Table 1 Information of NF1 pathogenic variants identified in 75 CPT cases
Sample ID | Exon position | Nucleotide Changea | Amino Acid Changea | ACMG Criteria | Novel / Known Variation | PMID Reported CPT |
|---|---|---|---|---|---|---|
71A | exon 4 | c.289C > T | p.(Gln97*) | Pathogenic | Novel |  |
17A | exon 5 | c.499_502del | p.(Cys167Glnfs*10) | Pathogenic | ClinVar | Â |
5A, 5B | exon 5 | c.503C > G | p.(Ser168*) | Pathogenic | ClinVar |  |
51A | exon 6 | c.643del | p.(Ser215Alafs*10) | Pathogenic | Novel | Â |
26A | exon 6 | c.654 + 1G > A |  | Pathogenic | Novel |  |
47A | exon 8 | c.731-2A > C |  | Pathogenic | Novel |  |
48A | exon 8 | c.786_787insTT | p.(Lys263Leufs*19) | Pathogenic | Novel | Â |
22A | exon 9 | c.1019_1020del | p.(Ser340Cysfs*12) | Pathogenic | Novel | Â |
44A, 45A | exon 11 | c.1198C > T | p.(Gln400*) | Pathogenic | Novel |  |
29A | exon 13 | c.1466A > G | p.(Tyr489Cys) | Pathogenic | ClinVarb | 23668869 |
6A | exon 14 | c.1603C > T | p.(Gln535*) | Pathogenic | Novel |  |
52A | exon 17 | c.1885G > A | p.(Gly629Arg) | Pathogenic | ClinVar |  |
23A | exon 17 | c.1992dup | p.(Ser665Leufs*5) | Pathogenic | Novel | Â |
36A | exon 18 | c.2019C > A | p.(Cys673*) | Pathogenic | Novel |  |
54A | exon 18 | c.2033dup | p.(Ile679Aspfs*21) | Pathogenic | Novel | Â |
24A | exon 18 | c.2044C > T | p.(Gln682*) | Pathogenic | Novel |  |
43A | exon 20 | c.2330G > C | p.(Trp777Ser) | Likely pathogenic | ClinVar |  |
74A | exon 22 | c.2947del | p.(Leu983*) | Pathogenic | Novel | Â |
37A, 75A | exon 23 | c.3113 + 1G > A |  | Pathogenic | ClinVar |  |
41A | exon 24 | c.3187_3188insTA | p.(Cys1063Leufs*15) | Pathogenic | Novel | Â |
18A | exon 28 | c.3712G > T | p.(Glu1238*) | Pathogenic | ClinVar |  |
72A | exon 29 | c.3916C > T | p.(Arg1306*) | Pathogenic | ClinVar |  |
59A | exon 35 | c.4600C > T | p.(Arg1534*) | Pathogenic | ClinVarb | 23668869 |
64A | exon 36 | c.4756_4772del | p.(Ala1586Tyrfs*30) | Pathogenic | Novel | Â |
27A | exon 37 | c.5046delinsGGTTAC | p.(Cys1682Trpfs*18) | Pathogenic | Novel | Â |
2A | exon 37 | c.5130del | p.(Cys1711Valfs*9) | Pathogenic | Novel | Â |
7A | exon 37 | c.5199dup | p.(Glu1734Argfs*23) | Pathogenic | Novel | Â |
31A | exon 38 | c.5392C > T | p.(Gln1798*) | Pathogenic | Novel |  |
55A | exon 39 | c.5697 T > A | p.(Cys1899*) | Pathogenic | Novel |  |
62A | exon 40 | c.5902C > T | p.(Arg1968*) | Pathogenic | ClinVarb | 24232412 |
3A | exon 40 | c.5980_5983del | p.(Ala1994Lysfs*17) | Pathogenic | Novel | Â |
39A | exon 42 | c.6401_6402del | p.(Cys2134Tyrfs*8) | Pathogenic | Novel | Â |
53A | exon 45 | c.6772C > T | p.(Arg2258*) | Pathogenic | ClinVar |  |
1A | exon 45 | c.6819 + 1_6825del |  | Pathogenic | Novel |  |
50A | exon 46 | c.6854dup | p.(Tyr2285*) | Pathogenic | ClinVar | Â |
4A | exon 48 | c.7159_7164del | p.(Asn2387_Phe2388del) | Pathogenic | Clinvarc | Â |
40A | exon 54 | c.7898del | p.(Glu2633Glyfs*11) | Pathogenic | Novel | Â |
56A | exon 54 | c.7909C > T | p.(Arg2637*) | Pathogenic | ClinVarb | 16773574 |
10A | exon 1–58 | c.-383_*3522del | p.0 | Pathogenic | ClinVar |  |
15A | exon 13–30 | c.1393_4110del | p.(Ser465_Gln1370del) | Pathogenic | Novel |  |
35A | exon 36–58 | c.4725_*3522del | p.? | Pathogenic | Novel |  |