Table 3.
Stability of the mutant allele
| Fragment analysis | MiSeq (VAF) | |||||
|---|---|---|---|---|---|---|
| Donor | RIND score | Ratio peak height (mutant/WT allele) | cDNA | cDNAp | gDNA | Evidence for NMD? |
| M01 c.1A > G | 3 | 0.7 (0.6–0.8) | 49 (42–55) | 52 (51–52) | 49 (49–49) | No |
| M02 c.1A > C | 2 | / | / | / | / | No |
| M03 c.212 + 3A > G | 2 | / | / | / | / | No |
| M04 c.1961del | 0 | 0.4 (0.4–0.4) | 29 (25–33) | 47 (43–51) | 47 (47–47) | Yes |
| M05 c.2359dup | 3 | 0.6 (0.6–0.6) | 28 (25–31) | 42 (38–45) | 48 (48–48) | Yes |
| M06 c.2359dup | 2 | 0.5 (0.5–0.5) | 24 (23–25) | 44 (41–47) | 50 (50–50) | Yes |
| M07 c.2359dup | 0 | 0.4 (0.4–0.5) | 29 (27–30) | 48 (30–67) | 57 (55–59) | Yes |
| M08 c.2359dup | 4 | / | / | / | / | Yes |
| M09 c.3331_3334del | 1 | 0.4 (0.4–0.4) | 25 (18–31) | 44 (34–48) | 49 (49–49) | Yes |
| M10 c.3481_3491del | 2 | 0.4 (0.4–0.4) | 23 (16–30) | 42 (28–52) | 39 (32–46)a | Yes |
| M11 c.3481_3491del | 1 | 0.4 (0.3–0.5) | 23 (16–32) | 41 (23–54) | 39 (34–44)a | Yes |
| M12 c.3481_3491del | 2 | 0.4 (0.4–0.4) | 26 (16–34) | 39 (28–50) | 42 (35–49)a | Yes |
| M13 c.3661G > T | 1 | 0.5 (0.3–0.6) | 29 (28–30) | 50 (41–57) | 50 (46–53) | Yes |
| M14 c.3661G > T | 0 | 0.4 (0.3–0.4) | 31 (29–32) | 52 (52–52) | 50 (50–50) | Yes |
| M15 c.3661G > T | 0 | / | / | / | / | Yes |
| M16 c.4327C > T | 3 | 0.5 (0.5–0.6) | 24 (21–27) | 51 (45–56) | / | Yes |
| M17 c.4327C > T | 3 | 0.6 (0.4–0.7) | 26 (21–30) | 48 (44–53) | 50 (50–50) | Yes |
| M18 c.4931_4393delinsTT | 0 | 0.4 (0.3–0.4) | 30 (28–31) | 37 (28–47) | 52 (52–52) | Yes |
cDNA complementary DNA, cDNAp cDNA extracted in the presence of puromycin, gDNA genomic DNA, NMD nonsense mediated decay, RIND radiosensitivity indicator, VAF variant allele frequency, WT wild type
aVAF <50 % for gDNA