CHED Case familial (F) and sporadic (N) | SLC4A11 variations identified (cDNA position) | variations identified (Protein position) | Exon/intron location | Chromosomal location | Zygosity of each individual | ACMG variants classification* | Literature status |
---|---|---|---|---|---|---|---|
#Family-1 (F1) (No. of affected = 3) | c.1514C > G | p.Ser489Trp | Ex.12 | 20:3,230,258 | F1a-Hom F1b-Hom F1c-Hom Father-Het Mother-Het | Pathogenic | Not Reported |
Family-2 (F2) (No. of affected = 2) | c.529A > C + c.2461insT | p.Arg161Arg + p.Val805fs | Ex.4 + Ex.17 | 20:3,234,173 + 20:3,228,535 | F2a-Com.Het F2b-Com.Het | Pathogenic | pArg161Arg –Reported [29, 30] p.Val805fs Not Reported |
Sporadic N1 | c.1487G > T | p.Ser480Ile | Ex.11 | 20:3,230,535 | N1-Hom | Uncertain significance | Not reported |
N2 | c.2653C > T | p.Arg869Cys | Ex.18 | 20:3,228,260 | N3-Hom | Likely pathogenic | Reported |
N3 | c.620-2A > G | Splice variant | Int.4 | 20:3,233,991 | N2-Hom | Pathogenic | Not Reported |