Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.31343008_31343033dup	CA2499224213	NF1	c.7045-1_7069dup c.1627-1_1651dup c.1219-1_1243dup n.3708-1_3732dup c.7093-1_7117dup c.7063-1_7087dup c.7000-1_7024dup c.5998-1_6022dup c.446-1_470dup c.7199-1_7223dup c.206-1_230dup n.305-1_329dup n.477-1_501dup c.7054-1_7078dup c.7030-1_7054dup c.7090-1_7114dup	ClinVar dbSNP
17	g.31343020_31343047delinsAGTATTTATGGCAATCCGGAATCCTCTG	CA2255605060	NF1	c.7056_7083delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2352=) c.1638_1665delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu546=) c.1230_1257delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu410=) n.3719_3746delinsAGTATTTATGGCAATCCGGAATCCTCTG c.13_40delinsAGTATTTATGGCAATCCGGAATCCTCTG c.7104_7131delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2368=) c.7074_7101delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2358=) c.7011_7038delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2337=) c.6009_6036delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2003=) c.457_484delinsAGTATTTATGGCAATCCGGAATCCTCTG c.7210_7237delinsAGTATTTATGGCAATCCGGAATCCTCTG (n.7210_7237delinsAGTATTTATGGCAATCCGGAATCCTCTG) c.217_244delinsAGTATTTATGGCAATCCGGAATCCTCTG n.316_343delinsAGTATTTATGGCAATCCGGAATCCTCTG n.488_515delinsAGTATTTATGGCAATCCGGAATCCTCTG c.7065_7092delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2355=) c.7041_7068delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2347=) c.7101_7128delinsAGTATTTATGGCAATCCGGAATCCTCTG (p.Glu2367=)
17	g.31343022_31343048del	CA658798777	NF1	c.7058_7084del (p.Val2353_Leu2361del) c.1640_1666del (p.Val547_Leu555del) c.1232_1258del (p.Val411_Leu419del) n.3721_3747del c.15_41del c.7106_7132del (p.Val2369_Leu2377del) c.7076_7102del (p.Val2359_Leu2367del) c.7013_7039del (p.Val2338_Leu2346del) c.6011_6037del (p.Val2004_Leu2012del) c.459_485del c.7212_7238del (n.7212_7238del) c.219_245del n.318_344del n.490_516del c.7067_7093del (p.Val2356_Leu2364del) c.7043_7069del (p.Val2348_Leu2356del) c.7103_7129del (p.Val2368_Leu2376del)	ClinVar dbSNP
17	g.31343029G>A	CA399015545	NF1	c.7065G>A (p.Met2355Ile) c.1647G>A (p.Met549Ile) c.1239G>A (p.Met413Ile) n.3728G>A c.22G>A c.7113G>A (p.Met2371Ile) c.7083G>A (p.Met2361Ile) c.7020G>A (p.Met2340Ile) c.6018G>A (p.Met2006Ile) c.466G>A c.7219G>A (n.7219G>A) c.226G>A n.325G>A n.497G>A c.7074G>A (p.Met2358Ile) c.7050G>A (p.Met2350Ile) c.7110G>A (p.Met2370Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.31343029G>C	CA399015546	NF1	c.7065G>C (p.Met2355Ile) c.1647G>C (p.Met549Ile) c.1239G>C (p.Met413Ile) n.3728G>C c.22G>C c.7113G>C (p.Met2371Ile) c.7083G>C (p.Met2361Ile) c.7020G>C (p.Met2340Ile) c.6018G>C (p.Met2006Ile) c.466G>C c.7219G>C (n.7219G>C) c.226G>C n.325G>C n.497G>C c.7074G>C (p.Met2358Ile) c.7050G>C (p.Met2350Ile) c.7110G>C (p.Met2370Ile)
17	g.31343029G=	CA2255605066	NF1	c.7065G= (p.Met2355=) c.1647G= (p.Met549=) c.1239G= (p.Met413=) n.3728G= c.22G= c.7113G= (p.Met2371=) c.7083G= (p.Met2361=) c.7020G= (p.Met2340=) c.6018G= (p.Met2006=) c.466G= c.7219G= (n.7219G=) c.226G= n.325G= n.497G= c.7074G= (p.Met2358=) c.7050G= (p.Met2350=) c.7110G= (p.Met2370=)
17	g.31343029G>T	CA399015547	NF1	c.7065G>T (p.Met2355Ile) c.1647G>T (p.Met549Ile) c.1239G>T (p.Met413Ile) n.3728G>T c.22G>T c.7113G>T (p.Met2371Ile) c.7083G>T (p.Met2361Ile) c.7020G>T (p.Met2340Ile) c.6018G>T (p.Met2006Ile) c.466G>T c.7219G>T (n.7219G>T) c.226G>T n.325G>T n.497G>T c.7074G>T (p.Met2358Ile) c.7050G>T (p.Met2350Ile) c.7110G>T (p.Met2370Ile)
17	g.31343030del	CA2733617030	NF1	c.7066del (p.Ala2356GlnfsTer?) c.1648del (p.Ala550GlnfsTer?) c.1240del (p.Ala414GlnfsTer?) n.3729del c.23del c.7114del (p.Ala2372GlnfsTer?) c.7084del (p.Ala2362GlnfsTer?) c.7021del (p.Ala2341GlnfsTer?) c.6019del (p.Ala2007GlnfsTer?) c.467del c.7220del (n.7220del) c.227del n.326del n.498del c.7075del (p.Ala2359GlnfsTer?) c.7051del (p.Ala2351GlnfsTer?) c.7111del (p.Ala2371GlnfsTer?)	dbSNP
17	g.31343030G>A	CA399015548	NF1	c.7066G>A (p.Ala2356Thr) c.1648G>A (p.Ala550Thr) c.1240G>A (p.Ala414Thr) n.3729G>A c.23G>A c.7114G>A (p.Ala2372Thr) c.7084G>A (p.Ala2362Thr) c.7021G>A (p.Ala2341Thr) c.6019G>A (p.Ala2007Thr) c.467G>A c.7220G>A (n.7220G>A) c.227G>A n.326G>A n.498G>A c.7075G>A (p.Ala2359Thr) c.7051G>A (p.Ala2351Thr) c.7111G>A (p.Ala2371Thr)	dbSNP
17	g.31343030G>C	CA399015549	NF1	c.7066G>C (p.Ala2356Pro) c.1648G>C (p.Ala550Pro) c.1240G>C (p.Ala414Pro) n.3729G>C c.23G>C c.7114G>C (p.Ala2372Pro) c.7084G>C (p.Ala2362Pro) c.7021G>C (p.Ala2341Pro) c.6019G>C (p.Ala2007Pro) c.467G>C c.7220G>C (n.7220G>C) c.227G>C n.326G>C n.498G>C c.7075G>C (p.Ala2359Pro) c.7051G>C (p.Ala2351Pro) c.7111G>C (p.Ala2371Pro)	dbSNP
17	g.31343030G>T	CA399015550	NF1	c.7066G>T (p.Ala2356Ser) c.1648G>T (p.Ala550Ser) c.1240G>T (p.Ala414Ser) n.3729G>T c.23G>T c.7114G>T (p.Ala2372Ser) c.7084G>T (p.Ala2362Ser) c.7021G>T (p.Ala2341Ser) c.6019G>T (p.Ala2007Ser) c.467G>T c.7220G>T (n.7220G>T) c.227G>T n.326G>T n.498G>T c.7075G>T (p.Ala2359Ser) c.7051G>T (p.Ala2351Ser) c.7111G>T (p.Ala2371Ser)	dbSNP
17	g.31343031C>A	CA399015551	NF1	c.7067C>A (p.Ala2356Glu) c.1649C>A (p.Ala550Glu) c.1241C>A (p.Ala414Glu) n.3730C>A c.24C>A c.7115C>A (p.Ala2372Glu) c.7085C>A (p.Ala2362Glu) c.7022C>A (p.Ala2341Glu) c.6020C>A (p.Ala2007Glu) c.468C>A c.7221C>A (n.7221C>A) c.228C>A n.327C>A n.499C>A c.7076C>A (p.Ala2359Glu) c.7052C>A (p.Ala2351Glu) c.7112C>A (p.Ala2371Glu)
17	g.31343031C>G	CA399015552	NF1	c.7067C>G (p.Ala2356Gly) c.1649C>G (p.Ala550Gly) c.1241C>G (p.Ala414Gly) n.3730C>G c.24C>G c.7115C>G (p.Ala2372Gly) c.7085C>G (p.Ala2362Gly) c.7022C>G (p.Ala2341Gly) c.6020C>G (p.Ala2007Gly) c.468C>G c.7221C>G (n.7221C>G) c.228C>G n.327C>G n.499C>G c.7076C>G (p.Ala2359Gly) c.7052C>G (p.Ala2351Gly) c.7112C>G (p.Ala2371Gly)	gnomAD v4
17	g.31343031C>T	CA399015553	NF1	c.7067C>T (p.Ala2356Val) c.1649C>T (p.Ala550Val) c.1241C>T (p.Ala414Val) n.3730C>T c.24C>T c.7115C>T (p.Ala2372Val) c.7085C>T (p.Ala2362Val) c.7022C>T (p.Ala2341Val) c.6020C>T (p.Ala2007Val) c.468C>T c.7221C>T (n.7221C>T) c.228C>T n.327C>T n.499C>T c.7076C>T (p.Ala2359Val) c.7052C>T (p.Ala2351Val) c.7112C>T (p.Ala2371Val)	COSMIC COSMIC COSMIC
17	g.31343032A=	CA2255605067	NF1	c.7068A= (p.Ala2356=) c.1650A= (p.Ala550=) c.1242A= (p.Ala414=) n.3731A= c.25A= c.7116A= (p.Ala2372=) c.7086A= (p.Ala2362=) c.7023A= (p.Ala2341=) c.6021A= (p.Ala2007=) c.469A= c.7222A= (n.7222A=) c.229A= n.328A= n.500A= c.7077A= (p.Ala2359=) c.7053A= (p.Ala2351=) c.7113A= (p.Ala2371=)
17	g.31343032A>C	CA499236811	NF1	c.7068A>C (p.Ala2356=) c.1650A>C (p.Ala550=) c.1242A>C (p.Ala414=) n.3731A>C c.25A>C c.7116A>C (p.Ala2372=) c.7086A>C (p.Ala2362=) c.7023A>C (p.Ala2341=) c.6021A>C (p.Ala2007=) c.469A>C c.7222A>C (n.7222A>C) c.229A>C n.328A>C n.500A>C c.7077A>C (p.Ala2359=) c.7053A>C (p.Ala2351=) c.7113A>C (p.Ala2371=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.31343032A>G	CA499236812	NF1	c.7068A>G (p.Ala2356=) c.1650A>G (p.Ala550=) c.1242A>G (p.Ala414=) n.3731A>G c.25A>G c.7116A>G (p.Ala2372=) c.7086A>G (p.Ala2362=) c.7023A>G (p.Ala2341=) c.6021A>G (p.Ala2007=) c.469A>G c.7222A>G (n.7222A>G) c.229A>G n.328A>G n.500A>G c.7077A>G (p.Ala2359=) c.7053A>G (p.Ala2351=) c.7113A>G (p.Ala2371=)
17	g.31343032A>T	CA499236813	NF1	c.7068A>T (p.Ala2356=) c.1650A>T (p.Ala550=) c.1242A>T (p.Ala414=) n.3731A>T c.25A>T c.7116A>T (p.Ala2372=) c.7086A>T (p.Ala2362=) c.7023A>T (p.Ala2341=) c.6021A>T (p.Ala2007=) c.469A>T c.7222A>T (n.7222A>T) c.229A>T n.328A>T n.500A>T c.7077A>T (p.Ala2359=) c.7053A>T (p.Ala2351=) c.7113A>T (p.Ala2371=)
17	g.31343033A=	CA2255605068	NF1	c.7069A= (p.Ile2357=) c.1651A= (p.Ile551=) c.1243A= (p.Ile415=) n.3732A= c.26A= c.7117A= (p.Ile2373=) c.7087A= (p.Ile2363=) c.7024A= (p.Ile2342=) c.6022A= (p.Ile2008=) c.470A= c.7223A= (n.7223A=) c.230A= n.329A= n.501A= c.7078A= (p.Ile2360=) c.7054A= (p.Ile2352=) c.7114A= (p.Ile2372=)
17	g.31343033A>C	CA399015555	NF1	c.7069A>C (p.Ile2357Leu) c.1651A>C (p.Ile551Leu) c.1243A>C (p.Ile415Leu) n.3732A>C c.26A>C c.7117A>C (p.Ile2373Leu) c.7087A>C (p.Ile2363Leu) c.7024A>C (p.Ile2342Leu) c.6022A>C (p.Ile2008Leu) c.470A>C c.7223A>C (n.7223A>C) c.230A>C n.329A>C n.501A>C c.7078A>C (p.Ile2360Leu) c.7054A>C (p.Ile2352Leu) c.7114A>C (p.Ile2372Leu)	gnomAD v4
17	g.31343033A>G	CA198298	NF1	c.7069A>G (p.Ile2357Val) c.1651A>G (p.Ile551Val) c.1243A>G (p.Ile415Val) n.3732A>G c.26A>G c.7117A>G (p.Ile2373Val) c.7087A>G (p.Ile2363Val) c.7024A>G (p.Ile2342Val) c.6022A>G (p.Ile2008Val) c.470A>G c.7223A>G (n.7223A>G) c.230A>G n.329A>G n.501A>G c.7078A>G (p.Ile2360Val) c.7054A>G (p.Ile2352Val) c.7114A>G (p.Ile2372Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343033A>T	CA399015554	NF1	c.7069A>T (p.Ile2357Phe) c.1651A>T (p.Ile551Phe) c.1243A>T (p.Ile415Phe) n.3732A>T c.26A>T c.7117A>T (p.Ile2373Phe) c.7087A>T (p.Ile2363Phe) c.7024A>T (p.Ile2342Phe) c.6022A>T (p.Ile2008Phe) c.470A>T c.7223A>T (n.7223A>T) c.230A>T n.329A>T n.501A>T c.7078A>T (p.Ile2360Phe) c.7054A>T (p.Ile2352Phe) c.7114A>T (p.Ile2372Phe)	dbSNP
17	g.31343034T>A	CA399015556	NF1	c.7070T>A (p.Ile2357Asn) c.1652T>A (p.Ile551Asn) c.1244T>A (p.Ile415Asn) n.3733T>A c.27T>A c.7118T>A (p.Ile2373Asn) c.7088T>A (p.Ile2363Asn) c.7025T>A (p.Ile2342Asn) c.6023T>A (p.Ile2008Asn) c.471T>A c.7224T>A (n.7224T>A) c.231T>A n.330T>A n.502T>A c.7079T>A (p.Ile2360Asn) c.7055T>A (p.Ile2352Asn) c.7115T>A (p.Ile2372Asn)
17	g.31343034T>C	CA399015557	NF1	c.7070T>C (p.Ile2357Thr) c.1652T>C (p.Ile551Thr) c.1244T>C (p.Ile415Thr) n.3733T>C c.27T>C c.7118T>C (p.Ile2373Thr) c.7088T>C (p.Ile2363Thr) c.7025T>C (p.Ile2342Thr) c.6023T>C (p.Ile2008Thr) c.471T>C c.7224T>C (n.7224T>C) c.231T>C n.330T>C n.502T>C c.7079T>C (p.Ile2360Thr) c.7055T>C (p.Ile2352Thr) c.7115T>C (p.Ile2372Thr)
17	g.31343034T>G	CA399015558	NF1	c.7070T>G (p.Ile2357Ser) c.1652T>G (p.Ile551Ser) c.1244T>G (p.Ile415Ser) n.3733T>G c.27T>G c.7118T>G (p.Ile2373Ser) c.7088T>G (p.Ile2363Ser) c.7025T>G (p.Ile2342Ser) c.6023T>G (p.Ile2008Ser) c.471T>G c.7224T>G (n.7224T>G) c.231T>G n.330T>G n.502T>G c.7079T>G (p.Ile2360Ser) c.7055T>G (p.Ile2352Ser) c.7115T>G (p.Ile2372Ser)
17	g.31343034T=	CA2255605069	NF1	c.7070T= (p.Ile2357=) c.1652T= (p.Ile551=) c.1244T= (p.Ile415=) n.3733T= c.27T= c.7118T= (p.Ile2373=) c.7088T= (p.Ile2363=) c.7025T= (p.Ile2342=) c.6023T= (p.Ile2008=) c.471T= c.7224T= (n.7224T=) c.231T= n.330T= n.502T= c.7079T= (p.Ile2360=) c.7055T= (p.Ile2352=) c.7115T= (p.Ile2372=)
17	g.31343035C>A	CA499236814	NF1	c.7071C>A (p.Ile2357=) c.1653C>A (p.Ile551=) c.1245C>A (p.Ile415=) n.3734C>A c.28C>A c.7119C>A (p.Ile2373=) c.7089C>A (p.Ile2363=) c.7026C>A (p.Ile2342=) c.6024C>A (p.Ile2008=) c.472C>A c.7225C>A (n.7225C>A) c.232C>A n.331C>A n.503C>A c.7080C>A (p.Ile2360=) c.7056C>A (p.Ile2352=) c.7116C>A (p.Ile2372=)
17	g.31343035C=	CA2255605070	NF1	c.7071C= (p.Ile2357=) c.1653C= (p.Ile551=) c.1245C= (p.Ile415=) n.3734C= c.28C= c.7119C= (p.Ile2373=) c.7089C= (p.Ile2363=) c.7026C= (p.Ile2342=) c.6024C= (p.Ile2008=) c.472C= c.7225C= (n.7225C=) c.232C= n.331C= n.503C= c.7080C= (p.Ile2360=) c.7056C= (p.Ile2352=) c.7116C= (p.Ile2372=)
17	g.31343035C>G	CA399015559	NF1	c.7071C>G (p.Ile2357Met) c.1653C>G (p.Ile551Met) c.1245C>G (p.Ile415Met) n.3734C>G c.28C>G c.7119C>G (p.Ile2373Met) c.7089C>G (p.Ile2363Met) c.7026C>G (p.Ile2342Met) c.6024C>G (p.Ile2008Met) c.472C>G c.7225C>G (n.7225C>G) c.232C>G n.331C>G n.503C>G c.7080C>G (p.Ile2360Met) c.7056C>G (p.Ile2352Met) c.7116C>G (p.Ile2372Met)	ClinVar dbSNP gnomAD v4
17	g.31343035C>T	CA499236815	NF1	c.7071C>T (p.Ile2357=) c.1653C>T (p.Ile551=) c.1245C>T (p.Ile415=) n.3734C>T c.28C>T c.7119C>T (p.Ile2373=) c.7089C>T (p.Ile2363=) c.7026C>T (p.Ile2342=) c.6024C>T (p.Ile2008=) c.472C>T c.7225C>T (n.7225C>T) c.232C>T n.331C>T n.503C>T c.7080C>T (p.Ile2360=) c.7056C>T (p.Ile2352=) c.7116C>T (p.Ile2372=)	ClinVar dbSNP
17	g.31343036dup	CA915949800	NF1	c.7072dup (p.Arg2358ProfsTer22) c.1654dup (p.Arg552ProfsTer22) c.1246dup (p.Arg416ProfsTer22) n.3735dup c.29dup c.7120dup (p.Arg2374ProfsTer22) c.7090dup (p.Arg2364ProfsTer22) c.7027dup (p.Arg2343ProfsTer22) c.6025dup (p.Arg2009ProfsTer22) c.473dup c.7226dup (n.7226dup) c.233dup n.332dup n.504dup c.7081dup (p.Arg2361ProfsTer22) c.7057dup (p.Arg2353ProfsTer22) c.7117dup (p.Arg2373ProfsTer22)
17	g.31343036del	CA2733271241	NF1	c.7072del (p.Arg2358GlyfsTer?) c.1654del (p.Arg552GlyfsTer?) c.1246del (p.Arg416GlyfsTer?) n.3735del c.29del c.7120del (p.Arg2374GlyfsTer?) c.7090del (p.Arg2364GlyfsTer?) c.7027del (p.Arg2343GlyfsTer?) c.6025del (p.Arg2009GlyfsTer?) c.473del c.7226del (n.7226del) c.233del n.332del n.504del c.7081del (p.Arg2361GlyfsTer?) c.7057del (p.Arg2353GlyfsTer?) c.7117del (p.Arg2373GlyfsTer?)	dbSNP
17	g.31343036C>A	CA499236816	NF1	c.7072C>A (p.Arg2358=) c.1654C>A (p.Arg552=) c.1246C>A (p.Arg416=) n.3735C>A c.29C>A c.7120C>A (p.Arg2374=) c.7090C>A (p.Arg2364=) c.7027C>A (p.Arg2343=) c.6025C>A (p.Arg2009=) c.473C>A c.7226C>A (n.7226C>A) c.233C>A n.332C>A n.504C>A c.7081C>A (p.Arg2361=) c.7057C>A (p.Arg2353=) c.7117C>A (p.Arg2373=)	ClinVar dbSNP
17	g.31343036C=	CA2255605071	NF1	c.7072C= (p.Arg2358=) c.1654C= (p.Arg552=) c.1246C= (p.Arg416=) n.3735C= c.29C= c.7120C= (p.Arg2374=) c.7090C= (p.Arg2364=) c.7027C= (p.Arg2343=) c.6025C= (p.Arg2009=) c.473C= c.7226C= (n.7226C=) c.233C= n.332C= n.504C= c.7081C= (p.Arg2361=) c.7057C= (p.Arg2353=) c.7117C= (p.Arg2373=)
17	g.31343036C>G	CA399015560	NF1	c.7072C>G (p.Arg2358Gly) c.1654C>G (p.Arg552Gly) c.1246C>G (p.Arg416Gly) n.3735C>G c.29C>G c.7120C>G (p.Arg2374Gly) c.7090C>G (p.Arg2364Gly) c.7027C>G (p.Arg2343Gly) c.6025C>G (p.Arg2009Gly) c.473C>G c.7226C>G (n.7226C>G) c.233C>G n.332C>G n.504C>G c.7081C>G (p.Arg2361Gly) c.7057C>G (p.Arg2353Gly) c.7117C>G (p.Arg2373Gly)	dbSNP
17	g.31343036C>T	CA399015561	NF1	c.7072C>T (p.Arg2358Trp) c.1654C>T (p.Arg552Trp) c.1246C>T (p.Arg416Trp) n.3735C>T c.29C>T c.7120C>T (p.Arg2374Trp) c.7090C>T (p.Arg2364Trp) c.7027C>T (p.Arg2343Trp) c.6025C>T (p.Arg2009Trp) c.473C>T c.7226C>T (n.7226C>T) c.233C>T n.332C>T n.504C>T c.7081C>T (p.Arg2361Trp) c.7057C>T (p.Arg2353Trp) c.7117C>T (p.Arg2373Trp)	ClinVar dbSNP gnomAD v4
17	g.31343037G>A	CA399015562	NF1	c.7073G>A (p.Arg2358Gln) c.1655G>A (p.Arg552Gln) c.1247G>A (p.Arg416Gln) n.3736G>A c.30G>A c.7121G>A (p.Arg2374Gln) c.7091G>A (p.Arg2364Gln) c.7028G>A (p.Arg2343Gln) c.6026G>A (p.Arg2009Gln) c.474G>A c.7227G>A (n.7227G>A) c.234G>A n.333G>A n.505G>A c.7082G>A (p.Arg2361Gln) c.7058G>A (p.Arg2353Gln) c.7118G>A (p.Arg2373Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343037G>C	CA399015563	NF1	c.7073G>C (p.Arg2358Pro) c.1655G>C (p.Arg552Pro) c.1247G>C (p.Arg416Pro) n.3736G>C c.30G>C c.7121G>C (p.Arg2374Pro) c.7091G>C (p.Arg2364Pro) c.7028G>C (p.Arg2343Pro) c.6026G>C (p.Arg2009Pro) c.474G>C c.7227G>C (n.7227G>C) c.234G>C n.333G>C n.505G>C c.7082G>C (p.Arg2361Pro) c.7058G>C (p.Arg2353Pro) c.7118G>C (p.Arg2373Pro)	dbSNP
17	g.31343037G=	CA2255605072	NF1	c.7073G= (p.Arg2358=) c.1655G= (p.Arg552=) c.1247G= (p.Arg416=) n.3736G= c.30G= c.7121G= (p.Arg2374=) c.7091G= (p.Arg2364=) c.7028G= (p.Arg2343=) c.6026G= (p.Arg2009=) c.474G= c.7227G= (n.7227G=) c.234G= n.333G= n.505G= c.7082G= (p.Arg2361=) c.7058G= (p.Arg2353=) c.7118G= (p.Arg2373=)
17	g.31343037G>T	CA399015564	NF1	c.7073G>T (p.Arg2358Leu) c.1655G>T (p.Arg552Leu) c.1247G>T (p.Arg416Leu) n.3736G>T c.30G>T c.7121G>T (p.Arg2374Leu) c.7091G>T (p.Arg2364Leu) c.7028G>T (p.Arg2343Leu) c.6026G>T (p.Arg2009Leu) c.474G>T c.7227G>T (n.7227G>T) c.234G>T n.333G>T n.505G>T c.7082G>T (p.Arg2361Leu) c.7058G>T (p.Arg2353Leu) c.7118G>T (p.Arg2373Leu)
17	g.31343038del	CA2573153903	NF1	c.7074del (p.Asn2359IlefsTer?) c.1656del (p.Asn553IlefsTer?) c.1248del (p.Asn417IlefsTer?) n.3737del c.31del c.7122del (p.Asn2375IlefsTer?) c.7092del (p.Asn2365IlefsTer?) c.7029del (p.Asn2344IlefsTer?) c.6027del (p.Asn2010IlefsTer?) c.475del c.7228del (n.7228del) c.235del n.334del n.506del c.7083del (p.Asn2362IlefsTer?) c.7059del (p.Asn2354IlefsTer?) c.7119del (p.Asn2374IlefsTer?)	ClinVar dbSNP
17	g.31343038G>A	CA8487497	NF1	c.7074G>A (p.Arg2358=) c.1656G>A (p.Arg552=) c.1248G>A (p.Arg416=) n.3737G>A c.31G>A c.7122G>A (p.Arg2374=) c.7092G>A (p.Arg2364=) c.7029G>A (p.Arg2343=) c.6027G>A (p.Arg2009=) c.475G>A c.7228G>A (n.7228G>A) c.235G>A n.334G>A n.506G>A c.7083G>A (p.Arg2361=) c.7059G>A (p.Arg2353=) c.7119G>A (p.Arg2373=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343038G>C	CA499236817	NF1	c.7074G>C (p.Arg2358=) c.1656G>C (p.Arg552=) c.1248G>C (p.Arg416=) n.3737G>C c.31G>C c.7122G>C (p.Arg2374=) c.7092G>C (p.Arg2364=) c.7029G>C (p.Arg2343=) c.6027G>C (p.Arg2009=) c.475G>C c.7228G>C (n.7228G>C) c.235G>C n.334G>C n.506G>C c.7083G>C (p.Arg2361=) c.7059G>C (p.Arg2353=) c.7119G>C (p.Arg2373=)	dbSNP
17	g.31343038G=	CA2255605073	NF1	c.7074G= (p.Arg2358=) c.1656G= (p.Arg552=) c.1248G= (p.Arg416=) n.3737G= c.31G= c.7122G= (p.Arg2374=) c.7092G= (p.Arg2364=) c.7029G= (p.Arg2343=) c.6027G= (p.Arg2009=) c.475G= c.7228G= (n.7228G=) c.235G= n.334G= n.506G= c.7083G= (p.Arg2361=) c.7059G= (p.Arg2353=) c.7119G= (p.Arg2373=)
17	g.31343038G>T	CA499236818	NF1	c.7074G>T (p.Arg2358=) c.1656G>T (p.Arg552=) c.1248G>T (p.Arg416=) n.3737G>T c.31G>T c.7122G>T (p.Arg2374=) c.7092G>T (p.Arg2364=) c.7029G>T (p.Arg2343=) c.6027G>T (p.Arg2009=) c.475G>T c.7228G>T (n.7228G>T) c.235G>T n.334G>T n.506G>T c.7083G>T (p.Arg2361=) c.7059G>T (p.Arg2353=) c.7119G>T (p.Arg2373=)
17	g.31343039A>C	CA399015567	NF1	c.7075A>C (p.Asn2359His) c.1657A>C (p.Asn553His) c.1249A>C (p.Asn417His) n.3738A>C c.32A>C c.7123A>C (p.Asn2375His) c.7093A>C (p.Asn2365His) c.7030A>C (p.Asn2344His) c.6028A>C (p.Asn2010His) c.476A>C c.7229A>C (n.7229A>C) c.236A>C n.335A>C n.507A>C c.7084A>C (p.Asn2362His) c.7060A>C (p.Asn2354His) c.7120A>C (p.Asn2374His)
17	g.31343039A>G	CA399015566	NF1	c.7075A>G (p.Asn2359Asp) c.1657A>G (p.Asn553Asp) c.1249A>G (p.Asn417Asp) n.3738A>G c.32A>G c.7123A>G (p.Asn2375Asp) c.7093A>G (p.Asn2365Asp) c.7030A>G (p.Asn2344Asp) c.6028A>G (p.Asn2010Asp) c.476A>G c.7229A>G (n.7229A>G) c.236A>G n.335A>G n.507A>G c.7084A>G (p.Asn2362Asp) c.7060A>G (p.Asn2354Asp) c.7120A>G (p.Asn2374Asp)
17	g.31343039A>T	CA399015565	NF1	c.7075A>T (p.Asn2359Tyr) c.1657A>T (p.Asn553Tyr) c.1249A>T (p.Asn417Tyr) n.3738A>T c.32A>T c.7123A>T (p.Asn2375Tyr) c.7093A>T (p.Asn2365Tyr) c.7030A>T (p.Asn2344Tyr) c.6028A>T (p.Asn2010Tyr) c.476A>T c.7229A>T (n.7229A>T) c.236A>T n.335A>T n.507A>T c.7084A>T (p.Asn2362Tyr) c.7060A>T (p.Asn2354Tyr) c.7120A>T (p.Asn2374Tyr)
17	g.31343040del	CA2573153904	NF1	c.7076del (p.Asn2359IlefsTer?) c.1658del (p.Asn553IlefsTer?) c.1250del (p.Asn417IlefsTer?) n.3739del c.33del c.7124del (p.Asn2375IlefsTer?) c.7094del (p.Asn2365IlefsTer?) c.7031del (p.Asn2344IlefsTer?) c.6029del (p.Asn2010IlefsTer?) c.477del c.7230del (n.7230del) c.237del n.336del n.508del c.7085del (p.Asn2362IlefsTer?) c.7061del (p.Asn2354IlefsTer?) c.7121del (p.Asn2374IlefsTer?)	ClinVar dbSNP
17	g.31343040A>C	CA399015568	NF1	c.7076A>C (p.Asn2359Thr) c.1658A>C (p.Asn553Thr) c.1250A>C (p.Asn417Thr) n.3739A>C c.33A>C c.7124A>C (p.Asn2375Thr) c.7094A>C (p.Asn2365Thr) c.7031A>C (p.Asn2344Thr) c.6029A>C (p.Asn2010Thr) c.477A>C c.7230A>C (n.7230A>C) c.237A>C n.336A>C n.508A>C c.7085A>C (p.Asn2362Thr) c.7061A>C (p.Asn2354Thr) c.7121A>C (p.Asn2374Thr)
17	g.31343040A>G	CA399015569	NF1	c.7076A>G (p.Asn2359Ser) c.1658A>G (p.Asn553Ser) c.1250A>G (p.Asn417Ser) n.3739A>G c.33A>G c.7124A>G (p.Asn2375Ser) c.7094A>G (p.Asn2365Ser) c.7031A>G (p.Asn2344Ser) c.6029A>G (p.Asn2010Ser) c.477A>G c.7230A>G (n.7230A>G) c.237A>G n.336A>G n.508A>G c.7085A>G (p.Asn2362Ser) c.7061A>G (p.Asn2354Ser) c.7121A>G (p.Asn2374Ser)
17	g.31343040A>T	CA399015570	NF1	c.7076A>T (p.Asn2359Ile) c.1658A>T (p.Asn553Ile) c.1250A>T (p.Asn417Ile) n.3739A>T c.33A>T c.7124A>T (p.Asn2375Ile) c.7094A>T (p.Asn2365Ile) c.7031A>T (p.Asn2344Ile) c.6029A>T (p.Asn2010Ile) c.477A>T c.7230A>T (n.7230A>T) c.237A>T n.336A>T n.508A>T c.7085A>T (p.Asn2362Ile) c.7061A>T (p.Asn2354Ile) c.7121A>T (p.Asn2374Ile)	dbSNP
