Genename |
Variants |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220088835C>T,c.1258G>A,p.V420M |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220088369C>T,c.1537G>A,p.V513I |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220087441T>C,c.1774A>G,p.S592G |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220087417G>A,c.1798C>T,p.P600S |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220087044T>A,c.1977A>T,p.Q659H |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220087033G>A,c.1988C>T,p.A663V |
ATG9A(NM_001077198,autophagy related 9A,839aa) |
g.2:220085477C>A,c.2506G>T,p.V836L |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11468296C>T,c.1975C>T,p.R659X |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11400019T>C,c.1412T>C,p.V471A |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11399970C>T,c.1363C>T,p.R455C |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11389502C>T,c.1277C>T,p.P426L |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11389478C>T,c.1253C>T,p.A418V |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11389448G>C,c.1223G>C,p.G408A |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11374513G>A,c.835G>A,p.V279I |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11374490G>A,c.812G>A,p.R271H |
ATG7(NM_006395,autophagy related 7,703aa) |
g.3:11340859C>T,c.184C>T,p.R62C |
ATG5(NM_004849,autophagy related 5,275aa) |
g.6:106756282T>C,c.193A>G,p.I65V |
ATG5(NM_004849,autophagy related 5,275aa) |
g.6:106727653T>C,c.361A>G,p.I121V |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10662941G>A,c.994G>A,p.V332M |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10662903G>A,c.956G>A,p.R319H |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10662612G>A,c.817G>A,p.G273R |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10659675G>A,c.742G>A,p.E248K |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10659583A>G,c.650A>G,p.Y217C |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10657911G>A,c.628G>A,p.V210I |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10657563G>T,c.353G>T,p.G118V |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10657521C>T,c.311C>T,p.T104I |
ATG4D(NM_001281504,autophagy related 4D, cysteine peptidase,411aa) |
g.19:10655489G>A,c.77G>A,p.S26N |
ATG4C(NM_032852,autophagy related 4C, cysteine peptidase,458aa) |
g.1:63329777G>T,c.1324G>T,p.D442Y |