (p.Ser582=)
n.4235T>A
c.640T>A
c.7620T>A (p.Ser2540=)
c.7590T>A (p.Ser2530=)
c.7527T>A (p.Ser2509=)
c.6525T>A (p.Ser2175=)
c.973T>A
c.7726T>A (n.7726T>A)
c.600+2071T>A
c.7581T>A (p.Ser2527=)
c.7557T>A (p.Ser2519=)
c.7617T>A (p.Ser2539=)
 dbSNP
17g.31352389T>CCA499239314NF1c.7572T>C (p.Ser2524=)
c.2154T>C (p.Ser718=)
c.1746T>C (p.Ser582=)
n.4235T>C
c.640T>C
c.7620T>C (p.Ser2540=)
c.7590T>C (p.Ser2530=)
c.7527T>C (p.Ser2509=)
c.6525T>C (p.Ser2175=)
c.973T>C
c.7726T>C (n.7726T>C)
c.600+2071T>C
c.7581T>C (p.Ser2527=)
c.7557T>C (p.Ser2519=)
c.7617T>C (p.Ser2539=)
 ClinVar dbSNP
17g.31352389T>GCA499239315NF1c.7572T>G (p.Ser2524=)
c.2154T>G (p.Ser718=)
c.1746T>G (p.Ser582=)
n.4235T>G
c.640T>G
c.7620T>G (p.Ser2540=)
c.7590T>G (p.Ser2530=)
c.7527T>G (p.Ser2509=)
c.6525T>G (p.Ser2175=)
c.973T>G
c.7726T>G (n.7726T>G)
c.600+2071T>G
c.7581T>G (p.Ser2527=)
c.7557T>G (p.Ser2519=)
c.7617T>G (p.Ser2539=)
17g.31352389T=CA2255610168NF1c.7572T= (p.Ser2524=)
c.2154T= (p.Ser718=)
c.1746T= (p.Ser582=)
n.4235T=
c.640T=
c.7620T= (p.Ser2540=)
c.7590T= (p.Ser2530=)
c.7527T= (p.Ser2509=)
c.6525T= (p.Ser2175=)
c.973T=
c.7726T= (n.7726T=)
c.600+2071T=
c.7581T= (p.Ser2527=)
c.7557T= (p.Ser2519=)
c.7617T= (p.Ser2539=)
17g.31352390C>ACA399017813NF1c.7573C>A (p.Gln2525Lys)
c.2155C>A (p.Gln719Lys)
c.1747C>A (p.Gln583Lys)
n.4236C>A
c.641C>A
c.7621C>A (p.Gln2541Lys)
c.7591C>A (p.Gln2531Lys)
c.7528C>A (p.Gln2510Lys)
c.6526C>A (p.Gln2176Lys)
c.974C>A
c.7727C>A (n.7727C>A)
c.600+2072C>A
c.7582C>A (p.Gln2528Lys)
c.7558C>A (p.Gln2520Lys)
c.7618C>A (p.Gln2540Lys)
17g.31352390C=CA2255610173NF1c.7573C= (p.Gln2525=)
c.2155C= (p.Gln719=)
c.1747C= (p.Gln583=)
n.4236C=
c.641C=
c.7621C= (p.Gln2541=)
c.7591C= (p.Gln2531=)
c.7528C= (p.Gln2510=)
c.6526C= (p.Gln2176=)
c.974C=
c.7727C= (n.7727C=)
c.600+2072C=
c.7582C= (p.Gln2528=)
c.7558C= (p.Gln2520=)
c.7618C= (p.Gln2540=)
17g.31352390C>GCA399017809NF1c.7573C>G (p.Gln2525Glu)
c.2155C>G (p.Gln719Glu)
c.1747C>G (p.Gln583Glu)
n.4236C>G
c.641C>G
c.7621C>G (p.Gln2541Glu)
c.7591C>G (p.Gln2531Glu)
c.7528C>G (p.Gln2510Glu)
c.6526C>G (p.Gln2176Glu)
c.974C>G
c.7727C>G (n.7727C>G)
c.600+2072C>G
c.7582C>G (p.Gln2528Glu)
c.7558C>G (p.Gln2520Glu)
c.7618C>G (p.Gln2540Glu)
 dbSNP
17g.31352390C>TCA399017811NF1c.7573C>T (p.Gln2525Ter)
c.2155C>T (p.Gln719Ter)
c.1747C>T (p.Gln583Ter)
n.4236C>T
c.641C>T
c.7621C>T (p.Gln2541Ter)
c.7591C>T (p.Gln2531Ter)
c.7528C>T (p.Gln2510Ter)
c.6526C>T (p.Gln2176Ter)
c.974C>T
c.7727C>T (n.7727C>T)
c.600+2072C>T
c.7582C>T (p.Gln2528Ter)
c.7558C>T (p.Gln2520Ter)
c.7618C>T (p.Gln2540Ter)
 ClinVar dbSNP gnomAD v4
17g.31352391delCA2695225515NF1c.7574del (p.Gln2525ArgfsTer17)
c.2156del (p.Gln719ArgfsTer17)
c.1748del (p.Gln583ArgfsTer17)
n.4237del
c.642del
c.7622del (p.Gln2541ArgfsTer17)
c.7592del (p.Gln2531ArgfsTer17)
c.7529del (p.Gln2510ArgfsTer17)
c.6527del (p.Gln2176ArgfsTer17)
c.975del
c.7728del (n.7728del)
c.600+2073del
c.7583del (p.Gln2528ArgfsTer17)
c.7559del (p.Gln2520ArgfsTer17)
c.7619del (p.Gln2540ArgfsTer17)
c.7622del (p.Gln2541ArgfsTer?)
17g.31352391A>CCA399017814NF1c.7574A>C (p.Gln2525Pro)
c.2156A>C (p.Gln719Pro)
c.1748A>C (p.Gln583Pro)
n.4237A>C
c.642A>C
c.7622A>C (p.Gln2541Pro)
c.7592A>C (p.Gln2531Pro)
c.7529A>C (p.Gln2510Pro)
c.6527A>C (p.Gln2176Pro)
c.975A>C
c.7728A>C (n.7728A>C)
c.600+2073A>C
c.7583A>C (p.Gln2528Pro)
c.7559A>C (p.Gln2520Pro)
c.7619A>C (p.Gln2540Pro)
 gnomAD v4
17g.31352391A>GCA399017815NF1c.7574A>G (p.Gln2525Arg)
c.2156A>G (p.Gln719Arg)
c.1748A>G (p.Gln583Arg)
n.4237A>G
c.642A>G
c.7622A>G (p.Gln2541Arg)
c.7592A>G (p.Gln2531Arg)
c.7529A>G (p.Gln2510Arg)
c.6527A>G (p.Gln2176Arg)
c.975A>G
c.7728A>G (n.7728A>G)
c.600+2073A>G
c.7583A>G (p.Gln2528Arg)
c.7559A>G (p.Gln2520Arg)
c.7619A>G (p.Gln2540Arg)
17g.31352391A>TCA399017817NF1c.7574A>T (p.Gln2525Leu)
c.2156A>T (p.Gln719Leu)
c.1748A>T (p.Gln583Leu)
n.4237A>T
c.642A>T
c.7622A>T (p.Gln2541Leu)
c.7592A>T (p.Gln2531Leu)
c.7529A>T (p.Gln2510Leu)
c.6527A>T (p.Gln2176Leu)
c.975A>T
c.7728A>T (n.7728A>T)
c.600+2073A>T
c.7583A>T (p.Gln2528Leu)
c.7559A>T (p.Gln2520Leu)
c.7619A>T (p.Gln2540Leu)
17g.31352392G>ACA499239316NF1c.7575G>A (p.Gln2525=)
c.2157G>A (p.Gln719=)
c.1749G>A (p.Gln583=)
n.4238G>A
c.643G>A
c.7623G>A (p.Gln2541=)
c.7593G>A (p.Gln2531=)
c.7530G>A (p.Gln2510=)
c.6528G>A (p.Gln2176=)
c.976G>A
c.7729G>A (n.7729G>A)
c.600+2074G>A
c.7584G>A (p.Gln2528=)
c.7560G>A (p.Gln2520=)
c.7620G>A (p.Gln2540=)
 dbSNP
17g.31352392G>CCA399017819NF1c.7575G>C (p.Gln2525His)
c.2157G>C (p.Gln719His)
c.1749G>C (p.Gln583His)
n.4238G>C
c.643G>C
c.7623G>C (p.Gln2541His)
c.7593G>C (p.Gln2531His)
c.7530G>C (p.Gln2510His)
c.6528G>C (p.Gln2176His)
c.976G>C
c.7729G>C (n.7729G>C)
c.600+2074G>C
c.7584G>C (p.Gln2528His)
c.7560G>C (p.Gln2520His)
c.7620G>C (p.Gln2540His)
 ClinVar dbSNP
17g.31352392G=CA2255610178NF1c.7575G= (p.Gln2525=)
c.2157G= (p.Gln719=)
c.1749G= (p.Gln583=)
n.4238G=
c.643G=
c.7623G= (p.Gln2541=)
c.7593G= (p.Gln2531=)
c.7530G= (p.Gln2510=)
c.6528G= (p.Gln2176=)
c.976G=
c.7729G= (n.7729G=)
c.600+2074G=
c.7584G= (p.Gln2528=)
c.7560G= (p.Gln2520=)
c.7620G= (p.Gln2540=)
17g.31352392G>TCA399017821NF1c.7575G>T (p.Gln2525His)
c.2157G>T (p.Gln719His)
c.1749G>T (p.Gln583His)
n.4238G>T
c.643G>T
c.7623G>T (p.Gln2541His)
c.7593G>T (p.Gln2531His)
c.7530G>T (p.Gln2510His)
c.6528G>T (p.Gln2176His)
c.976G>T
c.7729G>T (n.7729G>T)
c.600+2074G>T
c.7584G>T (p.Gln2528His)
c.7560G>T (p.Gln2520His)
c.7620G>T (p.Gln2540His)
 dbSNP
17g.31352393delCA2573153852NF1c.7576del (p.Ala2526ProfsTer16)
c.2158del (p.Ala720ProfsTer16)
c.1750del (p.Ala584ProfsTer16)
n.4239del
c.644del
c.7624del (p.Ala2542ProfsTer16)
c.7594del (p.Ala2532ProfsTer16)
c.7531del (p.Ala2511ProfsTer16)
c.6529del (p.Ala2177ProfsTer16)
c.977del
c.7730del (n.7730del)
c.600+2075del
c.7585del (p.Ala2529ProfsTer16)
c.7561del (p.Ala2521ProfsTer16)
c.7621del (p.Ala2541ProfsTer16)
c.7624del (p.Ala2542ProfsTer?)