17	g.31343041T>A	CA399015571	NF1	c.7077T>A (p.Asn2359Lys) c.1659T>A (p.Asn553Lys) c.1251T>A (p.Asn417Lys) n.3740T>A c.34T>A c.7125T>A (p.Asn2375Lys) c.7095T>A (p.Asn2365Lys) c.7032T>A (p.Asn2344Lys) c.6030T>A (p.Asn2010Lys) c.478T>A c.7231T>A (n.7231T>A) c.238T>A n.337T>A n.509T>A c.7086T>A (p.Asn2362Lys) c.7062T>A (p.Asn2354Lys) c.7122T>A (p.Asn2374Lys)	dbSNP
17	g.31343041T>C	CA289396199	NF1	c.7077T>C (p.Asn2359=) c.1659T>C (p.Asn553=) c.1251T>C (p.Asn417=) n.3740T>C c.34T>C c.7125T>C (p.Asn2375=) c.7095T>C (p.Asn2365=) c.7032T>C (p.Asn2344=) c.6030T>C (p.Asn2010=) c.478T>C c.7231T>C (n.7231T>C) c.238T>C n.337T>C n.509T>C c.7086T>C (p.Asn2362=) c.7062T>C (p.Asn2354=) c.7122T>C (p.Asn2374=)	ClinVar dbSNP
17	g.31343041T>G	CA399015572	NF1	c.7077T>G (p.Asn2359Lys) c.1659T>G (p.Asn553Lys) c.1251T>G (p.Asn417Lys) n.3740T>G c.34T>G c.7125T>G (p.Asn2375Lys) c.7095T>G (p.Asn2365Lys) c.7032T>G (p.Asn2344Lys) c.6030T>G (p.Asn2010Lys) c.478T>G c.7231T>G (n.7231T>G) c.238T>G n.337T>G n.509T>G c.7086T>G (p.Asn2362Lys) c.7062T>G (p.Asn2354Lys) c.7122T>G (p.Asn2374Lys)
17	g.31343041T=	CA2255605074	NF1	c.7077T= (p.Asn2359=) c.1659T= (p.Asn553=) c.1251T= (p.Asn417=) n.3740T= c.34T= c.7125T= (p.Asn2375=) c.7095T= (p.Asn2365=) c.7032T= (p.Asn2344=) c.6030T= (p.Asn2010=) c.478T= c.7231T= (n.7231T=) c.238T= n.337T= n.509T= c.7086T= (p.Asn2362=) c.7062T= (p.Asn2354=) c.7122T= (p.Asn2374=)
17	g.31343041_31343042dup	CA2739265557	NF1	c.7077_7078dup (p.Pro2360LeufsTer31) c.1659_1660dup (p.Pro554LeufsTer31) c.1251_1252dup (p.Pro418LeufsTer31) n.3740_3741dup c.34_35dup c.7125_7126dup (p.Pro2376LeufsTer31) c.7095_7096dup (p.Pro2366LeufsTer31) c.7032_7033dup (p.Pro2345LeufsTer31) c.6030_6031dup (p.Pro2011LeufsTer31) c.478_479dup c.7231_7232dup (n.7231_7232dup) c.238_239dup n.337_338dup n.509_510dup c.7086_7087dup (p.Pro2363LeufsTer31) c.7062_7063dup (p.Pro2355LeufsTer31) c.7122_7123dup (p.Pro2375LeufsTer31)	ClinVar
17	g.31343041_31343042insG	CA2695225445	NF1	c.7077_7078insG (p.Pro2360AlafsTer20) c.1659_1660insG (p.Pro554AlafsTer20) c.1251_1252insG (p.Pro418AlafsTer20) n.3740_3741insG c.34_35insG c.7125_7126insG (p.Pro2376AlafsTer20) c.7095_7096insG (p.Pro2366AlafsTer20) c.7032_7033insG (p.Pro2345AlafsTer20) c.6030_6031insG (p.Pro2011AlafsTer20) c.478_479insG c.7231_7232insG (n.7231_7232insG) c.238_239insG n.337_338insG n.509_510insG c.7086_7087insG (p.Pro2363AlafsTer20) c.7062_7063insG (p.Pro2355AlafsTer20) c.7122_7123insG (p.Pro2375AlafsTer20)
17	g.31343042C>A	CA399015573	NF1	c.7078C>A (p.Pro2360Thr) c.1660C>A (p.Pro554Thr) c.1252C>A (p.Pro418Thr) n.3741C>A c.35C>A c.7126C>A (p.Pro2376Thr) c.7096C>A (p.Pro2366Thr) c.7033C>A (p.Pro2345Thr) c.6031C>A (p.Pro2011Thr) c.479C>A c.7232C>A (n.7232C>A) c.239C>A n.338C>A n.510C>A c.7087C>A (p.Pro2363Thr) c.7063C>A (p.Pro2355Thr) c.7123C>A (p.Pro2375Thr)
17	g.31343042C>G	CA399015574	NF1	c.7078C>G (p.Pro2360Ala) c.1660C>G (p.Pro554Ala) c.1252C>G (p.Pro418Ala) n.3741C>G c.35C>G c.7126C>G (p.Pro2376Ala) c.7096C>G (p.Pro2366Ala) c.7033C>G (p.Pro2345Ala) c.6031C>G (p.Pro2011Ala) c.479C>G c.7232C>G (n.7232C>G) c.239C>G n.338C>G n.510C>G c.7087C>G (p.Pro2363Ala) c.7063C>G (p.Pro2355Ala) c.7123C>G (p.Pro2375Ala)	dbSNP
17	g.31343042C>T	CA399015575	NF1	c.7078C>T (p.Pro2360Ser) c.1660C>T (p.Pro554Ser) c.1252C>T (p.Pro418Ser) n.3741C>T c.35C>T c.7126C>T (p.Pro2376Ser) c.7096C>T (p.Pro2366Ser) c.7033C>T (p.Pro2345Ser) c.6031C>T (p.Pro2011Ser) c.479C>T c.7232C>T (n.7232C>T) c.239C>T n.338C>T n.510C>T c.7087C>T (p.Pro2363Ser) c.7063C>T (p.Pro2355Ser) c.7123C>T (p.Pro2375Ser)	dbSNP
17	g.31343043del	CA2739265558	NF1	c.7079del (p.Pro2360LeufsTer30) c.1661del (p.Pro554LeufsTer30) c.1253del (p.Pro418LeufsTer30) n.3742del c.36del c.7127del (p.Pro2376LeufsTer30) c.7097del (p.Pro2366LeufsTer30) c.7034del (p.Pro2345LeufsTer30) c.6032del (p.Pro2011LeufsTer30) c.480del c.7233del (n.7233del) c.240del n.339del n.511del c.7088del (p.Pro2363LeufsTer30) c.7064del (p.Pro2355LeufsTer30) c.7124del (p.Pro2375LeufsTer30)	ClinVar
17	g.31343043C>A	CA399015576	NF1	c.7079C>A (p.Pro2360His) c.1661C>A (p.Pro554His) c.1253C>A (p.Pro418His) n.3742C>A c.36C>A c.7127C>A (p.Pro2376His) c.7097C>A (p.Pro2366His) c.7034C>A (p.Pro2345His) c.6032C>A (p.Pro2011His) c.480C>A c.7233C>A (n.7233C>A) c.240C>A n.339C>A n.511C>A c.7088C>A (p.Pro2363His) c.7064C>A (p.Pro2355His) c.7124C>A (p.Pro2375His)	dbSNP
17	g.31343043C=	CA2255605075	NF1	c.7079C= (p.Pro2360=) c.1661C= (p.Pro554=) c.1253C= (p.Pro418=) n.3742C= c.36C= c.7127C= (p.Pro2376=) c.7097C= (p.Pro2366=) c.7034C= (p.Pro2345=) c.6032C= (p.Pro2011=) c.480C= c.7233C= (n.7233C=) c.240C= n.339C= n.511C= c.7088C= (p.Pro2363=) c.7064C= (p.Pro2355=) c.7124C= (p.Pro2375=)
17	g.31343043C>G	CA399015577	NF1	c.7079C>G (p.Pro2360Arg) c.1661C>G (p.Pro554Arg) c.1253C>G (p.Pro418Arg) n.3742C>G c.36C>G c.7127C>G (p.Pro2376Arg) c.7097C>G (p.Pro2366Arg) c.7034C>G (p.Pro2345Arg) c.6032C>G (p.Pro2011Arg) c.480C>G c.7233C>G (n.7233C>G) c.240C>G n.339C>G n.511C>G c.7088C>G (p.Pro2363Arg) c.7064C>G (p.Pro2355Arg) c.7124C>G (p.Pro2375Arg)	ClinVar dbSNP
17	g.31343043C>T	CA399015578	NF1	c.7079C>T (p.Pro2360Leu) c.1661C>T (p.Pro554Leu) c.1253C>T (p.Pro418Leu) n.3742C>T c.36C>T c.7127C>T (p.Pro2376Leu) c.7097C>T (p.Pro2366Leu) c.7034C>T (p.Pro2345Leu) c.6032C>T (p.Pro2011Leu) c.480C>T c.7233C>T (n.7233C>T) c.240C>T n.339C>T n.511C>T c.7088C>T (p.Pro2363Leu) c.7064C>T (p.Pro2355Leu) c.7124C>T (p.Pro2375Leu)	ClinVar dbSNP
17	g.31343044T>A	CA499236819	NF1	c.7080T>A (p.Pro2360=) c.1662T>A (p.Pro554=) c.1254T>A (p.Pro418=) n.3743T>A c.37T>A c.7128T>A (p.Pro2376=) c.7098T>A (p.Pro2366=) c.7035T>A (p.Pro2345=) c.6033T>A (p.Pro2011=) c.481T>A c.7234T>A (n.7234T>A) c.241T>A n.340T>A n.512T>A c.7089T>A (p.Pro2363=) c.7065T>A (p.Pro2355=) c.7125T>A (p.Pro2375=)	dbSNP
17	g.31343044T>C	CA499236820	NF1	c.7080T>C (p.Pro2360=) c.1662T>C (p.Pro554=) c.1254T>C (p.Pro418=) n.3743T>C c.37T>C c.7128T>C (p.Pro2376=) c.7098T>C (p.Pro2366=) c.7035T>C (p.Pro2345=) c.6033T>C (p.Pro2011=) c.481T>C c.7234T>C (n.7234T>C) c.241T>C n.340T>C n.512T>C c.7089T>C (p.Pro2363=) c.7065T>C (p.Pro2355=) c.7125T>C (p.Pro2375=)	dbSNP
17	g.31343044T>G	CA499236821	NF1	c.7080T>G (p.Pro2360=) c.1662T>G (p.Pro554=) c.1254T>G (p.Pro418=) n.3743T>G c.37T>G c.7128T>G (p.Pro2376=) c.7098T>G (p.Pro2366=) c.7035T>G (p.Pro2345=) c.6033T>G (p.Pro2011=) c.481T>G c.7234T>G (n.7234T>G) c.241T>G n.340T>G n.512T>G c.7089T>G (p.Pro2363=) c.7065T>G (p.Pro2355=) c.7125T>G (p.Pro2375=)
17	g.31343045C>A	CA399015579	NF1	c.7081C>A (p.Leu2361Met) c.1663C>A (p.Leu555Met) c.1255C>A (p.Leu419Met) n.3744C>A c.38C>A c.7129C>A (p.Leu2377Met) c.7099C>A (p.Leu2367Met) c.7036C>A (p.Leu2346Met) c.6034C>A (p.Leu2012Met) c.482C>A c.7235C>A (n.7235C>A) c.242C>A n.341C>A n.513C>A c.7090C>A (p.Leu2364Met) c.7066C>A (p.Leu2356Met) c.7126C>A (p.Leu2376Met)	dbSNP
17	g.31343045C=	CA2255605076	NF1	c.7081C= (p.Leu2361=) c.1663C= (p.Leu555=) c.1255C= (p.Leu419=) n.3744C= c.38C= c.7129C= (p.Leu2377=) c.7099C= (p.Leu2367=) c.7036C= (p.Leu2346=) c.6034C= (p.Leu2012=) c.482C= c.7235C= (n.7235C=) c.242C= n.341C= n.513C= c.7090C= (p.Leu2364=) c.7066C= (p.Leu2356=) c.7126C= (p.Leu2376=)
17	g.31343045C>G	CA399015580	NF1	c.7081C>G (p.Leu2361Val) c.1663C>G (p.Leu555Val) c.1255C>G (p.Leu419Val) n.3744C>G c.38C>G c.7129C>G (p.Leu2377Val) c.7099C>G (p.Leu2367Val) c.7036C>G (p.Leu2346Val) c.6034C>G (p.Leu2012Val) c.482C>G c.7235C>G (n.7235C>G) c.242C>G n.341C>G n.513C>G c.7090C>G (p.Leu2364Val) c.7066C>G (p.Leu2356Val) c.7126C>G (p.Leu2376Val)	ClinVar dbSNP
17	g.31343045C>T	CA499236822	NF1	c.7081C>T (p.Leu2361=) c.1663C>T (p.Leu555=) c.1255C>T (p.Leu419=) n.3744C>T c.38C>T c.7129C>T (p.Leu2377=) c.7099C>T (p.Leu2367=) c.7036C>T (p.Leu2346=) c.6034C>T (p.Leu2012=) c.482C>T c.7235C>T (n.7235C>T) c.242C>T n.341C>T n.513C>T c.7090C>T (p.Leu2364=) c.7066C>T (p.Leu2356=) c.7126C>T (p.Leu2376=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.31343046T>A	CA399015583	NF1	c.7082T>A (p.Leu2361Gln) c.1664T>A (p.Leu555Gln) c.1256T>A (p.Leu419Gln) n.3745T>A c.39T>A c.7130T>A (p.Leu2377Gln) c.7100T>A (p.Leu2367Gln) c.7037T>A (p.Leu2346Gln) c.6035T>A (p.Leu2012Gln) c.483T>A c.7236T>A (n.7236T>A) c.243T>A n.342T>A n.514T>A c.7091T>A (p.Leu2364Gln) c.7067T>A (p.Leu2356Gln) c.7127T>A (p.Leu2376Gln)	COSMIC COSMIC COSMIC
17	g.31343046T>C	CA399015581	NF1	c.7082T>C (p.Leu2361Pro) c.1664T>C (p.Leu555Pro) c.1256T>C (p.Leu419Pro) n.3745T>C c.39T>C c.7130T>C (p.Leu2377Pro) c.7100T>C (p.Leu2367Pro) c.7037T>C (p.Leu2346Pro) c.6035T>C (p.Leu2012Pro) c.483T>C c.7236T>C (n.7236T>C) c.243T>C n.342T>C n.514T>C c.7091T>C (p.Leu2364Pro) c.7067T>C (p.Leu2356Pro) c.7127T>C (p.Leu2376Pro)
17	g.31343046T>G	CA399015582	NF1	c.7082T>G (p.Leu2361Arg) c.1664T>G (p.Leu555Arg) c.1256T>G (p.Leu419Arg) n.3745T>G c.39T>G c.7130T>G (p.Leu2377Arg) c.7100T>G (p.Leu2367Arg) c.7037T>G (p.Leu2346Arg) c.6035T>G (p.Leu2012Arg) c.483T>G c.7236T>G (n.7236T>G) c.243T>G n.342T>G n.514T>G c.7091T>G (p.Leu2364Arg) c.7067T>G (p.Leu2356Arg) c.7127T>G (p.Leu2376Arg)
17	g.31343046_31343047delinsTG	CA2255605077	NF1	c.7082_7083delinsTG (p.Leu2361=) c.1664_1665delinsTG (p.Leu555=) c.1256_1257delinsTG (p.Leu419=) n.3745_3746delinsTG c.39_40delinsTG c.7130_7131delinsTG (p.Leu2377=) c.7100_7101delinsTG (p.Leu2367=) c.7037_7038delinsTG (p.Leu2346=) c.6035_6036delinsTG (p.Leu2012=) c.483_484delinsTG c.7236_7237delinsTG (n.7236_7237delinsTG) c.243_244delinsTG n.342_343delinsTG n.514_515delinsTG c.7091_7092delinsTG (p.Leu2364=) c.7067_7068delinsTG (p.Leu2356=) c.7127_7128delinsTG (p.Leu2376=)
17	g.31343047G>A	CA499236823	NF1	c.7083G>A (p.Leu2361=) c.1665G>A (p.Leu555=) c.1257G>A (p.Leu419=) n.3746G>A c.40G>A c.7131G>A (p.Leu2377=) c.7101G>A (p.Leu2367=) c.7038G>A (p.Leu2346=) c.6036G>A (p.Leu2012=) c.484G>A c.7237G>A (n.7237G>A) c.244G>A n.343G>A n.515G>A c.7092G>A (p.Leu2364=) c.7068G>A (p.Leu2356=) c.7128G>A (p.Leu2376=)	ClinVar dbSNP
17	g.31343047G>C	CA499236824	NF1	c.7083G>C (p.Leu2361=) c.1665G>C (p.Leu555=) c.1257G>C (p.Leu419=) n.3746G>C c.40G>C c.7131G>C (p.Leu2377=) c.7101G>C (p.Leu2367=) c.7038G>C (p.Leu2346=) c.6036G>C (p.Leu2012=) c.484G>C c.7237G>C (n.7237G>C) c.244G>C n.343G>C n.515G>C c.7092G>C (p.Leu2364=) c.7068G>C (p.Leu2356=) c.7128G>C (p.Leu2376=)	dbSNP
17	g.31343047G=	CA2255605078	NF1	c.7083G= (p.Leu2361=) c.1665G= (p.Leu555=) c.1257G= (p.Leu419=) n.3746G= c.40G= c.7131G= (p.Leu2377=) c.7101G= (p.Leu2367=) c.7038G= (p.Leu2346=) c.6036G= (p.Leu2012=) c.484G= c.7237G= (n.7237G=) c.244G= n.343G= n.515G= c.7092G= (p.Leu2364=) c.7068G= (p.Leu2356=) c.7128G= (p.Leu2376=)
17	g.31343047G>T	CA499236825	NF1	c.7083G>T (p.Leu2361=) c.1665G>T (p.Leu555=) c.1257G>T (p.Leu419=) n.3746G>T c.40G>T c.7131G>T (p.Leu2377=) c.7101G>T (p.Leu2367=) c.7038G>T (p.Leu2346=) c.6036G>T (p.Leu2012=) c.484G>T c.7237G>T (n.7237G>T) c.244G>T n.343G>T n.515G>T c.7092G>T (p.Leu2364=) c.7068G>T (p.Leu2356=) c.7128G>T (p.Leu2376=)
17	g.31343048del	CA645369652	NF1	c.7084del (p.Glu2362SerfsTer28) c.1666del (p.Glu556SerfsTer28) c.1258del (p.Glu420SerfsTer28) n.3747del c.41del c.7132del (p.Glu2378SerfsTer28) c.7102del (p.Glu2368SerfsTer28) c.7039del (p.Glu2347SerfsTer28) c.6037del (p.Glu2013SerfsTer28) c.485del c.7238del (n.7238del) c.245del n.344del n.516del c.7093del (p.Glu2365SerfsTer28) c.7069del (p.Glu2357SerfsTer28) c.7129del (p.Glu2377SerfsTer28)	ClinVar dbSNP
17	g.31343048G>A	CA399015584	NF1	c.7084G>A (p.Glu2362Lys) c.1666G>A (p.Glu556Lys) c.1258G>A (p.Glu420Lys) n.3747G>A c.41G>A c.7132G>A (p.Glu2378Lys) c.7102G>A (p.Glu2368Lys) c.7039G>A (p.Glu2347Lys) c.6037G>A (p.Glu2013Lys) c.485G>A c.7238G>A (n.7238G>A) c.245G>A n.344G>A n.516G>A c.7093G>A (p.Glu2365Lys) c.7069G>A (p.Glu2357Lys) c.7129G>A (p.Glu2377Lys)	ClinVar dbSNP
17	g.31343048G>C	CA399015585	NF1	c.7084G>C (p.Glu2362Gln) c.1666G>C (p.Glu556Gln) c.1258G>C (p.Glu420Gln) n.3747G>C c.41G>C c.7132G>C (p.Glu2378Gln) c.7102G>C (p.Glu2368Gln) c.7039G>C (p.Glu2347Gln) c.6037G>C (p.Glu2013Gln) c.485G>C c.7238G>C (n.7238G>C) c.245G>C n.344G>C n.516G>C c.7093G>C (p.Glu2365Gln) c.7069G>C (p.Glu2357Gln) c.7129G>C (p.Glu2377Gln)	ClinVar dbSNP
17	g.31343048G>T	CA399015586	NF1	c.7084G>T (p.Glu2362Ter) c.1666G>T (p.Glu556Ter) c.1258G>T (p.Glu420Ter) n.3747G>T c.41G>T c.7132G>T (p.Glu2378Ter) c.7102G>T (p.Glu2368Ter) c.7039G>T (p.Glu2347Ter) c.6037G>T (p.Glu2013Ter) c.485G>T c.7238G>T (n.7238G>T) c.245G>T n.344G>T n.516G>T c.7093G>T (p.Glu2365Ter) c.7069G>T (p.Glu2357Ter) c.7129G>T (p.Glu2377Ter)	dbSNP
17	g.31343049A>C	CA399015587	NF1	c.7085A>C (p.Glu2362Ala) c.1667A>C (p.Glu556Ala) c.1259A>C (p.Glu420Ala) n.3748A>C c.42A>C c.7133A>C (p.Glu2378Ala) c.7103A>C (p.Glu2368Ala) c.7040A>C (p.Glu2347Ala) c.6038A>C (p.Glu2013Ala) c.486A>C c.7239A>C (n.7239A>C) c.246A>C n.345A>C n.517A>C c.7094A>C (p.Glu2365Ala) c.7070A>C (p.Glu2357Ala) c.7130A>C (p.Glu2377Ala)
17	g.31343049A>G	CA399015588	NF1	c.7085A>G (p.Glu2362Gly) c.1667A>G (p.Glu556Gly) c.1259A>G (p.Glu420Gly) n.3748A>G c.42A>G c.7133A>G (p.Glu2378Gly) c.7103A>G (p.Glu2368Gly) c.7040A>G (p.Glu2347Gly) c.6038A>G (p.Glu2013Gly) c.486A>G c.7239A>G (n.7239A>G) c.246A>G n.345A>G n.517A>G c.7094A>G (p.Glu2365Gly) c.7070A>G (p.Glu2357Gly) c.7130A>G (p.Glu2377Gly)
17	g.31343049A>T	CA399015589	NF1	c.7085A>T (p.Glu2362Val) c.1667A>T (p.Glu556Val) c.1259A>T (p.Glu420Val) n.3748A>T c.42A>T c.7133A>T (p.Glu2378Val) c.7103A>T (p.Glu2368Val) c.7040A>T (p.Glu2347Val) c.6038A>T (p.Glu2013Val) c.486A>T c.7239A>T (n.7239A>T) c.246A>T n.345A>T n.517A>T c.7094A>T (p.Glu2365Val) c.7070A>T (p.Glu2357Val) c.7130A>T (p.Glu2377Val)	dbSNP
17	g.31343050G>A	CA499236826	NF1	c.7086G>A (p.Glu2362=) c.1668G>A (p.Glu556=) c.1260G>A (p.Glu420=) n.3749G>A c.43G>A c.7134G>A (p.Glu2378=) c.7104G>A (p.Glu2368=) c.7041G>A (p.Glu2347=) c.6039G>A (p.Glu2013=) c.487G>A c.7240G>A (n.7240G>A) c.247G>A n.346G>A n.518G>A c.7095G>A (p.Glu2365=) c.7071G>A (p.Glu2357=) c.7131G>A (p.Glu2377=)	ClinVar gnomAD v4
17	g.31343050G>C	CA399015590	NF1	c.7086G>C (p.Glu2362Asp) c.1668G>C (p.Glu556Asp) c.1260G>C (p.Glu420Asp) n.3749G>C c.43G>C c.7134G>C (p.Glu2378Asp) c.7104G>C (p.Glu2368Asp) c.7041G>C (p.Glu2347Asp) c.6039G>C (p.Glu2013Asp) c.487G>C c.7240G>C (n.7240G>C) c.247G>C n.346G>C n.518G>C c.7095G>C (p.Glu2365Asp) c.7071G>C (p.Glu2357Asp) c.7131G>C (p.Glu2377Asp)	dbSNP
17	g.31343050G>T	CA399015591	NF1	c.7086G>T (p.Glu2362Asp) c.1668G>T (p.Glu556Asp) c.1260G>T (p.Glu420Asp) n.3749G>T c.43G>T c.7134G>T (p.Glu2378Asp) c.7104G>T (p.Glu2368Asp) c.7041G>T (p.Glu2347Asp) c.6039G>T (p.Glu2013Asp) c.487G>T c.7240G>T (n.7240G>T) c.247G>T n.346G>T n.518G>T c.7095G>T (p.Glu2365Asp) c.7071G>T (p.Glu2357Asp) c.7131G>T (p.Glu2377Asp)
17	g.31343051T>A	CA399015592	NF1	c.7087T>A (p.Trp2363Arg) c.1669T>A (p.Trp557Arg) c.1261T>A (p.Trp421Arg) n.3750T>A c.44T>A c.7135T>A (p.Trp2379Arg) c.7105T>A (p.Trp2369Arg) c.7042T>A (p.Trp2348Arg) c.6040T>A (p.Trp2014Arg) c.488T>A c.7241T>A (n.7241T>A) c.248T>A n.347T>A n.519T>A c.7096T>A (p.Trp2366Arg) c.7072T>A (p.Trp2358Arg) c.7132T>A (p.Trp2378Arg)
17	g.31343051T>C	CA399015593	NF1	c.7087T>C (p.Trp2363Arg) c.1669T>C (p.Trp557Arg) c.1261T>C (p.Trp421Arg) n.3750T>C c.44T>C c.7135T>C (p.Trp2379Arg) c.7105T>C (p.Trp2369Arg) c.7042T>C (p.Trp2348Arg) c.6040T>C (p.Trp2014Arg) c.488T>C c.7241T>C (n.7241T>C) c.248T>C n.347T>C n.519T>C c.7096T>C (p.Trp2366Arg) c.7072T>C (p.Trp2358Arg) c.7132T>C (p.Trp2378Arg)
17	g.31343051T>G	CA399015594	NF1	c.7087T>G (p.Trp2363Gly) c.1669T>G (p.Trp557Gly) c.1261T>G (p.Trp421Gly) n.3750T>G c.44T>G c.7135T>G (p.Trp2379Gly) c.7105T>G (p.Trp2369Gly) c.7042T>G (p.Trp2348Gly) c.6040T>G (p.Trp2014Gly) c.488T>G c.7241T>G (n.7241T>G) c.248T>G n.347T>G n.519T>G c.7096T>G (p.Trp2366Gly) c.7072T>G (p.Trp2358Gly) c.7132T>G (p.Trp2378Gly)	dbSNP
17	g.31343052G>A	CA399015597	NF1	c.7088G>A (p.Trp2363Ter) c.1670G>A (p.Trp557Ter) c.1262G>A (p.Trp421Ter) n.3751G>A c.45G>A c.7136G>A (p.Trp2379Ter) c.7106G>A (p.Trp2369Ter) c.7043G>A (p.Trp2348Ter) c.6041G>A (p.Trp2014Ter) c.489G>A c.7242G>A (n.7242G>A) c.249G>A n.348G>A n.520G>A c.7097G>A (p.Trp2366Ter) c.7073G>A (p.Trp2358Ter) c.7133G>A (p.Trp2378Ter)	ClinVar dbSNP
17	g.31343052G>C	CA399015596	NF1	c.7088G>C (p.Trp2363Ser) c.1670G>C (p.Trp557Ser) c.1262G>C (p.Trp421Ser) n.3751G>C c.45G>C c.7136G>C (p.Trp2379Ser) c.7106G>C (p.Trp2369Ser) c.7043G>C (p.Trp2348Ser) c.6041G>C (p.Trp2014Ser) c.489G>C c.7242G>C (n.7242G>C) c.249G>C n.348G>C n.520G>C c.7097G>C (p.Trp2366Ser) c.7073G>C (p.Trp2358Ser) c.7133G>C (p.Trp2378Ser)	dbSNP
17	g.31343052G=	CA2255605079	NF1	c.7088G= (p.Trp2363=) c.1670G= (p.Trp557=) c.1262G= (p.Trp421=) n.3751G= c.45G= c.7136G= (p.Trp2379=) c.7106G= (p.Trp2369=) c.7043G= (p.Trp2348=) c.6041G= (p.Trp2014=) c.489G= c.7242G= (n.7242G=) c.249G= n.348G= n.520G= c.7097G= (p.Trp2366=) c.7073G= (p.Trp2358=) c.7133G= (p.Trp2378=)
17	g.31343052G>T	CA399015595	NF1	c.7088G>T (p.Trp2363Leu) c.1670G>T (p.Trp557Leu) c.1262G>T (p.Trp421Leu) n.3751G>T c.45G>T c.7136G>T (p.Trp2379Leu) c.7106G>T (p.Trp2369Leu) c.7043G>T (p.Trp2348Leu) c.6041G>T (p.Trp2014Leu) c.489G>T c.7242G>T (n.7242G>T) c.249G>T n.348G>T n.520G>T c.7097G>T (p.Trp2366Leu) c.7073G>T (p.Trp2358Leu) c.7133G>T (p.Trp2378Leu)
17	g.31343053G>A	CA16615319	NF1	c.7089G>A (p.Trp2363Ter) c.1671G>A (p.Trp557Ter) c.1263G>A (p.Trp421Ter) n.3752G>A c.46G>A c.7137G>A (p.Trp2379Ter) c.7107G>A (p.Trp2369Ter) c.7044G>A (p.Trp2348Ter) c.6042G>A (p.Trp2014Ter) c.490G>A c.7243G>A (n.7243G>A) c.250G>A n.349G>A n.521G>A c.7098G>A (p.Trp2366Ter) c.7074G>A (p.Trp2358Ter) c.7134G>A (p.Trp2378Ter)	ClinVar dbSNP
17	g.31343053G>C	CA399015599	NF1	c.7089G>C (p.Trp2363Cys) c.1671G>C (p.Trp557Cys) c.1263G>C (p.Trp421Cys) n.3752G>C c.46G>C c.7137G>C (p.Trp2379Cys) c.7107G>C (p.Trp2369Cys) c.7044G>C (p.Trp2348Cys) c.6042G>C (p.Trp2014Cys) c.490G>C c.7243G>C (n.7243G>C) c.250G>C n.349G>C n.521G>C c.7098G>C (p.Trp2366Cys) c.7074G>C (p.Trp2358Cys) c.7134G>C (p.Trp2378Cys)	dbSNP
17	g.31343053G=	CA2255605080	NF1	c.7089G= (p.Trp2363=) c.1671G= (p.Trp557=) c.1263G= (p.Trp421=) n.3752G= c.46G= c.7137G= (p.Trp2379=) c.7107G= (p.Trp2369=) c.7044G= (p.Trp2348=) c.6042G= (p.Trp2014=) c.490G= c.7243G= (n.7243G=) c.250G= n.349G= n.521G= c.7098G= (p.Trp2366=) c.7074G= (p.Trp2358=) c.7134G= (p.Trp2378=)
17	g.31343053G>T	CA399015598	NF1	c.7089G>T (p.Trp2363Cys) c.1671G>T (p.Trp557Cys) c.1263G>T (p.Trp421Cys) n.3752G>T c.46G>T c.7137G>T (p.Trp2379Cys) c.7107G>T (p.Trp2369Cys) c.7044G>T (p.Trp2348Cys) c.6042G>T (p.Trp2014Cys) c.490G>T c.7243G>T (n.7243G>T) c.250G>T n.349G>T n.521G>T c.7098G>T (p.Trp2366Cys) c.7074G>T (p.Trp2358Cys) c.7134G>T (p.Trp2378Cys)	dbSNP
17	g.31343054C>A	CA399015600	NF1	c.7090C>A (p.His2364Asn) c.1672C>A (p.His558Asn) c.1264C>A (p.His422Asn) n.3753C>A c.47C>A c.7138C>A (p.His2380Asn) c.7108C>A (p.His2370Asn) c.7045C>A (p.His2349Asn) c.6043C>A (p.His2015Asn) c.491C>A c.7244C>A (n.7244C>A) c.251C>A n.350C>A n.522C>A c.7099C>A (p.His2367Asn) c.7075C>A (p.His2359Asn) c.7135C>A (p.His2379Asn)
17	g.31343054C=	CA2255605081	NF1	c.7090C= (p.His2364=) c.1672C= (p.His558=) c.1264C= (p.His422=) n.3753C= c.47C= c.7138C= (p.His2380=) c.7108C= (p.His2370=) c.7045C= (p.His2349=) c.6043C= (p.His2015=) c.491C= c.7244C= (n.7244C=) c.251C= n.350C= n.522C= c.7099C= (p.His2367=) c.7075C= (p.His2359=) c.7135C= (p.His2379=)
17	g.31343054C>G	CA399015601	NF1	c.7090C>G (p.His2364Asp) c.1672C>G (p.His558Asp) c.1264C>G (p.His422Asp) n.3753C>G c.47C>G c.7138C>G (p.His2380Asp) c.7108C>G (p.His2370Asp) c.7045C>G (p.His2349Asp) c.6043C>G (p.His2015Asp) c.491C>G c.7244C>G (n.7244C>G) c.251C>G n.350C>G n.522C>G c.7099C>G (p.His2367Asp) c.7075C>G (p.His2359Asp) c.7135C>G (p.His2379Asp)	dbSNP
17	g.31343054C>T	CA164404	NF1	c.7090C>T (p.His2364Tyr) c.1672C>T (p.His558Tyr) c.1264C>T (p.His422Tyr) n.3753C>T c.47C>T c.7138C>T (p.His2380Tyr) c.7108C>T (p.His2370Tyr) c.7045C>T (p.His2349Tyr) c.6043C>T (p.His2015Tyr) c.491C>T c.7244C>T (n.7244C>T) c.251C>T n.350C>T n.522C>T c.7099C>T (p.His2367Tyr) c.7075C>T (p.His2359Tyr) c.7135C>T (p.His2379Tyr)	ClinVar dbSNP gnomAD v4
