NM_003859.3(DPM1):c.1A>C (p.Met1Leu)Pathogenic
Congenital disorder of glycosylation type 1E|not provided
β
β
ββ2025β Residue 1
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)Pathogenic
Congenital disorder of glycosylation type 1E|not provided
β
β
ββ2025β Residue 152
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)Pathogenic
Congenital disorder of glycosylation type 1E|DPM1-related disorder|not provided
β
β
ββ2024β Residue 92
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)Pathogenic
Congenital disorder of glycosylation type 1E|Inborn genetic diseases|not provided
β
β
ββ2022β Residue 111
NM_003859.3(DPM1):c.371A>G (p.His124Arg)Likely pathogenic
Congenital disorder of glycosylation type 1E
β
β
ββ2021β Residue 124
NM_003859.3(DPM1):c.563+1G>ALikely pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2025
NM_003859.3(DPM1):c.225del (p.Glu76fs)Likely pathogenic
not provided
β
βββ2025β Residue 76
NM_003859.3(DPM1):c.564-1G>TPathogenic
Congenital disorder of glycosylation type 1E
β
βββ2024
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2024β Residue 191
NM_003859.3(DPM1):c.566T>A (p.Leu189Ter)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2024β Residue 189
NM_003859.3(DPM1):c.52del (p.Glu18fs)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2024β Residue 18
NM_003859.3(DPM1):c.182del (p.Ile61fs)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2023β Residue 61
NM_003859.3(DPM1):c.490_493del (p.Ile164fs)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2023β Residue 164
NM_003859.3(DPM1):c.495-1G>TLikely pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2022
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2022β Residue 176
NM_003859.3(DPM1):c.274C>T (p.Arg92Ter)Likely pathogenic
not provided
β
βββ2022β Residue 92
NM_003859.3(DPM1):c.566T>G (p.Leu189Ter)Likely pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2022β Residue 189
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)Likely pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2021β Residue 248
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)Pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2021β Residue 57
NC_000020.11:g.(?_50940845)_(50942146_?)delLikely pathogenic
Congenital disorder of glycosylation type 1E
β
βββ2021