 ClinVar dbSNP
17g.31352393G>ACA399017822NF1c.7576G>A (p.Ala2526Thr)
c.2158G>A (p.Ala720Thr)
c.1750G>A (p.Ala584Thr)
n.4239G>A
c.644G>A
c.7624G>A (p.Ala2542Thr)
c.7594G>A (p.Ala2532Thr)
c.7531G>A (p.Ala2511Thr)
c.6529G>A (p.Ala2177Thr)
c.977G>A
c.7730G>A (n.7730G>A)
c.600+2075G>A
c.7585G>A (p.Ala2529Thr)
c.7561G>A (p.Ala2521Thr)
c.7621G>A (p.Ala2541Thr)
 ClinVar dbSNP gnomAD v4
17g.31352393G>CCA399017823NF1c.7576G>C (p.Ala2526Pro)
c.2158G>C (p.Ala720Pro)
c.1750G>C (p.Ala584Pro)
n.4239G>C
c.644G>C
c.7624G>C (p.Ala2542Pro)
c.7594G>C (p.Ala2532Pro)
c.7531G>C (p.Ala2511Pro)
c.6529G>C (p.Ala2177Pro)
c.977G>C
c.7730G>C (n.7730G>C)
c.600+2075G>C
c.7585G>C (p.Ala2529Pro)
c.7561G>C (p.Ala2521Pro)
c.7621G>C (p.Ala2541Pro)
 dbSNP
17g.31352393G=CA2255610183NF1c.7576G= (p.Ala2526=)
c.2158G= (p.Ala720=)
c.1750G= (p.Ala584=)
n.4239G=
c.644G=
c.7624G= (p.Ala2542=)
c.7594G= (p.Ala2532=)
c.7531G= (p.Ala2511=)
c.6529G= (p.Ala2177=)
c.977G=
c.7730G= (n.7730G=)
c.600+2075G=
c.7585G= (p.Ala2529=)
c.7561G= (p.Ala2521=)
c.7621G= (p.Ala2541=)
17g.31352393G>TCA399017825NF1c.7576G>T (p.Ala2526Ser)
c.2158G>T (p.Ala720Ser)
c.1750G>T (p.Ala584Ser)
n.4239G>T
c.644G>T
c.7624G>T (p.Ala2542Ser)
c.7594G>T (p.Ala2532Ser)
c.7531G>T (p.Ala2511Ser)
c.6529G>T (p.Ala2177Ser)
c.977G>T
c.7730G>T (n.7730G>T)
c.600+2075G>T
c.7585G>T (p.Ala2529Ser)
c.7561G>T (p.Ala2521Ser)
c.7621G>T (p.Ala2541Ser)
 dbSNP
17g.31352394C>ACA399017827NF1c.7577C>A (p.Ala2526Asp)
c.2159C>A (p.Ala720Asp)
c.1751C>A (p.Ala584Asp)
n.4240C>A
c.645C>A
c.7625C>A (p.Ala2542Asp)
c.7595C>A (p.Ala2532Asp)
c.7532C>A (p.Ala2511Asp)
c.6530C>A (p.Ala2177Asp)
c.978C>A
c.7731C>A (n.7731C>A)
c.600+2076C>A
c.7586C>A (p.Ala2529Asp)
c.7562C>A (p.Ala2521Asp)
c.7622C>A (p.Ala2541Asp)
 dbSNP
17g.31352394C=CA2255610190NF1c.7577C= (p.Ala2526=)
c.2159C= (p.Ala720=)
c.1751C= (p.Ala584=)
n.4240C=
c.645C=
c.7625C= (p.Ala2542=)
c.7595C= (p.Ala2532=)
c.7532C= (p.Ala2511=)
c.6530C= (p.Ala2177=)
c.978C=
c.7731C= (n.7731C=)
c.600+2076C=
c.7586C= (p.Ala2529=)
c.7562C= (p.Ala2521=)
c.7622C= (p.Ala2541=)
17g.31352394C>GCA399017828NF1c.7577C>G (p.Ala2526Gly)
c.2159C>G (p.Ala720Gly)
c.1751C>G (p.Ala584Gly)
n.4240C>G
c.645C>G
c.7625C>G (p.Ala2542Gly)
c.7595C>G (p.Ala2532Gly)
c.7532C>G (p.Ala2511Gly)
c.6530C>G (p.Ala2177Gly)
c.978C>G
c.7731C>G (n.7731C>G)
c.600+2076C>G
c.7586C>G (p.Ala2529Gly)
c.7562C>G (p.Ala2521Gly)
c.7622C>G (p.Ala2541Gly)
 dbSNP
17g.31352394C>TCA166994NF1c.7577C>T (p.Ala2526Val)
c.2159C>T (p.Ala720Val)
c.1751C>T (p.Ala584Val)
n.4240C>T
c.645C>T
c.7625C>T (p.Ala2542Val)
c.7595C>T (p.Ala2532Val)
c.7532C>T (p.Ala2511Val)
c.6530C>T (p.Ala2177Val)
c.978C>T
c.7731C>T (n.7731C>T)
c.600+2076C>T
c.7586C>T (p.Ala2529Val)
c.7562C>T (p.Ala2521Val)
c.7622C>T (p.Ala2541Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352395C>ACA499239317NF1c.7578C>A (p.Ala2526=)
c.2160C>A (p.Ala720=)
c.1752C>A (p.Ala584=)
n.4241C>A
c.646C>A
c.7626C>A (p.Ala2542=)
c.7596C>A (p.Ala2532=)
c.7533C>A (p.Ala2511=)
c.6531C>A (p.Ala2177=)
c.979C>A
c.7732C>A (n.7732C>A)
c.600+2077C>A
c.7587C>A (p.Ala2529=)
c.7563C>A (p.Ala2521=)
c.7623C>A (p.Ala2541=)
 dbSNP
17g.31352395C=CA2255610194NF1c.7578C= (p.Ala2526=)
c.2160C= (p.Ala720=)
c.1752C= (p.Ala584=)
n.4241C=
c.646C=
c.7626C= (p.Ala2542=)
c.7596C= (p.Ala2532=)
c.7533C= (p.Ala2511=)
c.6531C= (p.Ala2177=)
c.979C=
c.7732C= (n.7732C=)
c.600+2077C=
c.7587C= (p.Ala2529=)
c.7563C= (p.Ala2521=)
c.7623C= (p.Ala2541=)
17g.31352395C>GCA499239318NF1c.7578C>G (p.Ala2526=)
c.2160C>G (p.Ala720=)
c.1752C>G (p.Ala584=)
n.4241C>G
c.646C>G
c.7626C>G (p.Ala2542=)
c.7596C>G (p.Ala2532=)
c.7533C>G (p.Ala2511=)
c.6531C>G (p.Ala2177=)
c.979C>G
c.7732C>G (n.7732C>G)
c.600+2077C>G
c.7587C>G (p.Ala2529=)
c.7563C>G (p.Ala2521=)
c.7623C>G (p.Ala2541=)
 ClinVar dbSNP
17g.31352395C>TCA350539NF1c.7578C>T (p.Ala2526=)
c.2160C>T (p.Ala720=)
c.1752C>T (p.Ala584=)
n.4241C>T
c.646C>T
c.7626C>T (p.Ala2542=)
c.7596C>T (p.Ala2532=)
c.7533C>T (p.Ala2511=)
c.6531C>T (p.Ala2177=)
c.979C>T
c.7732C>T (n.7732C>T)
c.600+2077C>T
c.7587C>T (p.Ala2529=)
c.7563C>T (p.Ala2521=)
c.7623C>T (p.Ala2541=)
 ClinVar dbSNP
17g.31352396A>CCA399017834NF1c.7579A>C (p.Asn2527His)
c.2161A>C (p.Asn721His)
c.1753A>C (p.Asn585His)
n.4242A>C
c.647A>C
c.7627A>C (p.Asn2543His)
c.7597A>C (p.Asn2533His)
c.7534A>C (p.Asn2512His)
c.6532A>C (p.Asn2178His)
c.980A>C
c.7733A>C (n.7733A>C)
c.600+2078A>C
c.7588A>C (p.Asn2530His)
c.7564A>C (p.Asn2522His)
c.7624A>C (p.Asn2542His)
 dbSNP
17g.31352396A>GCA399017831NF1c.7579A>G (p.Asn2527Asp)
c.2161A>G (p.Asn721Asp)
c.1753A>G (p.Asn585Asp)
n.4242A>G
c.647A>G
c.7627A>G (p.Asn2543Asp)
c.7597A>G (p.Asn2533Asp)
c.7534A>G (p.Asn2512Asp)
c.6532A>G (p.Asn2178Asp)
c.980A>G
c.7733A>G (n.7733A>G)