17	g.31343055A>C	CA399015602	NF1	c.7091A>C (p.His2364Pro) c.1673A>C (p.His558Pro) c.1265A>C (p.His422Pro) n.3754A>C c.48A>C c.7139A>C (p.His2380Pro) c.7109A>C (p.His2370Pro) c.7046A>C (p.His2349Pro) c.6044A>C (p.His2015Pro) c.492A>C c.7245A>C (n.7245A>C) c.252A>C n.351A>C n.523A>C c.7100A>C (p.His2367Pro) c.7076A>C (p.His2359Pro) c.7136A>C (p.His2379Pro)
17	g.31343055A>G	CA399015603	NF1	c.7091A>G (p.His2364Arg) c.1673A>G (p.His558Arg) c.1265A>G (p.His422Arg) n.3754A>G c.48A>G c.7139A>G (p.His2380Arg) c.7109A>G (p.His2370Arg) c.7046A>G (p.His2349Arg) c.6044A>G (p.His2015Arg) c.492A>G c.7245A>G (n.7245A>G) c.252A>G n.351A>G n.523A>G c.7100A>G (p.His2367Arg) c.7076A>G (p.His2359Arg) c.7136A>G (p.His2379Arg)
17	g.31343055A>T	CA399015604	NF1	c.7091A>T (p.His2364Leu) c.1673A>T (p.His558Leu) c.1265A>T (p.His422Leu) n.3754A>T c.48A>T c.7139A>T (p.His2380Leu) c.7109A>T (p.His2370Leu) c.7046A>T (p.His2349Leu) c.6044A>T (p.His2015Leu) c.492A>T c.7245A>T (n.7245A>T) c.252A>T n.351A>T n.523A>T c.7100A>T (p.His2367Leu) c.7076A>T (p.His2359Leu) c.7136A>T (p.His2379Leu)	dbSNP
17	g.31343055_31343056delinsAC	CA2255605083	NF1	c.7091_7092delinsAC (p.His2364=) c.1673_1674delinsAC (p.His558=) c.1265_1266delinsAC (p.His422=) n.3754_3755delinsAC c.48_49delinsAC c.7139_7140delinsAC (p.His2380=) c.7109_7110delinsAC (p.His2370=) c.7046_7047delinsAC (p.His2349=) c.6044_6045delinsAC (p.His2015=) c.492_493delinsAC c.7245_7246delinsAC (n.7245_7246delinsAC) c.252_253delinsAC n.351_352delinsAC n.523_524delinsAC c.7100_7101delinsAC (p.His2367=) c.7076_7077delinsAC (p.His2359=) c.7136_7137delinsAC (p.His2379=)
17	g.31343055_31343057delinsACT	CA2255605082	NF1	c.7091_7093delinsACT (p.His2364=) c.1673_1675delinsACT (p.His558=) c.1265_1267delinsACT (p.His422=) n.3754_3756delinsACT c.48_50delinsACT c.7139_7141delinsACT (p.His2380=) c.7109_7111delinsACT (p.His2370=) c.7046_7048delinsACT (p.His2349=) c.6044_6046delinsACT (p.His2015=) c.492_494delinsACT c.7245_7247delinsACT (n.7245_7247delinsACT) c.252_254delinsACT n.351_353delinsACT n.523_525delinsACT c.7100_7102delinsACT (p.His2367=) c.7076_7078delinsACT (p.His2359=) c.7136_7138delinsACT (p.His2379=)
17	g.31343056del	CA2255605084	NF1	c.7092del (p.Cys2365AlafsTer25) c.1674del (p.Cys559AlafsTer25) c.1266del (p.Cys423AlafsTer25) n.3755del c.49del c.7140del (p.Cys2381AlafsTer25) c.7110del (p.Cys2371AlafsTer25) c.7047del (p.Cys2350AlafsTer25) c.6045del (p.Cys2016AlafsTer25) c.493del c.7246del (n.7246del) c.253del n.352del n.524del c.7101del (p.Cys2368AlafsTer25) c.7077del (p.Cys2360AlafsTer25) c.7137del (p.Cys2380AlafsTer25)	ClinVar dbSNP
17	g.31343056C>A	CA399015605	NF1	c.7092C>A (p.His2364Gln) c.1674C>A (p.His558Gln) c.1266C>A (p.His422Gln) n.3755C>A c.49C>A c.7140C>A (p.His2380Gln) c.7110C>A (p.His2370Gln) c.7047C>A (p.His2349Gln) c.6045C>A (p.His2015Gln) c.493C>A c.7246C>A (n.7246C>A) c.253C>A n.352C>A n.524C>A c.7101C>A (p.His2367Gln) c.7077C>A (p.His2359Gln) c.7137C>A (p.His2379Gln)
17	g.31343056C=	CA2255605085	NF1	c.7092C= (p.His2364=) c.1674C= (p.His558=) c.1266C= (p.His422=) n.3755C= c.49C= c.7140C= (p.His2380=) c.7110C= (p.His2370=) c.7047C= (p.His2349=) c.6045C= (p.His2015=) c.493C= c.7246C= (n.7246C=) c.253C= n.352C= n.524C= c.7101C= (p.His2367=) c.7077C= (p.His2359=) c.7137C= (p.His2379=)
17	g.31343056C>G	CA399015606	NF1	c.7092C>G (p.His2364Gln) c.1674C>G (p.His558Gln) c.1266C>G (p.His422Gln) n.3755C>G c.49C>G c.7140C>G (p.His2380Gln) c.7110C>G (p.His2370Gln) c.7047C>G (p.His2349Gln) c.6045C>G (p.His2015Gln) c.493C>G c.7246C>G (n.7246C>G) c.253C>G n.352C>G n.524C>G c.7101C>G (p.His2367Gln) c.7077C>G (p.His2359Gln) c.7137C>G (p.His2379Gln)	ClinVar dbSNP
17	g.31343056C>T	CA8487498	NF1	c.7092C>T (p.His2364=) c.1674C>T (p.His558=) c.1266C>T (p.His422=) n.3755C>T c.49C>T c.7140C>T (p.His2380=) c.7110C>T (p.His2370=) c.7047C>T (p.His2349=) c.6045C>T (p.His2015=) c.493C>T c.7246C>T (n.7246C>T) c.253C>T n.352C>T n.524C>T c.7101C>T (p.His2367=) c.7077C>T (p.His2359=) c.7137C>T (p.His2379=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343056_31343057del	CA658658598	NF1	c.7092_7093del (p.His2364GlnfsTer15) c.1674_1675del (p.His558GlnfsTer15) c.1266_1267del (p.His422GlnfsTer15) n.3755_3756del c.49_50del c.7140_7141del (p.His2380GlnfsTer15) c.7110_7111del (p.His2370GlnfsTer15) c.7047_7048del (p.His2349GlnfsTer15) c.6045_6046del (p.His2015GlnfsTer15) c.493_494del c.7246_7247del (n.7246_7247del) c.253_254del n.352_353del n.524_525del c.7101_7102del (p.His2367GlnfsTer15) c.7077_7078del (p.His2359GlnfsTer15) c.7137_7138del (p.His2379GlnfsTer15)	ClinVar dbSNP
17	g.31343057T>A	CA399015607	NF1	c.7093T>A (p.Cys2365Ser) c.1675T>A (p.Cys559Ser) c.1267T>A (p.Cys423Ser) n.3756T>A c.50T>A c.7141T>A (p.Cys2381Ser) c.7111T>A (p.Cys2371Ser) c.7048T>A (p.Cys2350Ser) c.6046T>A (p.Cys2016Ser) c.494T>A c.7247T>A (n.7247T>A) c.254T>A n.353T>A n.525T>A c.7102T>A (p.Cys2368Ser) c.7078T>A (p.Cys2360Ser) c.7138T>A (p.Cys2380Ser)	dbSNP
17	g.31343057T>C	CA399015608	NF1	c.7093T>C (p.Cys2365Arg) c.1675T>C (p.Cys559Arg) c.1267T>C (p.Cys423Arg) n.3756T>C c.50T>C c.7141T>C (p.Cys2381Arg) c.7111T>C (p.Cys2371Arg) c.7048T>C (p.Cys2350Arg) c.6046T>C (p.Cys2016Arg) c.494T>C c.7247T>C (n.7247T>C) c.254T>C n.353T>C n.525T>C c.7102T>C (p.Cys2368Arg) c.7078T>C (p.Cys2360Arg) c.7138T>C (p.Cys2380Arg)
17	g.31343057T>G	CA399015609	NF1	c.7093T>G (p.Cys2365Gly) c.1675T>G (p.Cys559Gly) c.1267T>G (p.Cys423Gly) n.3756T>G c.50T>G c.7141T>G (p.Cys2381Gly) c.7111T>G (p.Cys2371Gly) c.7048T>G (p.Cys2350Gly) c.6046T>G (p.Cys2016Gly) c.494T>G c.7247T>G (n.7247T>G) c.254T>G n.353T>G n.525T>G c.7102T>G (p.Cys2368Gly) c.7078T>G (p.Cys2360Gly) c.7138T>G (p.Cys2380Gly)
17	g.31343058G>A	CA399015612	NF1	c.7094G>A (p.Cys2365Tyr) c.1676G>A (p.Cys559Tyr) c.1268G>A (p.Cys423Tyr) n.3757G>A c.51G>A c.7142G>A (p.Cys2381Tyr) c.7112G>A (p.Cys2371Tyr) c.7049G>A (p.Cys2350Tyr) c.6047G>A (p.Cys2016Tyr) c.495G>A c.7248G>A (n.7248G>A) c.255G>A n.354G>A n.526G>A c.7103G>A (p.Cys2368Tyr) c.7079G>A (p.Cys2360Tyr) c.7139G>A (p.Cys2380Tyr)	dbSNP
17	g.31343058G>C	CA399015610	NF1	c.7094G>C (p.Cys2365Ser) c.1676G>C (p.Cys559Ser) c.1268G>C (p.Cys423Ser) n.3757G>C c.51G>C c.7142G>C (p.Cys2381Ser) c.7112G>C (p.Cys2371Ser) c.7049G>C (p.Cys2350Ser) c.6047G>C (p.Cys2016Ser) c.495G>C c.7248G>C (n.7248G>C) c.255G>C n.354G>C n.526G>C c.7103G>C (p.Cys2368Ser) c.7079G>C (p.Cys2360Ser) c.7139G>C (p.Cys2380Ser)	dbSNP
17	g.31343058G>T	CA399015611	NF1	c.7094G>T (p.Cys2365Phe) c.1676G>T (p.Cys559Phe) c.1268G>T (p.Cys423Phe) n.3757G>T c.51G>T c.7142G>T (p.Cys2381Phe) c.7112G>T (p.Cys2371Phe) c.7049G>T (p.Cys2350Phe) c.6047G>T (p.Cys2016Phe) c.495G>T c.7248G>T (n.7248G>T) c.255G>T n.354G>T n.526G>T c.7103G>T (p.Cys2368Phe) c.7079G>T (p.Cys2360Phe) c.7139G>T (p.Cys2380Phe)
17	g.31343058_31343063del	CA2695225446	NF1	c.7094_7099del (p.Cys2365Ter) c.1676_1681del (p.Cys559Ter) c.1268_1273del (p.Cys423Ter) n.3757_3762del c.51_56del c.7142_7147del (p.Cys2381Ter) c.7112_7117del (p.Cys2371Ter) c.7049_7054del (p.Cys2350Ter) c.6047_6052del (p.Cys2016Ter) c.495_500del c.7248_7253del (n.7248_7253del) c.255_260del n.354_359del n.526_531del c.7103_7108del (p.Cys2368Ter) c.7079_7084del (p.Cys2360Ter) c.7139_7144del (p.Cys2380Ter)
17	g.31343058_31343073del	CA2695225447	NF1	c.7094_7109del (p.Cys2365PhefsTer20) c.1676_1691del (p.Cys559PhefsTer20) c.1268_1283del (p.Cys423PhefsTer20) n.3757_3772del c.51_66del c.7142_7157del (p.Cys2381PhefsTer20) c.7112_7127del (p.Cys2371PhefsTer20) c.7049_7064del (p.Cys2350PhefsTer20) c.6047_6062del (p.Cys2016PhefsTer20) c.495_510del c.7248_7263del (n.7248_7263del) c.255_270del n.354_369del n.526_541del c.7103_7118del (p.Cys2368PhefsTer20) c.7079_7094del (p.Cys2360PhefsTer20) c.7139_7154del (p.Cys2380PhefsTer20)
17	g.31343059C>A	CA399015613	NF1	c.7095C>A (p.Cys2365Ter) c.1677C>A (p.Cys559Ter) c.1269C>A (p.Cys423Ter) n.3758C>A c.52C>A c.7143C>A (p.Cys2381Ter) c.7113C>A (p.Cys2371Ter) c.7050C>A (p.Cys2350Ter) c.6048C>A (p.Cys2016Ter) c.496C>A c.7249C>A (n.7249C>A) c.256C>A n.355C>A n.527C>A c.7104C>A (p.Cys2368Ter) c.7080C>A (p.Cys2360Ter) c.7140C>A (p.Cys2380Ter)	ClinVar dbSNP gnomAD v4
17	g.31343059C=	CA2255605086	NF1	c.7095C= (p.Cys2365=) c.1677C= (p.Cys559=) c.1269C= (p.Cys423=) n.3758C= c.52C= c.7143C= (p.Cys2381=) c.7113C= (p.Cys2371=) c.7050C= (p.Cys2350=) c.6048C= (p.Cys2016=) c.496C= c.7249C= (n.7249C=) c.256C= n.355C= n.527C= c.7104C= (p.Cys2368=) c.7080C= (p.Cys2360=) c.7140C= (p.Cys2380=)
17	g.31343059C>G	CA399015614	NF1	c.7095C>G (p.Cys2365Trp) c.1677C>G (p.Cys559Trp) c.1269C>G (p.Cys423Trp) n.3758C>G c.52C>G c.7143C>G (p.Cys2381Trp) c.7113C>G (p.Cys2371Trp) c.7050C>G (p.Cys2350Trp) c.6048C>G (p.Cys2016Trp) c.496C>G c.7249C>G (n.7249C>G) c.256C>G n.355C>G n.527C>G c.7104C>G (p.Cys2368Trp) c.7080C>G (p.Cys2360Trp) c.7140C>G (p.Cys2380Trp)	dbSNP
17	g.31343059C>T	CA499236827	NF1	c.7095C>T (p.Cys2365=) c.1677C>T (p.Cys559=) c.1269C>T (p.Cys423=) n.3758C>T c.52C>T c.7143C>T (p.Cys2381=) c.7113C>T (p.Cys2371=) c.7050C>T (p.Cys2350=) c.6048C>T (p.Cys2016=) c.496C>T c.7249C>T (n.7249C>T) c.256C>T n.355C>T n.527C>T c.7104C>T (p.Cys2368=) c.7080C>T (p.Cys2360=) c.7140C>T (p.Cys2380=)	ClinVar dbSNP
17	g.31343059_31343079delinsCAAGCAAATGGATCATTTTGT	CA2255605087	NF1	c.7095_7115delinsCAAGCAAATGGATCATTTTGT (p.Cys2365=) c.1677_1697delinsCAAGCAAATGGATCATTTTGT (p.Cys559=) c.1269_1289delinsCAAGCAAATGGATCATTTTGT (p.Cys423=) n.3758_3778delinsCAAGCAAATGGATCATTTTGT c.52_72delinsCAAGCAAATGGATCATTTTGT c.7143_7163delinsCAAGCAAATGGATCATTTTGT (p.Cys2381=) c.7113_7133delinsCAAGCAAATGGATCATTTTGT (p.Cys2371=) c.7050_7070delinsCAAGCAAATGGATCATTTTGT (p.Cys2350=) c.6048_6068delinsCAAGCAAATGGATCATTTTGT (p.Cys2016=) c.496_516delinsCAAGCAAATGGATCATTTTGT c.7249_7269delinsCAAGCAAATGGATCATTTTGT (n.7249_7269delinsCAAGCAAATGGATCATTTTGT) c.256_276delinsCAAGCAAATGGATCATTTTGT n.355_375delinsCAAGCAAATGGATCATTTTGT n.527_547delinsCAAGCAAATGGATCATTTTGT c.7104_7124delinsCAAGCAAATGGATCATTTTGT (p.Cys2368=) c.7080_7100delinsCAAGCAAATGGATCATTTTGT (p.Cys2360=) c.7140_7160delinsCAAGCAAATGGATCATTTTGT (p.Cys2380=)
17	g.31343060A=	CA2255605088	NF1	c.7096A= (p.Lys2366=) c.1678A= (p.Lys560=) c.1270A= (p.Lys424=) n.3759A= c.53A= c.7144A= (p.Lys2382=) c.7114A= (p.Lys2372=) c.7051A= (p.Lys2351=) c.6049A= (p.Lys2017=) c.497A= c.7250A= (n.7250A=) c.257A= n.356A= n.528A= c.7105A= (p.Lys2369=) c.7081A= (p.Lys2361=) c.7141A= (p.Lys2381=)
17	g.31343060A>C	CA399015615	NF1	c.7096A>C (p.Lys2366Gln) c.1678A>C (p.Lys560Gln) c.1270A>C (p.Lys424Gln) n.3759A>C c.53A>C c.7144A>C (p.Lys2382Gln) c.7114A>C (p.Lys2372Gln) c.7051A>C (p.Lys2351Gln) c.6049A>C (p.Lys2017Gln) c.497A>C c.7250A>C (n.7250A>C) c.257A>C n.356A>C n.528A>C c.7105A>C (p.Lys2369Gln) c.7081A>C (p.Lys2361Gln) c.7141A>C (p.Lys2381Gln)
17	g.31343060A>G	CA8487499	NF1	c.7096A>G (p.Lys2366Glu) c.1678A>G (p.Lys560Glu) c.1270A>G (p.Lys424Glu) n.3759A>G c.53A>G c.7144A>G (p.Lys2382Glu) c.7114A>G (p.Lys2372Glu) c.7051A>G (p.Lys2351Glu) c.6049A>G (p.Lys2017Glu) c.497A>G c.7250A>G (n.7250A>G) c.257A>G n.356A>G n.528A>G c.7105A>G (p.Lys2369Glu) c.7081A>G (p.Lys2361Glu) c.7141A>G (p.Lys2381Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.31343060A>T	CA399015616	NF1	c.7096A>T (p.Lys2366Ter) c.1678A>T (p.Lys560Ter) c.1270A>T (p.Lys424Ter) n.3759A>T c.53A>T c.7144A>T (p.Lys2382Ter) c.7114A>T (p.Lys2372Ter) c.7051A>T (p.Lys2351Ter) c.6049A>T (p.Lys2017Ter) c.497A>T c.7250A>T (n.7250A>T) c.257A>T n.356A>T n.528A>T c.7105A>T (p.Lys2369Ter) c.7081A>T (p.Lys2361Ter) c.7141A>T (p.Lys2381Ter)	ClinVar dbSNP
17	g.31343061del	CA2573054399	NF1	c.7097del (p.Lys2366SerfsTer24) c.1679del (p.Lys560SerfsTer24) c.1271del (p.Lys424SerfsTer24) n.3760del c.54del c.7145del (p.Lys2382SerfsTer24) c.7115del (p.Lys2372SerfsTer24) c.7052del (p.Lys2351SerfsTer24) c.6050del (p.Lys2017SerfsTer24) c.498del c.7251del (n.7251del) c.258del n.357del n.529del c.7106del (p.Lys2369SerfsTer24) c.7082del (p.Lys2361SerfsTer24) c.7142del (p.Lys2381SerfsTer24)	ClinVar dbSNP
17	g.31343060_31343079del	CA916080693	NF1	c.7096_7115del (p.Lys2366TrpfsTer7) c.1678_1697del (p.Lys560TrpfsTer7) c.1270_1289del (p.Lys424TrpfsTer7) n.3759_3778del c.53_72del c.7144_7163del (p.Lys2382TrpfsTer7) c.7114_7133del (p.Lys2372TrpfsTer7) c.7051_7070del (p.Lys2351TrpfsTer7) c.6049_6068del (p.Lys2017TrpfsTer7) c.497_516del c.7250_7269del (n.7250_7269del) c.257_276del n.356_375del n.528_547del c.7105_7124del (p.Lys2369TrpfsTer7) c.7081_7100del (p.Lys2361TrpfsTer7) c.7141_7160del (p.Lys2381TrpfsTer7)	ClinVar dbSNP
17	g.31343061A>C	CA399015617	NF1	c.7097A>C (p.Lys2366Thr) c.1679A>C (p.Lys560Thr) c.1271A>C (p.Lys424Thr) n.3760A>C c.54A>C c.7145A>C (p.Lys2382Thr) c.7115A>C (p.Lys2372Thr) c.7052A>C (p.Lys2351Thr) c.6050A>C (p.Lys2017Thr) c.498A>C c.7251A>C (n.7251A>C) c.258A>C n.357A>C n.529A>C c.7106A>C (p.Lys2369Thr) c.7082A>C (p.Lys2361Thr) c.7142A>C (p.Lys2381Thr)
17	g.31343061A>G	CA399015618	NF1	c.7097A>G (p.Lys2366Arg) c.1679A>G (p.Lys560Arg) c.1271A>G (p.Lys424Arg) n.3760A>G c.54A>G c.7145A>G (p.Lys2382Arg) c.7115A>G (p.Lys2372Arg) c.7052A>G (p.Lys2351Arg) c.6050A>G (p.Lys2017Arg) c.498A>G c.7251A>G (n.7251A>G) c.258A>G n.357A>G n.529A>G c.7106A>G (p.Lys2369Arg) c.7082A>G (p.Lys2361Arg) c.7142A>G (p.Lys2381Arg)	COSMIC COSMIC COSMIC
17	g.31343061A>T	CA399015619	NF1	c.7097A>T (p.Lys2366Met) c.1679A>T (p.Lys560Met) c.1271A>T (p.Lys424Met) n.3760A>T c.54A>T c.7145A>T (p.Lys2382Met) c.7115A>T (p.Lys2372Met) c.7052A>T (p.Lys2351Met) c.6050A>T (p.Lys2017Met) c.498A>T c.7251A>T (n.7251A>T) c.258A>T n.357A>T n.529A>T c.7106A>T (p.Lys2369Met) c.7082A>T (p.Lys2361Met) c.7142A>T (p.Lys2381Met)	dbSNP
17	g.31343062G>A	CA499236828	NF1	c.7098G>A (p.Lys2366=) c.1680G>A (p.Lys560=) c.1272G>A (p.Lys424=) n.3761G>A c.55G>A c.7146G>A (p.Lys2382=) c.7116G>A (p.Lys2372=) c.7053G>A (p.Lys2351=) c.6051G>A (p.Lys2017=) c.499G>A c.7252G>A (n.7252G>A) c.259G>A n.358G>A n.530G>A c.7107G>A (p.Lys2369=) c.7083G>A (p.Lys2361=) c.7143G>A (p.Lys2381=)	ClinVar dbSNP
17	g.31343062G>C	CA399015620	NF1	c.7098G>C (p.Lys2366Asn) c.1680G>C (p.Lys560Asn) c.1272G>C (p.Lys424Asn) n.3761G>C c.55G>C c.7146G>C (p.Lys2382Asn) c.7116G>C (p.Lys2372Asn) c.7053G>C (p.Lys2351Asn) c.6051G>C (p.Lys2017Asn) c.499G>C c.7252G>C (n.7252G>C) c.259G>C n.358G>C n.530G>C c.7107G>C (p.Lys2369Asn) c.7083G>C (p.Lys2361Asn) c.7143G>C (p.Lys2381Asn)	dbSNP
17	g.31343062G>T	CA399015621	NF1	c.7098G>T (p.Lys2366Asn) c.1680G>T (p.Lys560Asn) c.1272G>T (p.Lys424Asn) n.3761G>T c.55G>T c.7146G>T (p.Lys2382Asn) c.7116G>T (p.Lys2372Asn) c.7053G>T (p.Lys2351Asn) c.6051G>T (p.Lys2017Asn) c.499G>T c.7252G>T (n.7252G>T) c.259G>T n.358G>T n.530G>T c.7107G>T (p.Lys2369Asn) c.7083G>T (p.Lys2361Asn) c.7143G>T (p.Lys2381Asn)	COSMIC COSMIC
17	g.31343063C>A	CA399015624	NF1	c.7099C>A (p.Gln2367Lys) c.1681C>A (p.Gln561Lys) c.1273C>A (p.Gln425Lys) n.3762C>A c.56C>A c.7147C>A (p.Gln2383Lys) c.7117C>A (p.Gln2373Lys) c.7054C>A (p.Gln2352Lys) c.6052C>A (p.Gln2018Lys) c.500C>A c.7253C>A (n.7253C>A) c.260C>A n.359C>A n.531C>A c.7108C>A (p.Gln2370Lys) c.7084C>A (p.Gln2362Lys) c.7144C>A (p.Gln2382Lys)
17	g.31343063C=	CA2255605089	NF1	c.7099C= (p.Gln2367=) c.1681C= (p.Gln561=) c.1273C= (p.Gln425=) n.3762C= c.56C= c.7147C= (p.Gln2383=) c.7117C= (p.Gln2373=) c.7054C= (p.Gln2352=) c.6052C= (p.Gln2018=) c.500C= c.7253C= (n.7253C=) c.260C= n.359C= n.531C= c.7108C= (p.Gln2370=) c.7084C= (p.Gln2362=) c.7144C= (p.Gln2382=)
17	g.31343063C>G	CA399015623	NF1	c.7099C>G (p.Gln2367Glu) c.1681C>G (p.Gln561Glu) c.1273C>G (p.Gln425Glu) n.3762C>G c.56C>G c.7147C>G (p.Gln2383Glu) c.7117C>G (p.Gln2373Glu) c.7054C>G (p.Gln2352Glu) c.6052C>G (p.Gln2018Glu) c.500C>G c.7253C>G (n.7253C>G) c.260C>G n.359C>G n.531C>G c.7108C>G (p.Gln2370Glu) c.7084C>G (p.Gln2362Glu) c.7144C>G (p.Gln2382Glu)	dbSNP
17	g.31343063C>T	CA399015622	NF1	c.7099C>T (p.Gln2367Ter) c.1681C>T (p.Gln561Ter) c.1273C>T (p.Gln425Ter) n.3762C>T c.56C>T c.7147C>T (p.Gln2383Ter) c.7117C>T (p.Gln2373Ter) c.7054C>T (p.Gln2352Ter) c.6052C>T (p.Gln2018Ter) c.500C>T c.7253C>T (n.7253C>T) c.260C>T n.359C>T n.531C>T c.7108C>T (p.Gln2370Ter) c.7084C>T (p.Gln2362Ter) c.7144C>T (p.Gln2382Ter)	ClinVar dbSNP COSMIC
17	g.31343064A>C	CA399015625	NF1	c.7100A>C (p.Gln2367Pro) c.1682A>C (p.Gln561Pro) c.1274A>C (p.Gln425Pro) n.3763A>C c.57A>C c.7148A>C (p.Gln2383Pro) c.7118A>C (p.Gln2373Pro) c.7055A>C (p.Gln2352Pro) c.6053A>C (p.Gln2018Pro) c.501A>C c.7254A>C (n.7254A>C) c.261A>C n.360A>C n.532A>C c.7109A>C (p.Gln2370Pro) c.7085A>C (p.Gln2362Pro) c.7145A>C (p.Gln2382Pro)
17	g.31343064A>G	CA399015626	NF1	c.7100A>G (p.Gln2367Arg) c.1682A>G (p.Gln561Arg) c.1274A>G (p.Gln425Arg) n.3763A>G c.57A>G c.7148A>G (p.Gln2383Arg) c.7118A>G (p.Gln2373Arg) c.7055A>G (p.Gln2352Arg) c.6053A>G (p.Gln2018Arg) c.501A>G c.7254A>G (n.7254A>G) c.261A>G n.360A>G n.532A>G c.7109A>G (p.Gln2370Arg) c.7085A>G (p.Gln2362Arg) c.7145A>G (p.Gln2382Arg)
17	g.31343064A>T	CA399015627	NF1	c.7100A>T (p.Gln2367Leu) c.1682A>T (p.Gln561Leu) c.1274A>T (p.Gln425Leu) n.3763A>T c.57A>T c.7148A>T (p.Gln2383Leu) c.7118A>T (p.Gln2373Leu) c.7055A>T (p.Gln2352Leu) c.6053A>T (p.Gln2018Leu) c.501A>T c.7254A>T (n.7254A>T) c.261A>T n.360A>T n.532A>T c.7109A>T (p.Gln2370Leu) c.7085A>T (p.Gln2362Leu) c.7145A>T (p.Gln2382Leu)
17	g.31343066dup	CA916080694	NF1	c.7102dup (p.Met2368AsnfsTer12) c.1684dup (p.Met562AsnfsTer12) c.1276dup (p.Met426AsnfsTer12) n.3765dup c.59dup c.7150dup (p.Met2384AsnfsTer12) c.7120dup (p.Met2374AsnfsTer12) c.7057dup (p.Met2353AsnfsTer12) c.6055dup (p.Met2019AsnfsTer12) c.503dup c.7256dup (n.7256dup) c.263dup n.362dup n.534dup c.7111dup (p.Met2371AsnfsTer12) c.7087dup (p.Met2363AsnfsTer12) c.7147dup (p.Met2383AsnfsTer12)	ClinVar dbSNP
17	g.31343065A>C	CA399015628	NF1	c.7101A>C (p.Gln2367His) c.1683A>C (p.Gln561His) c.1275A>C (p.Gln425His) n.3764A>C c.58A>C c.7149A>C (p.Gln2383His) c.7119A>C (p.Gln2373His) c.7056A>C (p.Gln2352His) c.6054A>C (p.Gln2018His) c.502A>C c.7255A>C (n.7255A>C) c.262A>C n.361A>C n.533A>C c.7110A>C (p.Gln2370His) c.7086A>C (p.Gln2362His) c.7146A>C (p.Gln2382His)
17	g.31343065A>G	CA499236829	NF1	c.7101A>G (p.Gln2367=) c.1683A>G (p.Gln561=) c.1275A>G (p.Gln425=) n.3764A>G c.58A>G c.7149A>G (p.Gln2383=) c.7119A>G (p.Gln2373=) c.7056A>G (p.Gln2352=) c.6054A>G (p.Gln2018=) c.502A>G c.7255A>G (n.7255A>G) c.262A>G n.361A>G n.533A>G c.7110A>G (p.Gln2370=) c.7086A>G (p.Gln2362=) c.7146A>G (p.Gln2382=)
17	g.31343065A>T	CA399015629	NF1	c.7101A>T (p.Gln2367His) c.1683A>T (p.Gln561His) c.1275A>T (p.Gln425His) n.3764A>T c.58A>T c.7149A>T (p.Gln2383His) c.7119A>T (p.Gln2373His) c.7056A>T (p.Gln2352His) c.6054A>T (p.Gln2018His) c.502A>T c.7255A>T (n.7255A>T) c.262A>T n.361A>T n.533A>T c.7110A>T (p.Gln2370His) c.7086A>T (p.Gln2362His) c.7146A>T (p.Gln2382His)	dbSNP
17	g.31343066A=	CA2255605090	NF1	c.7102A= (p.Met2368=) c.1684A= (p.Met562=) c.1276A= (p.Met426=) n.3765A= c.59A= c.7150A= (p.Met2384=) c.7120A= (p.Met2374=) c.7057A= (p.Met2353=) c.6055A= (p.Met2019=) c.503A= c.7256A= (n.7256A=) c.263A= n.362A= n.534A= c.7111A= (p.Met2371=) c.7087A= (p.Met2363=) c.7147A= (p.Met2383=)
17	g.31343066A>C	CA399015632	NF1	c.7102A>C (p.Met2368Leu) c.1684A>C (p.Met562Leu) c.1276A>C (p.Met426Leu) n.3765A>C c.59A>C c.7150A>C (p.Met2384Leu) c.7120A>C (p.Met2374Leu) c.7057A>C (p.Met2353Leu) c.6055A>C (p.Met2019Leu) c.503A>C c.7256A>C (n.7256A>C) c.263A>C n.362A>C n.534A>C c.7111A>C (p.Met2371Leu) c.7087A>C (p.Met2363Leu) c.7147A>C (p.Met2383Leu)
17	g.31343066A>G	CA399015631	NF1	c.7102A>G (p.Met2368Val) c.1684A>G (p.Met562Val) c.1276A>G (p.Met426Val) n.3765A>G c.59A>G c.7150A>G (p.Met2384Val) c.7120A>G (p.Met2374Val) c.7057A>G (p.Met2353Val) c.6055A>G (p.Met2019Val) c.503A>G c.7256A>G (n.7256A>G) c.263A>G n.362A>G n.534A>G c.7111A>G (p.Met2371Val) c.7087A>G (p.Met2363Val) c.7147A>G (p.Met2383Val)	ClinVar dbSNP
17	g.31343066A>T	CA399015630	NF1	c.7102A>T (p.Met2368Leu) c.1684A>T (p.Met562Leu) c.1276A>T (p.Met426Leu) n.3765A>T c.59A>T c.7150A>T (p.Met2384Leu) c.7120A>T (p.Met2374Leu) c.7057A>T (p.Met2353Leu) c.6055A>T (p.Met2019Leu) c.503A>T c.7256A>T (n.7256A>T) c.263A>T n.362A>T n.534A>T c.7111A>T (p.Met2371Leu) c.7087A>T (p.Met2363Leu) c.7147A>T (p.Met2383Leu)	ClinVar dbSNP
