Table 2.
Genomic CRELD1 variants identified in this cohort
| GRCh37 (hg19) | Ref | Alt | Refseq (NM_015513.6) | Occurrence | Allele Frequency (gnomAD) | Consequence | CADD | REVEL | MetaSVM | SIFT | PolyPhen |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||
| 3:9976540dup | - | G | c.196dup, p.(Asp66Glyfs*22) | 1 | 1.61 × 10−5 | frameshift | . | . | |||
| 3:9976598_9976601del | ACAG | - | c.254_257del, p.(Asp85Valfs*6) | 2 | 0 | frameshift | . | . | |||
| 3:9982648 | G | A | c.575G>A, p.(Cys192Tyr) | 15a | 1.84 × 10−4 | missense | 28.3 | 0.692 | D | D (0) | Pr D (1.0) |
| 3:9984547 | T | C | c.784T>C, p.(Cys262Arg) | 1 | 0 | missense | 25.5 | 0.968 | D | D (0) | Pr D (1.0) |
| 3:9985110del | A | - | c.959del, p.(Gln320Argfs*25) | 7 | 2.97 × 10−4 | frameshift | . | . | |||
| 3:9986105 | A | G | c.1105A>G, p.(Met369Val) | 1 | 3.18 × 10−5 | missense | 20.5 | 0.301 | T | D (0.01) | B (0.05) |
| 3:9986128_9986129del | TG | - | c.1128_1129del, p.(Ala377Thrfs*7) | 6 | 2.47 × 10−5 | frameshift | . | . | |||
| 3:9986139 | C | T | c.1139C>T, p.(Thr380Met) | 1 | 2.39 × 10−5 | missense | 17.14 | 0.348 | T | D (0.05) | B (0.14) |
| 3:9986156 | G | A | c.1156 G>A, p.(Asp386Asn) | 1 | 0 | missense | 18.47 | 0.18 | T | D (0) | Pos D (0.58) |
| 3:9986171 | G | C | c.1171G>C, p.(Ala391Pro) | 1 | 0 | missense | 16.13 | 0.405 | T | D (0.01) | Pos D (0.81) |
B, benign; D, damaging/deleterious; gnomAD, The Genome Aggregation Database; Pos, possibly; Pr, probably; T, tolerated.
a
This represents 14 patients, with one being homozygous for p.(Cys192Tyr).