c.600+2078A>G
c.7588A>G (p.Asn2530Asp)
c.7564A>G (p.Asn2522Asp)
c.7624A>G (p.Asn2542Asp)
17g.31352396A>TCA399017833NF1c.7579A>T (p.Asn2527Tyr)
c.2161A>T (p.Asn721Tyr)
c.1753A>T (p.Asn585Tyr)
n.4242A>T
c.647A>T
c.7627A>T (p.Asn2543Tyr)
c.7597A>T (p.Asn2533Tyr)
c.7534A>T (p.Asn2512Tyr)
c.6532A>T (p.Asn2178Tyr)
c.980A>T
c.7733A>T (n.7733A>T)
c.600+2078A>T
c.7588A>T (p.Asn2530Tyr)
c.7564A>T (p.Asn2522Tyr)
c.7624A>T (p.Asn2542Tyr)
 ClinVar dbSNP gnomAD v4
17g.31352397A=CA2255610197NF1c.7580A= (p.Asn2527=)
c.2162A= (p.Asn721=)
c.1754A= (p.Asn585=)
n.4243A=
c.648A=
c.7628A= (p.Asn2543=)
c.7598A= (p.Asn2533=)
c.7535A= (p.Asn2512=)
c.6533A= (p.Asn2178=)
c.981A=
c.7734A= (n.7734A=)
c.600+2079A=
c.7589A= (p.Asn2530=)
c.7565A= (p.Asn2522=)
c.7625A= (p.Asn2542=)
17g.31352397A>CCA8487611NF1c.7580A>C (p.Asn2527Thr)
c.2162A>C (p.Asn721Thr)
c.1754A>C (p.Asn585Thr)
n.4243A>C
c.648A>C
c.7628A>C (p.Asn2543Thr)
c.7598A>C (p.Asn2533Thr)
c.7535A>C (p.Asn2512Thr)
c.6533A>C (p.Asn2178Thr)
c.981A>C
c.7734A>C (n.7734A>C)
c.600+2079A>C
c.7589A>C (p.Asn2530Thr)
c.7565A>C (p.Asn2522Thr)
c.7625A>C (p.Asn2542Thr)
 dbSNP ExAC gnomAD v2
17g.31352397A>GCA8487610NF1c.7580A>G (p.Asn2527Ser)
c.2162A>G (p.Asn721Ser)
c.1754A>G (p.Asn585Ser)
n.4243A>G
c.648A>G
c.7628A>G (p.Asn2543Ser)
c.7598A>G (p.Asn2533Ser)
c.7535A>G (p.Asn2512Ser)
c.6533A>G (p.Asn2178Ser)
c.981A>G
c.7734A>G (n.7734A>G)
c.600+2079A>G
c.7589A>G (p.Asn2530Ser)
c.7565A>G (p.Asn2522Ser)
c.7625A>G (p.Asn2542Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352397A>TCA399017837NF1c.7580A>T (p.Asn2527Ile)
c.2162A>T (p.Asn721Ile)
c.1754A>T (p.Asn585Ile)
n.4243A>T
c.648A>T
c.7628A>T (p.Asn2543Ile)
c.7598A>T (p.Asn2533Ile)
c.7535A>T (p.Asn2512Ile)
c.6533A>T (p.Asn2178Ile)
c.981A>T
c.7734A>T (n.7734A>T)
c.600+2079A>T
c.7589A>T (p.Asn2530Ile)
c.7565A>T (p.Asn2522Ile)
c.7625A>T (p.Asn2542Ile)
 dbSNP
17g.31352398C>ACA399017839NF1c.7581C>A (p.Asn2527Lys)
c.2163C>A (p.Asn721Lys)
c.1755C>A (p.Asn585Lys)
n.4244C>A
c.649C>A
c.7629C>A (p.Asn2543Lys)
c.7599C>A (p.Asn2533Lys)
c.7536C>A (p.Asn2512Lys)
c.6534C>A (p.Asn2178Lys)
c.982C>A
c.7735C>A (n.7735C>A)
c.600+2080C>A
c.7590C>A (p.Asn2530Lys)
c.7566C>A (p.Asn2522Lys)
c.7626C>A (p.Asn2542Lys)
17g.31352398C=CA2255610200NF1c.7581C= (p.Asn2527=)
c.2163C= (p.Asn721=)
c.1755C= (p.Asn585=)
n.4244C=
c.649C=
c.7629C= (p.Asn2543=)
c.7599C= (p.Asn2533=)
c.7536C= (p.Asn2512=)
c.6534C= (p.Asn2178=)
c.982C=
c.7735C= (n.7735C=)
c.600+2080C=
c.7590C= (p.Asn2530=)
c.7566C= (p.Asn2522=)
c.7626C= (p.Asn2542=)
17g.31352398C>GCA399017841NF1c.7581C>G (p.Asn2527Lys)
c.2163C>G (p.Asn721Lys)
c.1755C>G (p.Asn585Lys)
n.4244C>G
c.649C>G
c.7629C>G (p.Asn2543Lys)
c.7599C>G (p.Asn2533Lys)
c.7536C>G (p.Asn2512Lys)
c.6534C>G (p.Asn2178Lys)
c.982C>G
c.7735C>G (n.7735C>G)
c.600+2080C>G
c.7590C>G (p.Asn2530Lys)
c.7566C>G (p.Asn2522Lys)
c.7626C>G (p.Asn2542Lys)
 dbSNP
17g.31352398C>TCA499239319NF1c.7581C>T (p.Asn2527=)
c.2163C>T (p.Asn721=)
c.1755C>T (p.Asn585=)
n.4244C>T
c.649C>T
c.7629C>T (p.Asn2543=)
c.7599C>T (p.Asn2533=)
c.7536C>T (p.Asn2512=)
c.6534C>T (p.Asn2178=)
c.982C>T
c.7735C>T (n.7735C>T)
c.600+2080C>T
c.7590C>T (p.Asn2530=)
c.7566C>T (p.Asn2522=)
c.7626C>T (p.Asn2542=)
 ClinVar dbSNP gnomAD v4
17g.31352399A=CA2255610205NF1c.7582A= (p.Thr2528=)
c.2164A= (p.Thr722=)
c.1756A= (p.Thr586=)
n.4245A=
c.650A=
c.7630A= (p.Thr2544=)
c.7600A= (p.Thr2534=)
c.7537A= (p.Thr2513=)
c.6535A= (p.Thr2179=)
c.983A=
c.7736A= (n.7736A=)
c.600+2081A=
c.7591A= (p.Thr2531=)
c.7567A= (p.Thr2523=)
c.7627A= (p.Thr2543=)
17g.31352399A>CCA399017842NF1c.7582A>C (p.Thr2528Pro)
c.2164A>C (p.Thr722Pro)
c.1756A>C (p.Thr586Pro)
n.4245A>C
c.650A>C
c.7630A>C (p.Thr2544Pro)
c.7600A>C (p.Thr2534Pro)
c.7537A>C (p.Thr2513Pro)
c.6535A>C (p.Thr2179Pro)
c.983A>C
c.7736A>C (n.7736A>C)
c.600+2081A>C
c.7591A>C (p.Thr2531Pro)
c.7567A>C (p.Thr2523Pro)
c.7627A>C (p.Thr2543Pro)
17g.31352399A>GCA8487612NF1c.7582A>G (p.Thr2528Ala)
c.2164A>G (p.Thr722Ala)
c.1756A>G (p.Thr586Ala)
n.4245A>G
c.650A>G
c.7630A>G (p.Thr2544Ala)
c.7600A>G (p.Thr2534Ala)
c.7537A>G (p.Thr2513Ala)
c.6535A>G (p.Thr2179Ala)
c.983A>G
c.7736A>G (n.7736A>G)
c.600+2081A>G
c.7591A>G (p.Thr2531Ala)
c.7567A>G (p.Thr2523Ala)
c.7627A>G (p.Thr2543Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.31352399A>TCA399017844NF1c.7582A>T (p.Thr2528Ser)
c.2164A>T (p.Thr722Ser)
c.1756A>T (p.Thr586Ser)
n.4245A>T
c.650A>T
c.7630A>T (p.Thr2544Ser)
c.7600A>T (p.Thr2534Ser)
c.7537A>T (p.Thr2513Ser)
c.6535A>T (p.Thr2179Ser)
c.983A>T
c.7736A>T (n.7736A>T)
c.600+2081A>T
c.7591A>T (p.Thr2531Ser)
c.7567A>T (p.Thr2523Ser)
c.7627A>T (p.Thr2543Ser)
 dbSNP
17g.31352400C>ACA399017846NF1c.7583C>A (p.Thr2528Asn)
c.2165C>A (p.Thr722Asn)