17	g.31343067del	CA2739265559	NF1	c.7103del (p.Met2368ArgfsTer22) c.1685del (p.Met562ArgfsTer22) c.1277del (p.Met426ArgfsTer22) n.3766del c.60del c.7151del (p.Met2384ArgfsTer22) c.7121del (p.Met2374ArgfsTer22) c.7058del (p.Met2353ArgfsTer22) c.6056del (p.Met2019ArgfsTer22) c.504del c.7257del (n.7257del) c.264del n.363del n.535del c.7112del (p.Met2371ArgfsTer22) c.7088del (p.Met2363ArgfsTer22) c.7148del (p.Met2383ArgfsTer22)	ClinVar
17	g.31343067T>A	CA399015633	NF1	c.7103T>A (p.Met2368Lys) c.1685T>A (p.Met562Lys) c.1277T>A (p.Met426Lys) n.3766T>A c.60T>A c.7151T>A (p.Met2384Lys) c.7121T>A (p.Met2374Lys) c.7058T>A (p.Met2353Lys) c.6056T>A (p.Met2019Lys) c.504T>A c.7257T>A (n.7257T>A) c.264T>A n.363T>A n.535T>A c.7112T>A (p.Met2371Lys) c.7088T>A (p.Met2363Lys) c.7148T>A (p.Met2383Lys)
17	g.31343067T>C	CA399015634	NF1	c.7103T>C (p.Met2368Thr) c.1685T>C (p.Met562Thr) c.1277T>C (p.Met426Thr) n.3766T>C c.60T>C c.7151T>C (p.Met2384Thr) c.7121T>C (p.Met2374Thr) c.7058T>C (p.Met2353Thr) c.6056T>C (p.Met2019Thr) c.504T>C c.7257T>C (n.7257T>C) c.264T>C n.363T>C n.535T>C c.7112T>C (p.Met2371Thr) c.7088T>C (p.Met2363Thr) c.7148T>C (p.Met2383Thr)	gnomAD v4
17	g.31343067T>G	CA399015635	NF1	c.7103T>G (p.Met2368Arg) c.1685T>G (p.Met562Arg) c.1277T>G (p.Met426Arg) n.3766T>G c.60T>G c.7151T>G (p.Met2384Arg) c.7121T>G (p.Met2374Arg) c.7058T>G (p.Met2353Arg) c.6056T>G (p.Met2019Arg) c.504T>G c.7257T>G (n.7257T>G) c.264T>G n.363T>G n.535T>G c.7112T>G (p.Met2371Arg) c.7088T>G (p.Met2363Arg) c.7148T>G (p.Met2383Arg)	ClinVar
17	g.31343068G>A	CA399015636	NF1	c.7104G>A (p.Met2368Ile) c.1686G>A (p.Met562Ile) c.1278G>A (p.Met426Ile) n.3767G>A c.61G>A c.7152G>A (p.Met2384Ile) c.7122G>A (p.Met2374Ile) c.7059G>A (p.Met2353Ile) c.6057G>A (p.Met2019Ile) c.505G>A c.7258G>A (n.7258G>A) c.265G>A n.364G>A n.536G>A c.7113G>A (p.Met2371Ile) c.7089G>A (p.Met2363Ile) c.7149G>A (p.Met2383Ile)	ClinVar dbSNP
17	g.31343068G>C	CA399015637	NF1	c.7104G>C (p.Met2368Ile) c.1686G>C (p.Met562Ile) c.1278G>C (p.Met426Ile) n.3767G>C c.61G>C c.7152G>C (p.Met2384Ile) c.7122G>C (p.Met2374Ile) c.7059G>C (p.Met2353Ile) c.6057G>C (p.Met2019Ile) c.505G>C c.7258G>C (n.7258G>C) c.265G>C n.364G>C n.536G>C c.7113G>C (p.Met2371Ile) c.7089G>C (p.Met2363Ile) c.7149G>C (p.Met2383Ile)	dbSNP
17	g.31343068G>T	CA399015638	NF1	c.7104G>T (p.Met2368Ile) c.1686G>T (p.Met562Ile) c.1278G>T (p.Met426Ile) n.3767G>T c.61G>T c.7152G>T (p.Met2384Ile) c.7122G>T (p.Met2374Ile) c.7059G>T (p.Met2353Ile) c.6057G>T (p.Met2019Ile) c.505G>T c.7258G>T (n.7258G>T) c.265G>T n.364G>T n.536G>T c.7113G>T (p.Met2371Ile) c.7089G>T (p.Met2363Ile) c.7149G>T (p.Met2383Ile)
17	g.31343069G>A	CA399015639	NF1	c.7105G>A (p.Asp2369Asn) c.1687G>A (p.Asp563Asn) c.1279G>A (p.Asp427Asn) n.3768G>A c.62G>A c.7153G>A (p.Asp2385Asn) c.7123G>A (p.Asp2375Asn) c.7060G>A (p.Asp2354Asn) c.6058G>A (p.Asp2020Asn) c.506G>A c.7259G>A (n.7259G>A) c.266G>A n.365G>A n.537G>A c.7114G>A (p.Asp2372Asn) c.7090G>A (p.Asp2364Asn) c.7150G>A (p.Asp2384Asn)	dbSNP
17	g.31343069G>C	CA399015641	NF1	c.7105G>C (p.Asp2369His) c.1687G>C (p.Asp563His) c.1279G>C (p.Asp427His) n.3768G>C c.62G>C c.7153G>C (p.Asp2385His) c.7123G>C (p.Asp2375His) c.7060G>C (p.Asp2354His) c.6058G>C (p.Asp2020His) c.506G>C c.7259G>C (n.7259G>C) c.266G>C n.365G>C n.537G>C c.7114G>C (p.Asp2372His) c.7090G>C (p.Asp2364His) c.7150G>C (p.Asp2384His)	dbSNP COSMIC COSMIC COSMIC
17	g.31343069G>T	CA399015640	NF1	c.7105G>T (p.Asp2369Tyr) c.1687G>T (p.Asp563Tyr) c.1279G>T (p.Asp427Tyr) n.3768G>T c.62G>T c.7153G>T (p.Asp2385Tyr) c.7123G>T (p.Asp2375Tyr) c.7060G>T (p.Asp2354Tyr) c.6058G>T (p.Asp2020Tyr) c.506G>T c.7259G>T (n.7259G>T) c.266G>T n.365G>T n.537G>T c.7114G>T (p.Asp2372Tyr) c.7090G>T (p.Asp2364Tyr) c.7150G>T (p.Asp2384Tyr)	dbSNP
17	g.31343070A=	CA2255605091	NF1	c.7106A= (p.Asp2369=) c.1688A= (p.Asp563=) c.1280A= (p.Asp427=) n.3769A= c.63A= c.7154A= (p.Asp2385=) c.7124A= (p.Asp2375=) c.7061A= (p.Asp2354=) c.6059A= (p.Asp2020=) c.507A= c.7260A= (n.7260A=) c.267A= n.366A= n.538A= c.7115A= (p.Asp2372=) c.7091A= (p.Asp2364=) c.7151A= (p.Asp2384=)
17	g.31343070A>C	CA399015642	NF1	c.7106A>C (p.Asp2369Ala) c.1688A>C (p.Asp563Ala) c.1280A>C (p.Asp427Ala) n.3769A>C c.63A>C c.7154A>C (p.Asp2385Ala) c.7124A>C (p.Asp2375Ala) c.7061A>C (p.Asp2354Ala) c.6059A>C (p.Asp2020Ala) c.507A>C c.7260A>C (n.7260A>C) c.267A>C n.366A>C n.538A>C c.7115A>C (p.Asp2372Ala) c.7091A>C (p.Asp2364Ala) c.7151A>C (p.Asp2384Ala)
17	g.31343070A>G	CA8487500	NF1	c.7106A>G (p.Asp2369Gly) c.1688A>G (p.Asp563Gly) c.1280A>G (p.Asp427Gly) n.3769A>G c.63A>G c.7154A>G (p.Asp2385Gly) c.7124A>G (p.Asp2375Gly) c.7061A>G (p.Asp2354Gly) c.6059A>G (p.Asp2020Gly) c.507A>G c.7260A>G (n.7260A>G) c.267A>G n.366A>G n.538A>G c.7115A>G (p.Asp2372Gly) c.7091A>G (p.Asp2364Gly) c.7151A>G (p.Asp2384Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.31343070A>T	CA399015643	NF1	c.7106A>T (p.Asp2369Val) c.1688A>T (p.Asp563Val) c.1280A>T (p.Asp427Val) n.3769A>T c.63A>T c.7154A>T (p.Asp2385Val) c.7124A>T (p.Asp2375Val) c.7061A>T (p.Asp2354Val) c.6059A>T (p.Asp2020Val) c.507A>T c.7260A>T (n.7260A>T) c.267A>T n.366A>T n.538A>T c.7115A>T (p.Asp2372Val) c.7091A>T (p.Asp2364Val) c.7151A>T (p.Asp2384Val)	dbSNP
17	g.31343071T>A	CA399015644	NF1	c.7107T>A (p.Asp2369Glu) c.1689T>A (p.Asp563Glu) c.1281T>A (p.Asp427Glu) n.3770T>A c.64T>A c.7155T>A (p.Asp2385Glu) c.7125T>A (p.Asp2375Glu) c.7062T>A (p.Asp2354Glu) c.6060T>A (p.Asp2020Glu) c.508T>A c.7261T>A (n.7261T>A) c.268T>A n.367T>A n.539T>A c.7116T>A (p.Asp2372Glu) c.7092T>A (p.Asp2364Glu) c.7152T>A (p.Asp2384Glu)	ClinVar dbSNP
17	g.31343071T>C	CA499236830	NF1	c.7107T>C (p.Asp2369=) c.1689T>C (p.Asp563=) c.1281T>C (p.Asp427=) n.3770T>C c.64T>C c.7155T>C (p.Asp2385=) c.7125T>C (p.Asp2375=) c.7062T>C (p.Asp2354=) c.6060T>C (p.Asp2020=) c.508T>C c.7261T>C (n.7261T>C) c.268T>C n.367T>C n.539T>C c.7116T>C (p.Asp2372=) c.7092T>C (p.Asp2364=) c.7152T>C (p.Asp2384=)	ClinVar dbSNP
17	g.31343071T>G	CA399015645	NF1	c.7107T>G (p.Asp2369Glu) c.1689T>G (p.Asp563Glu) c.1281T>G (p.Asp427Glu) n.3770T>G c.64T>G c.7155T>G (p.Asp2385Glu) c.7125T>G (p.Asp2375Glu) c.7062T>G (p.Asp2354Glu) c.6060T>G (p.Asp2020Glu) c.508T>G c.7261T>G (n.7261T>G) c.268T>G n.367T>G n.539T>G c.7116T>G (p.Asp2372Glu) c.7092T>G (p.Asp2364Glu) c.7152T>G (p.Asp2384Glu)	dbSNP
17	g.31343071T=	CA2255605092	NF1	c.7107T= (p.Asp2369=) c.1689T= (p.Asp563=) c.1281T= (p.Asp427=) n.3770T= c.64T= c.7155T= (p.Asp2385=) c.7125T= (p.Asp2375=) c.7062T= (p.Asp2354=) c.6060T= (p.Asp2020=) c.508T= c.7261T= (n.7261T=) c.268T= n.367T= n.539T= c.7116T= (p.Asp2372=) c.7092T= (p.Asp2364=) c.7152T= (p.Asp2384=)
17	g.31343072C>A	CA399015646	NF1	c.7108C>A (p.His2370Asn) c.1690C>A (p.His564Asn) c.1282C>A (p.His428Asn) n.3771C>A c.65C>A c.7156C>A (p.His2386Asn) c.7126C>A (p.His2376Asn) c.7063C>A (p.His2355Asn) c.6061C>A (p.His2021Asn) c.509C>A c.7262C>A (n.7262C>A) c.269C>A n.368C>A n.540C>A c.7117C>A (p.His2373Asn) c.7093C>A (p.His2365Asn) c.7153C>A (p.His2385Asn)	dbSNP
17	g.31343072C>G	CA399015647	NF1	c.7108C>G (p.His2370Asp) c.1690C>G (p.His564Asp) c.1282C>G (p.His428Asp) n.3771C>G c.65C>G c.7156C>G (p.His2386Asp) c.7126C>G (p.His2376Asp) c.7063C>G (p.His2355Asp) c.6061C>G (p.His2021Asp) c.509C>G c.7262C>G (n.7262C>G) c.269C>G n.368C>G n.540C>G c.7117C>G (p.His2373Asp) c.7093C>G (p.His2365Asp) c.7153C>G (p.His2385Asp)	dbSNP
17	g.31343072C>T	CA399015648	NF1	c.7108C>T (p.His2370Tyr) c.1690C>T (p.His564Tyr) c.1282C>T (p.His428Tyr) n.3771C>T c.65C>T c.7156C>T (p.His2386Tyr) c.7126C>T (p.His2376Tyr) c.7063C>T (p.His2355Tyr) c.6061C>T (p.His2021Tyr) c.509C>T c.7262C>T (n.7262C>T) c.269C>T n.368C>T n.540C>T c.7117C>T (p.His2373Tyr) c.7093C>T (p.His2365Tyr) c.7153C>T (p.His2385Tyr)	dbSNP COSMIC COSMIC COSMIC
17	g.31343073A>C	CA399015649	NF1	c.7109A>C (p.His2370Pro) c.1691A>C (p.His564Pro) c.1283A>C (p.His428Pro) n.3772A>C c.66A>C c.7157A>C (p.His2386Pro) c.7127A>C (p.His2376Pro) c.7064A>C (p.His2355Pro) c.6062A>C (p.His2021Pro) c.510A>C c.7263A>C (n.7263A>C) c.270A>C n.369A>C n.541A>C c.7118A>C (p.His2373Pro) c.7094A>C (p.His2365Pro) c.7154A>C (p.His2385Pro)
17	g.31343073A>G	CA399015650	NF1	c.7109A>G (p.His2370Arg) c.1691A>G (p.His564Arg) c.1283A>G (p.His428Arg) n.3772A>G c.66A>G c.7157A>G (p.His2386Arg) c.7127A>G (p.His2376Arg) c.7064A>G (p.His2355Arg) c.6062A>G (p.His2021Arg) c.510A>G c.7263A>G (n.7263A>G) c.270A>G n.369A>G n.541A>G c.7118A>G (p.His2373Arg) c.7094A>G (p.His2365Arg) c.7154A>G (p.His2385Arg)
17	g.31343073A>T	CA399015651	NF1	c.7109A>T (p.His2370Leu) c.1691A>T (p.His564Leu) c.1283A>T (p.His428Leu) n.3772A>T c.66A>T c.7157A>T (p.His2386Leu) c.7127A>T (p.His2376Leu) c.7064A>T (p.His2355Leu) c.6062A>T (p.His2021Leu) c.510A>T c.7263A>T (n.7263A>T) c.270A>T n.369A>T n.541A>T c.7118A>T (p.His2373Leu) c.7094A>T (p.His2365Leu) c.7154A>T (p.His2385Leu)
17	g.31343073_31343074delinsAT	CA2255605093	NF1	c.7109_7110delinsAT (p.His2370=) c.1691_1692delinsAT (p.His564=) c.1283_1284delinsAT (p.His428=) n.3772_3773delinsAT c.66_67delinsAT c.7157_7158delinsAT (p.His2386=) c.7127_7128delinsAT (p.His2376=) c.7064_7065delinsAT (p.His2355=) c.6062_6063delinsAT (p.His2021=) c.510_511delinsAT c.7263_7264delinsAT (n.7263_7264delinsAT) c.270_271delinsAT n.369_370delinsAT n.541_542delinsAT c.7118_7119delinsAT (p.His2373=) c.7094_7095delinsAT (p.His2365=) c.7154_7155delinsAT (p.His2385=)
17	g.31343074T>A	CA399015652	NF1	c.7110T>A (p.His2370Gln) c.1692T>A (p.His564Gln) c.1284T>A (p.His428Gln) n.3773T>A c.67T>A c.7158T>A (p.His2386Gln) c.7128T>A (p.His2376Gln) c.7065T>A (p.His2355Gln) c.6063T>A (p.His2021Gln) c.511T>A c.7264T>A (n.7264T>A) c.271T>A n.370T>A n.542T>A c.7119T>A (p.His2373Gln) c.7095T>A (p.His2365Gln) c.7155T>A (p.His2385Gln)
17	g.31343074T>C	CA499236831	NF1	c.7110T>C (p.His2370=) c.1692T>C (p.His564=) c.1284T>C (p.His428=) n.3773T>C c.67T>C c.7158T>C (p.His2386=) c.7128T>C (p.His2376=) c.7065T>C (p.His2355=) c.6063T>C (p.His2021=) c.511T>C c.7264T>C (n.7264T>C) c.271T>C n.370T>C n.542T>C c.7119T>C (p.His2373=) c.7095T>C (p.His2365=) c.7155T>C (p.His2385=)	ClinVar dbSNP
17	g.31343074T>G	CA399015653	NF1	c.7110T>G (p.His2370Gln) c.1692T>G (p.His564Gln) c.1284T>G (p.His428Gln) n.3773T>G c.67T>G c.7158T>G (p.His2386Gln) c.7128T>G (p.His2376Gln) c.7065T>G (p.His2355Gln) c.6063T>G (p.His2021Gln) c.511T>G c.7264T>G (n.7264T>G) c.271T>G n.370T>G n.542T>G c.7119T>G (p.His2373Gln) c.7095T>G (p.His2365Gln) c.7155T>G (p.His2385Gln)
17	g.31343074T=	CA2255605094	NF1	c.7110T= (p.His2370=) c.1692T= (p.His564=) c.1284T= (p.His428=) n.3773T= c.67T= c.7158T= (p.His2386=) c.7128T= (p.His2376=) c.7065T= (p.His2355=) c.6063T= (p.His2021=) c.511T= c.7264T= (n.7264T=) c.271T= n.370T= n.542T= c.7119T= (p.His2373=) c.7095T= (p.His2365=) c.7155T= (p.His2385=)
17	g.31343077dup	CA1139665465	NF1	c.7113dup (p.Val2372CysfsTer8) c.1695dup (p.Val566CysfsTer8) c.1287dup (p.Val430CysfsTer8) n.3776dup c.70dup c.7161dup (p.Val2388CysfsTer8) c.7131dup (p.Val2378CysfsTer8) c.7068dup (p.Val2357CysfsTer8) c.6066dup (p.Val2023CysfsTer8) c.514dup c.7267dup (n.7267dup) c.274dup n.373dup n.545dup c.7122dup (p.Val2375CysfsTer8) c.7098dup (p.Val2367CysfsTer8) c.7158dup (p.Val2387CysfsTer8)	ClinVar dbSNP
17	g.31343077del	CA915949803	NF1	c.7113del (p.Phe2371LeufsTer19) c.1695del (p.Phe565LeufsTer19) c.1287del (p.Phe429LeufsTer19) n.3776del c.70del c.7161del (p.Phe2387LeufsTer19) c.7131del (p.Phe2377LeufsTer19) c.7068del (p.Phe2356LeufsTer19) c.6066del (p.Phe2022LeufsTer19) c.514del c.7267del (n.7267del) c.274del n.373del n.545del c.7122del (p.Phe2374LeufsTer19) c.7098del (p.Phe2366LeufsTer19) c.7158del (p.Phe2386LeufsTer19)	ClinVar dbSNP
17	g.31343075T>A	CA399015654	NF1	c.7111T>A (p.Phe2371Ile) c.1693T>A (p.Phe565Ile) c.1285T>A (p.Phe429Ile) n.3774T>A c.68T>A c.7159T>A (p.Phe2387Ile) c.7129T>A (p.Phe2377Ile) c.7066T>A (p.Phe2356Ile) c.6064T>A (p.Phe2022Ile) c.512T>A c.7265T>A (n.7265T>A) c.272T>A n.371T>A n.543T>A c.7120T>A (p.Phe2374Ile) c.7096T>A (p.Phe2366Ile) c.7156T>A (p.Phe2386Ile)
17	g.31343075T>C	CA399015656	NF1	c.7111T>C (p.Phe2371Leu) c.1693T>C (p.Phe565Leu) c.1285T>C (p.Phe429Leu) n.3774T>C c.68T>C c.7159T>C (p.Phe2387Leu) c.7129T>C (p.Phe2377Leu) c.7066T>C (p.Phe2356Leu) c.6064T>C (p.Phe2022Leu) c.512T>C c.7265T>C (n.7265T>C) c.272T>C n.371T>C n.543T>C c.7120T>C (p.Phe2374Leu) c.7096T>C (p.Phe2366Leu) c.7156T>C (p.Phe2386Leu)
17	g.31343075T>G	CA399015655	NF1	c.7111T>G (p.Phe2371Val) c.1693T>G (p.Phe565Val) c.1285T>G (p.Phe429Val) n.3774T>G c.68T>G c.7159T>G (p.Phe2387Val) c.7129T>G (p.Phe2377Val) c.7066T>G (p.Phe2356Val) c.6064T>G (p.Phe2022Val) c.512T>G c.7265T>G (n.7265T>G) c.272T>G n.371T>G n.543T>G c.7120T>G (p.Phe2374Val) c.7096T>G (p.Phe2366Val) c.7156T>G (p.Phe2386Val)
17	g.31343076T>A	CA399015657	NF1	c.7112T>A (p.Phe2371Tyr) c.1694T>A (p.Phe565Tyr) c.1286T>A (p.Phe429Tyr) n.3775T>A c.69T>A c.7160T>A (p.Phe2387Tyr) c.7130T>A (p.Phe2377Tyr) c.7067T>A (p.Phe2356Tyr) c.6065T>A (p.Phe2022Tyr) c.513T>A c.7266T>A (n.7266T>A) c.273T>A n.372T>A n.544T>A c.7121T>A (p.Phe2374Tyr) c.7097T>A (p.Phe2366Tyr) c.7157T>A (p.Phe2386Tyr)	dbSNP
17	g.31343076T>C	CA399015658	NF1	c.7112T>C (p.Phe2371Ser) c.1694T>C (p.Phe565Ser) c.1286T>C (p.Phe429Ser) n.3775T>C c.69T>C c.7160T>C (p.Phe2387Ser) c.7130T>C (p.Phe2377Ser) c.7067T>C (p.Phe2356Ser) c.6065T>C (p.Phe2022Ser) c.513T>C c.7266T>C (n.7266T>C) c.273T>C n.372T>C n.544T>C c.7121T>C (p.Phe2374Ser) c.7097T>C (p.Phe2366Ser) c.7157T>C (p.Phe2386Ser)
17	g.31343076T>G	CA399015659	NF1	c.7112T>G (p.Phe2371Cys) c.1694T>G (p.Phe565Cys) c.1286T>G (p.Phe429Cys) n.3775T>G c.69T>G c.7160T>G (p.Phe2387Cys) c.7130T>G (p.Phe2377Cys) c.7067T>G (p.Phe2356Cys) c.6065T>G (p.Phe2022Cys) c.513T>G c.7266T>G (n.7266T>G) c.273T>G n.372T>G n.544T>G c.7121T>G (p.Phe2374Cys) c.7097T>G (p.Phe2366Cys) c.7157T>G (p.Phe2386Cys)
17	g.31343077T>A	CA399015660	NF1	c.7113T>A (p.Phe2371Leu) c.1695T>A (p.Phe565Leu) c.1287T>A (p.Phe429Leu) n.3776T>A c.70T>A c.7161T>A (p.Phe2387Leu) c.7131T>A (p.Phe2377Leu) c.7068T>A (p.Phe2356Leu) c.6066T>A (p.Phe2022Leu) c.514T>A c.7267T>A (n.7267T>A) c.274T>A n.373T>A n.545T>A c.7122T>A (p.Phe2374Leu) c.7098T>A (p.Phe2366Leu) c.7158T>A (p.Phe2386Leu)
17	g.31343077T>C	CA499236832	NF1	c.7113T>C (p.Phe2371=) c.1695T>C (p.Phe565=) c.1287T>C (p.Phe429=) n.3776T>C c.70T>C c.7161T>C (p.Phe2387=) c.7131T>C (p.Phe2377=) c.7068T>C (p.Phe2356=) c.6066T>C (p.Phe2022=) c.514T>C c.7267T>C (n.7267T>C) c.274T>C n.373T>C n.545T>C c.7122T>C (p.Phe2374=) c.7098T>C (p.Phe2366=) c.7158T>C (p.Phe2386=)
17	g.31343077T>G	CA399015661	NF1	c.7113T>G (p.Phe2371Leu) c.1695T>G (p.Phe565Leu) c.1287T>G (p.Phe429Leu) n.3776T>G c.70T>G c.7161T>G (p.Phe2387Leu) c.7131T>G (p.Phe2377Leu) c.7068T>G (p.Phe2356Leu) c.6066T>G (p.Phe2022Leu) c.514T>G c.7267T>G (n.7267T>G) c.274T>G n.373T>G n.545T>G c.7122T>G (p.Phe2374Leu) c.7098T>G (p.Phe2366Leu) c.7158T>G (p.Phe2386Leu)
17	g.31343078G>A	CA399015663	NF1	c.7114G>A (p.Val2372Ile) c.1696G>A (p.Val566Ile) c.1288G>A (p.Val430Ile) n.3777G>A c.71G>A c.7162G>A (p.Val2388Ile) c.7132G>A (p.Val2378Ile) c.7069G>A (p.Val2357Ile) c.6067G>A (p.Val2023Ile) c.515G>A c.7268G>A (n.7268G>A) c.275G>A n.374G>A n.546G>A c.7123G>A (p.Val2375Ile) c.7099G>A (p.Val2367Ile) c.7159G>A (p.Val2387Ile)
17	g.31343078G>C	CA8487501	NF1	c.7114G>C (p.Val2372Leu) c.1696G>C (p.Val566Leu) c.1288G>C (p.Val430Leu) n.3777G>C c.71G>C c.7162G>C (p.Val2388Leu) c.7132G>C (p.Val2378Leu) c.7069G>C (p.Val2357Leu) c.6067G>C (p.Val2023Leu) c.515G>C c.7268G>C (n.7268G>C) c.275G>C n.374G>C n.546G>C c.7123G>C (p.Val2375Leu) c.7099G>C (p.Val2367Leu) c.7159G>C (p.Val2387Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.31343078G=	CA2255605095	NF1	c.7114G= (p.Val2372=) c.1696G= (p.Val566=) c.1288G= (p.Val430=) n.3777G= c.71G= c.7162G= (p.Val2388=) c.7132G= (p.Val2378=) c.7069G= (p.Val2357=) c.6067G= (p.Val2023=) c.515G= c.7268G= (n.7268G=) c.275G= n.374G= n.546G= c.7123G= (p.Val2375=) c.7099G= (p.Val2367=) c.7159G= (p.Val2387=)
17	g.31343078G>T	CA399015662	NF1	c.7114G>T (p.Val2372Phe) c.1696G>T (p.Val566Phe) c.1288G>T (p.Val430Phe) n.3777G>T c.71G>T c.7162G>T (p.Val2388Phe) c.7132G>T (p.Val2378Phe) c.7069G>T (p.Val2357Phe) c.6067G>T (p.Val2023Phe) c.515G>T c.7268G>T (n.7268G>T) c.275G>T n.374G>T n.546G>T c.7123G>T (p.Val2375Phe) c.7099G>T (p.Val2367Phe) c.7159G>T (p.Val2387Phe)
17	g.31343079T>A	CA399015664	NF1	c.7115T>A (p.Val2372Asp) c.1697T>A (p.Val566Asp) c.1289T>A (p.Val430Asp) n.3778T>A c.72T>A c.7163T>A (p.Val2388Asp) c.7133T>A (p.Val2378Asp) c.7070T>A (p.Val2357Asp) c.6068T>A (p.Val2023Asp) c.516T>A c.7269T>A (n.7269T>A) c.276T>A n.375T>A n.547T>A c.7124T>A (p.Val2375Asp) c.7100T>A (p.Val2367Asp) c.7160T>A (p.Val2387Asp)	dbSNP
17	g.31343079T>C	CA399015665	NF1	c.7115T>C (p.Val2372Ala) c.1697T>C (p.Val566Ala) c.1289T>C (p.Val430Ala) n.3778T>C c.72T>C c.7163T>C (p.Val2388Ala) c.7133T>C (p.Val2378Ala) c.7070T>C (p.Val2357Ala) c.6068T>C (p.Val2023Ala) c.516T>C c.7269T>C (n.7269T>C) c.276T>C n.375T>C n.547T>C c.7124T>C (p.Val2375Ala) c.7100T>C (p.Val2367Ala) c.7160T>C (p.Val2387Ala)
17	g.31343079T>G	CA399015666	NF1	c.7115T>G (p.Val2372Gly) c.1697T>G (p.Val566Gly) c.1289T>G (p.Val430Gly) n.3778T>G c.72T>G c.7163T>G (p.Val2388Gly) c.7133T>G (p.Val2378Gly) c.7070T>G (p.Val2357Gly) c.6068T>G (p.Val2023Gly) c.516T>G c.7269T>G (n.7269T>G) c.276T>G n.375T>G n.547T>G c.7124T>G (p.Val2375Gly) c.7100T>G (p.Val2367Gly) c.7160T>G (p.Val2387Gly)
17	g.31343080T>A	CA499236833	NF1	c.7116T>A (p.Val2372=) c.1698T>A (p.Val566=) c.1290T>A (p.Val430=) n.3779T>A c.73T>A c.7164T>A (p.Val2388=) c.7134T>A (p.Val2378=) c.7071T>A (p.Val2357=) c.6069T>A (p.Val2023=) c.517T>A c.7270T>A (n.7270T>A) c.277T>A n.376T>A n.548T>A c.7125T>A (p.Val2375=) c.7101T>A (p.Val2367=) c.7161T>A (p.Val2387=)
17	g.31343080T>C	CA499236834	NF1	c.7116T>C (p.Val2372=) c.1698T>C (p.Val566=) c.1290T>C (p.Val430=) n.3779T>C c.73T>C c.7164T>C (p.Val2388=) c.7134T>C (p.Val2378=) c.7071T>C (p.Val2357=) c.6069T>C (p.Val2023=) c.517T>C c.7270T>C (n.7270T>C) c.277T>C n.376T>C n.548T>C c.7125T>C (p.Val2375=) c.7101T>C (p.Val2367=) c.7161T>C (p.Val2387=)
17	g.31343080T>G	CA499236835	NF1	c.7116T>G (p.Val2372=) c.1698T>G (p.Val566=) c.1290T>G (p.Val430=) n.3779T>G c.73T>G c.7164T>G (p.Val2388=) c.7134T>G (p.Val2378=) c.7071T>G (p.Val2357=) c.6069T>G (p.Val2023=) c.517T>G c.7270T>G (n.7270T>G) c.277T>G n.376T>G n.548T>G c.7125T>G (p.Val2375=) c.7101T>G (p.Val2367=) c.7161T>G (p.Val2387=)	ClinVar dbSNP
17	g.31343080T=	CA2255605096	NF1	c.7116T= (p.Val2372=) c.1698T= (p.Val566=) c.1290T= (p.Val430=) n.3779T= c.73T= c.7164T= (p.Val2388=) c.7134T= (p.Val2378=) c.7071T= (p.Val2357=) c.6069T= (p.Val2023=) c.517T= c.7270T= (n.7270T=) c.277T= n.376T= n.548T= c.7125T= (p.Val2375=) c.7101T= (p.Val2367=) c.7161T= (p.Val2387=)
17	g.31343081G>A	CA8487502	NF1	c.7117G>A (p.Gly2373Arg) c.1699G>A (p.Gly567Arg) c.1291G>A (p.Gly431Arg) n.3780G>A c.74G>A c.7165G>A (p.Gly2389Arg) c.7135G>A (p.Gly2379Arg) c.7072G>A (p.Gly2358Arg) c.6070G>A (p.Gly2024Arg) c.518G>A c.7271G>A (n.7271G>A) c.278G>A n.377G>A n.549G>A c.7126G>A (p.Gly2376Arg) c.7102G>A (p.Gly2368Arg) c.7162G>A (p.Gly2388Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343081G>C	CA399015667	NF1	c.7117G>C (p.Gly2373Arg) c.1699G>C (p.Gly567Arg) c.1291G>C (p.Gly431Arg) n.3780G>C c.74G>C c.7165G>C (p.Gly2389Arg) c.7135G>C (p.Gly2379Arg) c.7072G>C (p.Gly2358Arg) c.6070G>C (p.Gly2024Arg) c.518G>C c.7271G>C (n.7271G>C) c.278G>C n.377G>C n.549G>C c.7126G>C (p.Gly2376Arg) c.7102G>C (p.Gly2368Arg) c.7162G>C (p.Gly2388Arg)	dbSNP
17	g.31343081G=	CA2255605097	NF1	c.7117G= (p.Gly2373=) c.1699G= (p.Gly567=) c.1291G= (p.Gly431=) n.3780G= c.74G= c.7165G= (p.Gly2389=) c.7135G= (p.Gly2379=) c.7072G= (p.Gly2358=) c.6070G= (p.Gly2024=) c.518G= c.7271G= (n.7271G=) c.278G= n.377G= n.549G= c.7126G= (p.Gly2376=) c.7102G= (p.Gly2368=) c.7162G= (p.Gly2388=)
17	g.31343081G>T	CA399015668	NF1	c.7117G>T (p.Gly2373Ter) c.1699G>T (p.Gly567Ter) c.1291G>T (p.Gly431Ter) n.3780G>T c.74G>T c.7165G>T (p.Gly2389Ter) c.7135G>T (p.Gly2379Ter) c.7072G>T (p.Gly2358Ter) c.6070G>T (p.Gly2024Ter) c.518G>T c.7271G>T (n.7271G>T) c.278G>T n.377G>T n.549G>T c.7126G>T (p.Gly2376Ter) c.7102G>T (p.Gly2368Ter) c.7162G>T (p.Gly2388Ter)	ClinVar dbSNP
