NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)Pathogenic
Mitochondrial DNA depletion syndrome 1|not provided
β
β
ββ2026β Residue 38
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)Pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2026β Residue 289
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)Pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2026β Residue 145
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)Pathogenic
not provided|Mitochondrial neurogastrointestinal encephalomyopathy|Mitochondrial DNA depletion syndrome 1
β
β
ββ2026β Residue 315
NM_001953.5(TYMP):c.622G>A (p.Val208Met)Pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2026β Residue 208
NM_001953.5(TYMP):c.996_1026del (p.Ala333fs)Pathogenic
not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2026β Residue 333
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)Pathogenic
Mitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 400
NM_001953.5(TYMP):c.865_889dup (p.Ala297fs)Pathogenic
not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 297
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)Pathogenic
not provided|Mitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 3
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)Pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 108
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)Pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 153
NM_001953.5(TYMP):c.403del (p.Ala135fs)Pathogenic
not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 135
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)Pathogenic
Mitochondrial DNA depletion syndrome 1
β
β
ββ2025β Residue 350
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)Likely pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 222
NM_001953.5(TYMP):c.929-1G>APathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025
NM_001953.5(TYMP):c.418-1G>ALikely pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025
NM_001953.5(TYMP):c.215-1G>CPathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025
NM_001953.5(TYMP):c.1159+1G>APathogenic
Inborn genetic diseases|not provided|Mitochondrial DNA depletion syndrome 1
β
β
ββ2025
NM_001953.5(TYMP):c.199C>T (p.Gln67Ter)Pathogenic
not provided
β
β
ββ2025β Residue 67
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)Likely pathogenic
Mitochondrial DNA depletion syndrome 1|not provided|Mitochondrial neurogastrointestinal encephalomyopathy
β
β
ββ2025β Residue 114