Table 2

Summary of NF1 mutations and sequence variations found. A total of 77 different potentially significant sequence variations were found, of which 57 (74%) are novel

Sample	NIH	Exon	Mutation	Type	Predicted effect	Accession	CpG
NF, fulfils diagnostic criteria; Q, does not fulfil diagnostic criteria.
D05-54	NF	1	1–14 to 7 del 21 bp	Frameshift	Truncated protein
D04-07	NF	2	127 del CT V65X	Frameshift	Truncated protein
D05-16	NF	3	271 G>A E91X	Nonsense	Truncated protein
D05-69	NF	4a	311 T>A L104X	Nonsense	Truncated protein
D02-34	NF	4b	499 del TGTT D176X	Frameshift	Truncated protein	CD995532
D02-65	NF	4c	597/8 del 23 V207X	Frameshift	Truncated protein
D05-53	NF	6	787 A>T K263X	Nonsense	Truncated protein
D02-16	NF	7	916 del G L316X	Frameshift	Truncated protein
D02-49	NF	7	889-2 A>G	Splice acceptor	Truncated protein	CS991467
D05-48	NF	9	1246 C>T R416X	Nonsense	Truncated protein	CM992366	Y
D02-11	NF	10a	1274 G>A W425X	Nonsense	Truncated protein	CM000779
D02-03	NF	10a	1318 C>T R440X	Nonsense	Truncated protein	CM950845	Y
D02-41	NF	10a	1318 C>T R440X	Nonsense	Truncated protein	CM950845	Y
D02-72	NF	10a	1318 C>T R440X	Nonsense	Truncated protein	CM950845	Y
D02-21	NF	10b	1527+1 G>C	Splice donor	Truncated protein
D02-56	NF	11	1642-2 A>G	Splice acceptor	Truncated protein
D02-23	NF	12a	1756 del ACTA I603X	Frameshift	Truncated protein	CD982825
D05-11	NF	13	2124 del CT E715X	Frameshift	Truncated protein
D05-43	NF	13	2034 ins C D699X	Frameshift	Truncated protein
D05-10	NF	13	2180 C>G S727X	Nonsense	Truncated protein
D02-12	NF	16	2851-2 A>G	Splice acceptor	Truncated protein
D05-66	NF	18	2991-4 del ATA	Splice acceptor	Truncated protein
D02-02	NF	19a	3163 C>T Q1055X	Nonsense	Truncated protein
D05-74	NF	21	3528 del A L1183X	Frameshift	Truncated protein
D05-45	NF	21	3546 del T L1183X	Frameshift	Truncated protein
D02-53	NF	22	3758 to 3762 del TCTAC F1261X	Frameshift	Truncated protein
D05-73	NF	22	3721 C>T R1241X	Nonsense	Truncated protein	CM000799	Y
D05-78	NF	22	3721 C>T R1241X	Nonsense	Truncated protein	CM000799	Y
D02-09	NF	23.1	3916 C>T R1306X	Nonsense	Truncated protein	CM981381	Y
D02-17	NF	23.2	3982 ins A E1333X	Frameshift	Truncated protein
D02-61	NF	23.2	4045 ins T S1373X	Frameshift	Truncated protein
D04-08	NF	23.2	4095 ins TG	Frameshift	Truncated protein
D05-90	NF	24	4265 C>A S1422X	Nonsense	Truncated protein
D02-45	NF	27a	4537 C>T R1513X	Nonsense	Truncated protein	CM941093	Y
D05-87	NF	27a	4537 C>T R1513X	Nonsense	Truncated protein	CM941093	Y
D05-76	NF	27a	4515-1 G>A	Splice acceptor	Truncated protein
D05-47	NF	28	4913 del TCTCT C1661X	Frameshift	Truncated protein	CD972357
D05-57	NF	28	4950 ins A Y1650X	Frameshift	Truncated protein
D05-62	NF	31	5898 del GA D1987X	Frameshift	Truncated protein
D05-01	NF	31	5943+1 G>T	Splice donor	Truncated protein
D02-31	NF	32	5944-1 G>C	Splice acceptor	Truncated protein
D05-04	NF	33	6181del 8bp D2074X	Frameshift	Truncated protein
D04-02	NF	35	6641+1 del G	Splice donor	Truncated protein
