Genename |
Variants |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220098859A>C,c.1053A>C,p.E351D |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220098596G>A,c.979G>A,p.A327T |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220098506C>T,c.889C>T,p.R297C |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220098151A>G,c.815A>G,p.Y272C |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220097864G>A,c.622G>A,p.V208M |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220097337C>T,c.490C>T,p.R164X |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220097286G>A,c.439G>A,p.E147K |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220097257G>C,c.410G>C,p.S137T |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220096678A>C,c.177A>C,p.R59S |
ANKZF1(NM_018089,ankyrin repeat and zinc finger domain containing 1,726aa) |
g.2:220096674A>C,c.173A>C,p.E58A |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149508669G>A,c.133C>T,p.R45W |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149498155del,c.322del,p.108fs |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149498097T>C,c.380A>G,p.Y127C |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149498089G>A,c.388C>T,p.R130X |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149498054G>T,c.423C>A,p.N141K |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485766C>T,c.683G>A,p.R228Q |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485625T>C,c.824A>G,p.Q275R |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485580A>G,c.869T>C,p.V290A |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485531A>C,c.918T>G,p.I306M |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485494A>G,c.955T>C,p.W319R |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485293T>C,c.1156A>G,p.S386G |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485125T>A,c.1324A>T,p.K442X |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149485104C>T,c.1345G>A,p.V449I |
ANKUB1(NM_001144960,ankyrin repeat and ubiquitin domain containing 1,544aa) |
g.3:149479317C>T,c.1589G>A,p.R530Q |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101552824G>A,c.424C>T,p.R142W |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101552716C>T,c.532G>A,p.E178K |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101552590C>T,c.658G>A,p.A220T |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101552584G>A,c.664C>T,p.R222W |