Table 2 List of PIK3CA gene mutations and their annotation with COSMIC database
Sr. No. | gDNA Position | cDNA Position | Exon number | aaChange | Variant classification | Genomic Mutation ID | Tissue distribution (top 2) |
|---|---|---|---|---|---|---|---|
1. | Chr3:g.179204576G > A | c.G1133A | Exon5 | p.C378Y | Missense mutation | COSV55952006 | Breast, Endometrium |
2. | Chr3:g.179218294G > A | c.G1624A | Exon9 | p.E542K | Missense mutation | COSV55873227 | Breast, Large intestine |
3. | Chr3:g.179,218,306 C > A | c.C1636A | Exon9 | p.Q546K | Missense mutation | COSV55873527 | Large intestine, Breast |
4. | Chr3:g.179,218,331 A > T | c.A1661T | Exon9 | p.H554L | Missense mutation | Not reported |  |
5. | Chr3:g.179219709T > C | c.T1885C | Exon11 | p.S629P | Missense mutation | Not reported |  |
6. | Chr3:g.179230039G > T | c.G2702T | Exon18 | p.C901F | Missense mutation | COSV55881149 | Breast, Endometrium |
7. | Chr3:g.179234286G > A | c.G3129A | Exon20 | p.M1043I | Missense mutation | COSV55873376 | Breast, Endometrium |
8. | Chr3:g.173,234,297 A > G | c.A3140G | Exon20 | p.H1047R | Missense mutation | COSV55873195 | Breast, Large intestine |
9. | Chr3:g.179,234,297 A > T | c.A3140T | Exon20 | p.H1047L | Missense mutation | COSV55873401 | Breast, Large intestine |