Table 4 A summary of detected SNPs identified using BLAST alignment, and their nomenclature according to the HGVS criteria
Exon | Polymorphism nomenclature | Genetic position (chromosomal position) | Heterozygous/ Homozygous | Patients (n = 20) | Effect on coding | dbSNP id (publication) |
|---|---|---|---|---|---|---|
9 | NM_016341.4:c.3360 T > G | g.265282 T > G, 10:94,254,270-T/G | Heterozygous | 1/20(5%) | Non sense p.G1120G | New |
12 | NM_016341.4:c.3689G > A | g. g.270037 G > A, 10: 94,259,025-G/A | Heterozygous | 2/20(10%) | Missense p.R1230H | New |
15 | NM_016341.4:c.4177G > A, | g.276866 G > A, 10:94,265,854-G/A | Heterozygous | 1/20(5%) | Missense p.E1393K | New |
19 | NM_016341.4:c.4724 G > C | g.285852 G > C, 10: 94,279,840-G/C | Homozygous | 6/20(30%) | Missense p.R1575P | rs2274224 |
Heterozygous | 8/20(40%) | |||||
NM_016341.4:c.4795 + 40 C > T | g.290963 C > T, 10:94,279,951-C/T | Heterozygous | 7/20(35%) | Intronic | rs2274225 (unpublished) | |
27 | NM_016341.4:c.6004–36 G > C | g.324232 G > A, 10:94,313,220-G/A | Heterozygous | 5/20 (25%) | Intronic | rs759855980 (unpublished) |
NM_016341.4:c.6039 T > A, | g.324301 T > A, 10:94,313,289-T/A | Heterozygous | 1/20(5%) | Non sense p.T2013T | New |