| Genename | Variants |
|---|---|
| ARSD(NM_001669,arylsulfatase D,593aa) | g.X:2825665C>T,c.1429G>A,p.V477I |
| ARSD(NM_001669,arylsulfatase D,593aa) | g.X:2825596C>T,c.1498G>A,p.V500I |
| ARSD(NM_001669,arylsulfatase D,593aa) | g.X:2825581C>T,c.1513G>A,p.G505R |
| ARSD(NM_001669,arylsulfatase D,593aa) | g.X:2825403A>G,c.1691T>C,p.M564T |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78280974G>A,c.98C>T,p.A33V |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78260271T>C,c.658A>G,p.I220V |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78181477C>T,c.1072G>A,p.V358M |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78181423C>T,c.1126G>A,p.V376M |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78135241C>T,c.1151G>A,p.S384N |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78135226A>G,c.1166T>C,p.I389T |
| ARSB(NM_000046,arylsulfatase B,533aa) | g.5:78135181G>A,c.1211C>T,p.P404L |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51065757C>A,c.302G>T,p.G101V |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51065593C>T,c.465+1G>A,p.155Donor |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51065435C>T,c.511G>A,p.D171N |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51065361C>A,c.585G>T,p.W195C |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51065345C>A,c.601G>T,p.A201S |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51065104C>G,c.769G>C,p.D257H |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51064489C>T,c.982G>A,p.V328M |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51064416T>C,c.1055A>G,p.N352S |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51064039G>C,c.1178C>G,p.T393S |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51063806G>C,c.1297C>G,p.L433V |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51063758C>T,c.1345G>A,p.G449R |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51063734C>T,c.1369G>A,p.A457T |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51063610C>T,c.1493G>A,p.R498H |
| ARSA(NM_000487,arylsulfatase A,509aa) | g.22:51063610C>A,c.1493G>T,p.R498L |
| ARRDC5(NM_001080523,arrestin domain containing 5,342aa) | g.19:4902693A>G,c.187T>C,p.Y63H |
| ARRDC5(NM_001080523,arrestin domain containing 5,342aa) | g.19:4902680C>T,c.200G>A,p.S67N |
| ARRDC5(NM_001080523,arrestin domain containing 5,342aa) | g.19:4891564C>T,c.523G>A,p.E175K |