c.1757C>A (p.Thr586Asn)
n.4246C>A
c.651C>A
c.7631C>A (p.Thr2544Asn)
c.7601C>A (p.Thr2534Asn)
c.7538C>A (p.Thr2513Asn)
c.6536C>A (p.Thr2179Asn)
c.984C>A
c.7737C>A (n.7737C>A)
c.600+2082C>A
c.7592C>A (p.Thr2531Asn)
c.7568C>A (p.Thr2523Asn)
c.7628C>A (p.Thr2543Asn)
 dbSNP
17g.31352400C=CA2255610208NF1c.7583C= (p.Thr2528=)
c.2165C= (p.Thr722=)
c.1757C= (p.Thr586=)
n.4246C=
c.651C=
c.7631C= (p.Thr2544=)
c.7601C= (p.Thr2534=)
c.7538C= (p.Thr2513=)
c.6536C= (p.Thr2179=)
c.984C=
c.7737C= (n.7737C=)
c.600+2082C=
c.7592C= (p.Thr2531=)
c.7568C= (p.Thr2523=)
c.7628C= (p.Thr2543=)
17g.31352400C>GCA399017848NF1c.7583C>G (p.Thr2528Ser)
c.2165C>G (p.Thr722Ser)
c.1757C>G (p.Thr586Ser)
n.4246C>G
c.651C>G
c.7631C>G (p.Thr2544Ser)
c.7601C>G (p.Thr2534Ser)
c.7538C>G (p.Thr2513Ser)
c.6536C>G (p.Thr2179Ser)
c.984C>G
c.7737C>G (n.7737C>G)
c.600+2082C>G
c.7592C>G (p.Thr2531Ser)
c.7568C>G (p.Thr2523Ser)
c.7628C>G (p.Thr2543Ser)
 dbSNP
17g.31352400C>TCA399017851NF1c.7583C>T (p.Thr2528Ile)
c.2165C>T (p.Thr722Ile)
c.1757C>T (p.Thr586Ile)
n.4246C>T
c.651C>T
c.7631C>T (p.Thr2544Ile)
c.7601C>T (p.Thr2534Ile)
c.7538C>T (p.Thr2513Ile)
c.6536C>T (p.Thr2179Ile)
c.984C>T
c.7737C>T (n.7737C>T)
c.600+2082C>T
c.7592C>T (p.Thr2531Ile)
c.7568C>T (p.Thr2523Ile)
c.7628C>T (p.Thr2543Ile)
 dbSNP
17g.31352401T>ACA499239320NF1c.7584T>A (p.Thr2528=)
c.2166T>A (p.Thr722=)
c.1758T>A (p.Thr586=)
n.4247T>A
c.652T>A
c.7632T>A (p.Thr2544=)
c.7602T>A (p.Thr2534=)
c.7539T>A (p.Thr2513=)
c.6537T>A (p.Thr2179=)
c.985T>A
c.7738T>A (n.7738T>A)
c.600+2083T>A
c.7593T>A (p.Thr2531=)
c.7569T>A (p.Thr2523=)
c.7629T>A (p.Thr2543=)
17g.31352401T>CCA499239321NF1c.7584T>C (p.Thr2528=)
c.2166T>C (p.Thr722=)
c.1758T>C (p.Thr586=)
n.4247T>C
c.652T>C
c.7632T>C (p.Thr2544=)
c.7602T>C (p.Thr2534=)
c.7539T>C (p.Thr2513=)
c.6537T>C (p.Thr2179=)
c.985T>C
c.7738T>C (n.7738T>C)
c.600+2083T>C
c.7593T>C (p.Thr2531=)
c.7569T>C (p.Thr2523=)
c.7629T>C (p.Thr2543=)
17g.31352401T>GCA499239322NF1c.7584T>G (p.Thr2528=)
c.2166T>G (p.Thr722=)
c.1758T>G (p.Thr586=)
n.4247T>G
c.652T>G
c.7632T>G (p.Thr2544=)
c.7602T>G (p.Thr2534=)
c.7539T>G (p.Thr2513=)
c.6537T>G (p.Thr2179=)
c.985T>G
c.7738T>G (n.7738T>G)
c.600+2083T>G
c.7593T>G (p.Thr2531=)
c.7569T>G (p.Thr2523=)
c.7629T>G (p.Thr2543=)
17g.31352401dupCA645572272NF1c.7584dup (p.Lys2529Ter)
c.2166dup (p.Lys723Ter)
c.1758dup (p.Lys587Ter)
n.4247dup
c.652dup
c.7632dup (p.Lys2545Ter)
c.7602dup (p.Lys2535Ter)
c.7539dup (p.Lys2514Ter)
c.6537dup (p.Lys2180Ter)
c.985dup
c.7738dup (n.7738dup)
c.600+2083dup
c.7593dup (p.Lys2532Ter)
c.7569dup (p.Lys2524Ter)
c.7629dup (p.Lys2544Ter)
 ClinVar dbSNP COSMIC COSMIC
17g.31352401_31352402insGCA2739267289NF1c.7584_7585insG (p.Lys2529GlufsTer11)
c.2166_2167insG (p.Lys723GlufsTer11)
c.1758_1759insG (p.Lys587GlufsTer11)
n.4247_4248insG
c.652_653insG
c.7632_7633insG (p.Lys2545GlufsTer11)
c.7602_7603insG (p.Lys2535GlufsTer11)
c.7539_7540insG (p.Lys2514GlufsTer11)
c.6537_6538insG (p.Lys2180GlufsTer11)
c.985_986insG
c.7738_7739insG (n.7738_7739insG)
c.600+2083_600+2084insG
c.7593_7594insG (p.Lys2532GlufsTer11)
c.7569_7570insG (p.Lys2524GlufsTer11)
c.7629_7630insG (p.Lys2544GlufsTer11)
c.7632_7633insG (p.Lys2545GlufsTer5)
 ClinVar
17g.31352402A=CA2255610214NF1c.7585A= (p.Lys2529=)
c.2167A= (p.Lys723=)
c.1759A= (p.Lys587=)
n.4248A=
c.653A=
c.7633A= (p.Lys2545=)
c.7603A= (p.Lys2535=)
c.7540A= (p.Lys2514=)
c.6538A= (p.Lys2180=)
c.986A=
c.7739A= (n.7739A=)
c.600+2084A=
c.7594A= (p.Lys2532=)
c.7570A= (p.Lys2524=)
c.7630A= (p.Lys2544=)
17g.31352402A>CCA399017853NF1c.7585A>C (p.Lys2529Gln)
c.2167A>C (p.Lys723Gln)
c.1759A>C (p.Lys587Gln)
n.4248A>C
c.653A>C
c.7633A>C (p.Lys2545Gln)
c.7603A>C (p.Lys2535Gln)
c.7540A>C (p.Lys2514Gln)
c.6538A>C (p.Lys2180Gln)
c.986A>C
c.7739A>C (n.7739A>C)
c.600+2084A>C
c.7594A>C (p.Lys2532Gln)
c.7570A>C (p.Lys2524Gln)
c.7630A>C (p.Lys2544Gln)
17g.31352402A>GCA399017856NF1c.7585A>G (p.Lys2529Glu)
c.2167A>G (p.Lys723Glu)
c.1759A>G (p.Lys587Glu)
n.4248A>G
c.653A>G
c.7633A>G (p.Lys2545Glu)
c.7603A>G (p.Lys2535Glu)
c.7540A>G (p.Lys2514Glu)
c.6538A>G (p.Lys2180Glu)
c.986A>G
c.7739A>G (n.7739A>G)
c.600+2084A>G
c.7594A>G (p.Lys2532Glu)
c.7570A>G (p.Lys2524Glu)
c.7630A>G (p.Lys2544Glu)
 ClinVar
17g.31352402A>TCA399017855NF1c.7585A>T (p.Lys2529Ter)
c.2167A>T (p.Lys723Ter)
c.1759A>T (p.Lys587Ter)
n.4248A>T
c.653A>T
c.7633A>T (p.Lys2545Ter)
c.7603A>T (p.Lys2535Ter)
c.7540A>T (p.Lys2514Ter)
c.6538A>T (p.Lys2180Ter)
c.986A>T
c.7739A>T (n.7739A>T)
c.600+2084A>T
c.7594A>T (p.Lys2532Ter)
c.7570A>T (p.Lys2524Ter)
c.7630A>T (p.Lys2544Ter)
 ClinVar dbSNP
17g.31352402_31352403delCA2695225516NF1c.7585_7586del (p.Lys2529GlufsTer10)
c.2167_2168del (p.Lys723GlufsTer10)
c.1759_1760del (p.Lys587GlufsTer10)
