Table 2.
NF1 Mutational profile of the 100 NF1 blood samples tested in NGS study
| Patient | Codinga | Amino Acid Change | Variant Effect | NM_000267.3 | SIFT | Polyphen2 |
|---|---|---|---|---|---|---|
| Wu p001 | c.492_495 del AACT/Het | p.Val166fs | Frameshift Deletion | Exon 5 | ||
| Wu p002 | c.5844C > A | p.Tyr1948Ter | nonsense | Exon 40 | ||
| Wu p003 | c.1466A > G, c.1400C > T, c.1448A > G, c.1513A > G | p.Tyr489Cys | missense | Exon 13 | Tolerated | Benign |
| Wu p004 | c.6855C > A | p.Tyr2285Ter | nonsense | Exon 46 | Tolerated | |
| Wu p006 | c.2982_2982delT | p.Leu995fs | Frameshift Deletion | Exon 22 | ||
| Wu p007 | c.1105C > T | p.Gln369Ter | nonsense | Exon 10 | Tolerated | |
| Wu p009 | c.7862_7862delC | p.Thr2621fs | Frameshift Deletion | Exon 54 | ||
| Wu p010 | c.5902C > T | p.Arg1968Ter | nonsense | Exon 40 | Tolerated | |
| Wup011 | c.7152_7157del TAACTT | p.2384_2386del | Deletion | Exon 49 | ||
| Wu p014 | c.3113 + 1 G > A | . | splicing | Exon 23 | ||
| Wu p015 | c.4700C > G | p.Ser1567Ter | nonsense | Exon 36 | Tolerated | |
| Wu p017 | c.487G > T | p.Glu163Ter | nonsense | Exon 5 | ||
| Wu p018 | c.6970C > T | p.Gln2324Ter | nonsense | Exon 47 | Damaging | |
| c.8386A > C | p.Lys2796Gln | missense | Exon 58 | Damaging | Possibly damaging | |
| c.8520 + 125 del C (Intron) | Frameshift Deletion | Exon 58 | ||||
| Wu p019 | c.575G > A | p.Arg192Gln | missense | Exon 5 | Tolerated | Benign |
| c.1422_1422delC | p.Lys476fs | Frameshift Deletion | Exon 13 | |||
| Wu p021 | c.1080_1083delAAGT | p.Lys362fs | Frameshift Deletion | Exon 10 | ||
| Wu p022 | c.1062G > C | p.Lys354Asn | missense | Exon 9 | Tolerated | Possibly damaging |
| Wu p023 | c.1062G > C | p.Lys354Asn | missense | Exon 9 | Tolerated | Possibly damaging |
| Wu p024 | c.1658A > C | p.His553Pro | missense | Exon 15 | D | Possibly damaging |
| Wu p025 | c.4316 T > A | p.Leu1439Ter | nonsense | Exon 32 | Tolerated | |
| Wu p027 | c.1754_1757delTAAC | p.Thr586fs | Frameshift Deletion | Exon 16 | ||
| Wu p030 | c.5665G > T | p.Glu1889Ter | nonsense | Exon 39 | Tolerated | |
| Wu p032 | c.2266C > T | p.Gln756Ter | nonsense | Exon 19 | Damaging | |
| Wu p033 | c.7348C > T | p.Arg2450Ter | nonsense | Exon 50 | Tolerated | |
| Wu p034 | c.910C > T | p.Arg304Ter | nonsense | Exon 9 | Tolerated | |
| Wu p035 | c.5580_5581insA | p.Asn1861fs | Frameshift Insertion | Exon 38 | ||
| Wu p038 | c.1246C > T | p.Arg416Ter | nonsense | Exon 11 | Tolerated | |
| Wu p039 | c.492_495 del AACT/He | p.Val166fs | Frameshift Deletion | Exon 5 | ||
| Wu p041 | c.910C > T | p.Arg304Ter | nonsense | Exon 9 | Tolerated | |
| Wu p043 | c. 3796 G > T | p.Glu1266Ter | nonsense | Exon28 | Tolerated | |
| Wu p044 | c.86_87delAC | p.29_29del | frameshift deletion | Exon2 | ||
| Wu p045 | c.6618_6618 delA | p.Thr2206fs | frameshift deletion | Exon43 | ||
