Genename |
Variants |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87960522C>T,c.172G>A,p.V58M |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87960450G>T,c.244C>A,p.P82T |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87936089T>C,c.497A>G,p.N166S |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87936072C>T,c.514G>A,p.V172M |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87925550G>A,c.629C>T,p.A210V |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87925466G>A,c.713C>T,p.P238L |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87925430T>C,c.749A>G,p.E250G |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87921865C>T,c.788G>A,p.R263H |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58236769C>A,c.923C>A,p.A308D |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58236715C>T,c.869C>T,p.P290L |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58236646A>G,c.800A>G,p.K267R |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58235763G>A,c.700G>A,p.V234I |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58235439C>A,c.531C>A,p.N177K |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58235051A>T,c.415A>T,p.M139L |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58234877G>A,c.358G>A,p.D120N |
CA4(NM_000717,carbonic anhydrase IV,312aa) |
g.17:58234013C>T,c.205C>T,p.R69C |
CA3(NM_005181,carbonic anhydrase III, muscle specific,260aa) |
g.8:86360347A>G,c.748A>G,p.I250V |
CA3(NM_005181,carbonic anhydrase III, muscle specific,260aa) |
g.8:86356339T>C,c.428T>C,p.I143T |
CA3(NM_005181,carbonic anhydrase III, muscle specific,260aa) |
g.8:86351997G>A,c.91G>A,p.V31I |
CA2(NM_000067,carbonic anhydrase II,260aa) |
g.8:86392912G>A,c.677G>A,p.R226H |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86250646C>T,c.70G>A,p.A24T |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86249176C>T,c.352G>A,p.E118K |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86245843C>T,c.361G>A,p.V121I |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86245776G>A,c.428C>T,p.A143V |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86244781C>T,c.451G>A,p.V151I |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86244732G>A,c.500C>T,p.A167V |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86242031G>A,c.556C>T,p.L186F |
CA1(NM_001128830,carbonic anhydrase I,261aa) |
g.8:86242000G>A,c.587C>T,p.P196L |