n.4248_4249del
c.653_654del
c.7633_7634del (p.Lys2545GlufsTer10)
c.7603_7604del (p.Lys2535GlufsTer10)
c.7540_7541del (p.Lys2514GlufsTer10)
c.6538_6539del (p.Lys2180GlufsTer10)
c.986_987del
c.7739_7740del (n.7739_7740del)
c.600+2084_600+2085del
c.7594_7595del (p.Lys2532GlufsTer10)
c.7570_7571del (p.Lys2524GlufsTer10)
c.7630_7631del (p.Lys2544GlufsTer10)
c.7633_7634del (p.Lys2545GlufsTer4)
17g.31352405_31352407delCA2637079536NF1c.7588_7590del (p.Lys2530del)
c.2170_2172del (p.Lys724del)
c.1762_1764del (p.Lys588del)
n.4251_4253del
c.656_658del
c.7636_7638del (p.Lys2546del)
c.7606_7608del (p.Lys2536del)
c.7543_7545del (p.Lys2515del)
c.6541_6543del (p.Lys2181del)
c.989_991del
c.7742_7744del (n.7742_7744del)
c.600+2087_600+2089del
c.7597_7599del (p.Lys2533del)
c.7573_7575del (p.Lys2525del)
c.7633_7635del (p.Lys2545del)
 gnomAD v4
17g.31352403A>CCA399017858NF1c.7586A>C (p.Lys2529Thr)
c.2168A>C (p.Lys723Thr)
c.1760A>C (p.Lys587Thr)
n.4249A>C
c.654A>C
c.7634A>C (p.Lys2545Thr)
c.7604A>C (p.Lys2535Thr)
c.7541A>C (p.Lys2514Thr)
c.6539A>C (p.Lys2180Thr)
c.987A>C
c.7740A>C (n.7740A>C)
c.600+2085A>C
c.7595A>C (p.Lys2532Thr)
c.7571A>C (p.Lys2524Thr)
c.7631A>C (p.Lys2544Thr)
17g.31352403A>GCA399017859NF1c.7586A>G (p.Lys2529Arg)
c.2168A>G (p.Lys723Arg)
c.1760A>G (p.Lys587Arg)
n.4249A>G
c.654A>G
c.7634A>G (p.Lys2545Arg)
c.7604A>G (p.Lys2535Arg)
c.7541A>G (p.Lys2514Arg)
c.6539A>G (p.Lys2180Arg)
c.987A>G
c.7740A>G (n.7740A>G)
c.600+2085A>G
c.7595A>G (p.Lys2532Arg)
c.7571A>G (p.Lys2524Arg)
c.7631A>G (p.Lys2544Arg)
17g.31352403A>TCA399017861NF1c.7586A>T (p.Lys2529Met)
c.2168A>T (p.Lys723Met)
c.1760A>T (p.Lys587Met)
n.4249A>T
c.654A>T
c.7634A>T (p.Lys2545Met)
c.7604A>T (p.Lys2535Met)
c.7541A>T (p.Lys2514Met)
c.6539A>T (p.Lys2180Met)
c.987A>T
c.7740A>T (n.7740A>T)
c.600+2085A>T
c.7595A>T (p.Lys2532Met)
c.7571A>T (p.Lys2524Met)
c.7631A>T (p.Lys2544Met)
 dbSNP
17g.31352403_31352414delinsAGAAGTTGCTTGCA2255610219NF1c.7586_7597delinsAGAAGTTGCTTG (p.Lys2529=)
c.2168_2179delinsAGAAGTTGCTTG (p.Lys723=)
c.1760_1771delinsAGAAGTTGCTTG (p.Lys587=)
n.4249_4260delinsAGAAGTTGCTTG
c.654_665delinsAGAAGTTGCTTG
c.7634_7645delinsAGAAGTTGCTTG (p.Lys2545=)
c.7604_7615delinsAGAAGTTGCTTG (p.Lys2535=)
c.7541_7552delinsAGAAGTTGCTTG (p.Lys2514=)
c.6539_6550delinsAGAAGTTGCTTG (p.Lys2180=)
c.987_998delinsAGAAGTTGCTTG
c.7740_7751delinsAGAAGTTGCTTG (n.7740_7751delinsAGAAGTTGCTTG)
c.600+2085_600+2096delinsAGAAGTTGCTTG
c.7595_7606delinsAGAAGTTGCTTG (p.Lys2532=)
c.7571_7582delinsAGAAGTTGCTTG (p.Lys2524=)
c.7631_7642delinsAGAAGTTGCTTG (p.Lys2544=)
17g.31352404delCA2697559624NF1c.7587del (p.Lys2530SerfsTer12)
c.2169del (p.Lys724SerfsTer12)
c.1761del (p.Lys588SerfsTer12)
n.4250del
c.655del
c.7635del (p.Lys2546SerfsTer12)
c.7605del (p.Lys2536SerfsTer12)
c.7542del (p.Lys2515SerfsTer12)
c.6540del (p.Lys2181SerfsTer12)
c.988del
c.7741del (n.7741del)
c.600+2086del
c.7596del (p.Lys2533SerfsTer12)
c.7572del (p.Lys2525SerfsTer12)
c.7632del (p.Lys2545SerfsTer12)
c.7635del (p.Lys2546SerfsTer?)
 ClinVar
17g.31352404G>ACA499239323NF1c.7587G>A (p.Lys2529=)
c.2169G>A (p.Lys723=)
c.1761G>A (p.Lys587=)
n.4250G>A
c.655G>A
c.7635G>A (p.Lys2545=)
c.7605G>A (p.Lys2535=)
c.7542G>A (p.Lys2514=)
c.6540G>A (p.Lys2180=)
c.988G>A
c.7741G>A (n.7741G>A)
c.600+2086G>A
c.7596G>A (p.Lys2532=)
c.7572G>A (p.Lys2524=)
c.7632G>A (p.Lys2544=)
17g.31352404G>CCA399017862NF1c.7587G>C (p.Lys2529Asn)
c.2169G>C (p.Lys723Asn)
c.1761G>C (p.Lys587Asn)
n.4250G>C
c.655G>C
c.7635G>C (p.Lys2545Asn)
c.7605G>C (p.Lys2535Asn)
c.7542G>C (p.Lys2514Asn)
c.6540G>C (p.Lys2180Asn)
c.988G>C
c.7741G>C (n.7741G>C)
c.600+2086G>C
c.7596G>C (p.Lys2532Asn)
c.7572G>C (p.Lys2524Asn)
c.7632G>C (p.Lys2544Asn)
17g.31352404G>TCA399017864NF1c.7587G>T (p.Lys2529Asn)
c.2169G>T (p.Lys723Asn)
c.1761G>T (p.Lys587Asn)
n.4250G>T
c.655G>T
c.7635G>T (p.Lys2545Asn)
c.7605G>T (p.Lys2535Asn)
c.7542G>T (p.Lys2514Asn)
c.6540G>T (p.Lys2180Asn)
c.988G>T
c.7741G>T (n.7741G>T)
c.600+2086G>T
c.7596G>T (p.Lys2532Asn)
c.7572G>T (p.Lys2524Asn)
c.7632G>T (p.Lys2544Asn)
17g.31352404_31352405delinsATCA2739290950NF1c.7587_7588delinsAT (p.Lys2530Ter)
c.2169_2170delinsAT (p.Lys724Ter)
c.1761_1762delinsAT (p.Lys588Ter)
n.4250_4251delinsAT
c.655_656delinsAT
c.7635_7636delinsAT (p.Lys2546Ter)
c.7605_7606delinsAT (p.Lys2536Ter)
c.7542_7543delinsAT (p.Lys2515Ter)
c.6540_6541delinsAT (p.Lys2181Ter)
c.988_989delinsAT
c.7741_7742delinsAT (n.7741_7742delinsAT)
c.600+2086_600+2087delinsAT
c.7596_7597delinsAT (p.Lys2533Ter)
c.7572_7573delinsAT (p.Lys2525Ter)
c.7632_7633delinsAT (p.Lys2545Ter)
17g.31352404_31352405delinsGACA2255610225NF1c.7587_7588delinsGA (p.Lys2529=)
c.2169_2170delinsGA (p.Lys723=)
c.1761_1762delinsGA (p.Lys587=)
n.4250_4251delinsGA