17	g.31343082del	CA2733617044	NF1	c.7118del (p.Gly2373AspfsTer17) c.1700del (p.Gly567AspfsTer17) c.1292del (p.Gly431AspfsTer17) n.3781del c.75del c.7166del (p.Gly2389AspfsTer17) c.7136del (p.Gly2379AspfsTer17) c.7073del (p.Gly2358AspfsTer17) c.6071del (p.Gly2024AspfsTer17) c.519del c.7272del (n.7272del) c.279del n.378del n.550del c.7127del (p.Gly2376AspfsTer17) c.7103del (p.Gly2368AspfsTer17) c.7163del (p.Gly2388AspfsTer17)	dbSNP
17	g.31343082G>A	CA399015671	NF1	c.7118G>A (p.Gly2373Glu) c.1700G>A (p.Gly567Glu) c.1292G>A (p.Gly431Glu) n.3781G>A c.75G>A c.7166G>A (p.Gly2389Glu) c.7136G>A (p.Gly2379Glu) c.7073G>A (p.Gly2358Glu) c.6071G>A (p.Gly2024Glu) c.519G>A c.7272G>A (n.7272G>A) c.279G>A n.378G>A n.550G>A c.7127G>A (p.Gly2376Glu) c.7103G>A (p.Gly2368Glu) c.7163G>A (p.Gly2388Glu)	dbSNP
17	g.31343082G>C	CA399015669	NF1	c.7118G>C (p.Gly2373Ala) c.1700G>C (p.Gly567Ala) c.1292G>C (p.Gly431Ala) n.3781G>C c.75G>C c.7166G>C (p.Gly2389Ala) c.7136G>C (p.Gly2379Ala) c.7073G>C (p.Gly2358Ala) c.6071G>C (p.Gly2024Ala) c.519G>C c.7272G>C (n.7272G>C) c.279G>C n.378G>C n.550G>C c.7127G>C (p.Gly2376Ala) c.7103G>C (p.Gly2368Ala) c.7163G>C (p.Gly2388Ala)	dbSNP
17	g.31343082G>T	CA399015670	NF1	c.7118G>T (p.Gly2373Val) c.1700G>T (p.Gly567Val) c.1292G>T (p.Gly431Val) n.3781G>T c.75G>T c.7166G>T (p.Gly2389Val) c.7136G>T (p.Gly2379Val) c.7073G>T (p.Gly2358Val) c.6071G>T (p.Gly2024Val) c.519G>T c.7272G>T (n.7272G>T) c.279G>T n.378G>T n.550G>T c.7127G>T (p.Gly2376Val) c.7103G>T (p.Gly2368Val) c.7163G>T (p.Gly2388Val)	dbSNP
17	g.31343083A>C	CA499236836	NF1	c.7119A>C (p.Gly2373=) c.1701A>C (p.Gly567=) c.1293A>C (p.Gly431=) n.3782A>C c.76A>C c.7167A>C (p.Gly2389=) c.7137A>C (p.Gly2379=) c.7074A>C (p.Gly2358=) c.6072A>C (p.Gly2024=) c.520A>C c.7273A>C (n.7273A>C) c.280A>C n.379A>C n.551A>C c.7128A>C (p.Gly2376=) c.7104A>C (p.Gly2368=) c.7164A>C (p.Gly2388=)
17	g.31343083A>G	CA499236838	NF1	c.7119A>G (p.Gly2373=) c.1701A>G (p.Gly567=) c.1293A>G (p.Gly431=) n.3782A>G c.76A>G c.7167A>G (p.Gly2389=) c.7137A>G (p.Gly2379=) c.7074A>G (p.Gly2358=) c.6072A>G (p.Gly2024=) c.520A>G c.7273A>G (n.7273A>G) c.280A>G n.379A>G n.551A>G c.7128A>G (p.Gly2376=) c.7104A>G (p.Gly2368=) c.7164A>G (p.Gly2388=)
17	g.31343083A>T	CA499236837	NF1	c.7119A>T (p.Gly2373=) c.1701A>T (p.Gly567=) c.1293A>T (p.Gly431=) n.3782A>T c.76A>T c.7167A>T (p.Gly2389=) c.7137A>T (p.Gly2379=) c.7074A>T (p.Gly2358=) c.6072A>T (p.Gly2024=) c.520A>T c.7273A>T (n.7273A>T) c.280A>T n.379A>T n.551A>T c.7128A>T (p.Gly2376=) c.7104A>T (p.Gly2368=) c.7164A>T (p.Gly2388=)	dbSNP
17	g.31343084C>A	CA399015672	NF1	c.7120C>A (p.Leu2374Ile) c.1702C>A (p.Leu568Ile) c.1294C>A (p.Leu432Ile) n.3783C>A c.77C>A c.7168C>A (p.Leu2390Ile) c.7138C>A (p.Leu2380Ile) c.7075C>A (p.Leu2359Ile) c.6073C>A (p.Leu2025Ile) c.521C>A c.7274C>A (n.7274C>A) c.281C>A n.380C>A n.552C>A c.7129C>A (p.Leu2377Ile) c.7105C>A (p.Leu2369Ile) c.7165C>A (p.Leu2389Ile)
17	g.31343084C=	CA2255605098	NF1	c.7120C= (p.Leu2374=) c.1702C= (p.Leu568=) c.1294C= (p.Leu432=) n.3783C= c.77C= c.7168C= (p.Leu2390=) c.7138C= (p.Leu2380=) c.7075C= (p.Leu2359=) c.6073C= (p.Leu2025=) c.521C= c.7274C= (n.7274C=) c.281C= n.380C= n.552C= c.7129C= (p.Leu2377=) c.7105C= (p.Leu2369=) c.7165C= (p.Leu2389=)
17	g.31343084C>G	CA399015673	NF1	c.7120C>G (p.Leu2374Val) c.1702C>G (p.Leu568Val) c.1294C>G (p.Leu432Val) n.3783C>G c.77C>G c.7168C>G (p.Leu2390Val) c.7138C>G (p.Leu2380Val) c.7075C>G (p.Leu2359Val) c.6073C>G (p.Leu2025Val) c.521C>G c.7274C>G (n.7274C>G) c.281C>G n.380C>G n.552C>G c.7129C>G (p.Leu2377Val) c.7105C>G (p.Leu2369Val) c.7165C>G (p.Leu2389Val)	dbSNP gnomAD v4
17	g.31343084C>T	CA399015674	NF1	c.7120C>T (p.Leu2374Phe) c.1702C>T (p.Leu568Phe) c.1294C>T (p.Leu432Phe) n.3783C>T c.77C>T c.7168C>T (p.Leu2390Phe) c.7138C>T (p.Leu2380Phe) c.7075C>T (p.Leu2359Phe) c.6073C>T (p.Leu2025Phe) c.521C>T c.7274C>T (n.7274C>T) c.281C>T n.380C>T n.552C>T c.7129C>T (p.Leu2377Phe) c.7105C>T (p.Leu2369Phe) c.7165C>T (p.Leu2389Phe)	ClinVar dbSNP
17	g.31343085T>A	CA399015675	NF1	c.7121T>A (p.Leu2374His) c.1703T>A (p.Leu568His) c.1295T>A (p.Leu432His) n.3784T>A c.78T>A c.7169T>A (p.Leu2390His) c.7139T>A (p.Leu2380His) c.7076T>A (p.Leu2359His) c.6074T>A (p.Leu2025His) c.522T>A c.7275T>A (n.7275T>A) c.282T>A n.381T>A n.553T>A c.7130T>A (p.Leu2377His) c.7106T>A (p.Leu2369His) c.7166T>A (p.Leu2389His)	dbSNP
17	g.31343085T>C	CA399015676	NF1	c.7121T>C (p.Leu2374Pro) c.1703T>C (p.Leu568Pro) c.1295T>C (p.Leu432Pro) n.3784T>C c.78T>C c.7169T>C (p.Leu2390Pro) c.7139T>C (p.Leu2380Pro) c.7076T>C (p.Leu2359Pro) c.6074T>C (p.Leu2025Pro) c.522T>C c.7275T>C (n.7275T>C) c.282T>C n.381T>C n.553T>C c.7130T>C (p.Leu2377Pro) c.7106T>C (p.Leu2369Pro) c.7166T>C (p.Leu2389Pro)	ClinVar dbSNP
17	g.31343085T>G	CA399015677	NF1	c.7121T>G (p.Leu2374Arg) c.1703T>G (p.Leu568Arg) c.1295T>G (p.Leu432Arg) n.3784T>G c.78T>G c.7169T>G (p.Leu2390Arg) c.7139T>G (p.Leu2380Arg) c.7076T>G (p.Leu2359Arg) c.6074T>G (p.Leu2025Arg) c.522T>G c.7275T>G (n.7275T>G) c.282T>G n.381T>G n.553T>G c.7130T>G (p.Leu2377Arg) c.7106T>G (p.Leu2369Arg) c.7166T>G (p.Leu2389Arg)	COSMIC COSMIC
17	g.31343085T=	CA2255605099	NF1	c.7121T= (p.Leu2374=) c.1703T= (p.Leu568=) c.1295T= (p.Leu432=) n.3784T= c.78T= c.7169T= (p.Leu2390=) c.7139T= (p.Leu2380=) c.7076T= (p.Leu2359=) c.6074T= (p.Leu2025=) c.522T= c.7275T= (n.7275T=) c.282T= n.381T= n.553T= c.7130T= (p.Leu2377=) c.7106T= (p.Leu2369=) c.7166T= (p.Leu2389=)
17	g.31343086C>A	CA499236839	NF1	c.7122C>A (p.Leu2374=) c.1704C>A (p.Leu568=) c.1296C>A (p.Leu432=) n.3785C>A c.79C>A c.7170C>A (p.Leu2390=) c.7140C>A (p.Leu2380=) c.7077C>A (p.Leu2359=) c.6075C>A (p.Leu2025=) c.523C>A c.7276C>A (n.7276C>A) c.283C>A n.382C>A n.554C>A c.7131C>A (p.Leu2377=) c.7107C>A (p.Leu2369=) c.7167C>A (p.Leu2389=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.31343086C=	CA2255605100	NF1	c.7122C= (p.Leu2374=) c.1704C= (p.Leu568=) c.1296C= (p.Leu432=) n.3785C= c.79C= c.7170C= (p.Leu2390=) c.7140C= (p.Leu2380=) c.7077C= (p.Leu2359=) c.6075C= (p.Leu2025=) c.523C= c.7276C= (n.7276C=) c.283C= n.382C= n.554C= c.7131C= (p.Leu2377=) c.7107C= (p.Leu2369=) c.7167C= (p.Leu2389=)
17	g.31343086C>G	CA499236840	NF1	c.7122C>G (p.Leu2374=) c.1704C>G (p.Leu568=) c.1296C>G (p.Leu432=) n.3785C>G c.79C>G c.7170C>G (p.Leu2390=) c.7140C>G (p.Leu2380=) c.7077C>G (p.Leu2359=) c.6075C>G (p.Leu2025=) c.523C>G c.7276C>G (n.7276C>G) c.283C>G n.382C>G n.554C>G c.7131C>G (p.Leu2377=) c.7107C>G (p.Leu2369=) c.7167C>G (p.Leu2389=)	ClinVar dbSNP gnomAD v4
17	g.31343086C>T	CA499236841	NF1	c.7122C>T (p.Leu2374=) c.1704C>T (p.Leu568=) c.1296C>T (p.Leu432=) n.3785C>T c.79C>T c.7170C>T (p.Leu2390=) c.7140C>T (p.Leu2380=) c.7077C>T (p.Leu2359=) c.6075C>T (p.Leu2025=) c.523C>T c.7276C>T (n.7276C>T) c.283C>T n.382C>T n.554C>T c.7131C>T (p.Leu2377=) c.7107C>T (p.Leu2369=) c.7167C>T (p.Leu2389=)	dbSNP
17	g.31343087A>C	CA399015678	NF1	c.7123A>C (p.Asn2375His) c.1705A>C (p.Asn569His) c.1297A>C (p.Asn433His) n.3786A>C c.80A>C c.7171A>C (p.Asn2391His) c.7141A>C (p.Asn2381His) c.7078A>C (p.Asn2360His) c.6076A>C (p.Asn2026His) c.524A>C c.7277A>C (n.7277A>C) c.284A>C n.383A>C n.555A>C c.7132A>C (p.Asn2378His) c.7108A>C (p.Asn2370His) c.7168A>C (p.Asn2390His)
17	g.31343087A>G	CA399015679	NF1	c.7123A>G (p.Asn2375Asp) c.1705A>G (p.Asn569Asp) c.1297A>G (p.Asn433Asp) n.3786A>G c.80A>G c.7171A>G (p.Asn2391Asp) c.7141A>G (p.Asn2381Asp) c.7078A>G (p.Asn2360Asp) c.6076A>G (p.Asn2026Asp) c.524A>G c.7277A>G (n.7277A>G) c.284A>G n.383A>G n.555A>G c.7132A>G (p.Asn2378Asp) c.7108A>G (p.Asn2370Asp) c.7168A>G (p.Asn2390Asp)
17	g.31343087A>T	CA399015680	NF1	c.7123A>T (p.Asn2375Tyr) c.1705A>T (p.Asn569Tyr) c.1297A>T (p.Asn433Tyr) n.3786A>T c.80A>T c.7171A>T (p.Asn2391Tyr) c.7141A>T (p.Asn2381Tyr) c.7078A>T (p.Asn2360Tyr) c.6076A>T (p.Asn2026Tyr) c.524A>T c.7277A>T (n.7277A>T) c.284A>T n.383A>T n.555A>T c.7132A>T (p.Asn2378Tyr) c.7108A>T (p.Asn2370Tyr) c.7168A>T (p.Asn2390Tyr)
17	g.31343088dup	CA916080695	NF1	c.7124dup (p.Asn2375LysfsTer5) c.1706dup (p.Asn569LysfsTer5) c.1298dup (p.Asn433LysfsTer5) n.3787dup c.81dup c.7172dup (p.Asn2391LysfsTer5) c.7142dup (p.Asn2381LysfsTer5) c.7079dup (p.Asn2360LysfsTer5) c.6077dup (p.Asn2026LysfsTer5) c.525dup c.7278dup (n.7278dup) c.285dup n.384dup n.556dup c.7133dup (p.Asn2378LysfsTer5) c.7109dup (p.Asn2370LysfsTer5) c.7169dup (p.Asn2390LysfsTer5)	ClinVar dbSNP
17	g.31343088A=	CA2255605101	NF1	c.7124A= (p.Asn2375=) c.1706A= (p.Asn569=) c.1298A= (p.Asn433=) n.3787A= c.81A= c.7172A= (p.Asn2391=) c.7142A= (p.Asn2381=) c.7079A= (p.Asn2360=) c.6077A= (p.Asn2026=) c.525A= c.7278A= (n.7278A=) c.285A= n.384A= n.556A= c.7133A= (p.Asn2378=) c.7109A= (p.Asn2370=) c.7169A= (p.Asn2390=)
17	g.31343088A>C	CA399015681	NF1	c.7124A>C (p.Asn2375Thr) c.1706A>C (p.Asn569Thr) c.1298A>C (p.Asn433Thr) n.3787A>C c.81A>C c.7172A>C (p.Asn2391Thr) c.7142A>C (p.Asn2381Thr) c.7079A>C (p.Asn2360Thr) c.6077A>C (p.Asn2026Thr) c.525A>C c.7278A>C (n.7278A>C) c.285A>C n.384A>C n.556A>C c.7133A>C (p.Asn2378Thr) c.7109A>C (p.Asn2370Thr) c.7169A>C (p.Asn2390Thr)
17	g.31343088A>G	CA10583521	NF1	c.7124A>G (p.Asn2375Ser) c.1706A>G (p.Asn569Ser) c.1298A>G (p.Asn433Ser) n.3787A>G c.81A>G c.7172A>G (p.Asn2391Ser) c.7142A>G (p.Asn2381Ser) c.7079A>G (p.Asn2360Ser) c.6077A>G (p.Asn2026Ser) c.525A>G c.7278A>G (n.7278A>G) c.285A>G n.384A>G n.556A>G c.7133A>G (p.Asn2378Ser) c.7109A>G (p.Asn2370Ser) c.7169A>G (p.Asn2390Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343088A>T	CA399015682	NF1	c.7124A>T (p.Asn2375Ile) c.1706A>T (p.Asn569Ile) c.1298A>T (p.Asn433Ile) n.3787A>T c.81A>T c.7172A>T (p.Asn2391Ile) c.7142A>T (p.Asn2381Ile) c.7079A>T (p.Asn2360Ile) c.6077A>T (p.Asn2026Ile) c.525A>T c.7278A>T (n.7278A>T) c.285A>T n.384A>T n.556A>T c.7133A>T (p.Asn2378Ile) c.7109A>T (p.Asn2370Ile) c.7169A>T (p.Asn2390Ile)	dbSNP
17	g.31343089T>A	CA399015683	NF1	c.7125T>A (p.Asn2375Lys) c.1707T>A (p.Asn569Lys) c.1299T>A (p.Asn433Lys) n.3788T>A c.82T>A c.7173T>A (p.Asn2391Lys) c.7143T>A (p.Asn2381Lys) c.7080T>A (p.Asn2360Lys) c.6078T>A (p.Asn2026Lys) c.526T>A c.7279T>A (n.7279T>A) c.286T>A n.385T>A n.557T>A c.7134T>A (p.Asn2378Lys) c.7110T>A (p.Asn2370Lys) c.7170T>A (p.Asn2390Lys)	dbSNP
17	g.31343089T>C	CA8487503	NF1	c.7125T>C (p.Asn2375=) c.1707T>C (p.Asn569=) c.1299T>C (p.Asn433=) n.3788T>C c.82T>C c.7173T>C (p.Asn2391=) c.7143T>C (p.Asn2381=) c.7080T>C (p.Asn2360=) c.6078T>C (p.Asn2026=) c.526T>C c.7279T>C (n.7279T>C) c.286T>C n.385T>C n.557T>C c.7134T>C (p.Asn2378=) c.7110T>C (p.Asn2370=) c.7170T>C (p.Asn2390=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.31343089T>G	CA399015684	NF1	c.7125T>G (p.Asn2375Lys) c.1707T>G (p.Asn569Lys) c.1299T>G (p.Asn433Lys) n.3788T>G c.82T>G c.7173T>G (p.Asn2391Lys) c.7143T>G (p.Asn2381Lys) c.7080T>G (p.Asn2360Lys) c.6078T>G (p.Asn2026Lys) c.526T>G c.7279T>G (n.7279T>G) c.286T>G n.385T>G n.557T>G c.7134T>G (p.Asn2378Lys) c.7110T>G (p.Asn2370Lys) c.7170T>G (p.Asn2390Lys)
17	g.31343089T=	CA2255605102	NF1	c.7125T= (p.Asn2375=) c.1707T= (p.Asn569=) c.1299T= (p.Asn433=) n.3788T= c.82T= c.7173T= (p.Asn2391=) c.7143T= (p.Asn2381=) c.7080T= (p.Asn2360=) c.6078T= (p.Asn2026=) c.526T= c.7279T= (n.7279T=) c.286T= n.385T= n.557T= c.7134T= (p.Asn2378=) c.7110T= (p.Asn2370=) c.7170T= (p.Asn2390=)
17	g.31343091del	CA2573153905	NF1	c.7127del (p.Phe2376SerfsTer14) c.1709del (p.Phe570SerfsTer14) c.1301del (p.Phe434SerfsTer14) n.3790del c.84del c.7175del (p.Phe2392SerfsTer14) c.7145del (p.Phe2382SerfsTer14) c.7082del (p.Phe2361SerfsTer14) c.6080del (p.Phe2027SerfsTer14) c.528del c.7281del (n.7281del) c.288del n.387del n.559del c.7136del (p.Phe2379SerfsTer14) c.7112del (p.Phe2371SerfsTer14) c.7172del (p.Phe2391SerfsTer14)	ClinVar dbSNP
17	g.31343089_31343090insA	CA2695225448	NF1	c.7125_7126insA (p.Phe2376IlefsTer4) c.1707_1708insA (p.Phe570IlefsTer4) c.1299_1300insA (p.Phe434IlefsTer4) n.3788_3789insA c.82_83insA c.7173_7174insA (p.Phe2392IlefsTer4) c.7143_7144insA (p.Phe2382IlefsTer4) c.7080_7081insA (p.Phe2361IlefsTer4) c.6078_6079insA (p.Phe2027IlefsTer4) c.526_527insA c.7279_7280insA (n.7279_7280insA) c.286_287insA n.385_386insA n.557_558insA c.7134_7135insA (p.Phe2379IlefsTer4) c.7110_7111insA (p.Phe2371IlefsTer4) c.7170_7171insA (p.Phe2391IlefsTer4)
17	g.31343090T>A	CA399015685	NF1	c.7126T>A (p.Phe2376Ile) c.1708T>A (p.Phe570Ile) c.1300T>A (p.Phe434Ile) n.3789T>A c.83T>A c.7174T>A (p.Phe2392Ile) c.7144T>A (p.Phe2382Ile) c.7081T>A (p.Phe2361Ile) c.6079T>A (p.Phe2027Ile) c.527T>A c.7280T>A (n.7280T>A) c.287T>A n.386T>A n.558T>A c.7135T>A (p.Phe2379Ile) c.7111T>A (p.Phe2371Ile) c.7171T>A (p.Phe2391Ile)	ClinVar dbSNP
17	g.31343090T>C	CA399015686	NF1	c.7126T>C (p.Phe2376Leu) c.1708T>C (p.Phe570Leu) c.1300T>C (p.Phe434Leu) n.3789T>C c.83T>C c.7174T>C (p.Phe2392Leu) c.7144T>C (p.Phe2382Leu) c.7081T>C (p.Phe2361Leu) c.6079T>C (p.Phe2027Leu) c.527T>C c.7280T>C (n.7280T>C) c.287T>C n.386T>C n.558T>C c.7135T>C (p.Phe2379Leu) c.7111T>C (p.Phe2371Leu) c.7171T>C (p.Phe2391Leu)	dbSNP
17	g.31343090T>G	CA399015687	NF1	c.7126T>G (p.Phe2376Val) c.1708T>G (p.Phe570Val) c.1300T>G (p.Phe434Val) n.3789T>G c.83T>G c.7174T>G (p.Phe2392Val) c.7144T>G (p.Phe2382Val) c.7081T>G (p.Phe2361Val) c.6079T>G (p.Phe2027Val) c.527T>G c.7280T>G (n.7280T>G) c.287T>G n.386T>G n.558T>G c.7135T>G (p.Phe2379Val) c.7111T>G (p.Phe2371Val) c.7171T>G (p.Phe2391Val)
17	g.31343090T=	CA2255605103	NF1	c.7126T= (p.Phe2376=) c.1708T= (p.Phe570=) c.1300T= (p.Phe434=) n.3789T= c.83T= c.7174T= (p.Phe2392=) c.7144T= (p.Phe2382=) c.7081T= (p.Phe2361=) c.6079T= (p.Phe2027=) c.527T= c.7280T= (n.7280T=) c.287T= n.386T= n.558T= c.7135T= (p.Phe2379=) c.7111T= (p.Phe2371=) c.7171T= (p.Phe2391=)
17	g.31343091T>A	CA399015688	NF1	c.7127T>A (p.Phe2376Tyr) c.1709T>A (p.Phe570Tyr) c.1301T>A (p.Phe434Tyr) n.3790T>A c.84T>A c.7175T>A (p.Phe2392Tyr) c.7145T>A (p.Phe2382Tyr) c.7082T>A (p.Phe2361Tyr) c.6080T>A (p.Phe2027Tyr) c.528T>A c.7281T>A (n.7281T>A) c.288T>A n.387T>A n.559T>A c.7136T>A (p.Phe2379Tyr) c.7112T>A (p.Phe2371Tyr) c.7172T>A (p.Phe2391Tyr)	dbSNP
17	g.31343091T>C	CA399015689	NF1	c.7127T>C (p.Phe2376Ser) c.1709T>C (p.Phe570Ser) c.1301T>C (p.Phe434Ser) n.3790T>C c.84T>C c.7175T>C (p.Phe2392Ser) c.7145T>C (p.Phe2382Ser) c.7082T>C (p.Phe2361Ser) c.6080T>C (p.Phe2027Ser) c.528T>C c.7281T>C (n.7281T>C) c.288T>C n.387T>C n.559T>C c.7136T>C (p.Phe2379Ser) c.7112T>C (p.Phe2371Ser) c.7172T>C (p.Phe2391Ser)
17	g.31343091T>G	CA399015690	NF1	c.7127T>G (p.Phe2376Cys) c.1709T>G (p.Phe570Cys) c.1301T>G (p.Phe434Cys) n.3790T>G c.84T>G c.7175T>G (p.Phe2392Cys) c.7145T>G (p.Phe2382Cys) c.7082T>G (p.Phe2361Cys) c.6080T>G (p.Phe2027Cys) c.528T>G c.7281T>G (n.7281T>G) c.288T>G n.387T>G n.559T>G c.7136T>G (p.Phe2379Cys) c.7112T>G (p.Phe2371Cys) c.7172T>G (p.Phe2391Cys)
17	g.31343092C>A	CA399015691	NF1	c.7128C>A (p.Phe2376Leu) c.1710C>A (p.Phe570Leu) c.1302C>A (p.Phe434Leu) n.3791C>A c.85C>A c.7176C>A (p.Phe2392Leu) c.7146C>A (p.Phe2382Leu) c.7083C>A (p.Phe2361Leu) c.6081C>A (p.Phe2027Leu) c.529C>A c.7282C>A (n.7282C>A) c.289C>A n.388C>A n.560C>A c.7137C>A (p.Phe2379Leu) c.7113C>A (p.Phe2371Leu) c.7173C>A (p.Phe2391Leu)
17	g.31343092C>G	CA399015692	NF1	c.7128C>G (p.Phe2376Leu) c.1710C>G (p.Phe570Leu) c.1302C>G (p.Phe434Leu) n.3791C>G c.85C>G c.7176C>G (p.Phe2392Leu) c.7146C>G (p.Phe2382Leu) c.7083C>G (p.Phe2361Leu) c.6081C>G (p.Phe2027Leu) c.529C>G c.7282C>G (n.7282C>G) c.289C>G n.388C>G n.560C>G c.7137C>G (p.Phe2379Leu) c.7113C>G (p.Phe2371Leu) c.7173C>G (p.Phe2391Leu)	ClinVar dbSNP COSMIC COSMIC COSMIC
17	g.31343092C>T	CA499236842	NF1	c.7128C>T (p.Phe2376=) c.1710C>T (p.Phe570=) c.1302C>T (p.Phe434=) n.3791C>T c.85C>T c.7176C>T (p.Phe2392=) c.7146C>T (p.Phe2382=) c.7083C>T (p.Phe2361=) c.6081C>T (p.Phe2027=) c.529C>T c.7282C>T (n.7282C>T) c.289C>T n.388C>T n.560C>T c.7137C>T (p.Phe2379=) c.7113C>T (p.Phe2371=) c.7173C>T (p.Phe2391=)	ClinVar dbSNP COSMIC COSMIC COSMIC
17	g.31343093A>C	CA399015693	NF1	c.7129A>C (p.Asn2377His) c.1711A>C (p.Asn571His) c.1303A>C (p.Asn435His) n.3792A>C c.86A>C c.7177A>C (p.Asn2393His) c.7147A>C (p.Asn2383His) c.7084A>C (p.Asn2362His) c.6082A>C (p.Asn2028His) c.530A>C c.7283A>C (n.7283A>C) c.290A>C n.389A>C n.561A>C c.7138A>C (p.Asn2380His) c.7114A>C (p.Asn2372His) c.7174A>C (p.Asn2392His)	dbSNP
17	g.31343093A>G	CA399015694	NF1	c.7129A>G (p.Asn2377Asp) c.1711A>G (p.Asn571Asp) c.1303A>G (p.Asn435Asp) n.3792A>G c.86A>G c.7177A>G (p.Asn2393Asp) c.7147A>G (p.Asn2383Asp) c.7084A>G (p.Asn2362Asp) c.6082A>G (p.Asn2028Asp) c.530A>G c.7283A>G (n.7283A>G) c.290A>G n.389A>G n.561A>G c.7138A>G (p.Asn2380Asp) c.7114A>G (p.Asn2372Asp) c.7174A>G (p.Asn2392Asp)
17	g.31343093A>T	CA399015695	NF1	c.7129A>T (p.Asn2377Tyr) c.1711A>T (p.Asn571Tyr) c.1303A>T (p.Asn435Tyr) n.3792A>T c.86A>T c.7177A>T (p.Asn2393Tyr) c.7147A>T (p.Asn2383Tyr) c.7084A>T (p.Asn2362Tyr) c.6082A>T (p.Asn2028Tyr) c.530A>T c.7283A>T (n.7283A>T) c.290A>T n.389A>T n.561A>T c.7138A>T (p.Asn2380Tyr) c.7114A>T (p.Asn2372Tyr) c.7174A>T (p.Asn2392Tyr)	dbSNP
17	g.31343093_31343094insGA	CA658761008	NF1	c.7129_7130insGA (p.Asn2377ArgfsTer14) c.1711_1712insGA (p.Asn571ArgfsTer14) c.1303_1304insGA (p.Asn435ArgfsTer14) n.3792_3793insGA c.86_87insGA c.7177_7178insGA (p.Asn2393ArgfsTer14) c.7147_7148insGA (p.Asn2383ArgfsTer14) c.7084_7085insGA (p.Asn2362ArgfsTer14) c.6082_6083insGA (p.Asn2028ArgfsTer14) c.530_531insGA c.7283_7284insGA (n.7283_7284insGA) c.290_291insGA n.389_390insGA n.561_562insGA c.7138_7139insGA (p.Asn2380ArgfsTer14) c.7114_7115insGA (p.Asn2372ArgfsTer14) c.7174_7175insGA (p.Asn2392ArgfsTer14)
17	g.31343094del	CA2695225449	NF1	c.7130del (p.Asn2377ThrfsTer13) c.1712del (p.Asn571ThrfsTer13) c.1304del (p.Asn435ThrfsTer13) n.3793del c.87del c.7178del (p.Asn2393ThrfsTer13) c.7148del (p.Asn2383ThrfsTer13) c.7085del (p.Asn2362ThrfsTer13) c.6083del (p.Asn2028ThrfsTer13) c.531del c.7284del (n.7284del) c.291del n.390del n.562del c.7139del (p.Asn2380ThrfsTer13) c.7115del (p.Asn2372ThrfsTer13) c.7175del (p.Asn2392ThrfsTer13)	ClinVar
17	g.31343094A=	CA2255605104	NF1	c.7130A= (p.Asn2377=) c.1712A= (p.Asn571=) c.1304A= (p.Asn435=) n.3793A= c.87A= c.7178A= (p.Asn2393=) c.7148A= (p.Asn2383=) c.7085A= (p.Asn2362=) c.6083A= (p.Asn2028=) c.531A= c.7284A= (n.7284A=) c.291A= n.390A= n.562A= c.7139A= (p.Asn2380=) c.7115A= (p.Asn2372=) c.7175A= (p.Asn2392=)
17	g.31343094A>C	CA399015697	NF1	c.7130A>C (p.Asn2377Thr) c.1712A>C (p.Asn571Thr) c.1304A>C (p.Asn435Thr) n.3793A>C c.87A>C c.7178A>C (p.Asn2393Thr) c.7148A>C (p.Asn2383Thr) c.7085A>C (p.Asn2362Thr) c.6083A>C (p.Asn2028Thr) c.531A>C c.7284A>C (n.7284A>C) c.291A>C n.390A>C n.562A>C c.7139A>C (p.Asn2380Thr) c.7115A>C (p.Asn2372Thr) c.7175A>C (p.Asn2392Thr)	ClinVar
17	g.31343094A>G	CA289396242	NF1	c.7130A>G (p.Asn2377Ser) c.1712A>G (p.Asn571Ser) c.1304A>G (p.Asn435Ser) n.3793A>G c.87A>G c.7178A>G (p.Asn2393Ser) c.7148A>G (p.Asn2383Ser) c.7085A>G (p.Asn2362Ser) c.6083A>G (p.Asn2028Ser) c.531A>G c.7284A>G (n.7284A>G) c.291A>G n.390A>G n.562A>G c.7139A>G (p.Asn2380Ser) c.7115A>G (p.Asn2372Ser) c.7175A>G (p.Asn2392Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.31343094A>T	CA399015696	NF1	c.7130A>T (p.Asn2377Ile) c.1712A>T (p.Asn571Ile) c.1304A>T (p.Asn435Ile) n.3793A>T c.87A>T c.7178A>T (p.Asn2393Ile) c.7148A>T (p.Asn2383Ile) c.7085A>T (p.Asn2362Ile) c.6083A>T (p.Asn2028Ile) c.531A>T c.7284A>T (n.7284A>T) c.291A>T n.390A>T n.562A>T c.7139A>T (p.Asn2380Ile) c.7115A>T (p.Asn2372Ile) c.7175A>T (p.Asn2392Ile)	dbSNP
17	g.31343095C>A	CA399015698	NF1	c.7131C>A (p.Asn2377Lys) c.1713C>A (p.Asn571Lys) c.1305C>A (p.Asn435Lys) n.3794C>A c.88C>A c.7179C>A (p.Asn2393Lys) c.7149C>A (p.Asn2383Lys) c.7086C>A (p.Asn2362Lys) c.6084C>A (p.Asn2028Lys) c.532C>A c.7285C>A (n.7285C>A) c.292C>A n.391C>A n.563C>A c.7140C>A (p.Asn2380Lys) c.7116C>A (p.Asn2372Lys) c.7176C>A (p.Asn2392Lys)
17	g.31343095C=	CA2255605105	NF1	c.7131C= (p.Asn2377=) c.1713C= (p.Asn571=) c.1305C= (p.Asn435=) n.3794C= c.88C= c.7179C= (p.Asn2393=) c.7149C= (p.Asn2383=) c.7086C= (p.Asn2362=) c.6084C= (p.Asn2028=) c.532C= c.7285C= (n.7285C=) c.292C= n.391C= n.563C= c.7140C= (p.Asn2380=) c.7116C= (p.Asn2372=) c.7176C= (p.Asn2392=)
