NM_001022.4(RPS19):c.48_49del (p.Arg16fs)Pathogenic
Diamond-Blackfan anemia 1|Diamond-Blackfan anemia
β
β
ββ2026β Residue 16
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)Pathogenic
Diamond-Blackfan anemia 1|not provided|Diamond-Blackfan anemia
β
β
ββ2025β Residue 94
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)Pathogenic
Diamond-Blackfan anemia|not provided|Diamond-Blackfan anemia 1
β
β
ββ2025β Residue 32
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)Pathogenic
Diamond-Blackfan anemia 1|Diamond-Blackfan anemia
β
β
ββ2025β Residue 126
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)Pathogenic
Diamond-Blackfan anemia|not provided
β
β
ββ2025β Residue 130
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)Pathogenic
Diamond-Blackfan anemia 1|Diamond-Blackfan anemia
β
β
ββ2025β Residue 33
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)Pathogenic
Diamond-Blackfan anemia|not provided|RPS19-related disorder
β
β
ββ2025β Residue 62
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)Pathogenic
not provided|Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β
β
ββ2024β Residue 1
NM_001022.4(RPS19):c.302G>A (p.Arg101His)Pathogenic
not provided|Diamond-Blackfan anemia 1
β
β
ββ2024β Residue 101
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)Pathogenic
Diamond-Blackfan anemia 1|not provided|Diamond-Blackfan anemia|RPS19-related disorder
β
β
ββ2024β Residue 62
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)Pathogenic
Diamond-Blackfan anemia
β
β
ββ2024β Residue 1
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)Pathogenic
Diamond-Blackfan anemia
β
β
ββ2024β Residue 1
NM_001022.4(RPS19):c.412-2A>GPathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β
β
ββ2024
NM_001022.4(RPS19):c.385dup (p.Arg129fs)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β
β
ββ2024β Residue 129
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β
β
ββ2023β Residue 27
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)Pathogenic
not provided|Diamond-Blackfan anemia
β
β
ββ2023β Residue 136
NM_001022.4(RPS19):c.13dup (p.Thr5fs)Pathogenic
Diamond-Blackfan anemia
β
β
ββ2019β Residue 5
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)Likely pathogenic
not provided|Diamond-Blackfan anemia
β
β
ββ2016β Residue 113
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)Pathogenic
Diamond-Blackfan anemia
β
βββ2026β Residue 18
NM_001022.4(RPS19):c.172+1G>ALikely pathogenic
Diamond-Blackfan anemia
β
βββ2025