Sample | Status | All changes in H1RNA† | ||||
---|---|---|---|---|---|---|
Nt −18 | Nt −8 | Nt −7 | Nt 129 | Other | ||
†H1RNA sequence in X16612 was used as a reference. | ||||||
SMC1 | Patient | A/G | — | — | — | — |
SMC3 | Patient | A/G | — | C/G | — | — |
Father of SMC3 | A/G | — | — | — | — | |
SMC4 | Patient | A/G | T/C | C/G | G/A | — |
Mother of SMC4 | G/G | T/C | — | G/A | — | |
Father of SMC4 | A/G | T/C | C/G | — | ||
SMC11 | Patient | G/G | T/C | — | G/A | — |
SMC12 | Patient | — | — | — | Wild type | |
Father of SMC12 | A/G | — | — | — | — | |
Mother of SMC12 | — | — | C/G | — | — | |
SMC15 | Patient | — | C/T | — | — | |
SMC20 | Patient | A/G | — | — | — | — |
SMC23 | Patient | — | — | — | Wild type | |
SMC29 | Patient | A/G | T/C | — | G/A | — |
SMC32 | Patient | G/G | T/C | — | — | A/G at −34, C/T at −9 |
SMC33 | Patient | A/G | — | — | — | — |
SMC34 | Patient | A/G | — | C/G | — | — |
SMC40 | Patient | — | C/G | — | — | |
SMC41 | Patient | A/G | — | — | — | |
SMC42 | Patient | A/G | T/C | — | — | A/G at −34, C/T at −9 |
SMC44 | Patient | A/G | T/C | — | G/A | |
SMC45 | Patient | T/C | — | G/A | G/G at −34 | |
SMC46 | Patient | A/G | — | — | — | — |
SMC47 | Patient | — | — | — | wt | |
SMC48 | Patient | G/G | — | — | — | |
Controls | — | A/G 39/11 | T/C 44/6 | C/G/T 44/6/0 | G/A 116/7 | — |