Table 2 Overlapping CNTNAP2 variants for the transcript NM_014141 positioned on chromosome 7 across multiple whole-exome sequence datasets for the current investigation
Chromosomal position | Ref/alt | Amino acid change | Confidence in accuracy and effect of mutation (in %) | dbSNP ID | No. of cases (in %) | Read depth | EXAC Freq | GERP+ Rank score | Protein domain |
|---|---|---|---|---|---|---|---|---|---|
Chr7: 147183121 | A/C | exon11:c.A1765C:p.T589P | 87 | rs200239604 | 86.49 (192) | 127 | 0.216 | 0.947 | EGF-like |
Chr7: 147,926,842 | A/C | exon20:c.A3352C:p.T1118P | 87 | rs756906673 | 34.23 (76) | 210 | 0.0271 | 0.917 | Laminin G |
Chr7: 147,674,989 | A/C | exon15:c.A2291C:p.H764P | 76 | rs762457071 | 3.6 (8) | 120 | 0.0108 | 0.775 | . |
Chr7: 146,818,170 | G/C | exon6:c.G854C:p.G285A | 72 | rs150918383 | 1.35 (3) | 76 | 0.0053 | 0.927 | Laminin G |
Chr7: 147,183,118 | G/C | exon11:c.G1762C:p.A588P | 72 | rs757030387 | 0.90 (2) | 83 | 0.0005 | 0.658 | EGF-like |
Chr7: 146,536,994 | T/G | exon3:c.T400G:p.W134G | 61 | rs139694086 | 0.45 (1) | 151 | 0.0002 | 0.893 | Coagulation factor 5/8 C-terminal |
Chr7: 146,741,012 | A/G | exon4:c.A416G:p.N139S | 62 (neutralized) | rs370517200 | 92 | 1.65E-05 | 0.769 | Coagulation factor 5/8 C-terminal | |
Chr7: 146,741,075 | G/A | exon4:c.G479A:p.R160H | 63 (neutralized) | rs138738227 | 63 | 0.0005 | 0.803 | Coagulation factor 5/8 C-terminal | |
chr7:147815318 | C/G | exon16:c.C2492G:p.T831S | 83 (neutralized) | . | 26 | 8.25E-06 | 0.904 | Laminin G |