17	g.31343095C>G	CA399015699	NF1	c.7131C>G (p.Asn2377Lys) c.1713C>G (p.Asn571Lys) c.1305C>G (p.Asn435Lys) n.3794C>G c.88C>G c.7179C>G (p.Asn2393Lys) c.7149C>G (p.Asn2383Lys) c.7086C>G (p.Asn2362Lys) c.6084C>G (p.Asn2028Lys) c.532C>G c.7285C>G (n.7285C>G) c.292C>G n.391C>G n.563C>G c.7140C>G (p.Asn2380Lys) c.7116C>G (p.Asn2372Lys) c.7176C>G (p.Asn2392Lys)	dbSNP
17	g.31343095C>T	CA499236843	NF1	c.7131C>T (p.Asn2377=) c.1713C>T (p.Asn571=) c.1305C>T (p.Asn435=) n.3794C>T c.88C>T c.7179C>T (p.Asn2393=) c.7149C>T (p.Asn2383=) c.7086C>T (p.Asn2362=) c.6084C>T (p.Asn2028=) c.532C>T c.7285C>T (n.7285C>T) c.292C>T n.391C>T n.563C>T c.7140C>T (p.Asn2380=) c.7116C>T (p.Asn2372=) c.7176C>T (p.Asn2392=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.31343097_31343098dup	CA2697559657	NF1	c.7133_7134dup (p.Asn2379LeufsTer12) c.1715_1716dup (p.Asn573LeufsTer12) c.1307_1308dup (p.Asn437LeufsTer12) n.3796_3797dup c.90_91dup c.7181_7182dup (p.Asn2395LeufsTer12) c.7151_7152dup (p.Asn2385LeufsTer12) c.7088_7089dup (p.Asn2364LeufsTer12) c.6086_6087dup (p.Asn2030LeufsTer12) c.534_535dup c.7287_7288dup (n.7287_7288dup) c.294_295dup n.393_394dup c.7142_7143dup (p.Asn2382LeufsTer12) c.7118_7119dup (p.Asn2374LeufsTer12) c.7178_7179dup (p.Asn2394LeufsTer12)	ClinVar
17	g.31343096T>A	CA399015700	NF1	c.7132T>A (p.Ser2378Thr) c.1714T>A (p.Ser572Thr) c.1306T>A (p.Ser436Thr) n.3795T>A c.89T>A c.7180T>A (p.Ser2394Thr) c.7150T>A (p.Ser2384Thr) c.7087T>A (p.Ser2363Thr) c.6085T>A (p.Ser2029Thr) c.533T>A c.7286T>A (n.7286T>A) c.293T>A n.392T>A n.564T>A c.7141T>A (p.Ser2381Thr) c.7117T>A (p.Ser2373Thr) c.7177T>A (p.Ser2393Thr)	dbSNP
17	g.31343096T>C	CA399015701	NF1	c.7132T>C (p.Ser2378Pro) c.1714T>C (p.Ser572Pro) c.1306T>C (p.Ser436Pro) n.3795T>C c.89T>C c.7180T>C (p.Ser2394Pro) c.7150T>C (p.Ser2384Pro) c.7087T>C (p.Ser2363Pro) c.6085T>C (p.Ser2029Pro) c.533T>C c.7286T>C (n.7286T>C) c.293T>C n.392T>C n.564T>C c.7141T>C (p.Ser2381Pro) c.7117T>C (p.Ser2373Pro) c.7177T>C (p.Ser2393Pro)	ClinVar dbSNP gnomAD v4
17	g.31343096T>G	CA399015702	NF1	c.7132T>G (p.Ser2378Ala) c.1714T>G (p.Ser572Ala) c.1306T>G (p.Ser436Ala) n.3795T>G c.89T>G c.7180T>G (p.Ser2394Ala) c.7150T>G (p.Ser2384Ala) c.7087T>G (p.Ser2363Ala) c.6085T>G (p.Ser2029Ala) c.533T>G c.7286T>G (n.7286T>G) c.293T>G n.392T>G n.564T>G c.7141T>G (p.Ser2381Ala) c.7117T>G (p.Ser2373Ala) c.7177T>G (p.Ser2393Ala)
17	g.31343096T=	CA2255605106	NF1	c.7132T= (p.Ser2378=) c.1714T= (p.Ser572=) c.1306T= (p.Ser436=) n.3795T= c.89T= c.7180T= (p.Ser2394=) c.7150T= (p.Ser2384=) c.7087T= (p.Ser2363=) c.6085T= (p.Ser2029=) c.533T= c.7286T= (n.7286T=) c.293T= n.392T= n.564T= c.7141T= (p.Ser2381=) c.7117T= (p.Ser2373=) c.7177T= (p.Ser2393=)
17	g.31343097C>A	CA399015703	NF1	c.7133C>A (p.Ser2378Tyr) c.1715C>A (p.Ser572Tyr) c.1307C>A (p.Ser436Tyr) n.3796C>A c.90C>A c.7181C>A (p.Ser2394Tyr) c.7151C>A (p.Ser2384Tyr) c.7088C>A (p.Ser2363Tyr) c.6086C>A (p.Ser2029Tyr) c.534C>A c.7287C>A (n.7287C>A) c.294C>A n.393C>A n.565C>A c.7142C>A (p.Ser2381Tyr) c.7118C>A (p.Ser2373Tyr) c.7178C>A (p.Ser2393Tyr)
17	g.31343097C=	CA2255605108	NF1	c.7133C= (p.Ser2378=) c.1715C= (p.Ser572=) c.1307C= (p.Ser436=) n.3796C= c.90C= c.7181C= (p.Ser2394=) c.7151C= (p.Ser2384=) c.7088C= (p.Ser2363=) c.6086C= (p.Ser2029=) c.534C= c.7287C= (n.7287C=) c.294C= n.393C= n.565C= c.7142C= (p.Ser2381=) c.7118C= (p.Ser2373=) c.7178C= (p.Ser2393=)
17	g.31343097C>G	CA399015704	NF1	c.7133C>G (p.Ser2378Cys) c.1715C>G (p.Ser572Cys) c.1307C>G (p.Ser436Cys) n.3796C>G c.90C>G c.7181C>G (p.Ser2394Cys) c.7151C>G (p.Ser2384Cys) c.7088C>G (p.Ser2363Cys) c.6086C>G (p.Ser2029Cys) c.534C>G c.7287C>G (n.7287C>G) c.294C>G n.393C>G n.565C>G c.7142C>G (p.Ser2381Cys) c.7118C>G (p.Ser2373Cys) c.7178C>G (p.Ser2393Cys)
17	g.31343097C>T	CA399015705	NF1	c.7133C>T (p.Ser2378Phe) c.1715C>T (p.Ser572Phe) c.1307C>T (p.Ser436Phe) n.3796C>T c.90C>T c.7181C>T (p.Ser2394Phe) c.7151C>T (p.Ser2384Phe) c.7088C>T (p.Ser2363Phe) c.6086C>T (p.Ser2029Phe) c.534C>T c.7287C>T (n.7287C>T) c.294C>T n.393C>T n.565C>T c.7142C>T (p.Ser2381Phe) c.7118C>T (p.Ser2373Phe) c.7178C>T (p.Ser2393Phe)	gnomAD v4
17	g.31343097_31343103delinsCTAACTT	CA2255605107	NF1	c.7133_7139delinsCTAACTT (p.Ser2378=) c.1715_1721delinsCTAACTT (p.Ser572=) c.1307_1313delinsCTAACTT (p.Ser436=) n.3796_3802delinsCTAACTT c.90_96delinsCTAACTT c.7181_7187delinsCTAACTT (p.Ser2394=) c.7151_7157delinsCTAACTT (p.Ser2384=) c.7088_7094delinsCTAACTT (p.Ser2363=) c.6086_6092delinsCTAACTT (p.Ser2029=) c.534_540delinsCTAACTT c.7287_7293delinsCTAACTT (n.7287_7293delinsCTAACTT) c.294_300delinsCTAACTT n.393_399delinsCTAACTT c.7142_7148delinsCTAACTT (p.Ser2381=) c.7118_7124delinsCTAACTT (p.Ser2373=) c.7178_7184delinsCTAACTT (p.Ser2393=)
17	g.31343097_31343098insA	CA1139665466	NF1	c.7133_7134insA (p.Asn2379Ter) c.1715_1716insA (p.Asn573Ter) c.1307_1308insA (p.Asn437Ter) n.3796_3797insA c.90_91insA c.7181_7182insA (p.Asn2395Ter) c.7151_7152insA (p.Asn2385Ter) c.7088_7089insA (p.Asn2364Ter) c.6086_6087insA (p.Asn2030Ter) c.534_535insA c.7287_7288insA (n.7287_7288insA) c.294_295insA n.393_394insA n.565_566insA c.7142_7143insA (p.Asn2382Ter) c.7118_7119insA (p.Asn2374Ter) c.7178_7179insA (p.Asn2394Ter)	ClinVar dbSNP
17	g.31343097_31343098insG	CA2582342162	NF1	c.7133_7134insG (p.Asn2379Ter) c.1715_1716insG (p.Asn573Ter) c.1307_1308insG (p.Asn437Ter) n.3796_3797insG c.90_91insG c.7181_7182insG (p.Asn2395Ter) c.7151_7152insG (p.Asn2385Ter) c.7088_7089insG (p.Asn2364Ter) c.6086_6087insG (p.Asn2030Ter) c.534_535insG c.7287_7288insG (n.7287_7288insG) c.294_295insG n.393_394insG n.565_566insG c.7142_7143insG (p.Asn2382Ter) c.7118_7119insG (p.Asn2374Ter) c.7178_7179insG (p.Asn2394Ter)	ClinVar
17	g.31343098T>A	CA499236846	NF1	c.7134T>A (p.Ser2378=) c.1716T>A (p.Ser572=) c.1308T>A (p.Ser436=) n.3797T>A c.91T>A c.7182T>A (p.Ser2394=) c.7152T>A (p.Ser2384=) c.7089T>A (p.Ser2363=) c.6087T>A (p.Ser2029=) c.535T>A c.7288T>A (n.7288T>A) c.295T>A n.394T>A n.566T>A c.7143T>A (p.Ser2381=) c.7119T>A (p.Ser2373=) c.7179T>A (p.Ser2393=)	ClinVar dbSNP
17	g.31343098T>C	CA499236844	NF1	c.7134T>C (p.Ser2378=) c.1716T>C (p.Ser572=) c.1308T>C (p.Ser436=) n.3797T>C c.91T>C c.7182T>C (p.Ser2394=) c.7152T>C (p.Ser2384=) c.7089T>C (p.Ser2363=) c.6087T>C (p.Ser2029=) c.535T>C c.7288T>C (n.7288T>C) c.295T>C n.394T>C n.566T>C c.7143T>C (p.Ser2381=) c.7119T>C (p.Ser2373=) c.7179T>C (p.Ser2393=)
17	g.31343098T>G	CA499236845	NF1	c.7134T>G (p.Ser2378=) c.1716T>G (p.Ser572=) c.1308T>G (p.Ser436=) n.3797T>G c.91T>G c.7182T>G (p.Ser2394=) c.7152T>G (p.Ser2384=) c.7089T>G (p.Ser2363=) c.6087T>G (p.Ser2029=) c.535T>G c.7288T>G (n.7288T>G) c.295T>G n.394T>G n.566T>G c.7143T>G (p.Ser2381=) c.7119T>G (p.Ser2373=) c.7179T>G (p.Ser2393=)
17	g.31343098_31343099insTT	CA915949806	NF1	c.7134_7135insTT (p.Asn2379LeufsTer12) c.1716_1717insTT (p.Asn573LeufsTer12) c.1308_1309insTT (p.Asn437LeufsTer12) n.3797_3798insTT c.91_92insTT c.7182_7183insTT (p.Asn2395LeufsTer12) c.7152_7153insTT (p.Asn2385LeufsTer12) c.7089_7090insTT (p.Asn2364LeufsTer12) c.6087_6088insTT (p.Asn2030LeufsTer12) c.535_536insTT c.7288_7289insTT (n.7288_7289insTT) c.295_296insTT n.394_395insTT c.7143_7144insTT (p.Asn2382LeufsTer12) c.7119_7120insTT (p.Asn2374LeufsTer12) c.7179_7180insTT (p.Asn2394LeufsTer12)	ClinVar dbSNP
17	g.31343098dup	CA658684021	NF1	c.7134dup (p.Asn2379Ter) c.1716dup (p.Asn573Ter) c.1308dup (p.Asn437Ter) n.3797dup c.91dup c.7182dup (p.Asn2395Ter) c.7152dup (p.Asn2385Ter) c.7089dup (p.Asn2364Ter) c.6087dup (p.Asn2030Ter) c.535dup c.7288dup (n.7288dup) c.295dup n.394dup c.7143dup (p.Asn2382Ter) c.7119dup (p.Asn2374Ter) c.7179dup (p.Asn2394Ter)	ClinVar dbSNP
17	g.31343105_31343110del	CA350561	NF1	c.7141_7146del (p.Asn2381_Phe2382del) c.1723_1728del (p.Asn575_Phe576del) c.1315_1320del (p.Asn439_Phe440del) n.3804_3809del c.98_103del c.7189_7194del (p.Asn2397_Phe2398del) c.7159_7164del (p.Asn2387_Phe2388del) c.7096_7101del (p.Asn2366_Phe2367del) c.6094_6099del (p.Asn2032_Phe2033del) c.542_547del c.7295_7300del (n.7295_7300del) c.302_307del n.401_406del c.7150_7155del (p.Asn2384_Phe2385del) c.7126_7131del (p.Asn2376_Phe2377del) c.7186_7191del (p.Asn2396_Phe2397del)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17	g.31343099A=	CA2255605109	NF1	c.7135A= (p.Asn2379=) c.1717A= (p.Asn573=) c.1309A= (p.Asn437=) n.3798A= c.92A= c.7183A= (p.Asn2395=) c.7153A= (p.Asn2385=) c.7090A= (p.Asn2364=) c.6088A= (p.Asn2030=) c.536A= c.7289A= (n.7289A=) c.296A= n.395A= c.7144A= (p.Asn2382=) c.7120A= (p.Asn2374=) c.7180A= (p.Asn2394=)
17	g.31343099A>C	CA399015706	NF1	c.7135A>C (p.Asn2379His) c.1717A>C (p.Asn573His) c.1309A>C (p.Asn437His) n.3798A>C c.92A>C c.7183A>C (p.Asn2395His) c.7153A>C (p.Asn2385His) c.7090A>C (p.Asn2364His) c.6088A>C (p.Asn2030His) c.536A>C c.7289A>C (n.7289A>C) c.296A>C n.395A>C c.7144A>C (p.Asn2382His) c.7120A>C (p.Asn2374His) c.7180A>C (p.Asn2394His)	ClinVar
17	g.31343099A>G	CA399015707	NF1	c.7135A>G (p.Asn2379Asp) c.1717A>G (p.Asn573Asp) c.1309A>G (p.Asn437Asp) n.3798A>G c.92A>G c.7183A>G (p.Asn2395Asp) c.7153A>G (p.Asn2385Asp) c.7090A>G (p.Asn2364Asp) c.6088A>G (p.Asn2030Asp) c.536A>G c.7289A>G (n.7289A>G) c.296A>G n.395A>G c.7144A>G (p.Asn2382Asp) c.7120A>G (p.Asn2374Asp) c.7180A>G (p.Asn2394Asp)	ClinVar dbSNP
17	g.31343099A>T	CA399015708	NF1	c.7135A>T (p.Asn2379Tyr) c.1717A>T (p.Asn573Tyr) c.1309A>T (p.Asn437Tyr) n.3798A>T c.92A>T c.7183A>T (p.Asn2395Tyr) c.7153A>T (p.Asn2385Tyr) c.7090A>T (p.Asn2364Tyr) c.6088A>T (p.Asn2030Tyr) c.536A>T c.7289A>T (n.7289A>T) c.296A>T n.395A>T c.7144A>T (p.Asn2382Tyr) c.7120A>T (p.Asn2374Tyr) c.7180A>T (p.Asn2394Tyr)
17	g.31343100A>C	CA399015711	NF1	c.7136A>C (p.Asn2379Thr) c.1718A>C (p.Asn573Thr) c.1310A>C (p.Asn437Thr) n.3799A>C c.93A>C c.7184A>C (p.Asn2395Thr) c.7154A>C (p.Asn2385Thr) c.7091A>C (p.Asn2364Thr) c.6089A>C (p.Asn2030Thr) c.537A>C c.7290A>C (n.7290A>C) c.297A>C n.396A>C c.7145A>C (p.Asn2382Thr) c.7121A>C (p.Asn2374Thr) c.7181A>C (p.Asn2394Thr)
17	g.31343100A>G	CA399015709	NF1	c.7136A>G (p.Asn2379Ser) c.1718A>G (p.Asn573Ser) c.1310A>G (p.Asn437Ser) n.3799A>G c.93A>G c.7184A>G (p.Asn2395Ser) c.7154A>G (p.Asn2385Ser) c.7091A>G (p.Asn2364Ser) c.6089A>G (p.Asn2030Ser) c.537A>G c.7290A>G (n.7290A>G) c.297A>G n.396A>G c.7145A>G (p.Asn2382Ser) c.7121A>G (p.Asn2374Ser) c.7181A>G (p.Asn2394Ser)
17	g.31343100A>T	CA399015710	NF1	c.7136A>T (p.Asn2379Ile) c.1718A>T (p.Asn573Ile) c.1310A>T (p.Asn437Ile) n.3799A>T c.93A>T c.7184A>T (p.Asn2395Ile) c.7154A>T (p.Asn2385Ile) c.7091A>T (p.Asn2364Ile) c.6089A>T (p.Asn2030Ile) c.537A>T c.7290A>T (n.7290A>T) c.297A>T n.396A>T c.7145A>T (p.Asn2382Ile) c.7121A>T (p.Asn2374Ile) c.7181A>T (p.Asn2394Ile)	dbSNP gnomAD v4
17	g.31343101C>A	CA399015712	NF1	c.7137C>A (p.Asn2379Lys) c.1719C>A (p.Asn573Lys) c.1311C>A (p.Asn437Lys) n.3800C>A c.94C>A c.7185C>A (p.Asn2395Lys) c.7155C>A (p.Asn2385Lys) c.7092C>A (p.Asn2364Lys) c.6090C>A (p.Asn2030Lys) c.538C>A c.7291C>A (n.7291C>A) c.298C>A n.397C>A c.7146C>A (p.Asn2382Lys) c.7122C>A (p.Asn2374Lys) c.7182C>A (p.Asn2394Lys)
17	g.31343101C>G	CA399015713	NF1	c.7137C>G (p.Asn2379Lys) c.1719C>G (p.Asn573Lys) c.1311C>G (p.Asn437Lys) n.3800C>G c.94C>G c.7185C>G (p.Asn2395Lys) c.7155C>G (p.Asn2385Lys) c.7092C>G (p.Asn2364Lys) c.6090C>G (p.Asn2030Lys) c.538C>G c.7291C>G (n.7291C>G) c.298C>G n.397C>G c.7146C>G (p.Asn2382Lys) c.7122C>G (p.Asn2374Lys) c.7182C>G (p.Asn2394Lys)
17	g.31343101C>T	CA499236847	NF1	c.7137C>T (p.Asn2379=) c.1719C>T (p.Asn573=) c.1311C>T (p.Asn437=) n.3800C>T c.94C>T c.7185C>T (p.Asn2395=) c.7155C>T (p.Asn2385=) c.7092C>T (p.Asn2364=) c.6090C>T (p.Asn2030=) c.538C>T c.7291C>T (n.7291C>T) c.298C>T n.397C>T c.7146C>T (p.Asn2382=) c.7122C>T (p.Asn2374=) c.7182C>T (p.Asn2394=)	ClinVar dbSNP
17	g.31343101_31343102delinsCT	CA2255605110	NF1	c.7137_7138delinsCT (p.Asn2379=) c.1719_1720delinsCT (p.Asn573=) c.1311_1312delinsCT (p.Asn437=) n.3800_3801delinsCT c.94_95delinsCT c.7185_7186delinsCT (p.Asn2395=) c.7155_7156delinsCT (p.Asn2385=) c.7092_7093delinsCT (p.Asn2364=) c.6090_6091delinsCT (p.Asn2030=) c.538_539delinsCT c.7291_7292delinsCT (n.7291_7292delinsCT) c.298_299delinsCT n.397_398delinsCT c.7146_7147delinsCT (p.Asn2382=) c.7122_7123delinsCT (p.Asn2374=) c.7182_7183delinsCT (p.Asn2394=)
17	g.31343101_31343104dup	CA2739265561	NF1	c.7137_7140dup (p.Asn2381LeufsTer2) c.1719_1722dup (p.Asn575LeufsTer2) c.1311_1314dup (p.Asn439LeufsTer2) n.3800_3803dup c.94_97dup c.7185_7188dup (p.Asn2397LeufsTer2) c.7155_7158dup (p.Asn2387LeufsTer2) c.7092_7095dup (p.Asn2366LeufsTer2) c.6090_6093dup (p.Asn2032LeufsTer2) c.538_541dup c.7291_7294dup (n.7291_7294dup) c.298_301dup n.397_400dup c.7146_7149dup (p.Asn2384LeufsTer2) c.7122_7125dup (p.Asn2376LeufsTer2) c.7182_7185dup (p.Asn2396LeufsTer2)	ClinVar
17	g.31343102T>A	CA399015716	NF1	c.7138T>A (p.Phe2380Ile) c.1720T>A (p.Phe574Ile) c.1312T>A (p.Phe438Ile) n.3801T>A c.95T>A c.7186T>A (p.Phe2396Ile) c.7156T>A (p.Phe2386Ile) c.7093T>A (p.Phe2365Ile) c.6091T>A (p.Phe2031Ile) c.539T>A c.7292T>A (n.7292T>A) c.299T>A n.398T>A c.7147T>A (p.Phe2383Ile) c.7123T>A (p.Phe2375Ile) c.7183T>A (p.Phe2395Ile)	ClinVar dbSNP
17	g.31343102T>C	CA399015714	NF1	c.7138T>C (p.Phe2380Leu) c.1720T>C (p.Phe574Leu) c.1312T>C (p.Phe438Leu) n.3801T>C c.95T>C c.7186T>C (p.Phe2396Leu) c.7156T>C (p.Phe2386Leu) c.7093T>C (p.Phe2365Leu) c.6091T>C (p.Phe2031Leu) c.539T>C c.7292T>C (n.7292T>C) c.299T>C n.398T>C c.7147T>C (p.Phe2383Leu) c.7123T>C (p.Phe2375Leu) c.7183T>C (p.Phe2395Leu)
17	g.31343102T>G	CA399015715	NF1	c.7138T>G (p.Phe2380Val) c.1720T>G (p.Phe574Val) c.1312T>G (p.Phe438Val) n.3801T>G c.95T>G c.7186T>G (p.Phe2396Val) c.7156T>G (p.Phe2386Val) c.7093T>G (p.Phe2365Val) c.6091T>G (p.Phe2031Val) c.539T>G c.7292T>G (n.7292T>G) c.299T>G n.398T>G c.7147T>G (p.Phe2383Val) c.7123T>G (p.Phe2375Val) c.7183T>G (p.Phe2395Val)	ClinVar dbSNP
17	g.31343102T=	CA2255605111	NF1	c.7138T= (p.Phe2380=) c.1720T= (p.Phe574=) c.1312T= (p.Phe438=) n.3801T= c.95T= c.7186T= (p.Phe2396=) c.7156T= (p.Phe2386=) c.7093T= (p.Phe2365=) c.6091T= (p.Phe2031=) c.539T= c.7292T= (n.7292T=) c.299T= n.398T= c.7147T= (p.Phe2383=) c.7123T= (p.Phe2375=) c.7183T= (p.Phe2395=)
17	g.31343104dup	CA658761009	NF1	c.7140dup (p.Asn2381Ter) c.1722dup (p.Asn575Ter) c.1314dup (p.Asn439Ter) n.3803dup c.97dup c.7188dup (p.Asn2397Ter) c.7158dup (p.Asn2387Ter) c.7095dup (p.Asn2366Ter) c.6093dup (p.Asn2032Ter) c.541dup c.7294dup (n.7294dup) c.301dup n.400dup c.7149dup (p.Asn2384Ter) c.7125dup (p.Asn2376Ter) c.7185dup (p.Asn2396Ter)	ClinVar dbSNP
17	g.31343103_31343104dup	CA916080696	NF1	c.7139_7140dup (p.Asn2381LeufsTer10) c.1721_1722dup (p.Asn575LeufsTer10) c.1313_1314dup (p.Asn439LeufsTer10) n.3802_3803dup c.96_97dup c.7187_7188dup (p.Asn2397LeufsTer10) c.7157_7158dup (p.Asn2387LeufsTer10) c.7094_7095dup (p.Asn2366LeufsTer10) c.6092_6093dup (p.Asn2032LeufsTer10) c.540_541dup c.7293_7294dup (n.7293_7294dup) c.300_301dup n.399_400dup c.7148_7149dup (p.Asn2384LeufsTer10) c.7124_7125dup (p.Asn2376LeufsTer10) c.7184_7185dup (p.Asn2396LeufsTer10)	ClinVar dbSNP
17	g.31343104del	CA915949807	NF1	c.7140del (p.Phe2380LeufsTer10) c.1722del (p.Phe574LeufsTer10) c.1314del (p.Phe438LeufsTer10) n.3803del c.97del c.7188del (p.Phe2396LeufsTer10) c.7158del (p.Phe2386LeufsTer10) c.7095del (p.Phe2365LeufsTer10) c.6093del (p.Phe2031LeufsTer10) c.541del c.7294del (n.7294del) c.301del n.400del c.7149del (p.Phe2383LeufsTer10) c.7125del (p.Phe2375LeufsTer10) c.7185del (p.Phe2395LeufsTer10)	ClinVar dbSNP
17	g.31343103T>A	CA399015717	NF1	c.7139T>A (p.Phe2380Tyr) c.1721T>A (p.Phe574Tyr) c.1313T>A (p.Phe438Tyr) n.3802T>A c.96T>A c.7187T>A (p.Phe2396Tyr) c.7157T>A (p.Phe2386Tyr) c.7094T>A (p.Phe2365Tyr) c.6092T>A (p.Phe2031Tyr) c.540T>A c.7293T>A (n.7293T>A) c.300T>A n.399T>A c.7148T>A (p.Phe2383Tyr) c.7124T>A (p.Phe2375Tyr) c.7184T>A (p.Phe2395Tyr)
17	g.31343103T>C	CA399015718	NF1	c.7139T>C (p.Phe2380Ser) c.1721T>C (p.Phe574Ser) c.1313T>C (p.Phe438Ser) n.3802T>C c.96T>C c.7187T>C (p.Phe2396Ser) c.7157T>C (p.Phe2386Ser) c.7094T>C (p.Phe2365Ser) c.6092T>C (p.Phe2031Ser) c.540T>C c.7293T>C (n.7293T>C) c.300T>C n.399T>C c.7148T>C (p.Phe2383Ser) c.7124T>C (p.Phe2375Ser) c.7184T>C (p.Phe2395Ser)	ClinVar dbSNP
17	g.31343103T>G	CA399015719	NF1	c.7139T>G (p.Phe2380Cys) c.1721T>G (p.Phe574Cys) c.1313T>G (p.Phe438Cys) n.3802T>G c.96T>G c.7187T>G (p.Phe2396Cys) c.7157T>G (p.Phe2386Cys) c.7094T>G (p.Phe2365Cys) c.6092T>G (p.Phe2031Cys) c.540T>G c.7293T>G (n.7293T>G) c.300T>G n.399T>G c.7148T>G (p.Phe2383Cys) c.7124T>G (p.Phe2375Cys) c.7184T>G (p.Phe2395Cys)
17	g.31343103T=	CA2255605112	NF1	c.7139T= (p.Phe2380=) c.1721T= (p.Phe574=) c.1313T= (p.Phe438=) n.3802T= c.96T= c.7187T= (p.Phe2396=) c.7157T= (p.Phe2386=) c.7094T= (p.Phe2365=) c.6092T= (p.Phe2031=) c.540T= c.7293T= (n.7293T=) c.300T= n.399T= c.7148T= (p.Phe2383=) c.7124T= (p.Phe2375=) c.7184T= (p.Phe2395=)
17	g.31343104T>A	CA399015720	NF1	c.7140T>A (p.Phe2380Leu) c.1722T>A (p.Phe574Leu) c.1314T>A (p.Phe438Leu) n.3803T>A c.97T>A c.7188T>A (p.Phe2396Leu) c.7158T>A (p.Phe2386Leu) c.7095T>A (p.Phe2365Leu) c.6093T>A (p.Phe2031Leu) c.541T>A c.7294T>A (n.7294T>A) c.301T>A n.400T>A c.7149T>A (p.Phe2383Leu) c.7125T>A (p.Phe2375Leu) c.7185T>A (p.Phe2395Leu)	dbSNP
17	g.31343104T>C	CA10580399	NF1	c.7140T>C (p.Phe2380=) c.1722T>C (p.Phe574=) c.1314T>C (p.Phe438=) n.3803T>C c.97T>C c.7188T>C (p.Phe2396=) c.7158T>C (p.Phe2386=) c.7095T>C (p.Phe2365=) c.6093T>C (p.Phe2031=) c.541T>C c.7294T>C (n.7294T>C) c.301T>C n.400T>C c.7149T>C (p.Phe2383=) c.7125T>C (p.Phe2375=) c.7185T>C (p.Phe2395=)	ClinVar dbSNP gnomAD v4
17	g.31343104T>G	CA399015721	NF1	c.7140T>G (p.Phe2380Leu) c.1722T>G (p.Phe574Leu) c.1314T>G (p.Phe438Leu) n.3803T>G c.97T>G c.7188T>G (p.Phe2396Leu) c.7158T>G (p.Phe2386Leu) c.7095T>G (p.Phe2365Leu) c.6093T>G (p.Phe2031Leu) c.541T>G c.7294T>G (n.7294T>G) c.301T>G n.400T>G c.7149T>G (p.Phe2383Leu) c.7125T>G (p.Phe2375Leu) c.7185T>G (p.Phe2395Leu)
17	g.31343104T=	CA2255605113	NF1	c.7140T= (p.Phe2380=) c.1722T= (p.Phe574=) c.1314T= (p.Phe438=) n.3803T= c.97T= c.7188T= (p.Phe2396=) c.7158T= (p.Phe2386=) c.7095T= (p.Phe2365=) c.6093T= (p.Phe2031=) c.541T= c.7294T= (n.7294T=) c.301T= n.400T= c.7149T= (p.Phe2383=) c.7125T= (p.Phe2375=) c.7185T= (p.Phe2395=)
17	g.31343105A=	CA2255605114	NF1	c.7141A= (p.Asn2381=) c.1723A= (p.Asn575=) c.1315A= (p.Asn439=) n.3804A= c.98A= c.7189A= (p.Asn2397=) c.7159A= (p.Asn2387=) c.7096A= (p.Asn2366=) c.6094A= (p.Asn2032=) c.542A= c.7295A= (n.7295A=) c.302A= n.401A= c.7150A= (p.Asn2384=) c.7126A= (p.Asn2376=) c.7186A= (p.Asn2396=)
17	g.31343105A>C	CA8487504	NF1	c.7141A>C (p.Asn2381His) c.1723A>C (p.Asn575His) c.1315A>C (p.Asn439His) n.3804A>C c.98A>C c.7189A>C (p.Asn2397His) c.7159A>C (p.Asn2387His) c.7096A>C (p.Asn2366His) c.6094A>C (p.Asn2032His) c.542A>C c.7295A>C (n.7295A>C) c.302A>C n.401A>C c.7150A>C (p.Asn2384His) c.7126A>C (p.Asn2376His) c.7186A>C (p.Asn2396His)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.31343105A>G	CA399015722	NF1	c.7141A>G (p.Asn2381Asp) c.1723A>G (p.Asn575Asp) c.1315A>G (p.Asn439Asp) n.3804A>G c.98A>G c.7189A>G (p.Asn2397Asp) c.7159A>G (p.Asn2387Asp) c.7096A>G (p.Asn2366Asp) c.6094A>G (p.Asn2032Asp) c.542A>G c.7295A>G (n.7295A>G) c.302A>G n.401A>G c.7150A>G (p.Asn2384Asp) c.7126A>G (p.Asn2376Asp) c.7186A>G (p.Asn2396Asp)
17	g.31343105A>T	CA399015723	NF1	c.7141A>T (p.Asn2381Tyr) c.1723A>T (p.Asn575Tyr) c.1315A>T (p.Asn439Tyr) n.3804A>T c.98A>T c.7189A>T (p.Asn2397Tyr) c.7159A>T (p.Asn2387Tyr) c.7096A>T (p.Asn2366Tyr) c.6094A>T (p.Asn2032Tyr) c.542A>T c.7295A>T (n.7295A>T) c.302A>T n.401A>T c.7150A>T (p.Asn2384Tyr) c.7126A>T (p.Asn2376Tyr) c.7186A>T (p.Asn2396Tyr)	ClinVar dbSNP
17	g.31343106dup	CA2695225450	NF1	c.7142dup (p.Asn2381LysfsTer?) c.1724dup (p.Asn575LysfsTer?) c.1316dup (p.Asn439LysfsTer?) n.3805dup c.99dup c.7190dup (p.Asn2397LysfsTer?) c.7160dup (p.Asn2387LysfsTer?) c.7097dup (p.Asn2366LysfsTer?) c.6095dup (p.Asn2032LysfsTer?) c.543dup c.7296dup (n.7296dup) c.303dup n.402dup c.7151dup (p.Asn2384LysfsTer?) c.7127dup (p.Asn2376LysfsTer?) c.7187dup (p.Asn2396LysfsTer?)
