Genename |
Variants |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101552442T>C,c.806A>G,p.K269R |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101546410C>T,c.937G>A,p.D313N |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101542517T>C,c.1322A>G,p.Q441R |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101540684T>C,c.1391A>G,p.N464S |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101540681C>T,c.1394G>A,p.R465Q |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101540645C>T,c.1430G>A,p.R477H |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101540510T>C,c.1565A>G,p.N522S |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101536290G>T,c.1690C>A,p.P564T |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101536214G>A,c.1766C>T,p.A589V |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101533220C>T,c.1930G>A,p.V644I |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101518761G>A,c.2267C>T,p.S756L |
ANKS6(NM_173551,ankyrin repeat and sterile alpha motif domain containing 6,871aa) |
g.9:101498824G>A,c.2593C>T,p.P865S |
ANKS4B(NM_145865,ankyrin repeat and sterile alpha motif domain containing 4B,417aa) |
g.16:21262047T>G,c.1160T>G,p.M387R |
ANKS4B(NM_145865,ankyrin repeat and sterile alpha motif domain containing 4B,417aa) |
g.16:21261924C>T,c.1037C>T,p.T346M |
ANKS4B(NM_145865,ankyrin repeat and sterile alpha motif domain containing 4B,417aa) |
g.16:21261569A>G,c.682A>G,p.R228G |
ANKS4B(NM_145865,ankyrin repeat and sterile alpha motif domain containing 4B,417aa) |
g.16:21261470G>A,c.583G>A,p.G195R |
ANKS4B(NM_145865,ankyrin repeat and sterile alpha motif domain containing 4B,417aa) |
g.16:21261455G>C,c.568G>C,p.A190P |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4774822A>C,c.502T>G,p.C168G |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4764162T>A,c.599A>T,p.H200L |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4764117A>C,c.644T>G,p.M215R |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4755206T>C,c.758A>G,p.Q253R |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4755153C>T,c.811G>A,p.A271T |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4755108G>A,c.856C>T,p.R286W |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4752228C>T,c.884G>A,p.R295H |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4751514G>A,c.1040C>T,p.P347L |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4751045C>T,c.1210G>A,p.A404T |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4748851C>T,c.1501G>A,p.A501T |
ANKS3(NM_133450,ankyrin repeat and sterile alpha motif domain containing 3,656aa) |
g.16:4748485C>T,c.1667G>A,p.R556Q |