c.655_656delinsGA
c.7635_7636delinsGA (p.Lys2545=)
c.7605_7606delinsGA (p.Lys2535=)
c.7542_7543delinsGA (p.Lys2514=)
c.6540_6541delinsGA (p.Lys2180=)
c.988_989delinsGA
c.7741_7742delinsGA (n.7741_7742delinsGA)
c.600+2086_600+2087delinsGA
c.7596_7597delinsGA (p.Lys2532=)
c.7572_7573delinsGA (p.Lys2524=)
c.7632_7633delinsGA (p.Lys2544=)
17g.31352405_31352415delCA645369731NF1c.7588_7597+1del
c.2170_2179+1del
c.1762_1771+1del
n.4251_4260+1del
c.656_665+1del
c.7636_7645+1del
c.7606_7615+1del
c.7543_7552+1del
c.6541_6550+1del
c.989_998+1del
c.7742_7751+1del
c.600+2087_600+2097del
c.7597_7606+1del
c.7573_7582+1del
c.7633_7642+1del
 ClinVar dbSNP
17g.31352405A>CCA399017866NF1c.7588A>C (p.Lys2530Gln)
c.2170A>C (p.Lys724Gln)
c.1762A>C (p.Lys588Gln)
n.4251A>C
c.656A>C
c.7636A>C (p.Lys2546Gln)
c.7606A>C (p.Lys2536Gln)
c.7543A>C (p.Lys2515Gln)
c.6541A>C (p.Lys2181Gln)
c.989A>C
c.7742A>C (n.7742A>C)
c.600+2087A>C
c.7597A>C (p.Lys2533Gln)
c.7573A>C (p.Lys2525Gln)
c.7633A>C (p.Lys2545Gln)
 gnomAD v4
17g.31352405A>GCA399017867NF1c.7588A>G (p.Lys2530Glu)
c.2170A>G (p.Lys724Glu)
c.1762A>G (p.Lys588Glu)
n.4251A>G
c.656A>G
c.7636A>G (p.Lys2546Glu)
c.7606A>G (p.Lys2536Glu)
c.7543A>G (p.Lys2515Glu)
c.6541A>G (p.Lys2181Glu)
c.989A>G
c.7742A>G (n.7742A>G)
c.600+2087A>G
c.7597A>G (p.Lys2533Glu)
c.7573A>G (p.Lys2525Glu)
c.7633A>G (p.Lys2545Glu)
17g.31352405A>TCA399017869NF1c.7588A>T (p.Lys2530Ter)
c.2170A>T (p.Lys724Ter)
c.1762A>T (p.Lys588Ter)
n.4251A>T
c.656A>T
c.7636A>T (p.Lys2546Ter)
c.7606A>T (p.Lys2536Ter)
c.7543A>T (p.Lys2515Ter)
c.6541A>T (p.Lys2181Ter)
c.989A>T
c.7742A>T (n.7742A>T)
c.600+2087A>T
c.7597A>T (p.Lys2533Ter)
c.7573A>T (p.Lys2525Ter)
c.7633A>T (p.Lys2545Ter)
17g.31352406delCA16615589NF1c.7589del (p.Lys2530SerfsTer12)
c.2171del (p.Lys724SerfsTer12)
c.1763del (p.Lys588SerfsTer12)
n.4252del
c.657del
c.7637del (p.Lys2546SerfsTer12)
c.7607del (p.Lys2536SerfsTer12)
c.7544del (p.Lys2515SerfsTer12)
c.6542del (p.Lys2181SerfsTer12)
c.990del
c.7743del (n.7743del)
c.600+2088del
c.7598del (p.Lys2533SerfsTer12)
c.7574del (p.Lys2525SerfsTer12)
c.7634del (p.Lys2545SerfsTer12)
c.7637del (p.Lys2546SerfsTer?)
 ClinVar dbSNP
17g.31352406A>CCA399017871NF1c.7589A>C (p.Lys2530Thr)
c.2171A>C (p.Lys724Thr)
c.1763A>C (p.Lys588Thr)
n.4252A>C
c.657A>C
c.7637A>C (p.Lys2546Thr)
c.7607A>C (p.Lys2536Thr)
c.7544A>C (p.Lys2515Thr)
c.6542A>C (p.Lys2181Thr)
c.990A>C
c.7743A>C (n.7743A>C)
c.600+2088A>C
c.7598A>C (p.Lys2533Thr)
c.7574A>C (p.Lys2525Thr)
c.7634A>C (p.Lys2545Thr)
17g.31352406A>GCA399017873NF1c.7589A>G (p.Lys2530Arg)
c.2171A>G (p.Lys724Arg)
c.1763A>G (p.Lys588Arg)
n.4252A>G
c.657A>G
c.7637A>G (p.Lys2546Arg)
c.7607A>G (p.Lys2536Arg)
c.7544A>G (p.Lys2515Arg)
c.6542A>G (p.Lys2181Arg)
c.990A>G
c.7743A>G (n.7743A>G)
c.600+2088A>G
c.7598A>G (p.Lys2533Arg)
c.7574A>G (p.Lys2525Arg)
c.7634A>G (p.Lys2545Arg)
 dbSNP
17g.31352406A>TCA399017874NF1c.7589A>T (p.Lys2530Met)
c.2171A>T (p.Lys724Met)
c.1763A>T (p.Lys588Met)
n.4252A>T
c.657A>T
c.7637A>T (p.Lys2546Met)
c.7607A>T (p.Lys2536Met)
c.7544A>T (p.Lys2515Met)
c.6542A>T (p.Lys2181Met)
c.990A>T
c.7743A>T (n.7743A>T)
c.600+2088A>T
c.7598A>T (p.Lys2533Met)
c.7574A>T (p.Lys2525Met)
c.7634A>T (p.Lys2545Met)
 dbSNP
17g.31352406_31352407delinsAGCA2255610244NF1c.7589_7590delinsAG (p.Lys2530=)
c.2171_2172delinsAG (p.Lys724=)
c.1763_1764delinsAG (p.Lys588=)
n.4252_4253delinsAG
c.657_658delinsAG
c.7637_7638delinsAG (p.Lys2546=)
c.7607_7608delinsAG (p.Lys2536=)
c.7544_7545delinsAG (p.Lys2515=)
c.6542_6543delinsAG (p.Lys2181=)
c.990_991delinsAG
c.7743_7744delinsAG (n.7743_7744delinsAG)
c.600+2088_600+2089delinsAG
c.7598_7599delinsAG (p.Lys2533=)
c.7574_7575delinsAG (p.Lys2525=)
c.7634_7635delinsAG (p.Lys2545=)
17g.31352406_31352407dupCA2695225517NF1c.7589_7590dup (p.Leu2531SerfsTer12)
c.2171_2172dup (p.Leu725SerfsTer12)
c.1763_1764dup (p.Leu589SerfsTer12)
n.4252_4253dup
c.657_658dup
c.7637_7638dup (p.Leu2547SerfsTer12)
c.7607_7608dup (p.Leu2537SerfsTer12)
c.7544_7545dup (p.Leu2516SerfsTer12)
c.6542_6543dup (p.Leu2182SerfsTer12)
c.990_991dup
c.7743_7744dup (n.7743_7744dup)
c.600+2088_600+2089dup
c.7598_7599dup (p.Leu2534SerfsTer12)
c.7574_7575dup (p.Leu2526SerfsTer12)
c.7634_7635dup (p.Leu2546SerfsTer12)
c.7637_7638dup (p.Leu2547SerfsTer?)
17g.31352407delCA916080678NF1c.7590del (p.Lys2530AsnfsTer12)
c.2172del (p.Lys724AsnfsTer12)
c.1764del (p.Lys588AsnfsTer12)
n.4253del
c.658del
c.7638del (p.Lys2546AsnfsTer12)
c.7608del (p.Lys2536AsnfsTer12)
c.7545del (p.Lys2515AsnfsTer12)
c.6543del (p.Lys2181AsnfsTer12)
c.991del
c.7744del (n.7744del)
c.600+2089del
c.7599del (p.Lys2533AsnfsTer12)
c.7575del (p.Lys2525AsnfsTer12)
c.7635del (p.Lys2545AsnfsTer12)
c.7638del (p.Lys2546AsnfsTer?)
