Table 4. List of SNPs including Gene ID, accession number, mutant allele frequency and haplotype details which were detected by high depth next generation sequencing and selected for further analysis.
| Gene | Accession Number | GMAF | R/MA Sub |
Haplotype | AA Change | Protein Domain |
|---|---|---|---|---|---|---|
| HER2 | rs1136201 | 0.1556 | A/G | 37879588 A>G | I655V | Transmembrane |
| HER3 | rs2229046 | 0.0495 | T/C | 56487201 T>C | I449I | Receptor L domain |
| HER3 | rs773123 | 0.0665 | T/A | 56494998 A>T | S1119C | No defined domain |
| RNF8 | rs2284922 | 0.4397 | C/T | 37349033 G>A | T448T | No defined domain |
| BARD1 | rs2070096 | 0.1903 | G/T | 215645545 C>A | T351T | No defined domain |
| BARD1 | rs2229571 | 0.4593 | G/C | 215645464 C>G | R378S | No defined domain |
GMAF = Global Minor Allele Frequency; R/MA = Reference/Minor Allele; AA = Amino Acid.