17	g.31343106del	CA2580093263	NF1	c.7142del (p.Asn2381ThrfsTer9) c.1724del (p.Asn575ThrfsTer9) c.1316del (p.Asn439ThrfsTer9) n.3805del c.99del c.7190del (p.Asn2397ThrfsTer9) c.7160del (p.Asn2387ThrfsTer9) c.7097del (p.Asn2366ThrfsTer9) c.6095del (p.Asn2032ThrfsTer9) c.543del c.7296del (n.7296del) c.303del n.402del c.7151del (p.Asn2384ThrfsTer9) c.7127del (p.Asn2376ThrfsTer9) c.7187del (p.Asn2396ThrfsTer9)	ClinVar
17	g.31343106A=	CA2255605115	NF1	c.7142A= (p.Asn2381=) c.1724A= (p.Asn575=) c.1316A= (p.Asn439=) n.3805A= c.99A= c.7190A= (p.Asn2397=) c.7160A= (p.Asn2387=) c.7097A= (p.Asn2366=) c.6095A= (p.Asn2032=) c.543A= c.7296A= (n.7296A=) c.303A= n.402A= c.7151A= (p.Asn2384=) c.7127A= (p.Asn2376=) c.7187A= (p.Asn2396=)
17	g.31343106A>C	CA399015726	NF1	c.7142A>C (p.Asn2381Thr) c.1724A>C (p.Asn575Thr) c.1316A>C (p.Asn439Thr) n.3805A>C c.99A>C c.7190A>C (p.Asn2397Thr) c.7160A>C (p.Asn2387Thr) c.7097A>C (p.Asn2366Thr) c.6095A>C (p.Asn2032Thr) c.543A>C c.7296A>C (n.7296A>C) c.303A>C n.402A>C c.7151A>C (p.Asn2384Thr) c.7127A>C (p.Asn2376Thr) c.7187A>C (p.Asn2396Thr)	ClinVar dbSNP
17	g.31343106A>G	CA399015724	NF1	c.7142A>G (p.Asn2381Ser) c.1724A>G (p.Asn575Ser) c.1316A>G (p.Asn439Ser) n.3805A>G c.99A>G c.7190A>G (p.Asn2397Ser) c.7160A>G (p.Asn2387Ser) c.7097A>G (p.Asn2366Ser) c.6095A>G (p.Asn2032Ser) c.543A>G c.7296A>G (n.7296A>G) c.303A>G n.402A>G c.7151A>G (p.Asn2384Ser) c.7127A>G (p.Asn2376Ser) c.7187A>G (p.Asn2396Ser)	ClinVar
17	g.31343106A>T	CA399015725	NF1	c.7142A>T (p.Asn2381Ile) c.1724A>T (p.Asn575Ile) c.1316A>T (p.Asn439Ile) n.3805A>T c.99A>T c.7190A>T (p.Asn2397Ile) c.7160A>T (p.Asn2387Ile) c.7097A>T (p.Asn2366Ile) c.6095A>T (p.Asn2032Ile) c.543A>T c.7296A>T (n.7296A>T) c.303A>T n.402A>T c.7151A>T (p.Asn2384Ile) c.7127A>T (p.Asn2376Ile) c.7187A>T (p.Asn2396Ile)	dbSNP
17	g.31343107C>A	CA399015727	NF1	c.7143C>A (p.Asn2381Lys) c.1725C>A (p.Asn575Lys) c.1317C>A (p.Asn439Lys) n.3806C>A c.100C>A c.7191C>A (p.Asn2397Lys) c.7161C>A (p.Asn2387Lys) c.7098C>A (p.Asn2366Lys) c.6096C>A (p.Asn2032Lys) c.544C>A c.7297C>A (n.7297C>A) c.304C>A n.403C>A c.7152C>A (p.Asn2384Lys) c.7128C>A (p.Asn2376Lys) c.7188C>A (p.Asn2396Lys)
17	g.31343107C=	CA2255605116	NF1	c.7143C= (p.Asn2381=) c.1725C= (p.Asn575=) c.1317C= (p.Asn439=) n.3806C= c.100C= c.7191C= (p.Asn2397=) c.7161C= (p.Asn2387=) c.7098C= (p.Asn2366=) c.6096C= (p.Asn2032=) c.544C= c.7297C= (n.7297C=) c.304C= n.403C= c.7152C= (p.Asn2384=) c.7128C= (p.Asn2376=) c.7188C= (p.Asn2396=)
17	g.31343107C>G	CA399015728	NF1	c.7143C>G (p.Asn2381Lys) c.1725C>G (p.Asn575Lys) c.1317C>G (p.Asn439Lys) n.3806C>G c.100C>G c.7191C>G (p.Asn2397Lys) c.7161C>G (p.Asn2387Lys) c.7098C>G (p.Asn2366Lys) c.6096C>G (p.Asn2032Lys) c.544C>G c.7297C>G (n.7297C>G) c.304C>G n.403C>G c.7152C>G (p.Asn2384Lys) c.7128C>G (p.Asn2376Lys) c.7188C>G (p.Asn2396Lys)	ClinVar dbSNP
17	g.31343107C>T	CA499236848	NF1	c.7143C>T (p.Asn2381=) c.1725C>T (p.Asn575=) c.1317C>T (p.Asn439=) n.3806C>T c.100C>T c.7191C>T (p.Asn2397=) c.7161C>T (p.Asn2387=) c.7098C>T (p.Asn2366=) c.6096C>T (p.Asn2032=) c.544C>T c.7297C>T (n.7297C>T) c.304C>T n.403C>T c.7152C>T (p.Asn2384=) c.7128C>T (p.Asn2376=) c.7188C>T (p.Asn2396=)	dbSNP
17	g.31343108T>A	CA399015729	NF1	c.7144T>A (p.Phe2382Ile) c.1726T>A (p.Phe576Ile) c.1318T>A (p.Phe440Ile) n.3807T>A c.101T>A c.7192T>A (p.Phe2398Ile) c.7162T>A (p.Phe2388Ile) c.7099T>A (p.Phe2367Ile) c.6097T>A (p.Phe2033Ile) c.545T>A c.7298T>A (n.7298T>A) c.305T>A n.404T>A c.7153T>A (p.Phe2385Ile) c.7129T>A (p.Phe2377Ile) c.7189T>A (p.Phe2397Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.31343108T>C	CA399015730	NF1	c.7144T>C (p.Phe2382Leu) c.1726T>C (p.Phe576Leu) c.1318T>C (p.Phe440Leu) n.3807T>C c.101T>C c.7192T>C (p.Phe2398Leu) c.7162T>C (p.Phe2388Leu) c.7099T>C (p.Phe2367Leu) c.6097T>C (p.Phe2033Leu) c.545T>C c.7298T>C (n.7298T>C) c.305T>C n.404T>C c.7153T>C (p.Phe2385Leu) c.7129T>C (p.Phe2377Leu) c.7189T>C (p.Phe2397Leu)	ClinVar dbSNP
17	g.31343108T>G	CA399015731	NF1	c.7144T>G (p.Phe2382Val) c.1726T>G (p.Phe576Val) c.1318T>G (p.Phe440Val) n.3807T>G c.101T>G c.7192T>G (p.Phe2398Val) c.7162T>G (p.Phe2388Val) c.7099T>G (p.Phe2367Val) c.6097T>G (p.Phe2033Val) c.545T>G c.7298T>G (n.7298T>G) c.305T>G n.404T>G c.7153T>G (p.Phe2385Val) c.7129T>G (p.Phe2377Val) c.7189T>G (p.Phe2397Val)	ClinVar
17	g.31343108T=	CA2255605117	NF1	c.7144T= (p.Phe2382=) c.1726T= (p.Phe576=) c.1318T= (p.Phe440=) n.3807T= c.101T= c.7192T= (p.Phe2398=) c.7162T= (p.Phe2388=) c.7099T= (p.Phe2367=) c.6097T= (p.Phe2033=) c.545T= c.7298T= (n.7298T=) c.305T= n.404T= c.7153T= (p.Phe2385=) c.7129T= (p.Phe2377=) c.7189T= (p.Phe2397=)
17	g.31343109_31343110del	CA2580093266	NF1	c.7145_7146del (p.Phe2382CysfsTer?) c.1727_1728del (p.Phe576CysfsTer?) c.1319_1320del (p.Phe440CysfsTer?) n.3808_3809del c.102_103del c.7193_7194del (p.Phe2398CysfsTer?) c.7163_7164del (p.Phe2388CysfsTer?) c.7100_7101del (p.Phe2367CysfsTer?) c.6098_6099del (p.Phe2033CysfsTer?) c.546_547del c.7299_7300del (n.7299_7300del) c.306_307del n.405_406del c.7154_7155del (p.Phe2385CysfsTer?) c.7130_7131del (p.Phe2377CysfsTer?) c.7190_7191del (p.Phe2397CysfsTer?)	ClinVar
17	g.31343109T>A	CA399015732	NF1	c.7145T>A (p.Phe2382Tyr) c.1727T>A (p.Phe576Tyr) c.1319T>A (p.Phe440Tyr) n.3808T>A c.102T>A c.7193T>A (p.Phe2398Tyr) c.7163T>A (p.Phe2388Tyr) c.7100T>A (p.Phe2367Tyr) c.6098T>A (p.Phe2033Tyr) c.546T>A c.7299T>A (n.7299T>A) c.306T>A n.405T>A c.7154T>A (p.Phe2385Tyr) c.7130T>A (p.Phe2377Tyr) c.7190T>A (p.Phe2397Tyr)
17	g.31343109T>C	CA399015733	NF1	c.7145T>C (p.Phe2382Ser) c.1727T>C (p.Phe576Ser) c.1319T>C (p.Phe440Ser) n.3808T>C c.102T>C c.7193T>C (p.Phe2398Ser) c.7163T>C (p.Phe2388Ser) c.7100T>C (p.Phe2367Ser) c.6098T>C (p.Phe2033Ser) c.546T>C c.7299T>C (n.7299T>C) c.306T>C n.405T>C c.7154T>C (p.Phe2385Ser) c.7130T>C (p.Phe2377Ser) c.7190T>C (p.Phe2397Ser)
17	g.31343109T>G	CA399015734	NF1	c.7145T>G (p.Phe2382Cys) c.1727T>G (p.Phe576Cys) c.1319T>G (p.Phe440Cys) n.3808T>G c.102T>G c.7193T>G (p.Phe2398Cys) c.7163T>G (p.Phe2388Cys) c.7100T>G (p.Phe2367Cys) c.6098T>G (p.Phe2033Cys) c.546T>G c.7299T>G (n.7299T>G) c.306T>G n.405T>G c.7154T>G (p.Phe2385Cys) c.7130T>G (p.Phe2377Cys) c.7190T>G (p.Phe2397Cys)
17	g.31343110T>A	CA399015735	NF1	c.7146T>A (p.Phe2382Leu) c.1728T>A (p.Phe576Leu) c.1320T>A (p.Phe440Leu) n.3809T>A c.103T>A c.7194T>A (p.Phe2398Leu) c.7164T>A (p.Phe2388Leu) c.7101T>A (p.Phe2367Leu) c.6099T>A (p.Phe2033Leu) c.547T>A c.7300T>A (n.7300T>A) c.307T>A n.406T>A c.7155T>A (p.Phe2385Leu) c.7131T>A (p.Phe2377Leu) c.7191T>A (p.Phe2397Leu)	dbSNP
17	g.31343110T>C	CA196486	NF1	c.7146T>C (p.Phe2382=) c.1728T>C (p.Phe576=) c.1320T>C (p.Phe440=) n.3809T>C c.103T>C c.7194T>C (p.Phe2398=) c.7164T>C (p.Phe2388=) c.7101T>C (p.Phe2367=) c.6099T>C (p.Phe2033=) c.547T>C c.7300T>C (n.7300T>C) c.307T>C n.406T>C c.7155T>C (p.Phe2385=) c.7131T>C (p.Phe2377=) c.7191T>C (p.Phe2397=)	ClinVar dbSNP gnomAD v4
17	g.31343110T>G	CA399015736	NF1	c.7146T>G (p.Phe2382Leu) c.1728T>G (p.Phe576Leu) c.1320T>G (p.Phe440Leu) n.3809T>G c.103T>G c.7194T>G (p.Phe2398Leu) c.7164T>G (p.Phe2388Leu) c.7101T>G (p.Phe2367Leu) c.6099T>G (p.Phe2033Leu) c.547T>G c.7300T>G (n.7300T>G) c.307T>G n.406T>G c.7155T>G (p.Phe2385Leu) c.7131T>G (p.Phe2377Leu) c.7191T>G (p.Phe2397Leu)
17	g.31343110T=	CA2255605118	NF1	c.7146T= (p.Phe2382=) c.1728T= (p.Phe576=) c.1320T= (p.Phe440=) n.3809T= c.103T= c.7194T= (p.Phe2398=) c.7164T= (p.Phe2388=) c.7101T= (p.Phe2367=) c.6099T= (p.Phe2033=) c.547T= c.7300T= (n.7300T=) c.307T= n.406T= c.7155T= (p.Phe2385=) c.7131T= (p.Phe2377=) c.7191T= (p.Phe2397=)
17	g.31343111G>A	CA399015739	NF1	c.7147G>A (p.Ala2383Thr) c.1729G>A (p.Ala577Thr) c.1321G>A (p.Ala441Thr) n.3810G>A c.104G>A c.7195G>A (p.Ala2399Thr) c.7165G>A (p.Ala2389Thr) c.7102G>A (p.Ala2368Thr) c.6100G>A (p.Ala2034Thr) c.548G>A c.7301G>A (n.7301G>A) c.308G>A n.407G>A c.7156G>A (p.Ala2386Thr) c.7132G>A (p.Ala2378Thr) c.7192G>A (p.Ala2398Thr)
17	g.31343111G>C	CA399015738	NF1	c.7147G>C (p.Ala2383Pro) c.1729G>C (p.Ala577Pro) c.1321G>C (p.Ala441Pro) n.3810G>C c.104G>C c.7195G>C (p.Ala2399Pro) c.7165G>C (p.Ala2389Pro) c.7102G>C (p.Ala2368Pro) c.6100G>C (p.Ala2034Pro) c.548G>C c.7301G>C (n.7301G>C) c.308G>C n.407G>C c.7156G>C (p.Ala2386Pro) c.7132G>C (p.Ala2378Pro) c.7192G>C (p.Ala2398Pro)	dbSNP
17	g.31343111G=	CA2255605119	NF1	c.7147G= (p.Ala2383=) c.1729G= (p.Ala577=) c.1321G= (p.Ala441=) n.3810G= c.104G= c.7195G= (p.Ala2399=) c.7165G= (p.Ala2389=) c.7102G= (p.Ala2368=) c.6100G= (p.Ala2034=) c.548G= c.7301G= (n.7301G=) c.308G= n.407G= c.7156G= (p.Ala2386=) c.7132G= (p.Ala2378=) c.7192G= (p.Ala2398=)
17	g.31343111G>T	CA399015737	NF1	c.7147G>T (p.Ala2383Ser) c.1729G>T (p.Ala577Ser) c.1321G>T (p.Ala441Ser) n.3810G>T c.104G>T c.7195G>T (p.Ala2399Ser) c.7165G>T (p.Ala2389Ser) c.7102G>T (p.Ala2368Ser) c.6100G>T (p.Ala2034Ser) c.548G>T c.7301G>T (n.7301G>T) c.308G>T n.407G>T c.7156G>T (p.Ala2386Ser) c.7132G>T (p.Ala2378Ser) c.7192G>T (p.Ala2398Ser)	ClinVar dbSNP
17	g.31343111_31343112insGTTAAAGTTTAACTTTCT	CA2573332433	NF1	c.7147_7148insGTTAAAGTTTAACTTTCT (p.Ala2383GlyfsTer2) c.1729_1730insGTTAAAGTTTAACTTTCT (p.Ala577GlyfsTer2) c.1321_1322insGTTAAAGTTTAACTTTCT (p.Ala441GlyfsTer2) n.3810_3811insGTTAAAGTTTAACTTTCT c.104_105insGTTAAAGTTTAACTTTCT c.7195_7196insGTTAAAGTTTAACTTTCT (p.Ala2399GlyfsTer2) c.7165_7166insGTTAAAGTTTAACTTTCT (p.Ala2389GlyfsTer2) c.7102_7103insGTTAAAGTTTAACTTTCT (p.Ala2368GlyfsTer2) c.6100_6101insGTTAAAGTTTAACTTTCT (p.Ala2034GlyfsTer2) c.548_549insGTTAAAGTTTAACTTTCT c.7301_7302insGTTAAAGTTTAACTTTCT (n.7301_7302insGTTAAAGTTTAACTTTCT) c.308_309insGTTAAAGTTTAACTTTCT n.407_408insGTTAAAGTTTAACTTTCT c.7156_7157insGTTAAAGTTTAACTTTCT (p.Ala2386GlyfsTer2) c.7132_7133insGTTAAAGTTTAACTTTCT (p.Ala2378GlyfsTer2) c.7192_7193insGTTAAAGTTTAACTTTCT (p.Ala2398GlyfsTer2)
17	g.31343112C>A	CA399015740	NF1	c.7148C>A (p.Ala2383Glu) c.1730C>A (p.Ala577Glu) c.1322C>A (p.Ala441Glu) n.3811C>A c.105C>A c.7196C>A (p.Ala2399Glu) c.7166C>A (p.Ala2389Glu) c.7103C>A (p.Ala2368Glu) c.6101C>A (p.Ala2034Glu) c.549C>A c.7302C>A (n.7302C>A) c.309C>A n.408C>A c.7157C>A (p.Ala2386Glu) c.7133C>A (p.Ala2378Glu) c.7193C>A (p.Ala2398Glu)
17	g.31343112C>G	CA399015741	NF1	c.7148C>G (p.Ala2383Gly) c.1730C>G (p.Ala577Gly) c.1322C>G (p.Ala441Gly) n.3811C>G c.105C>G c.7196C>G (p.Ala2399Gly) c.7166C>G (p.Ala2389Gly) c.7103C>G (p.Ala2368Gly) c.6101C>G (p.Ala2034Gly) c.549C>G c.7302C>G (n.7302C>G) c.309C>G n.408C>G c.7157C>G (p.Ala2386Gly) c.7133C>G (p.Ala2378Gly) c.7193C>G (p.Ala2398Gly)	dbSNP
17	g.31343112C>T	CA399015742	NF1	c.7148C>T (p.Ala2383Val) c.1730C>T (p.Ala577Val) c.1322C>T (p.Ala441Val) n.3811C>T c.105C>T c.7196C>T (p.Ala2399Val) c.7166C>T (p.Ala2389Val) c.7103C>T (p.Ala2368Val) c.6101C>T (p.Ala2034Val) c.549C>T c.7302C>T (n.7302C>T) c.309C>T n.408C>T c.7157C>T (p.Ala2386Val) c.7133C>T (p.Ala2378Val) c.7193C>T (p.Ala2398Val)	dbSNP
17	g.31343113del	CA2580093269	NF1	c.7149del (p.Leu2384TrpfsTer6) c.1731del (p.Leu578TrpfsTer6) c.1323del (p.Leu442TrpfsTer6) n.3812del c.106del c.7197del (p.Leu2400TrpfsTer6) c.7167del (p.Leu2390TrpfsTer6) c.7104del (p.Leu2369TrpfsTer6) c.6102del (p.Leu2035TrpfsTer6) c.550del c.7303del (n.7303del) c.310del n.409del c.7158del (p.Leu2387TrpfsTer6) c.7134del (p.Leu2379TrpfsTer6) c.7194del (p.Leu2399TrpfsTer6)	ClinVar
17	g.31343113A=	CA2255605120	NF1	c.7149A= (p.Ala2383=) c.1731A= (p.Ala577=) c.1323A= (p.Ala441=) n.3812A= c.106A= c.7197A= (p.Ala2399=) c.7167A= (p.Ala2389=) c.7104A= (p.Ala2368=) c.6102A= (p.Ala2034=) c.550A= c.7303A= (n.7303A=) c.310A= n.409A= c.7158A= (p.Ala2386=) c.7134A= (p.Ala2378=) c.7194A= (p.Ala2398=)
17	g.31343113A>C	CA499236849	NF1	c.7149A>C (p.Ala2383=) c.1731A>C (p.Ala577=) c.1323A>C (p.Ala441=) n.3812A>C c.106A>C c.7197A>C (p.Ala2399=) c.7167A>C (p.Ala2389=) c.7104A>C (p.Ala2368=) c.6102A>C (p.Ala2034=) c.550A>C c.7303A>C (n.7303A>C) c.310A>C n.409A>C c.7158A>C (p.Ala2386=) c.7134A>C (p.Ala2378=) c.7194A>C (p.Ala2398=)	ClinVar dbSNP gnomAD v4
17	g.31343113A>G	CA499236850	NF1	c.7149A>G (p.Ala2383=) c.1731A>G (p.Ala577=) c.1323A>G (p.Ala441=) n.3812A>G c.106A>G c.7197A>G (p.Ala2399=) c.7167A>G (p.Ala2389=) c.7104A>G (p.Ala2368=) c.6102A>G (p.Ala2034=) c.550A>G c.7303A>G (n.7303A>G) c.310A>G n.409A>G c.7158A>G (p.Ala2386=) c.7134A>G (p.Ala2378=) c.7194A>G (p.Ala2398=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.31343113A>T	CA499236851	NF1	c.7149A>T (p.Ala2383=) c.1731A>T (p.Ala577=) c.1323A>T (p.Ala441=) n.3812A>T c.106A>T c.7197A>T (p.Ala2399=) c.7167A>T (p.Ala2389=) c.7104A>T (p.Ala2368=) c.6102A>T (p.Ala2034=) c.550A>T c.7303A>T (n.7303A>T) c.310A>T n.409A>T c.7158A>T (p.Ala2386=) c.7134A>T (p.Ala2378=) c.7194A>T (p.Ala2398=)	dbSNP
17	g.31343114T>A	CA399015743	NF1	c.7150T>A (p.Leu2384Met) c.1732T>A (p.Leu578Met) c.1324T>A (p.Leu442Met) n.3813T>A c.107T>A c.7198T>A (p.Leu2400Met) c.7168T>A (p.Leu2390Met) c.7105T>A (p.Leu2369Met) c.6103T>A (p.Leu2035Met) c.551T>A c.7304T>A (n.7304T>A) c.311T>A n.410T>A c.7159T>A (p.Leu2387Met) c.7135T>A (p.Leu2379Met) c.7195T>A (p.Leu2399Met)	dbSNP
17	g.31343114T>C	CA499236852	NF1	c.7150T>C (p.Leu2384=) c.1732T>C (p.Leu578=) c.1324T>C (p.Leu442=) n.3813T>C c.107T>C c.7198T>C (p.Leu2400=) c.7168T>C (p.Leu2390=) c.7105T>C (p.Leu2369=) c.6103T>C (p.Leu2035=) c.551T>C c.7304T>C (n.7304T>C) c.311T>C n.410T>C c.7159T>C (p.Leu2387=) c.7135T>C (p.Leu2379=) c.7195T>C (p.Leu2399=)
17	g.31343114T>G	CA399015744	NF1	c.7150T>G (p.Leu2384Val) c.1732T>G (p.Leu578Val) c.1324T>G (p.Leu442Val) n.3813T>G c.107T>G c.7198T>G (p.Leu2400Val) c.7168T>G (p.Leu2390Val) c.7105T>G (p.Leu2369Val) c.6103T>G (p.Leu2035Val) c.551T>G c.7304T>G (n.7304T>G) c.311T>G n.410T>G c.7159T>G (p.Leu2387Val) c.7135T>G (p.Leu2379Val) c.7195T>G (p.Leu2399Val)
17	g.31343114_31343124delinsTTGGTTGGACA	CA2255605121	NF1	c.7150_7160delinsTTGGTTGGACA (p.Leu2384=) c.1732_1742delinsTTGGTTGGACA (p.Leu578=) c.1324_1334delinsTTGGTTGGACA (p.Leu442=) n.3813_3823delinsTTGGTTGGACA c.107_117delinsTTGGTTGGACA c.7198_7208delinsTTGGTTGGACA (p.Leu2400=) c.7168_7178delinsTTGGTTGGACA (p.Leu2390=) c.7105_7115delinsTTGGTTGGACA (p.Leu2369=) c.6103_6113delinsTTGGTTGGACA (p.Leu2035=) c.551_561delinsTTGGTTGGACA c.7304_7314delinsTTGGTTGGACA (n.7304_7314delinsTTGGTTGGACA) c.311_321delinsTTGGTTGGACA n.410_420delinsTTGGTTGGACA c.7159_7169delinsTTGGTTGGACA (p.Leu2387=) c.7135_7145delinsTTGGTTGGACA (p.Leu2379=) c.7195_7205delinsTTGGTTGGACA (p.Leu2399=)
17	g.31343115T>A	CA399015745	NF1	c.7151T>A (p.Leu2384Ter) c.1733T>A (p.Leu578Ter) c.1325T>A (p.Leu442Ter) n.3814T>A c.108T>A c.7199T>A (p.Leu2400Ter) c.7169T>A (p.Leu2390Ter) c.7106T>A (p.Leu2369Ter) c.6104T>A (p.Leu2035Ter) c.552T>A c.7305T>A (n.7305T>A) c.312T>A n.411T>A c.7160T>A (p.Leu2387Ter) c.7136T>A (p.Leu2379Ter) c.7196T>A (p.Leu2399Ter)	dbSNP
17	g.31343115T>C	CA399015746	NF1	c.7151T>C (p.Leu2384Ser) c.1733T>C (p.Leu578Ser) c.1325T>C (p.Leu442Ser) n.3814T>C c.108T>C c.7199T>C (p.Leu2400Ser) c.7169T>C (p.Leu2390Ser) c.7106T>C (p.Leu2369Ser) c.6104T>C (p.Leu2035Ser) c.552T>C c.7305T>C (n.7305T>C) c.312T>C n.411T>C c.7160T>C (p.Leu2387Ser) c.7136T>C (p.Leu2379Ser) c.7196T>C (p.Leu2399Ser)
17	g.31343115T>G	CA399015747	NF1	c.7151T>G (p.Leu2384Trp) c.1733T>G (p.Leu578Trp) c.1325T>G (p.Leu442Trp) n.3814T>G c.108T>G c.7199T>G (p.Leu2400Trp) c.7169T>G (p.Leu2390Trp) c.7106T>G (p.Leu2369Trp) c.6104T>G (p.Leu2035Trp) c.552T>G c.7305T>G (n.7305T>G) c.312T>G n.411T>G c.7160T>G (p.Leu2387Trp) c.7136T>G (p.Leu2379Trp) c.7196T>G (p.Leu2399Trp)	ClinVar dbSNP
17	g.31343115T=	CA2255605122	NF1	c.7151T= (p.Leu2384=) c.1733T= (p.Leu578=) c.1325T= (p.Leu442=) n.3814T= c.108T= c.7199T= (p.Leu2400=) c.7169T= (p.Leu2390=) c.7106T= (p.Leu2369=) c.6104T= (p.Leu2035=) c.552T= c.7305T= (n.7305T=) c.312T= n.411T= c.7160T= (p.Leu2387=) c.7136T= (p.Leu2379=) c.7196T= (p.Leu2399=)
17	g.31343115_31343124delinsCAGC	CA658824593	NF1	c.7151_7160delinsCAGC (p.Leu2384_His2387delinsSerAla) c.1733_1742delinsCAGC (p.Leu578_His581delinsSerAla) c.1325_1334delinsCAGC (p.Leu442_His445delinsSerAla) n.3814_3823delinsCAGC c.108_117delinsCAGC c.7199_7208delinsCAGC (p.Leu2400_His2403delinsSerAla) c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla) c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla) c.6104_6113delinsCAGC (p.Leu2035_His2038delinsSerAla) c.552_561delinsCAGC c.7305_7314delinsCAGC (n.7305_7314delinsCAGC) c.312_321delinsCAGC n.411_420delinsCAGC c.7160_7169delinsCAGC (p.Leu2387_His2390delinsSerAla) c.7136_7145delinsCAGC (p.Leu2379_His2382delinsSerAla) c.7196_7205delinsCAGC (p.Leu2399_His2402delinsSerAla)	ClinVar dbSNP
17	g.31343115_31343116insAACC	CA2573054400	NF1	c.7151_7152insAACC (p.Val2385ThrfsTer?) c.1733_1734insAACC (p.Val579ThrfsTer?) c.1325_1326insAACC (p.Val443ThrfsTer?) n.3814_3815insAACC c.108_109insAACC c.7199_7200insAACC (p.Val2401ThrfsTer?) c.7169_7170insAACC (p.Val2391ThrfsTer?) c.7106_7107insAACC (p.Val2370ThrfsTer?) c.6104_6105insAACC (p.Val2036ThrfsTer?) c.552_553insAACC c.7305_7306insAACC (n.7305_7306insAACC) c.312_313insAACC n.411_412insAACC c.7160_7161insAACC (p.Val2388ThrfsTer?) c.7136_7137insAACC (p.Val2380ThrfsTer?) c.7196_7197insAACC (p.Val2400ThrfsTer?)	ClinVar dbSNP
17	g.31343116G>A	CA499236853	NF1	c.7152G>A (p.Leu2384=) c.1734G>A (p.Leu578=) c.1326G>A (p.Leu442=) n.3815G>A c.109G>A c.7200G>A (p.Leu2400=) c.7170G>A (p.Leu2390=) c.7107G>A (p.Leu2369=) c.6105G>A (p.Leu2035=) c.553G>A c.7306G>A (n.7306G>A) c.313G>A n.412G>A c.7161G>A (p.Leu2387=) c.7137G>A (p.Leu2379=) c.7197G>A (p.Leu2399=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.31343116G>C	CA399015748	NF1	c.7152G>C (p.Leu2384Phe) c.1734G>C (p.Leu578Phe) c.1326G>C (p.Leu442Phe) n.3815G>C c.109G>C c.7200G>C (p.Leu2400Phe) c.7170G>C (p.Leu2390Phe) c.7107G>C (p.Leu2369Phe) c.6105G>C (p.Leu2035Phe) c.553G>C c.7306G>C (n.7306G>C) c.313G>C n.412G>C c.7161G>C (p.Leu2387Phe) c.7137G>C (p.Leu2379Phe) c.7197G>C (p.Leu2399Phe)	ClinVar dbSNP
17	g.31343116G=	CA2255605123	NF1	c.7152G= (p.Leu2384=) c.1734G= (p.Leu578=) c.1326G= (p.Leu442=) n.3815G= c.109G= c.7200G= (p.Leu2400=) c.7170G= (p.Leu2390=) c.7107G= (p.Leu2369=) c.6105G= (p.Leu2035=) c.553G= c.7306G= (n.7306G=) c.313G= n.412G= c.7161G= (p.Leu2387=) c.7137G= (p.Leu2379=) c.7197G= (p.Leu2399=)
17	g.31343116G>T	CA8487505	NF1	c.7152G>T (p.Leu2384Phe) c.1734G>T (p.Leu578Phe) c.1326G>T (p.Leu442Phe) n.3815G>T c.109G>T c.7200G>T (p.Leu2400Phe) c.7170G>T (p.Leu2390Phe) c.7107G>T (p.Leu2369Phe) c.6105G>T (p.Leu2035Phe) c.553G>T c.7306G>T (n.7306G>T) c.313G>T n.412G>T c.7161G>T (p.Leu2387Phe) c.7137G>T (p.Leu2379Phe) c.7197G>T (p.Leu2399Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.31343117del	CA2499224214	NF1	c.7153del (p.Val2385LeufsTer5) c.1735del (p.Val579LeufsTer5) c.1327del (p.Val443LeufsTer5) n.3816del c.110del c.7201del (p.Val2401LeufsTer5) c.7171del (p.Val2391LeufsTer5) c.7108del (p.Val2370LeufsTer5) c.6106del (p.Val2036LeufsTer5) c.554del c.7307del (n.7307del) c.314del n.413del c.7162del (p.Val2388LeufsTer5) c.7138del (p.Val2380LeufsTer5) c.7198del (p.Val2400LeufsTer5)	ClinVar dbSNP
17	g.31343117G>A	CA399015749	NF1	c.7153G>A (p.Val2385Ile) c.1735G>A (p.Val579Ile) c.1327G>A (p.Val443Ile) n.3816G>A c.110G>A c.7201G>A (p.Val2401Ile) c.7171G>A (p.Val2391Ile) c.7108G>A (p.Val2370Ile) c.6106G>A (p.Val2036Ile) c.554G>A c.7307G>A (n.7307G>A) c.314G>A n.413G>A c.7162G>A (p.Val2388Ile) c.7138G>A (p.Val2380Ile) c.7198G>A (p.Val2400Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.31343117G>C	CA399015750	NF1	c.7153G>C (p.Val2385Leu) c.1735G>C (p.Val579Leu) c.1327G>C (p.Val443Leu) n.3816G>C c.110G>C c.7201G>C (p.Val2401Leu) c.7171G>C (p.Val2391Leu) c.7108G>C (p.Val2370Leu) c.6106G>C (p.Val2036Leu) c.554G>C c.7307G>C (n.7307G>C) c.314G>C n.413G>C c.7162G>C (p.Val2388Leu) c.7138G>C (p.Val2380Leu) c.7198G>C (p.Val2400Leu)	dbSNP
17	g.31343117G=	CA2255605124	NF1	c.7153G= (p.Val2385=) c.1735G= (p.Val579=) c.1327G= (p.Val443=) n.3816G= c.110G= c.7201G= (p.Val2401=) c.7171G= (p.Val2391=) c.7108G= (p.Val2370=) c.6106G= (p.Val2036=) c.554G= c.7307G= (n.7307G=) c.314G= n.413G= c.7162G= (p.Val2388=) c.7138G= (p.Val2380=) c.7198G= (p.Val2400=)
17	g.31343117G>T	CA399015751	NF1	c.7153G>T (p.Val2385Phe) c.1735G>T (p.Val579Phe) c.1327G>T (p.Val443Phe) n.3816G>T c.110G>T c.7201G>T (p.Val2401Phe) c.7171G>T (p.Val2391Phe) c.7108G>T (p.Val2370Phe) c.6106G>T (p.Val2036Phe) c.554G>T c.7307G>T (n.7307G>T) c.314G>T n.413G>T c.7162G>T (p.Val2388Phe) c.7138G>T (p.Val2380Phe) c.7198G>T (p.Val2400Phe)	dbSNP COSMIC