D04-05	NF	36	6709 C>T R2237X	Nonsense	Truncated protein	CM000815	Y
D05-70	NF	36	6709 C>T R2237X	Nonsense	Truncated protein	CM000815	Y
D02-62	NF	37	6792 C>A Y2264X	Nonsense	Truncated protein	CM981382
D02-36	NF	37	6792 C>G Y2264X	Nonsense	Truncated protein	CM981382
D05-65	NF	39	7096 ins A N2400X	Frameshift	Truncated protein
D02-35	NF	40	7206 del CA C2405X	Frameshift	Truncated protein
D05-09	NF	41	7285 C>T R2429X	Nonsense	Truncated protein	CM000818	Y
D02-22	NF	42	7427 ins TC S2502X	Frameshift	Truncated protein
D02-30	NF	42	7486 C>T R2496X	Nonsense	Truncated protein	CM941096	Y
D05-55	Q	12b	1994 C>T S665F	Missense	Amino acid substitution	CM000785
D02-40	NF	12b	1885 G>A G629R	Missense	Amino acid substitution	CM961026	Y
D02-68	NF	12b	1885 G>A G629R	Missense	Amino acid substitution	CM961026	Y
D02-78	Q	16	2530 C>T L844F	Missense	Amino acid substitution	CM002379
D02-38	Q	17	2970 del AAT ΔM991	In frame deletion	Amino acid deletion	CD931025
D05-72	Q	26	4402 A>G S1468G	Missense	Amino acid substitution	CM971049
D02-06	NF	2	92 A>G H31R	Missense	Amino acid substitution
D02-54	NF	3	288+5 G>C	Intronic	Truncated protein
D02-48	NF	4a	434 T>C L145P	Missense	Amino acid substitution
D05-34	Q	4b	528 T>A D176E	Missense	Amino acid substitution
D05-25	NF	6	846 G>A Q282Q	Same sense	Truncated protein
D02-39	NF	6	846 G>A Q282Q	Same sense	Truncated protein
D05-71	NF	7	1010 A>T E337V	Missense	Amino acid substitution
D05-60	NF	7	970 T>C C324R	Missense	Amino acid substitution
D02-18	NF	10b	1466 A>G Y489C	Missense	Amino acid substitution
D05-39	NF	10b	1466 A>G Y489C	Missense	Amino acid substitution
D02-50	NF	10b	1466 A>G Y489C	Missense	Amino acid substitution
D02-10	NF	10c	1595 T>C L532P	Missense	Amino acid substitution
D02-15	NF	12a	1722 C>A S574R	Missense	Truncated protein
D05-64	NF	13	2040 C>T C680C	Same sense	Truncated protein
D05-58	NF	16	2514 C>G I838M, 2531 T>C L844P	Missense	Amino acid substitution
D02-08	NF	16	2531 T>C L844P	Missense	Amino acid substitution
D04-12	NF	16	2617 C>T R873C	Missense	Amino acid substitution		Y
D02-05	NF	18	3113+3 ins A	Intronic	Truncated protein
D02-52	Q	19b	3217 A>G M1073V	Missense	Amino acid substitution
D05-85	Q	21	3587 T>G L1196R	Missense	Amino acid substitution
D05-42	NF	22	3826 C>G R1276G	Missense	Amino acid substitution		Y
D05-56	NF	22	3826 C>G R1276G	Missense	Amino acid substitution		Y
D05-19	NF	22	3827 G>A R1276Q	Missense	Amino acid substitution		Y
D05-27	NF	22	3827 G>A R1276Q	Missense	Amino acid substitution		Y
D04-21	NF	24	4111-8 del GTT	Intronic	Truncated protein
D05-33	Q	24	4255 A>G K1419E	Missense	Amino acid substitution
D02-27	NF	25	4312 del GAAΔE1438	In frame deletion	Amino acid deletion
D05-75	NF	28	4973 del 6 ΔIY1658-9	In frame deletion	Amino acid deletion
D02-69	NF	28	5172 G>A K1724K	Same sense	Truncated protein
D05-91	NF	29	5427 C>T R1808R	Same sense	Truncated protein
D02-14	NF	39	7096 del 6 ΔNF2366-7	In frame deletion	Amino acid deletion