Table 1.
The clinical features of CRY2 SNPs
| Position in CDS (NM_021117.4) | Position in protein (NM_021117.4) | ACMG | gnomAD | ClinVar |
|---|---|---|---|---|
| c.86G>A | p.Arg29His | VUS (PM2, PP3) | Not detected | — |
| c.368C>T | p.Pro123Leu | VUS (PM2, PP3) | Not detected | — |
| c.484G>T | p.Gly162Trp | VUS (PM2, PP3) | Not detected | — |
| c.823C>T | p.Arg275Cys | VUS (PM2, PP3) | Not detected | — |
| c.833G>A | p.Cys278Tyr | VUS (PM2, PP3) | Not detected | — |
| c.838T>A | p.Ser280Thr | VUS (PM2, PP3) | Not detected | — |
| c.839C>G | p.Ser280Cys | VUS (PM2, PP3) | Not detected | — |
| c.848T>C | p.Leu283Pro | VUS (PM2, PP3) | Not detected | — |
| c.1074G>C | p.Trp358Cys | VUS (PM2, PP3) | Not detected | — |
| c.1138G>A | p.Val380Met | VUS (PM2, PP3) | ƒ = 0.000003991 | — |
| c.1139T>G | p.Val380Gly | VUS (PM2, PP3) | Not detected | — |
| c.1216G>C | p.Asp406His | VUS (PM2, PP3) | Not detected | — |
| c.1229G>T | p.Ser410Ile | VUS (PM2, PP3) | Not detected | — |
| c.1259C>T | p.Ser420Phe | VUS (PM2, PP3) | Not detected | — |
| c.1319G>A | p.Arg440His | VUS (PM2, PP3) | ƒ = 0.000003991 | — |
Abbreviations: ACMG, American College of Medical Genetics and Genomics; CDS, coding sequence; VUS, variant of uncertain significance.