| Genename | Variants |
|---|---|
| SCO2(NM_001169109,SCO2 cytochrome c oxidase assembly protein,266aa) | g.22:50962297G>A,c.544C>T,p.Q182X |
| SCO2(NM_001169109,SCO2 cytochrome c oxidase assembly protein,266aa) | g.22:50962074C>T,c.767G>A,p.R256Q |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10600823A>G,c.2T>C,p.M1T |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10600809G>C,c.16C>G,p.L6V |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10600658C>T,c.167G>A,p.G56E |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10600653G>A,c.172C>T,p.P58S |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10599080G>T,c.342C>A,p.H114Q |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10596213T>C,c.430A>G,p.T144A |
| SCO1(NM_004589,SCO1 cytochrome c oxidase assembly protein,301aa) | g.17:10595216T>C,c.628A>G,p.K210E |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23226779G>T,c.1939G>T,p.D647Y |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23226732G>A,c.1892G>A,p.R631H |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23221119G>A,c.1126G>A,p.G376R |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23205578T>C,c.896T>C,p.M299T |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23205521A>G,c.839A>G,p.H280R |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23203830C>A,c.776C>A,p.T259N |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23200963G>A,c.589G>A,p.E197K |
| SCNN1G(NM_001039,sodium channel, non-voltage-gated 1, gamma subunit,649aa) | g.16:23200921G>A,c.547G>A,p.G183S |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226974A>G,c.2393A>G,p.E798G |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226904C>T,c.2323C>T,p.R775W |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226889G>A,c.2308G>A,p.G770R |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226770G>A,c.2189G>A,p.R730H |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226769C>T,c.2188C>T,p.R730C |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226764G>A,c.2183G>A,p.R728Q |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226757G>A,c.2176G>A,p.G726S |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226691G>A,c.2110G>A,p.V704I |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226512G>A,c.2044G>A,p.V682M |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226492G>A,c.2024G>A,p.R675H |
| SCNN1D(NM_001130413,sodium channel, non-voltage-gated 1, delta subunit,802aa) | g.1:1226470G>A,c.2002G>A,p.V668I |