17	g.31343118T>A	CA399015754	NF1	c.7154T>A (p.Val2385Asp) c.1736T>A (p.Val579Asp) c.1328T>A (p.Val443Asp) n.3817T>A c.111T>A c.7202T>A (p.Val2401Asp) c.7172T>A (p.Val2391Asp) c.7109T>A (p.Val2370Asp) c.6107T>A (p.Val2036Asp) c.555T>A c.7308T>A (n.7308T>A) c.315T>A n.414T>A c.7163T>A (p.Val2388Asp) c.7139T>A (p.Val2380Asp) c.7199T>A (p.Val2400Asp)	ClinVar dbSNP
17	g.31343118T>C	CA399015752	NF1	c.7154T>C (p.Val2385Ala) c.1736T>C (p.Val579Ala) c.1328T>C (p.Val443Ala) n.3817T>C c.111T>C c.7202T>C (p.Val2401Ala) c.7172T>C (p.Val2391Ala) c.7109T>C (p.Val2370Ala) c.6107T>C (p.Val2036Ala) c.555T>C c.7308T>C (n.7308T>C) c.315T>C n.414T>C c.7163T>C (p.Val2388Ala) c.7139T>C (p.Val2380Ala) c.7199T>C (p.Val2400Ala)	ClinVar dbSNP COSMIC
17	g.31343118T>G	CA399015753	NF1	c.7154T>G (p.Val2385Gly) c.1736T>G (p.Val579Gly) c.1328T>G (p.Val443Gly) n.3817T>G c.111T>G c.7202T>G (p.Val2401Gly) c.7172T>G (p.Val2391Gly) c.7109T>G (p.Val2370Gly) c.6107T>G (p.Val2036Gly) c.555T>G c.7308T>G (n.7308T>G) c.315T>G n.414T>G c.7163T>G (p.Val2388Gly) c.7139T>G (p.Val2380Gly) c.7199T>G (p.Val2400Gly)
17	g.31343118T=	CA2255605125	NF1	c.7154T= (p.Val2385=) c.1736T= (p.Val579=) c.1328T= (p.Val443=) n.3817T= c.111T= c.7202T= (p.Val2401=) c.7172T= (p.Val2391=) c.7109T= (p.Val2370=) c.6107T= (p.Val2036=) c.555T= c.7308T= (n.7308T=) c.315T= n.414T= c.7163T= (p.Val2388=) c.7139T= (p.Val2380=) c.7199T= (p.Val2400=)
17	g.31343119dup	CA2580093272	NF1	c.7155dup (p.Gly2386TrpfsTer30) c.1737dup (p.Gly580TrpfsTer30) c.1329dup (p.Gly444TrpfsTer30) n.3818dup c.112dup c.7203dup (p.Gly2402TrpfsTer30) c.7173dup (p.Gly2392TrpfsTer30) c.7110dup (p.Gly2371TrpfsTer30) c.6108dup (p.Gly2037TrpfsTer30) c.556dup c.7309dup (n.7309dup) c.316dup n.415dup c.7164dup (p.Gly2389TrpfsTer30) c.7140dup (p.Gly2381TrpfsTer30) c.7200dup (p.Gly2401TrpfsTer30)	ClinVar
17	g.31343119T>A	CA499236856	NF1	c.7155T>A (p.Val2385=) c.1737T>A (p.Val579=) c.1329T>A (p.Val443=) n.3818T>A c.112T>A c.7203T>A (p.Val2401=) c.7173T>A (p.Val2391=) c.7110T>A (p.Val2370=) c.6108T>A (p.Val2036=) c.556T>A c.7309T>A (n.7309T>A) c.316T>A n.415T>A c.7164T>A (p.Val2388=) c.7140T>A (p.Val2380=) c.7200T>A (p.Val2400=)
17	g.31343119T>C	CA499236855	NF1	c.7155T>C (p.Val2385=) c.1737T>C (p.Val579=) c.1329T>C (p.Val443=) n.3818T>C c.112T>C c.7203T>C (p.Val2401=) c.7173T>C (p.Val2391=) c.7110T>C (p.Val2370=) c.6108T>C (p.Val2036=) c.556T>C c.7309T>C (n.7309T>C) c.316T>C n.415T>C c.7164T>C (p.Val2388=) c.7140T>C (p.Val2380=) c.7200T>C (p.Val2400=)
17	g.31343119T>G	CA499236854	NF1	c.7155T>G (p.Val2385=) c.1737T>G (p.Val579=) c.1329T>G (p.Val443=) n.3818T>G c.112T>G c.7203T>G (p.Val2401=) c.7173T>G (p.Val2391=) c.7110T>G (p.Val2370=) c.6108T>G (p.Val2036=) c.556T>G c.7309T>G (n.7309T>G) c.316T>G n.415T>G c.7164T>G (p.Val2388=) c.7140T>G (p.Val2380=) c.7200T>G (p.Val2400=)
17	g.31343119_31343120del	CA2499224215	NF1	c.7155_7156del (p.Gly2386ThrfsTer29) c.1737_1738del (p.Gly580ThrfsTer29) c.1329_1330del (p.Gly444ThrfsTer29) n.3818_3819del c.112_113del c.7203_7204del (p.Gly2402ThrfsTer29) c.7173_7174del (p.Gly2392ThrfsTer29) c.7110_7111del (p.Gly2371ThrfsTer29) c.6108_6109del (p.Gly2037ThrfsTer29) c.556_557del c.7309_7310del (n.7309_7310del) c.316_317del n.415_416del c.7164_7165del (p.Gly2389ThrfsTer29) c.7140_7141del (p.Gly2381ThrfsTer29) c.7200_7201del (p.Gly2401ThrfsTer29)	ClinVar dbSNP
17	g.31343119_31343120delinsTG	CA2255605126	NF1	c.7155_7156delinsTG (p.Val2385=) c.1737_1738delinsTG (p.Val579=) c.1329_1330delinsTG (p.Val443=) n.3818_3819delinsTG c.112_113delinsTG c.7203_7204delinsTG (p.Val2401=) c.7173_7174delinsTG (p.Val2391=) c.7110_7111delinsTG (p.Val2370=) c.6108_6109delinsTG (p.Val2036=) c.556_557delinsTG c.7309_7310delinsTG (n.7309_7310delinsTG) c.316_317delinsTG n.415_416delinsTG c.7164_7165delinsTG (p.Val2388=) c.7140_7141delinsTG (p.Val2380=) c.7200_7201delinsTG (p.Val2400=)
17	g.31343120G>A	CA399015755	NF1	c.7156G>A (p.Gly2386Arg) c.1738G>A (p.Gly580Arg) c.1330G>A (p.Gly444Arg) n.3819G>A c.113G>A c.7204G>A (p.Gly2402Arg) c.7174G>A (p.Gly2392Arg) c.7111G>A (p.Gly2371Arg) c.6109G>A (p.Gly2037Arg) c.557G>A c.7310G>A (n.7310G>A) c.317G>A n.416G>A c.7165G>A (p.Gly2389Arg) c.7141G>A (p.Gly2381Arg) c.7201G>A (p.Gly2401Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.31343120G>C	CA399015756	NF1	c.7156G>C (p.Gly2386Arg) c.1738G>C (p.Gly580Arg) c.1330G>C (p.Gly444Arg) n.3819G>C c.113G>C c.7204G>C (p.Gly2402Arg) c.7174G>C (p.Gly2392Arg) c.7111G>C (p.Gly2371Arg) c.6109G>C (p.Gly2037Arg) c.557G>C c.7310G>C (n.7310G>C) c.317G>C n.416G>C c.7165G>C (p.Gly2389Arg) c.7141G>C (p.Gly2381Arg) c.7201G>C (p.Gly2401Arg)	ClinVar dbSNP
17	g.31343120G=	CA2255605128	NF1	c.7156G= (p.Gly2386=) c.1738G= (p.Gly580=) c.1330G= (p.Gly444=) n.3819G= c.113G= c.7204G= (p.Gly2402=) c.7174G= (p.Gly2392=) c.7111G= (p.Gly2371=) c.6109G= (p.Gly2037=) c.557G= c.7310G= (n.7310G=) c.317G= n.416G= c.7165G= (p.Gly2389=) c.7141G= (p.Gly2381=) c.7201G= (p.Gly2401=)
17	g.31343120G>T	CA399015757	NF1	c.7156G>T (p.Gly2386Ter) c.1738G>T (p.Gly580Ter) c.1330G>T (p.Gly444Ter) n.3819G>T c.113G>T c.7204G>T (p.Gly2402Ter) c.7174G>T (p.Gly2392Ter) c.7111G>T (p.Gly2371Ter) c.6109G>T (p.Gly2037Ter) c.557G>T c.7310G>T (n.7310G>T) c.317G>T n.416G>T c.7165G>T (p.Gly2389Ter) c.7141G>T (p.Gly2381Ter) c.7201G>T (p.Gly2401Ter)	ClinVar dbSNP
17	g.31343121del	CA2255605127	NF1	c.7157del (p.Gly2386AspfsTer4) c.1739del (p.Gly580AspfsTer4) c.1331del (p.Gly444AspfsTer4) n.3820del c.114del c.7205del (p.Gly2402AspfsTer4) c.7175del (p.Gly2392AspfsTer4) c.7112del (p.Gly2371AspfsTer4) c.6110del (p.Gly2037AspfsTer4) c.558del c.7311del (n.7311del) c.318del n.417del c.7166del (p.Gly2389AspfsTer4) c.7142del (p.Gly2381AspfsTer4) c.7202del (p.Gly2401AspfsTer4)	ClinVar dbSNP
17	g.31343121G>A	CA399015758	NF1	c.7157G>A (p.Gly2386Glu) c.1739G>A (p.Gly580Glu) c.1331G>A (p.Gly444Glu) n.3820G>A c.114G>A c.7205G>A (p.Gly2402Glu) c.7175G>A (p.Gly2392Glu) c.7112G>A (p.Gly2371Glu) c.6110G>A (p.Gly2037Glu) c.558G>A c.7311G>A (n.7311G>A) c.318G>A n.417G>A c.7166G>A (p.Gly2389Glu) c.7142G>A (p.Gly2381Glu) c.7202G>A (p.Gly2401Glu)	ClinVar dbSNP
17	g.31343121G>C	CA399015759	NF1	c.7157G>C (p.Gly2386Ala) c.1739G>C (p.Gly580Ala) c.1331G>C (p.Gly444Ala) n.3820G>C c.114G>C c.7205G>C (p.Gly2402Ala) c.7175G>C (p.Gly2392Ala) c.7112G>C (p.Gly2371Ala) c.6110G>C (p.Gly2037Ala) c.558G>C c.7311G>C (n.7311G>C) c.318G>C n.417G>C c.7166G>C (p.Gly2389Ala) c.7142G>C (p.Gly2381Ala) c.7202G>C (p.Gly2401Ala)	dbSNP
17	g.31343121G>T	CA399015760	NF1	c.7157G>T (p.Gly2386Val) c.1739G>T (p.Gly580Val) c.1331G>T (p.Gly444Val) n.3820G>T c.114G>T c.7205G>T (p.Gly2402Val) c.7175G>T (p.Gly2392Val) c.7112G>T (p.Gly2371Val) c.6110G>T (p.Gly2037Val) c.558G>T c.7311G>T (n.7311G>T) c.318G>T n.417G>T c.7166G>T (p.Gly2389Val) c.7142G>T (p.Gly2381Val) c.7202G>T (p.Gly2401Val)
17	g.31343122A>C	CA499236857	NF1	c.7158A>C (p.Gly2386=) c.1740A>C (p.Gly580=) c.1332A>C (p.Gly444=) n.3821A>C c.115A>C c.7206A>C (p.Gly2402=) c.7176A>C (p.Gly2392=) c.7113A>C (p.Gly2371=) c.6111A>C (p.Gly2037=) c.559A>C c.7312A>C (n.7312A>C) c.319A>C n.418A>C c.7167A>C (p.Gly2389=) c.7143A>C (p.Gly2381=) c.7203A>C (p.Gly2401=)
17	g.31343122A>G	CA499236858	NF1	c.7158A>G (p.Gly2386=) c.1740A>G (p.Gly580=) c.1332A>G (p.Gly444=) n.3821A>G c.115A>G c.7206A>G (p.Gly2402=) c.7176A>G (p.Gly2392=) c.7113A>G (p.Gly2371=) c.6111A>G (p.Gly2037=) c.559A>G c.7312A>G (n.7312A>G) c.319A>G n.418A>G c.7167A>G (p.Gly2389=) c.7143A>G (p.Gly2381=) c.7203A>G (p.Gly2401=)
17	g.31343122A>T	CA499236859	NF1	c.7158A>T (p.Gly2386=) c.1740A>T (p.Gly580=) c.1332A>T (p.Gly444=) n.3821A>T c.115A>T c.7206A>T (p.Gly2402=) c.7176A>T (p.Gly2392=) c.7113A>T (p.Gly2371=) c.6111A>T (p.Gly2037=) c.559A>T c.7312A>T (n.7312A>T) c.319A>T n.418A>T c.7167A>T (p.Gly2389=) c.7143A>T (p.Gly2381=) c.7203A>T (p.Gly2401=)	dbSNP
17	g.31343123C>A	CA399015761	NF1	c.7159C>A (p.His2387Asn) c.1741C>A (p.His581Asn) c.1333C>A (p.His445Asn) n.3822C>A c.116C>A c.7207C>A (p.His2403Asn) c.7177C>A (p.His2393Asn) c.7114C>A (p.His2372Asn) c.6112C>A (p.His2038Asn) c.560C>A c.7313C>A (n.7313C>A) c.320C>A n.419C>A c.7168C>A (p.His2390Asn) c.7144C>A (p.His2382Asn) c.7204C>A (p.His2402Asn)
17	g.31343123C=	CA2255605129	NF1	c.7159C= (p.His2387=) c.1741C= (p.His581=) c.1333C= (p.His445=) n.3822C= c.116C= c.7207C= (p.His2403=) c.7177C= (p.His2393=) c.7114C= (p.His2372=) c.6112C= (p.His2038=) c.560C= c.7313C= (n.7313C=) c.320C= n.419C= c.7168C= (p.His2390=) c.7144C= (p.His2382=) c.7204C= (p.His2402=)
17	g.31343123C>G	CA399015762	NF1	c.7159C>G (p.His2387Asp) c.1741C>G (p.His581Asp) c.1333C>G (p.His445Asp) n.3822C>G c.116C>G c.7207C>G (p.His2403Asp) c.7177C>G (p.His2393Asp) c.7114C>G (p.His2372Asp) c.6112C>G (p.His2038Asp) c.560C>G c.7313C>G (n.7313C>G) c.320C>G n.419C>G c.7168C>G (p.His2390Asp) c.7144C>G (p.His2382Asp) c.7204C>G (p.His2402Asp)	dbSNP
17	g.31343123C>T	CA399015763	NF1	c.7159C>T (p.His2387Tyr) c.1741C>T (p.His581Tyr) c.1333C>T (p.His445Tyr) n.3822C>T c.116C>T c.7207C>T (p.His2403Tyr) c.7177C>T (p.His2393Tyr) c.7114C>T (p.His2372Tyr) c.6112C>T (p.His2038Tyr) c.560C>T c.7313C>T (n.7313C>T) c.320C>T n.419C>T c.7168C>T (p.His2390Tyr) c.7144C>T (p.His2382Tyr) c.7204C>T (p.His2402Tyr)	ClinVar dbSNP
17	g.31343124del	CA2695225451	NF1	c.7160del (p.His2387ProfsTer3) c.1742del (p.His581ProfsTer3) c.1334del (p.His445ProfsTer3) n.3823del c.117del c.7208del (p.His2403ProfsTer3) c.7178del (p.His2393ProfsTer3) c.7115del (p.His2372ProfsTer3) c.6113del (p.His2038ProfsTer3) c.561del c.7314del (n.7314del) c.321del n.420del c.7169del (p.His2390ProfsTer3) c.7145del (p.His2382ProfsTer3) c.7205del (p.His2402ProfsTer3)
17	g.31343124A=	CA2255605130	NF1	c.7160A= (p.His2387=) c.1742A= (p.His581=) c.1334A= (p.His445=) n.3823A= c.117A= c.7208A= (p.His2403=) c.7178A= (p.His2393=) c.7115A= (p.His2372=) c.6113A= (p.His2038=) c.561A= c.7314A= (n.7314A=) c.321A= n.420A= c.7169A= (p.His2390=) c.7145A= (p.His2382=) c.7205A= (p.His2402=)
17	g.31343124A>C	CA399015764	NF1	c.7160A>C (p.His2387Pro) c.1742A>C (p.His581Pro) c.1334A>C (p.His445Pro) n.3823A>C c.117A>C c.7208A>C (p.His2403Pro) c.7178A>C (p.His2393Pro) c.7115A>C (p.His2372Pro) c.6113A>C (p.His2038Pro) c.561A>C c.7314A>C (n.7314A>C) c.321A>C n.420A>C c.7169A>C (p.His2390Pro) c.7145A>C (p.His2382Pro) c.7205A>C (p.His2402Pro)	ClinVar
17	g.31343124A>G	CA399015765	NF1	c.7160A>G (p.His2387Arg) c.1742A>G (p.His581Arg) c.1334A>G (p.His445Arg) n.3823A>G c.117A>G c.7208A>G (p.His2403Arg) c.7178A>G (p.His2393Arg) c.7115A>G (p.His2372Arg) c.6113A>G (p.His2038Arg) c.561A>G c.7314A>G (n.7314A>G) c.321A>G n.420A>G c.7169A>G (p.His2390Arg) c.7145A>G (p.His2382Arg) c.7205A>G (p.His2402Arg)	ClinVar dbSNP
17	g.31343124A>T	CA399015766	NF1	c.7160A>T (p.His2387Leu) c.1742A>T (p.His581Leu) c.1334A>T (p.His445Leu) n.3823A>T c.117A>T c.7208A>T (p.His2403Leu) c.7178A>T (p.His2393Leu) c.7115A>T (p.His2372Leu) c.6113A>T (p.His2038Leu) c.561A>T c.7314A>T (n.7314A>T) c.321A>T n.420A>T c.7169A>T (p.His2390Leu) c.7145A>T (p.His2382Leu) c.7205A>T (p.His2402Leu)	dbSNP
17	g.31343124dup	CA2499224216	NF1	c.7160dup (p.His2387GlnfsTer29) c.1742dup (p.His581GlnfsTer29) c.1334dup (p.His445GlnfsTer29) n.3823dup c.117dup c.7208dup (p.His2403GlnfsTer29) c.7178dup (p.His2393GlnfsTer29) c.7115dup (p.His2372GlnfsTer29) c.6113dup (p.His2038GlnfsTer29) c.561dup c.7314dup (n.7314dup) c.321dup n.420dup c.7169dup (p.His2390GlnfsTer29) c.7145dup (p.His2382GlnfsTer29) c.7205dup (p.His2402GlnfsTer29)	ClinVar dbSNP
17	g.31343125C>A	CA399015767	NF1	c.7161C>A (p.His2387Gln) c.1743C>A (p.His581Gln) c.1335C>A (p.His445Gln) n.3824C>A c.118C>A c.7209C>A (p.His2403Gln) c.7179C>A (p.His2393Gln) c.7116C>A (p.His2372Gln) c.6114C>A (p.His2038Gln) c.562C>A c.7315C>A (n.7315C>A) c.322C>A n.421C>A c.7170C>A (p.His2390Gln) c.7146C>A (p.His2382Gln) c.7206C>A (p.His2402Gln)	ClinVar dbSNP
17	g.31343125C=	CA2255605131	NF1	c.7161C= (p.His2387=) c.1743C= (p.His581=) c.1335C= (p.His445=) n.3824C= c.118C= c.7209C= (p.His2403=) c.7179C= (p.His2393=) c.7116C= (p.His2372=) c.6114C= (p.His2038=) c.562C= c.7315C= (n.7315C=) c.322C= n.421C= c.7170C= (p.His2390=) c.7146C= (p.His2382=) c.7206C= (p.His2402=)
17	g.31343125C>G	CA399015768	NF1	c.7161C>G (p.His2387Gln) c.1743C>G (p.His581Gln) c.1335C>G (p.His445Gln) n.3824C>G c.118C>G c.7209C>G (p.His2403Gln) c.7179C>G (p.His2393Gln) c.7116C>G (p.His2372Gln) c.6114C>G (p.His2038Gln) c.562C>G c.7315C>G (n.7315C>G) c.322C>G n.421C>G c.7170C>G (p.His2390Gln) c.7146C>G (p.His2382Gln) c.7206C>G (p.His2402Gln)	ClinVar dbSNP
17	g.31343125C>T	CA499236860	NF1	c.7161C>T (p.His2387=) c.1743C>T (p.His581=) c.1335C>T (p.His445=) n.3824C>T c.118C>T c.7209C>T (p.His2403=) c.7179C>T (p.His2393=) c.7116C>T (p.His2372=) c.6114C>T (p.His2038=) c.562C>T c.7315C>T (n.7315C>T) c.322C>T n.421C>T c.7170C>T (p.His2390=) c.7146C>T (p.His2382=) c.7206C>T (p.His2402=)	ClinVar dbSNP gnomAD v4
17	g.31343126del	CA2697559658	NF1	c.7162del (p.Leu2388PhefsTer2) c.1744del (p.Leu582PhefsTer2) c.1336del (p.Leu446PhefsTer2) n.3825del c.119del c.7210del (p.Leu2404PhefsTer2) c.7180del (p.Leu2394PhefsTer2) c.7117del (p.Leu2373PhefsTer2) c.6115del (p.Leu2039PhefsTer2) c.563del c.7316del (n.7316del) c.323del n.422del c.7171del (p.Leu2391PhefsTer2) c.7147del (p.Leu2383PhefsTer2) c.7207del (p.Leu2403PhefsTer2)	ClinVar
17	g.31343126C>A	CA399015769	NF1	c.7162C>A (p.Leu2388Ile) c.1744C>A (p.Leu582Ile) c.1336C>A (p.Leu446Ile) n.3825C>A c.119C>A c.7210C>A (p.Leu2404Ile) c.7180C>A (p.Leu2394Ile) c.7117C>A (p.Leu2373Ile) c.6115C>A (p.Leu2039Ile) c.563C>A c.7316C>A (n.7316C>A) c.323C>A n.422C>A c.7171C>A (p.Leu2391Ile) c.7147C>A (p.Leu2383Ile) c.7207C>A (p.Leu2403Ile)	ClinVar dbSNP
17	g.31343126C=	CA2255605132	NF1	c.7162C= (p.Leu2388=) c.1744C= (p.Leu582=) c.1336C= (p.Leu446=) n.3825C= c.119C= c.7210C= (p.Leu2404=) c.7180C= (p.Leu2394=) c.7117C= (p.Leu2373=) c.6115C= (p.Leu2039=) c.563C= c.7316C= (n.7316C=) c.323C= n.422C= c.7171C= (p.Leu2391=) c.7147C= (p.Leu2383=) c.7207C= (p.Leu2403=)
17	g.31343126C>G	CA399015771	NF1	c.7162C>G (p.Leu2388Val) c.1744C>G (p.Leu582Val) c.1336C>G (p.Leu446Val) n.3825C>G c.119C>G c.7210C>G (p.Leu2404Val) c.7180C>G (p.Leu2394Val) c.7117C>G (p.Leu2373Val) c.6115C>G (p.Leu2039Val) c.563C>G c.7316C>G (n.7316C>G) c.323C>G n.422C>G c.7171C>G (p.Leu2391Val) c.7147C>G (p.Leu2383Val) c.7207C>G (p.Leu2403Val)	ClinVar dbSNP
17	g.31343126C>T	CA399015770	NF1	c.7162C>T (p.Leu2388Phe) c.1744C>T (p.Leu582Phe) c.1336C>T (p.Leu446Phe) n.3825C>T c.119C>T c.7210C>T (p.Leu2404Phe) c.7180C>T (p.Leu2394Phe) c.7117C>T (p.Leu2373Phe) c.6115C>T (p.Leu2039Phe) c.563C>T c.7316C>T (n.7316C>T) c.323C>T n.422C>T c.7171C>T (p.Leu2391Phe) c.7147C>T (p.Leu2383Phe) c.7207C>T (p.Leu2403Phe)
17	g.31343127T>A	CA399015772	NF1	c.7163T>A (p.Leu2388His) c.1745T>A (p.Leu582His) c.1337T>A (p.Leu446His) n.3826T>A c.120T>A c.7211T>A (p.Leu2404His) c.7181T>A (p.Leu2394His) c.7118T>A (p.Leu2373His) c.6116T>A (p.Leu2039His) c.564T>A c.7317T>A (n.7317T>A) c.324T>A n.423T>A c.7172T>A (p.Leu2391His) c.7148T>A (p.Leu2383His) c.7208T>A (p.Leu2403His)	ClinVar dbSNP
17	g.31343127T>C	CA399015774	NF1	c.7163T>C (p.Leu2388Pro) c.1745T>C (p.Leu582Pro) c.1337T>C (p.Leu446Pro) n.3826T>C c.120T>C c.7211T>C (p.Leu2404Pro) c.7181T>C (p.Leu2394Pro) c.7118T>C (p.Leu2373Pro) c.6116T>C (p.Leu2039Pro) c.564T>C c.7317T>C (n.7317T>C) c.324T>C n.423T>C c.7172T>C (p.Leu2391Pro) c.7148T>C (p.Leu2383Pro) c.7208T>C (p.Leu2403Pro)	ClinVar dbSNP
17	g.31343127T>G	CA399015773	NF1	c.7163T>G (p.Leu2388Arg) c.1745T>G (p.Leu582Arg) c.1337T>G (p.Leu446Arg) n.3826T>G c.120T>G c.7211T>G (p.Leu2404Arg) c.7181T>G (p.Leu2394Arg) c.7118T>G (p.Leu2373Arg) c.6116T>G (p.Leu2039Arg) c.564T>G c.7317T>G (n.7317T>G) c.324T>G n.423T>G c.7172T>G (p.Leu2391Arg) c.7148T>G (p.Leu2383Arg) c.7208T>G (p.Leu2403Arg)	ClinVar dbSNP
17	g.31343127T=	CA2255605133	NF1	c.7163T= (p.Leu2388=) c.1745T= (p.Leu582=) c.1337T= (p.Leu446=) n.3826T= c.120T= c.7211T= (p.Leu2404=) c.7181T= (p.Leu2394=) c.7118T= (p.Leu2373=) c.6116T= (p.Leu2039=) c.564T= c.7317T= (n.7317T=) c.324T= n.423T= c.7172T= (p.Leu2391=) c.7148T= (p.Leu2383=) c.7208T= (p.Leu2403=)
17	g.31343130dup	CA916080697	NF1	c.7166dup (p.Leu2389PhefsTer27) c.1748dup (p.Leu583PhefsTer27) c.1340dup (p.Leu447PhefsTer27) n.3829dup c.123dup c.7214dup (p.Leu2405PhefsTer27) c.7184dup (p.Leu2395PhefsTer27) c.7121dup (p.Leu2374PhefsTer27) c.6119dup (p.Leu2040PhefsTer27) c.567dup c.7320dup (n.7320dup) c.327dup n.426dup c.7175dup (p.Leu2392PhefsTer27) c.7151dup (p.Leu2384PhefsTer27) c.7211dup (p.Leu2404PhefsTer27)	ClinVar dbSNP
17	g.31343129_31343130dup	CA2695225453	NF1	c.7165_7166dup (p.Leu2389PhefsTer2) c.1747_1748dup (p.Leu583PhefsTer2) c.1339_1340dup (p.Leu447PhefsTer2) n.3828_3829dup c.122_123dup c.7213_7214dup (p.Leu2405PhefsTer2) c.7183_7184dup (p.Leu2395PhefsTer2) c.7120_7121dup (p.Leu2374PhefsTer2) c.6118_6119dup (p.Leu2040PhefsTer2) c.566_567dup c.7319_7320dup (n.7319_7320dup) c.326_327dup n.425_426dup c.7174_7175dup (p.Leu2392PhefsTer2) c.7150_7151dup (p.Leu2384PhefsTer2) c.7210_7211dup (p.Leu2404PhefsTer2)
17	g.31343130del	CA499236861	NF1	c.7166del (p.Leu2389Ter) c.1748del (p.Leu583Ter) c.1340del (p.Leu447Ter) n.3829del c.123del c.7214del (p.Leu2405Ter) c.7184del (p.Leu2395Ter) c.7121del (p.Leu2374Ter) c.6119del (p.Leu2040Ter) c.567del c.7320del (n.7320del) c.327del n.426del c.7175del (p.Leu2392Ter) c.7151del (p.Leu2384Ter) c.7211del (p.Leu2404Ter)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17	g.31343127_31343131del	CA2695225452	NF1	c.7163_7167del (p.Leu2388GlnfsTer26) c.1745_1749del (p.Leu582GlnfsTer26) c.1337_1341del (p.Leu446GlnfsTer26) n.3826_3830del c.120_124del c.7211_7215del (p.Leu2404GlnfsTer26) c.7181_7185del (p.Leu2394GlnfsTer26) c.7118_7122del (p.Leu2373GlnfsTer26) c.6116_6120del (p.Leu2039GlnfsTer26) c.564_568del c.7317_7321del (n.7317_7321del) c.324_328del n.423_427del c.7172_7176del (p.Leu2391GlnfsTer26) c.7148_7152del (p.Leu2383GlnfsTer26) c.7208_7212del (p.Leu2403GlnfsTer26)
17	g.31343128T>A	CA499236862	NF1	c.7164T>A (p.Leu2388=) c.1746T>A (p.Leu582=) c.1338T>A (p.Leu446=) n.3827T>A c.121T>A c.7212T>A (p.Leu2404=) c.7182T>A (p.Leu2394=) c.7119T>A (p.Leu2373=) c.6117T>A (p.Leu2039=) c.565T>A c.7318T>A (n.7318T>A) c.325T>A n.424T>A c.7173T>A (p.Leu2391=) c.7149T>A (p.Leu2383=) c.7209T>A (p.Leu2403=)
17	g.31343128T>C	CA499236863	NF1	c.7164T>C (p.Leu2388=) c.1746T>C (p.Leu582=) c.1338T>C (p.Leu446=) n.3827T>C c.121T>C c.7212T>C (p.Leu2404=) c.7182T>C (p.Leu2394=) c.7119T>C (p.Leu2373=) c.6117T>C (p.Leu2039=) c.565T>C c.7318T>C (n.7318T>C) c.325T>C n.424T>C c.7173T>C (p.Leu2391=) c.7149T>C (p.Leu2383=) c.7209T>C (p.Leu2403=)
17	g.31343128T>G	CA499236864	NF1	c.7164T>G (p.Leu2388=) c.1746T>G (p.Leu582=) c.1338T>G (p.Leu446=) n.3827T>G c.121T>G c.7212T>G (p.Leu2404=) c.7182T>G (p.Leu2394=) c.7119T>G (p.Leu2373=) c.6117T>G (p.Leu2039=) c.565T>G c.7318T>G (n.7318T>G) c.325T>G n.424T>G c.7173T>G (p.Leu2391=) c.7149T>G (p.Leu2383=) c.7209T>G (p.Leu2403=)
17	g.31343129T>A	CA399015775	NF1	c.7165T>A (p.Leu2389Ile) c.1747T>A (p.Leu583Ile) c.1339T>A (p.Leu447Ile) n.3828T>A c.122T>A c.7213T>A (p.Leu2405Ile) c.7183T>A (p.Leu2395Ile) c.7120T>A (p.Leu2374Ile) c.6118T>A (p.Leu2040Ile) c.566T>A c.7319T>A (n.7319T>A) c.326T>A n.425T>A c.7174T>A (p.Leu2392Ile) c.7150T>A (p.Leu2384Ile) c.7210T>A (p.Leu2404Ile)
17	g.31343129T>C	CA499236865	NF1	c.7165T>C (p.Leu2389=) c.1747T>C (p.Leu583=) c.1339T>C (p.Leu447=) n.3828T>C c.122T>C c.7213T>C (p.Leu2405=) c.7183T>C (p.Leu2395=) c.7120T>C (p.Leu2374=) c.6118T>C (p.Leu2040=) c.566T>C c.7319T>C (n.7319T>C) c.326T>C n.425T>C c.7174T>C (p.Leu2392=) c.7150T>C (p.Leu2384=) c.7210T>C (p.Leu2404=)
17	g.31343129T>G	CA399015776	NF1	c.7165T>G (p.Leu2389Val) c.1747T>G (p.Leu583Val) c.1339T>G (p.Leu447Val) n.3828T>G c.122T>G c.7213T>G (p.Leu2405Val) c.7183T>G (p.Leu2395Val) c.7120T>G (p.Leu2374Val) c.6118T>G (p.Leu2040Val) c.566T>G c.7319T>G (n.7319T>G) c.326T>G n.425T>G c.7174T>G (p.Leu2392Val) c.7150T>G (p.Leu2384Val) c.7210T>G (p.Leu2404Val)	ClinVar dbSNP
17	g.31343129T=	CA2255605134	NF1	c.7165T= (p.Leu2389=) c.1747T= (p.Leu583=) c.1339T= (p.Leu447=) n.3828T= c.122T= c.7213T= (p.Leu2405=) c.7183T= (p.Leu2395=) c.7120T= (p.Leu2374=) c.6118T= (p.Leu2040=) c.566T= c.7319T= (n.7319T=) c.326T= n.425T= c.7174T= (p.Leu2392=) c.7150T= (p.Leu2384=) c.7210T= (p.Leu2404=)

Number of alleles fetched