Table 1 Clinical and molecular characteristics of male patients and female mutation carriers referred for methylation study
Sample ID | Sex | Age (years) | Disease status | Mutation | Cohort |
|---|---|---|---|---|---|
3694a | M | 28 | Patient | c.4439_4440delAG; p.R1481GfsX9 | Discovery/training |
3695a | M | 26 | Patient | c.4439_4440delAG; p.R1481GfsX9 | Discovery/training |
3696a | F | 51 | Carrier | c.4439_4440delAG; p.R1481GfsX9 | Training |
12551D | F | 55 | Carrier | c.229G>A; p.A77T | Training |
cms6013 | M | 37 | Patient | c.229G>A; p.A77T | Testing |
cms13123A | F | 66 | Carrier | c.229G>A; p.A77T | Testing |
cms13755 | M | 13 | Patient | c.229G>A; p.A77T | Discovery/training |
cms13756 | F | 17 | Carrier | c.229G>A; p.A77T | Testing |
cms13757 | F | 39 | Carrier | c.229G>A; p.A77T | Training |
cms1179 | F | 54 | Carrier | c.1510G>A; p.V504M | Training |
cms1180 | M | 30 | Patient | c.1510G>A; p.V504M | Discovery/training |
cms1181 | M | 26 | Patient | c.1510G>A; p.V504M | Testing |
cms1224 | F | 54 | Carrier | c.1510G>A; p.V504M | Training |
cms1242 | M | 8 | Patient | c.1510G>A; p.V504M | Discovery/training |
cms1243 | F | 31 | Carrier | c.1510G>A; p.V504M | Training |
cms13185 | M | 2 | Patient | c.1439C>T; p.P480L | Discovery/training |
cms13186 | M | 6 | Patient | c.1439C>T; p.P480L | Testing |
cms4919B | M | 42 | Patient | c.1583+5G>A; p.E468GfsX2 | Discovery/training |