NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)Pathogenic
Hereditary spherocytosis type 4|Hereditary spherocytosis type 4;Autosomal dominant distal renal tubular acidosis|not provided
β
β
ββ2026β Residue 808
NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)Pathogenic
not provided
β
β
ββ2026β Residue 492
NM_000342.4(SLC4A1):c.695-2A>GLikely pathogenic
not provided
β
β
ββ2026
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)Pathogenic
Hereditary spherocytosis type 4|Renal tubular acidosis, distal, 4, with hemolytic anemia|not provided|11 conditions|Inborn genetic diseases
β
β
ββ2026β Residue 488
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)Pathogenic
Hereditary spherocytosis type 4|not provided
β
β
ββ2026β Residue 304
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)Pathogenic
Hereditary spherocytosis type 4|not provided|11 conditions
β
β
ββ2025β Residue 760
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)Pathogenic
Southeast Asian ovalocytosis|Malaria, cerebral, resistance to|not provided|11 conditions|Renal tubular acidosis, distal, 4, with hemolytic anemia|Distal renal tubular acidosis
β
β
ββ2025β Residue 400
NM_000342.4(SLC4A1):c.349+1G>CLikely pathogenic
not provided|11 conditions
β
β
ββ2025
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)Pathogenic
Renal tubular acidosis, distal, 4, with hemolytic anemia|not provided|11 conditions|SLC4A1-related disorder|Autosomal dominant distal renal tubular acidosis
β
β
ββ2025β Residue 701
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His)Pathogenic
not provided|Hereditary spherocytosis type 4
β
β
ββ2025β Residue 490
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)Pathogenic
not provided|11 conditions|Hereditary spherocytosis type 4
β
β
ββ2025β Residue 344
NM_000342.4(SLC4A1):c.2057+1G>APathogenic
not provided
β
β
ββ2025
NM_000342.4(SLC4A1):c.336_337del (p.Arg112fs)Pathogenic
not provided
β
β
ββ2025β Residue 112
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys)Pathogenic
not provided
β
β
ββ2025β Residue 808
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)Pathogenic
11 conditions|not provided
β
β
ββ2025β Residue 414
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)Pathogenic
not provided|Renal tubular acidosis|Southeast Asian ovalocytosis|Autosomal dominant distal renal tubular acidosis|11 conditions|Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia
β
β
ββ2025β Residue 609
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)Pathogenic
not provided|Autosomal dominant distal renal tubular acidosis;Renal tubular acidosis, distal, 4, with hemolytic anemia
β
β
ββ2025β Residue 723
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)Pathogenic
not provided|Hereditary spherocytosis type 4|SLC4A1-related disorder
β
β
ββ2025β Residue 490
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)Pathogenic
Hereditary spherocytosis type 4|not provided
β
β
ββ2025β Residue 870
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)Pathogenic
Autosomal dominant distal renal tubular acidosis|not provided|11 conditions|Renal tubular acidosis|Renal tubular acidosis, distal, 4, with hemolytic anemia;Autosomal dominant distal renal tubular acidosis|Cryohydrocytosis
β
β
ββ2025β Residue 589