Coverage depths and AFs of EFL1 variants
| Patient . | Variant in EFL1 . | Method . | Allele coverage depths . | AF in gnomAD . | |||
|---|---|---|---|---|---|---|---|
| Patient . | Mother . | Father . | Overall . | EA . | |||
| I-1 | p.Thr1069Ala (M) | WES | 10:64 (86.5) | 39:40 (50.1) | 33:0 (0) | 3.2 × 10−5 | 1.7 × 10−4 |
| Amplicon sequencing | 23 914:131 714 (84.6) | 63 582:63 954 (50.1) | 121 502:507 (0.4) | ||||
| p.Gly827 TrpfsTer13 (P) | WES | 22:2 (8.3) | 27:0 (0) | 9:14 (60.9) | 0 | 0 | |
| Amplicon sequencing | 243 610:43 042 (15.0) | 505 158:74 (0.01) | 221 532:218 976 (49.7) | ||||
| II-1 | p.Thr 1069Ala (U) | WES | 15:59 (79.7) | NA | NA | 3.2 × 10−5 | 1.7 × 10−4 |
| p.His30Arg (U) | WES | 127:22 (14.8) | NA | NA | 1.8 × 10−5 | 5.1 × 10−5 | |
| III-1 | p.Thr 1069Ala (P) | WES | 43:30 (41.1) | NA | NA | 3.2 × 10−5 | 1.7 × 10−4 |
| Amplicon sequencing | 135 196:149 160 (52.5) | 189 517:1786 (0.9) | 87 347:85 317 (49.4) | ||||
| p.His 30Arg (M) | WES | 74:43 (36.8) | N/A | NA | 1.8 × 10−5 | 5.1 × 10−5 | |
| Amplicon sequencing | 25 316:22 680 (47.3) | 119 382:121 508 (50.4) | 41 684:76 (0.2) | ||||
| Patient . | Variant in EFL1 . | Method . | Allele coverage depths . | AF in gnomAD . | |||
|---|---|---|---|---|---|---|---|
| Patient . | Mother . | Father . | Overall . | EA . | |||
| I-1 | p.Thr1069Ala (M) | WES | 10:64 (86.5) | 39:40 (50.1) | 33:0 (0) | 3.2 × 10−5 | 1.7 × 10−4 |
| Amplicon sequencing | 23 914:131 714 (84.6) | 63 582:63 954 (50.1) | 121 502:507 (0.4) | ||||
| p.Gly827 TrpfsTer13 (P) | WES | 22:2 (8.3) | 27:0 (0) | 9:14 (60.9) | 0 | 0 | |
| Amplicon sequencing | 243 610:43 042 (15.0) | 505 158:74 (0.01) | 221 532:218 976 (49.7) | ||||
| II-1 | p.Thr 1069Ala (U) | WES | 15:59 (79.7) | NA | NA | 3.2 × 10−5 | 1.7 × 10−4 |
| p.His30Arg (U) | WES | 127:22 (14.8) | NA | NA | 1.8 × 10−5 | 5.1 × 10−5 | |
| III-1 | p.Thr 1069Ala (P) | WES | 43:30 (41.1) | NA | NA | 3.2 × 10−5 | 1.7 × 10−4 |
| Amplicon sequencing | 135 196:149 160 (52.5) | 189 517:1786 (0.9) | 87 347:85 317 (49.4) | ||||
| p.His 30Arg (M) | WES | 74:43 (36.8) | N/A | NA | 1.8 × 10−5 | 5.1 × 10−5 | |
| Amplicon sequencing | 25 316:22 680 (47.3) | 119 382:121 508 (50.4) | 41 684:76 (0.2) | ||||
Data in “Allele coverage depths” column presented as ratio of reference allele/nonreference allele (% nonreference allele).
AF, allele frequency; M, maternal origin; NA, not available; P, paternal original; U, unknown origin.