| Genename | Variants |
|---|---|
| ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) | g.1:63329766del,c.1313del,p.438fs |
| ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) | g.1:63307174C>T,c.1165C>T,p.R389X |
| ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) | g.1:63307160T>C,c.1151T>C,p.I384T |
| ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) | g.1:63307121A>G,c.1112A>G,p.K371R |
| ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) | g.1:63284898A>T,c.617A>T,p.D206V |
| ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) | g.1:63282324G>A,c.239G>A,p.R80H |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242610773T>A,c.1061T>A,p.L354Q |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242610172A>G,c.989A>G,p.N330S |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242606230G>A,c.709G>A,p.E237K |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242606219C>T,c.698C>T,p.T233M |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242606119G>A,c.598G>A,p.D200N |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242606080G>A,c.559G>A,p.V187I |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242593011G>A,c.269G>A,p.R90Q |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242590490G>A,c.76G>A,p.V26I |
| ATG4B(NM_178326,autophagy related 4B, cysteine peptidase,380aa) | g.2:242590437A>G,c.23A>G,p.Y8C |
| ATG4A(NM_052936,autophagy related 4A, cysteine peptidase,398aa) | g.X:107393490G>A,c.923G>A,p.R308Q |
| ATG4A(NM_052936,autophagy related 4A, cysteine peptidase,398aa) | g.X:107381188C>G,c.702C>G,p.N234K |
| ATG4A(NM_052936,autophagy related 4A, cysteine peptidase,398aa) | g.X:107380393A>C,c.540A>C,p.E180D |
| ATG3(NM_001278712,autophagy related 3,311aa) | g.3:112262938G>A,c.359C>T,p.T120M |
| ATG3(NM_001278712,autophagy related 3,311aa) | g.3:112253058_112253059insA,c.920_921insT,p.307fs |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96813522G>A,c.319C>T,p.R107C |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96813521C>T,c.320G>A,p.R107H |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96807924G>A,c.859C>T,p.R287W |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96807914C>T,c.869G>A,p.G290D |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96800027C>T,c.1205G>A,p.R402H |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96798840C>T,c.1360G>A,p.V454M |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96798705G>C,c.1405C>G,p.Q469E |
| ATG2B(NM_018036,autophagy related 2B,2078aa) | g.14:96798680G>A,c.1430C>T,p.P477L |