 ClinVar dbSNP
17g.31352407G>ACA499239324NF1c.7590G>A (p.Lys2530=)
c.2172G>A (p.Lys724=)
c.1764G>A (p.Lys588=)
n.4253G>A
c.658G>A
c.7638G>A (p.Lys2546=)
c.7608G>A (p.Lys2536=)
c.7545G>A (p.Lys2515=)
c.6543G>A (p.Lys2181=)
c.991G>A
c.7744G>A (n.7744G>A)
c.600+2089G>A
c.7599G>A (p.Lys2533=)
c.7575G>A (p.Lys2525=)
c.7635G>A (p.Lys2545=)
 ClinVar dbSNP gnomAD v4
17g.31352407G>CCA399017877NF1c.7590G>C (p.Lys2530Asn)
c.2172G>C (p.Lys724Asn)
c.1764G>C (p.Lys588Asn)
n.4253G>C
c.658G>C
c.7638G>C (p.Lys2546Asn)
c.7608G>C (p.Lys2536Asn)
c.7545G>C (p.Lys2515Asn)
c.6543G>C (p.Lys2181Asn)
c.991G>C
c.7744G>C (n.7744G>C)
c.600+2089G>C
c.7599G>C (p.Lys2533Asn)
c.7575G>C (p.Lys2525Asn)
c.7635G>C (p.Lys2545Asn)
 dbSNP
17g.31352407G=CA2255610254NF1c.7590G= (p.Lys2530=)
c.2172G= (p.Lys724=)
c.1764G= (p.Lys588=)
n.4253G=
c.658G=
c.7638G= (p.Lys2546=)
c.7608G= (p.Lys2536=)
c.7545G= (p.Lys2515=)
c.6543G= (p.Lys2181=)
c.991G=
c.7744G= (n.7744G=)
c.600+2089G=
c.7599G= (p.Lys2533=)
c.7575G= (p.Lys2525=)
c.7635G= (p.Lys2545=)
17g.31352407G>TCA399017875NF1c.7590G>T (p.Lys2530Asn)
c.2172G>T (p.Lys724Asn)
c.1764G>T (p.Lys588Asn)
n.4253G>T
c.658G>T
c.7638G>T (p.Lys2546Asn)
c.7608G>T (p.Lys2536Asn)
c.7545G>T (p.Lys2515Asn)
c.6543G>T (p.Lys2181Asn)
c.991G>T
c.7744G>T (n.7744G>T)
c.600+2089G>T
c.7599G>T (p.Lys2533Asn)
c.7575G>T (p.Lys2525Asn)
c.7635G>T (p.Lys2545Asn)
 ClinVar dbSNP
17g.31352408T>ACA399017879NF1c.7591T>A (p.Leu2531Met)
c.2173T>A (p.Leu725Met)
c.1765T>A (p.Leu589Met)
n.4254T>A
c.659T>A
c.7639T>A (p.Leu2547Met)
c.7609T>A (p.Leu2537Met)
c.7546T>A (p.Leu2516Met)
c.6544T>A (p.Leu2182Met)
c.992T>A
c.7745T>A (n.7745T>A)
c.600+2090T>A
c.7600T>A (p.Leu2534Met)
c.7576T>A (p.Leu2526Met)
c.7636T>A (p.Leu2546Met)
 dbSNP gnomAD v4
17g.31352408T>CCA8487613NF1c.7591T>C (p.Leu2531=)
c.2173T>C (p.Leu725=)
c.1765T>C (p.Leu589=)
n.4254T>C
c.659T>C
c.7639T>C (p.Leu2547=)
c.7609T>C (p.Leu2537=)
c.7546T>C (p.Leu2516=)
c.6544T>C (p.Leu2182=)
c.992T>C
c.7745T>C (n.7745T>C)
c.600+2090T>C
c.7600T>C (p.Leu2534=)
c.7576T>C (p.Leu2526=)
c.7636T>C (p.Leu2546=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352408T>GCA399017881NF1c.7591T>G (p.Leu2531Val)
c.2173T>G (p.Leu725Val)
c.1765T>G (p.Leu589Val)
n.4254T>G
c.659T>G
c.7639T>G (p.Leu2547Val)
c.7609T>G (p.Leu2537Val)
c.7546T>G (p.Leu2516Val)
c.6544T>G (p.Leu2182Val)
c.992T>G
c.7745T>G (n.7745T>G)
c.600+2090T>G
c.7600T>G (p.Leu2534Val)
c.7576T>G (p.Leu2526Val)
c.7636T>G (p.Leu2546Val)
 ClinVar dbSNP gnomAD v4
17g.31352408T=CA2255610262NF1c.7591T= (p.Leu2531=)
c.2173T= (p.Leu725=)
c.1765T= (p.Leu589=)
n.4254T=
c.659T=
c.7639T= (p.Leu2547=)
c.7609T= (p.Leu2537=)
c.7546T= (p.Leu2516=)
c.6544T= (p.Leu2182=)
c.992T=
c.7745T= (n.7745T=)
c.600+2090T=
c.7600T= (p.Leu2534=)
c.7576T= (p.Leu2526=)
c.7636T= (p.Leu2546=)
17g.31352409dupCA658761033NF1c.7592dup (p.Leu2531PhefsTer9)
c.2174dup (p.Leu725PhefsTer9)
c.1766dup (p.Leu589PhefsTer9)
n.4255dup
c.660dup
c.7640dup (p.Leu2547PhefsTer9)
c.7610dup (p.Leu2537PhefsTer9)
c.7547dup (p.Leu2516PhefsTer9)
c.6545dup (p.Leu2182PhefsTer9)
c.993dup
c.7746dup (n.7746dup)
c.600+2091dup
c.7601dup (p.Leu2534PhefsTer9)
c.7577dup (p.Leu2526PhefsTer9)
c.7637dup (p.Leu2546PhefsTer9)
c.7640dup (p.Leu2547PhefsTer3)
17g.31352409delCA2499224232NF1c.7592del (p.Leu2531CysfsTer11)
c.2174del (p.Leu725CysfsTer11)
c.1766del (p.Leu589CysfsTer11)
n.4255del
c.660del
c.7640del (p.Leu2547CysfsTer11)
c.7610del (p.Leu2537CysfsTer11)
c.7547del (p.Leu2516CysfsTer11)
c.6545del (p.Leu2182CysfsTer11)
c.993del
c.7746del (n.7746del)
c.600+2091del
c.7601del (p.Leu2534CysfsTer11)
c.7577del (p.Leu2526CysfsTer11)
c.7637del (p.Leu2546CysfsTer11)
c.7640del (p.Leu2547CysfsTer?)
 ClinVar dbSNP
17g.31352409T>ACA399017882NF1c.7592T>A (p.Leu2531Ter)
c.2174T>A (p.Leu725Ter)
c.1766T>A (p.Leu589Ter)
n.4255T>A
c.660T>A
c.7640T>A (p.Leu2547Ter)
c.7610T>A (p.Leu2537Ter)
c.7547T>A (p.Leu2516Ter)
c.6545T>A (p.Leu2182Ter)
c.993T>A
c.7746T>A (n.7746T>A)
c.600+2091T>A
c.7601T>A (p.Leu2534Ter)
c.7577T>A (p.Leu2526Ter)
c.7637T>A (p.Leu2546Ter)
 dbSNP
17g.31352409T>CCA10580414NF1c.7592T>C (p.Leu2531Ser)
c.2174T>C (p.Leu725Ser)
c.1766T>C (p.Leu589Ser)
n.4255T>C
c.660T>C
c.7640T>C (p.Leu2547Ser)
c.7610T>C (p.Leu2537Ser)
c.7547T>C (p.Leu2516Ser)
c.6545T>C (p.Leu2182Ser)
c.993T>C
c.7746T>C (n.7746T>C)
c.600+2091T>C
c.7601T>C (p.Leu2534Ser)
c.7577T>C (p.Leu2526Ser)
c.7637T>C (p.Leu2546Ser)
 ClinVar dbSNP
17g.31352409T>GCA399017884NF1c.7592T>G (p.Leu2531Trp)
c.2174T>G (p.Leu725Trp)
c.1766T>G (p.Leu589Trp)
n.4255T>G
c.660T>G
c.7640T>G (p.Leu2547Trp)
c.7610T>G (p.Leu2537Trp)
c.7547T>G (p.Leu2516Trp)
c.6545T>G (p.Leu2182Trp)
c.993T>G
c.7746T>G (n.7746T>G)
c.600+2091T>G
c.7601T>G (p.Leu2534Trp)
c.7577T>G (p.Leu2526Trp)
c.7637T>G (p.Leu2546Trp)
17g.31352409T=CA2255610268NF1c.7592T= (p.Leu2531=)
c.2174T= (p.Leu725=)
c.1766T= (p.Leu589=)
n.4255T=
c.660T=
c.7640T= (p.Leu2547=)
c.7610T= (p.Leu2537=)
c.7547T= (p.Leu2516=)
c.6545T= (p.Leu2182=)
c.993T=
c.7746T= (n.7746T=)
c.600+2091T=
c.7601T= (p.Leu2534=)
c.7577T= (p.Leu2526=)
c.7637T= (p.Leu2546=)
17g.31352410G>ACA499239325NF1c.7593G>A (p.Leu2531=)
c.2175G>A (p.Leu725=)
c.1767G>A (p.Leu589=)
n.4256G>A
c.661G>A
c.7641G>A (p.Leu2547=)
c.7611G>A (p.Leu2537=)
c.7548G>A (p.Leu2516=)
c.6546G>A (p.Leu2182=)
c.994G>A
c.7747G>A (n.7747G>A)
c.600+2092G>A
c.7602G>A (p.Leu2534=)
c.7578G>A (p.Leu2526=)
c.7638G>A (p.Leu2546=)
 ClinVar dbSNP
