| Genename | Variants |
|---|---|
| ATE1(NM_001001976,arginyltransferase 1,518aa) | g.10:123670505G>A,c.499C>T,p.L167F |
| ATE1(NM_001001976,arginyltransferase 1,518aa) | g.10:123670442C>A,c.562G>T,p.V188F |
| ATE1(NM_001001976,arginyltransferase 1,518aa) | g.10:123596282T>C,c.1208A>G,p.Y403C |
| ATE1(NM_001001976,arginyltransferase 1,518aa) | g.10:123549738G>C,c.1324C>G,p.L442V |
| ATCAY(NM_033064,ataxia, cerebellar, Cayman type,371aa) | g.19:3907815G>A,c.442G>A,p.A148T |
| ATCAY(NM_033064,ataxia, cerebellar, Cayman type,371aa) | g.19:3907767G>A,c.394G>A,p.G132R |
| ATCAY(NM_033064,ataxia, cerebellar, Cayman type,371aa) | g.19:3907743G>A,c.370G>A,p.V124M |
| ATAT1(NM_024909,alpha tubulin acetyltransferase 1,333aa) | g.6:30610758G>T,c.938G>T,p.G313V |
| ATAT1(NM_024909,alpha tubulin acetyltransferase 1,333aa) | g.6:30610596G>A,c.776G>A,p.R259H |
| ATAT1(NM_024909,alpha tubulin acetyltransferase 1,333aa) | g.6:30596142C>T,c.472C>T,p.R158X |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29221140T>C,c.5269T>C,p.Y1757H |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29221129G>A,c.5258G>A,p.R1753H |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29219708C>T,c.4342C>T,p.R1448C |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29219640A>G,c.4274A>G,p.N1425S |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29214387T>C,c.4255T>C,p.Y1419H |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29214360G>A,c.4228G>A,p.V1410I |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29214283C>A,c.4151C>A,p.T1384N |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29205072T>C,c.3970T>C,p.F1324L |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29203520A>C,c.3736A>C,p.K1246Q |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29187463A>T,c.2969A>T,p.D990V |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29171894_29171895insA,c.2410_2411insA,p.804fs |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29171026A>T,c.2337A>T,p.K779N |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29167653A>C,c.2095A>C,p.N699H |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29162598C>T,c.1499C>T,p.T500I |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29162094C>T,c.995C>T,p.P332L |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29162018G>A,c.919G>A,p.E307K |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29161991G>A,c.892G>A,p.E298K |
| ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) | g.17:29161960G>T,c.861G>T,p.M287I |