| Genename | Variants |
|---|---|
| ATPAF2(NM_145691,ATP synthase mitochondrial F1 complex assembly factor 2,289aa) | g.17:17931644C>T,c.226G>A,p.A76T |
| ATPAF2(NM_145691,ATP synthase mitochondrial F1 complex assembly factor 2,289aa) | g.17:17925164C>T,c.511G>A,p.V171M |
| ATPAF2(NM_145691,ATP synthase mitochondrial F1 complex assembly factor 2,289aa) | g.17:17924535C>A,c.634G>T,p.A212S |
| ATPAF1(NM_022745,ATP synthase mitochondrial F1 complex assembly factor 1,351aa) | g.1:47133811T>C,c.253A>G,p.S85G |
| ATPAF1(NM_022745,ATP synthase mitochondrial F1 complex assembly factor 1,351aa) | g.1:47130999G>A,c.373C>T,p.R125C |
| ATPAF1(NM_022745,ATP synthase mitochondrial F1 complex assembly factor 1,351aa) | g.1:47108969C>T,c.758G>A,p.R253Q |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77134015G>A,c.3188G>A,p.R1063H |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77133900G>A,c.3073G>A,p.G1025S |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77108159G>A,c.2866G>A,p.A956T |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77097360A>T,c.2194A>T,p.M732L |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77097333G>A,c.2167G>A,p.A723T |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77096664G>A,c.2065G>A,p.V689M |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77063702G>A,c.1510G>A,p.D504N |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77037083C>T,c.1298C>T,p.A433V |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77037071A>T,c.1286A>T,p.D429V |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77013504C>T,c.1231C>T,p.R411W |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77013409G>A,c.1136G>A,p.R379Q |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:77013388T>G,c.1115T>G,p.L372W |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:76974004G>A,c.1073G>A,p.R358Q |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:76886315C>T,c.607C>T,p.R203W |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:76856627G>C,c.271G>C,p.G91R |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:76856577G>A,c.221G>A,p.R74Q |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:76856565A>G,c.209A>G,p.H70R |
| ATP9B(NM_198531,ATPase, class II, type 9B,1147aa) | g.18:76829525A>G,c.115A>G,p.S39G |
| ATP9A(NM_006045,ATPase, class II, type 9A,1047aa) | g.20:50346491C>A,c.95G>T,p.G32V |
| ATP9A(NM_006045,ATPase, class II, type 9A,1047aa) | g.20:50342399C>T,c.286G>A,p.E96K |
| ATP9A(NM_006045,ATPase, class II, type 9A,1047aa) | g.20:50235546C>T,c.2152G>A,p.A718T |
| ATP9A(NM_006045,ATPase, class II, type 9A,1047aa) | g.20:50235288C>T,c.2263G>A,p.V755I |