Genename |
Variants |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161960_29161965del,c.861_866del,p.287_289del |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161956_29161961del,c.857_862del,p.286_288del |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161845G>A,c.746G>A,p.R249K |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161517G>A,c.418G>A,p.D140N |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161503A>G,c.404A>G,p.E135G |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161358C>T,c.259C>T,p.P87S |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161202A>T,c.103A>T,p.T35S |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29161196A>G,c.97A>G,p.T33A |
ATAD5(NM_024857,ATPase family, AAA domain containing 5,1844aa) |
g.17:29159404del,c.39del,p.13fs |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1403894A>G,c.1220A>G,p.E407G |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1403873A>G,c.1199A>G,p.E400G |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1403869G>A,c.1195G>A,p.G399R |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1403858G>A,c.1184G>A,p.R395H |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1403788G>A,c.1114G>A,p.G372R |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1398066C>T,c.1067C>T,p.A356V |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1398032C>G,c.1033C>G,p.R345G |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1398008G>A,c.1009G>A,p.G337R |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1397982G>A,c.983G>A,p.R328H |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1394548T>C,c.749T>C,p.I250T |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1392547G>A,c.728G>A,p.R243Q |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1391656G>A,c.616G>A,p.V206M |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1391276G>A,c.544G>A,p.G182R |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1391231C>T,c.499C>T,p.R167W |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1391192C>T,c.460C>T,p.R154C |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1389843G>A,c.341G>A,p.R114H |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1389774C>T,c.272C>T,p.A91V |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1387764G>A,c.172G>A,p.G58R |
ATAD3C(NM_001039211,ATPase family, AAA domain containing 3C,411aa) |
g.1:1387499T>A,c.149T>A,p.I50N |