| Wu p047 | c. 6818 A > C | p.Lys2273 Thr | missense | Exon46 | Tolerated | Possibly damaging |
| Wu p048 | c. 910 C > T | p.Arg304Ter | nonsense | Exon9 | Tolerated | |
| Wu p050 | c.2212dupT | p.Phe738fs | frameshift insertion | Exon18 | ||
| Wu p051 | c. 5170 C > T | p.Gln1724Ter | nonsense | Exon37 | Tolerated | |
| Wu p052 | c. 1224 T > A | p.Tyr408Ter | nonsense | Exon11 | Tolerated | |
| Wu p053 | c.7266_7267del AC | p.2422_2423del | frameshift deletion | Exon49 | ||
| Wu p054 | c. 574 C > T | p.Arg192Ter | nonsense | Exon5 | Tolerated | |
| Wu p055 | c. 574 C > T | p.Arg192Ter | nonsense | Exon5 | Tolerated | |
| Wu p058 | c. 3040 A > T | p.K1014Ter | nonsense | Exon23 | ||
| Wu p059 | c.288 + 1G > T | . | splicing | Exon3 | ||
| Wu p060 | c.4509dupT | p.Asn1503fs | frameshift insertion | Exon34 | ||
| Wu p064 | c. 479 G > T | p.Arg160Met | missense | Exon4 | Damaging | Possibly damaging |
| Wu p066 | c.1592delA | p.Gln531fs | frameshift deletion | Exon14 | ||
| Wu p067 | c.8070dupC | p.Tyr2690fs | frameshift insertion | Exon56 | ||
| Wu p068 | c.288 + 1G > T | . | splicing | Exon3 | ||
| Wu p070 | c.4990_4992AAA (GTT) | . | nonframeshift substitution | Exon37 | ||
| Wu p071 | c. 3826 C > T | p.Arg1276Ter | nonsense | Exon28 | Tolerated | |
| Wu p073 | c.2340_2346delACATGCA | p.780_782del | frameshift deletion | Exon20 | ||
| Wu p074 | c. 4107 C > A | p.Tyr1369Ter | nonsense | Exon30 | Tolerated | |
| Wu p075 | c. 5651 T > G | p.Phe1884Cys | missense | Exon39 | Damaging | Damaging |
| Wu p076 | c. 3888 T > G | p.Tyr1296Ter | nonsense | Exon29 | Tolerated | |
| Wu p077 | c. 3484 A > G | p.Met1162Val | missense | Exon26 | Tolerated | Benign |
| Wu p077 | c. 7189 G > A | p.Gly2397Arg | missense | Exon49 | Damaging | Damaging |
| Wu p080 | c. 1933 A > G | p.Met645Val | missense | Exon17 | Tolerated | Benign |
| Wu p081 | c.1754_1757del | p.Leu585fs | frameshift deletion | Exon16 | ||
| Wu p083 | c.2953dupC | p.Gly984fs | frameshift insertion | Exon22 | ||
| Wu p086 | c.6855C > A | p.Tyr2285Ter | nonsense | Exon46 | Tolerated | |
| Wu p087 | c. 4940 A > C | p.His1647Pro | missense | Exon37 | Tolerated | Damaging |
| Wu p088 | c.1754_1757del | p.Leu585fs | frameshift deletion | Exon16 | ||
| Wu p089 | c. 1466 A > G | p.Tyr489Cys | missense | Exon13 | Tolerated | Damaging |
| Wu p090 | c. 376 G > T | p.Glu126Ter | nonsense | Exon4 | Damaging | |
| Wu p092 | c. 3827 G > A | p.Arg1276Gln | missense | Exon28 | Damaging | |
| Wu p094 | c. 3796 G > T | p.Glu1266Ter | nonsense | Exon28 | Tolerated | Damaging |
| Wu p095 | c.1693dupG | p.Asp564fs | frameshift insertion | Exon15 | ||
| Wu p098 | c.1754_1757del | p.Leu585fs | frameshift deletion | Exon16 | ||
| Wu p100 | c. 1318 C > T | p.Arg440Ter | nonsense | Exon12 | Tolerated |
abold lettering indicated as novel variants