Table 2 Overview of mutations identified in EXOSC3
Allele A | Allele B | Reference |
|---|---|---|
p.G31A (c.92G > C) | p.G31A (c.92G > C) | |
p.G31A (c.92G > C) | p.W238R (c.712 T > C) | |
p.D132A (c.395A > C) | p.D132A (c.395A > C) | |
p.D132A (c.395A > C) | start codon affected (c.2 T > C) | [7] |
p.D132A (c.395A > C) | p.P52Rfs*2 (c.155delC) | [7] |
p.D132A (c.395A > C) | p.D76Gfs*49 (c.226dupG) | [7] |
p.D132A (c.395A > C) | p.V80F (c.238G > T) | [2] |
p.D132A (c.395A > C) | p.V99Wfs*11 (c.294_303del) | [6] |
p.D132A (c.395A > C) | p.Y109N (c.325 T > A) | This paper |
p.D132A (c.395A > C) | p.P111*; p.V112I (c.325-4_329dupGTAGTATGT; c. 334G > A) | This paper |
p.D132A (c.395A > C) | p.A139P (c.415G > C) | [6] |
p.D132A (c.395A > C) | exon 3 skipping (c.475-12A > G) | |
p.D132A (c.395A > C) | p.C184Lfs*19 (c.551delG) | [7] |
p.D132A (c.395A > C) | p.L248* (c.743_749delinsA) | This paper |
p.D132A (c.395A > C) | deletion exon 1–3 (g.del37781240-37787410) | This paper |
p.G135E (c.404G > A) | p.G135E (c.404G > A) | This paper |