Table 2 Genetic Findings of COLQ_CMS patients (NM_005677.4)
From: COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Patient ID | Variant; cDNA level | Variant; Protein level | Zygousity | ACMG classification |
|---|---|---|---|---|
P 1.1, P1.2 | c.1082del | p.Pro361LeufsTer65 | Hom | Pathogenic |
P 2 | †c.1132G > C | p.Gly378Arg | Hom | VUS |
P 3 | c.1257del | p.Ser420LeufsTer6 | Hom | Likely Pathogenic |
P 4 | c.211 C > T | p.Arg71Ter | Hom | Likely Pathogenic |
P 5.1, P5.2 | †c.1277 C > T | p.Thr426Ile | Hom | Pathogenic |
P 6 | †c.1196G > A | p.Arg399His | Hom | Pathogenic |
P 7.1, P7.2 | †c.815G > A | p.Gly272Glu | Hom | VUS |
P 8 | c.1026 C > G | p.Asp342Glu | Hom | Likely Pathogenic |
P 9.1, P9,2 | †c.1277 C > T | p.Thr426Ile | Hom | Pathogenic |
P 10 | †c.1076T > G | p.Leu359Arg | Hom | VUS |
P 11 | c.1082del | p.Pro361LeufsTer65 | Hom | Pathogenic |
P 12 | †c.1257del | p.Ser420LeufsTer6 | Hom | Likely Pathogenic |
P 13 | c.1082del | p.Pro361LeufsTer65 | Hom | Pathogenic |
P 14 | †c.188_321del | del ex 2–3 | Hom | Likely Pathogenic |
P 15 | c.679 C > T | p.Arg227Ter | Hom | Pathogenic |
P 16 | c.943 C > T | p.Arg315Ter | Hom | Pathogenic |
P17 | c.1281 C > T | p.Cys427= | Hom | Pathogenic |
P 18 | c.943 C > T | p.Arg315Ter | Hom | Pathogenic |
P 19 | †c.827_843del | p.Met276LysfsTer20 | Hom | likely Pathogenic |
P 20 | †c.1277 C > T | p.Thr426Ile | Hom | Pathogenic |
P 21 | †c.1196G > A | p.Arg399His | Hom | Pathogenic |
P 22 | c.1082del | p.Pro361LeufsTer65 | Hom | Pathogenic |