Genename |
Variants |
AXIN1(NM_003502,axin 1,862aa) |
g.16:338166C>T,c.2545G>A,p.V849I |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179504043C>G,c.2977C>G,p.Q993E |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179504040C>G,c.2974C>G,p.Q992E |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179504037G>C,c.2971G>C,p.E991Q |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179504035_179504040del,c.2969_2974del,p.990_992del |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179504026_179504028del,c.2960_2962del,p.987_988del |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179502988T>C,c.2774T>C,p.I925T |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179494574G>A,c.2602G>A,p.A868T |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179478525G>A,c.2483G>A,p.R828Q |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179478524C>T,c.2482C>T,p.R828W |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179462067A>G,c.2369A>G,p.Y790C |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179460806C>T,c.2225C>T,p.A742V |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179460778A>G,c.2197A>G,p.S733G |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179437753G>C,c.1974G>C,p.Q658H |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179437659C>T,c.1880C>T,p.T627M |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179414294C>A,c.1753C>A,p.Q585K |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179414226G>A,c.1685G>A,p.R562Q |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179414105A>C,c.1564A>C,p.I522L |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179398726A>G,c.1304A>G,p.K435R |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179380297C>A,c.1126C>A,p.H376N |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179363143G>T,c.969G>T,p.L323F |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179354495G>T,c.863+1G>T,p.288Donor |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179354440T>C,c.809T>C,p.I270T |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179352648T>A,c.710T>A,p.V237E |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179347852G>A,c.455G>A,p.R152H |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179338046C>T,c.209C>T,p.A70V |
AXDND1(NM_144696,axonemal dynein light chain domain containing 1,1012aa) |
g.1:179337965T>C,c.128T>C,p.M43T |
AWAT2(NM_001002254,acyl-CoA wax alcohol acyltransferase 2,333aa) |
g.X:69263514T>C,c.286A>G,p.I96V |