| Genename | Variants |
|---|---|
| ATL1(NM_001127713,atlastin GTPase 1,553aa) | g.14:51057682C>A,c.306C>A,p.D102E |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216214339C>G,c.1740C>G,p.I580M |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216213947G>A,c.1634G>A,p.R545Q |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216211627A>G,c.1466A>G,p.N489S |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216211572C>T,c.1411C>T,p.P471S |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216211571T>A,c.1410T>A,p.H470Q |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216209508G>A,c.1234G>A,p.E412K |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216199674G>A,c.955G>A,p.V319I |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216191608A>G,c.595A>G,p.K199E |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216191586T>G,c.573T>G,p.D191E |
| ATIC(NM_004044,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,592aa) | g.2:216190020C>G,c.347C>G,p.T116S |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:294727C>T,c.2192C>T,p.T731I |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:294670C>T,c.2135C>T,p.P712L |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:294607C>T,c.2072C>T,p.P691L |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:294409G>C,c.1951G>C,p.A651P |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:294376G>A,c.1918G>A,p.E640K |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:294187C>T,c.1799C>T,p.T600M |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:293914G>A,c.1699G>A,p.E567K |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:293689G>A,c.1576G>A,p.E526K |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:292962A>C,c.1235A>C,p.E412A |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:292627G>A,c.1108G>A,p.V370I |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:292043G>A,c.974G>A,p.R325H |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:291992C>T,c.923C>T,p.P308L |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:290965G>A,c.758G>A,p.R253H |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:290494C>T,c.364C>T,p.R122C |
| ATHL1(NM_025092,ATH1, acid trehalase-like 1 (yeast),737aa) | g.11:290426G>A,c.296G>A,p.R99Q |
| ATG9A(NM_001077198,autophagy related 9A,839aa) | g.2:220092519A>C,c.120T>G,p.I40M |
| ATG9A(NM_001077198,autophagy related 9A,839aa) | g.2:220089381C>T,c.712G>A,p.G238R |