Genename |
Variants |
CAB39L(NM_030925,calcium binding protein 39-like,337aa) |
g.13:49925022C>T,c.422G>A,p.R141H |
CAB39L(NM_030925,calcium binding protein 39-like,337aa) |
g.13:49924972T>C,c.472A>G,p.I158V |
CAB39L(NM_030925,calcium binding protein 39-like,337aa) |
g.13:49906201C>T,c.716G>A,p.R239H |
CAAP1(NM_001167575,caspase activity and apoptosis inhibitor 1,216aa) |
g.9:26884809G>C,c.229C>G,p.Q77E |
CAAP1(NM_001167575,caspase activity and apoptosis inhibitor 1,216aa) |
g.9:26861106C>T,c.262G>A,p.V88M |
CAAP1(NM_001167575,caspase activity and apoptosis inhibitor 1,216aa) |
g.9:26842442C>T,c.508G>A,p.E170K |
CAAP1(NM_001167575,caspase activity and apoptosis inhibitor 1,216aa) |
g.9:26842412G>A,c.538C>T,p.P180S |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35679911C>T,c.1126C>T,p.R376X |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35679251A>G,c.977A>G,p.Q326R |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35675799C>A,c.475C>A,p.R159S |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35674347A>T,c.391A>T,p.R131W |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35674305G>A,c.349G>A,p.E117K |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35674191G>A,c.235G>A,p.G79R |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35674191_35674208del,c.235_252del,p.79_84del |
CA9(NM_001216,carbonic anhydrase IX,459aa) |
g.9:35674053G>A,c.97G>A,p.V33M |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9019056G>A,c.496G>A,p.V166I |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9017204A>G,c.268A>G,p.S90G |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9009451G>C,c.209G>C,p.G70A |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9009444A>C,c.202A>C,p.M68L |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9009414C>T,c.172C>T,p.R58W |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9009411G>T,c.169G>T,p.V57L |
CA6(NM_001215,carbonic anhydrase VI,308aa) |
g.1:9009406C>T,c.164C>T,p.T55M |
CA5B(NM_007220,carbonic anhydrase VB, mitochondrial,317aa) |
g.X:15800711G>T,c.878G>T,p.R293L |
CA5B(NM_007220,carbonic anhydrase VB, mitochondrial,317aa) |
g.X:15793420A>G,c.607A>G,p.I203V |
CA5B(NM_007220,carbonic anhydrase VB, mitochondrial,317aa) |
g.X:15790685T>C,c.407T>C,p.I136T |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87970019G>A,c.38C>T,p.S13F |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87969922A>T,c.135T>A,p.N45K |
CA5A(NM_001739,carbonic anhydrase VA, mitochondrial,305aa) |
g.16:87969919G>T,c.138C>A,p.N46K |