17g.31352410G>CCA399017886NF1c.7593G>C (p.Leu2531Phe)
c.2175G>C (p.Leu725Phe)
c.1767G>C (p.Leu589Phe)
n.4256G>C
c.661G>C
c.7641G>C (p.Leu2547Phe)
c.7611G>C (p.Leu2537Phe)
c.7548G>C (p.Leu2516Phe)
c.6546G>C (p.Leu2182Phe)
c.994G>C
c.7747G>C (n.7747G>C)
c.600+2092G>C
c.7602G>C (p.Leu2534Phe)
c.7578G>C (p.Leu2526Phe)
c.7638G>C (p.Leu2546Phe)
 dbSNP
17g.31352410G=CA2255610275NF1c.7593G= (p.Leu2531=)
c.2175G= (p.Leu725=)
c.1767G= (p.Leu589=)
n.4256G=
c.661G=
c.7641G= (p.Leu2547=)
c.7611G= (p.Leu2537=)
c.7548G= (p.Leu2516=)
c.6546G= (p.Leu2182=)
c.994G=
c.7747G= (n.7747G=)
c.600+2092G=
c.7602G= (p.Leu2534=)
c.7578G= (p.Leu2526=)
c.7638G= (p.Leu2546=)
17g.31352410G>TCA399017887NF1c.7593G>T (p.Leu2531Phe)
c.2175G>T (p.Leu725Phe)
c.1767G>T (p.Leu589Phe)
n.4256G>T
c.661G>T
c.7641G>T (p.Leu2547Phe)
c.7611G>T (p.Leu2537Phe)
c.7548G>T (p.Leu2516Phe)
c.6546G>T (p.Leu2182Phe)
c.994G>T
c.7747G>T (n.7747G>T)
c.600+2092G>T
c.7602G>T (p.Leu2534Phe)
c.7578G>T (p.Leu2526Phe)
c.7638G>T (p.Leu2546Phe)
17g.31352410_31352411delinsGCCA2255610273NF1c.7593_7594delinsGC (p.Leu2531=)
c.2175_2176delinsGC (p.Leu725=)
c.1767_1768delinsGC (p.Leu589=)
n.4256_4257delinsGC
c.661_662delinsGC
c.7641_7642delinsGC (p.Leu2547=)
c.7611_7612delinsGC (p.Leu2537=)
c.7548_7549delinsGC (p.Leu2516=)
c.6546_6547delinsGC (p.Leu2182=)
c.994_995delinsGC
c.7747_7748delinsGC (n.7747_7748delinsGC)
c.600+2092_600+2093delinsGC
c.7602_7603delinsGC (p.Leu2534=)
c.7578_7579delinsGC (p.Leu2526=)
c.7638_7639delinsGC (p.Leu2546=)
17g.31352411delCA915949876NF1c.7594del (p.Gly2533GlufsTer9)
c.2176del (p.Gly727GlufsTer9)
c.1768del (p.Gly591GlufsTer9)
n.4257del
c.662del
c.7642del (p.Gly2549GlufsTer9)
c.7612del (p.Gly2539GlufsTer9)
c.7549del (p.Gly2518GlufsTer9)
c.6547del (p.Gly2184GlufsTer9)
c.995del
c.7748del (n.7748del)
c.600+2093del
c.7603del (p.Gly2536GlufsTer9)
c.7579del (p.Gly2528GlufsTer9)
c.7639del (p.Gly2548GlufsTer9)
c.7642del (p.Glu2549LysfsTer?)
 ClinVar dbSNP
17g.31352411C>ACA399017891NF1c.7594C>A (p.Leu2532Ile)
c.2176C>A (p.Leu726Ile)
c.1768C>A (p.Leu590Ile)
n.4257C>A
c.662C>A
c.7642C>A (p.Leu2548Ile)
c.7612C>A (p.Leu2538Ile)
c.7549C>A (p.Leu2517Ile)
c.6547C>A (p.Leu2183Ile)
c.995C>A
c.7748C>A (n.7748C>A)
c.600+2093C>A
c.7603C>A (p.Leu2535Ile)
c.7579C>A (p.Leu2527Ile)
c.7639C>A (p.Leu2547Ile)
 dbSNP
17g.31352411C=CA2255610279NF1c.7594C= (p.Leu2532=)
c.2176C= (p.Leu726=)
c.1768C= (p.Leu590=)
n.4257C=
c.662C=
c.7642C= (p.Leu2548=)
c.7612C= (p.Leu2538=)
c.7549C= (p.Leu2517=)
c.6547C= (p.Leu2183=)
c.995C=
c.7748C= (n.7748C=)
c.600+2093C=
c.7603C= (p.Leu2535=)
c.7579C= (p.Leu2527=)
c.7639C= (p.Leu2547=)
17g.31352411C>GCA399017889NF1c.7594C>G (p.Leu2532Val)
c.2176C>G (p.Leu726Val)
c.1768C>G (p.Leu590Val)
n.4257C>G
c.662C>G
c.7642C>G (p.Leu2548Val)
c.7612C>G (p.Leu2538Val)
c.7549C>G (p.Leu2517Val)
c.6547C>G (p.Leu2183Val)
c.995C>G
c.7748C>G (n.7748C>G)
c.600+2093C>G
c.7603C>G (p.Leu2535Val)
c.7579C>G (p.Leu2527Val)
c.7639C>G (p.Leu2547Val)
 dbSNP
17g.31352411C>TCA8487614NF1c.7594C>T (p.Leu2532Phe)
c.2176C>T (p.Leu726Phe)
c.1768C>T (p.Leu590Phe)
n.4257C>T
c.662C>T
c.7642C>T (p.Leu2548Phe)
c.7612C>T (p.Leu2538Phe)
c.7549C>T (p.Leu2517Phe)
c.6547C>T (p.Leu2183Phe)
c.995C>T
c.7748C>T (n.7748C>T)
c.600+2093C>T
c.7603C>T (p.Leu2535Phe)
c.7579C>T (p.Leu2527Phe)
c.7639C>T (p.Leu2547Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.31352411_31352412delinsCTCA2255610281NF1c.7594_7595delinsCT (p.Leu2532=)
c.2176_2177delinsCT (p.Leu726=)
c.1768_1769delinsCT (p.Leu590=)
n.4257_4258delinsCT
c.662_663delinsCT
c.7642_7643delinsCT (p.Leu2548=)
c.7612_7613delinsCT (p.Leu2538=)
c.7549_7550delinsCT (p.Leu2517=)
c.6547_6548delinsCT (p.Leu2183=)
c.995_996delinsCT
c.7748_7749delinsCT (n.7748_7749delinsCT)
c.600+2093_600+2094delinsCT
c.7603_7604delinsCT (p.Leu2535=)
c.7579_7580delinsCT (p.Leu2527=)
c.7639_7640delinsCT (p.Leu2547=)
17g.31352412T>ACA399017893NF1c.7595T>A (p.Leu2532His)
c.2177T>A (p.Leu726His)
c.1769T>A (p.Leu590His)
n.4258T>A
c.663T>A
c.7643T>A (p.Leu2548His)
c.7613T>A (p.Leu2538His)
c.7550T>A (p.Leu2517His)
c.6548T>A (p.Leu2183His)
c.996T>A
c.7749T>A (n.7749T>A)
c.600+2094T>A
c.7604T>A (p.Leu2535His)
c.7580T>A (p.Leu2527His)
c.7640T>A (p.Leu2547His)
 dbSNP
17g.31352412T>CCA399017894NF1c.7595T>C (p.Leu2532Pro)
c.2177T>C (p.Leu726Pro)
c.1769T>C (p.Leu590Pro)
n.4258T>C
c.663T>C
c.7643T>C (p.Leu2548Pro)
c.7613T>C (p.Leu2538Pro)
c.7550T>C (p.Leu2517Pro)
c.6548T>C (p.Leu2183Pro)
c.996T>C
c.7749T>C (n.7749T>C)
c.600+2094T>C
c.7604T>C (p.Leu2535Pro)
c.7580T>C (p.Leu2527Pro)
c.7640T>C (p.Leu2547Pro)
 dbSNP
17g.31352412T>GCA399017896NF1c.7595T>G (p.Leu2532Arg)
c.2177T>G (p.Leu726Arg)
c.1769T>G (p.Leu590Arg)
n.4258T>G
c.663T>G
c.7643T>G (p.Leu2548Arg)
c.7613T>G (p.Leu2538Arg)
c.7550T>G (p.Leu2517Arg)
c.6548T>G (p.Leu2183Arg)
c.996T>G
c.7749T>G (n.7749T>G)
c.600+2094T>G
c.7604T>G (p.Leu2535Arg)
c.7580T>G (p.Leu2527Arg)
c.7640T>G (p.Leu2547Arg)
17g.31352413delCA1139665477NF1c.7596del (p.Gly2533GlufsTer9)
c.2178del (p.Gly727GlufsTer9)
c.1770del (p.Gly591GlufsTer9)
n.4259del
c.664del
c.7644del (p.Gly2549GlufsTer9)
c.7614del (p.Gly2539GlufsTer9)
c.7551del (p.Gly2518GlufsTer9)
c.6549del (p.Gly2184GlufsTer9)
c.997del
c.7750del (n.7750del)
c.600+2095del
c.7605del (p.Gly2536GlufsTer9)
c.7581del (p.Gly2528GlufsTer9)
c.7641del (p.Gly2548GlufsTer9)
c.7644del (p.Glu2549LysfsTer?)
 ClinVar dbSNP

Number of alleles fetched