| Genename | Variants |
|---|---|
| SGSM2(NM_014853,small G protein signaling modulator 2,1051aa) | g.17:2266799G>A,c.713G>A,p.R238K |
| SGSM2(NM_014853,small G protein signaling modulator 2,1051aa) | g.17:2266406C>G,c.650C>G,p.P217R |
| SGSM2(NM_014853,small G protein signaling modulator 2,1051aa) | g.17:2266393C>T,c.637C>T,p.R213C |
| SGSM2(NM_014853,small G protein signaling modulator 2,1051aa) | g.17:2265058C>A,c.261C>A,p.H87Q |
| SGSM2(NM_014853,small G protein signaling modulator 2,1051aa) | g.17:2265033G>C,c.236G>C,p.C79S |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25301142A>G,c.2971A>G,p.I991V |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25294399C>T,c.2648C>T,p.A883V |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25294369G>A,c.2618G>A,p.R873K |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25294155A>C,c.2404A>C,p.T802P |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25291214C>T,c.2143C>T,p.R715C |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25289497G>A,c.2035G>A,p.A679T |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25289468G>A,c.2006G>A,p.R669Q |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25272606C>T,c.1519C>T,p.R507W |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25270495G>A,c.1405G>A,p.A469T |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25270441G>C,c.1351G>C,p.V451L |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25263061G>A,c.928G>A,p.V310I |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25255683A>G,c.802A>G,p.R268G |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25251646C>T,c.800C>T,p.P267L |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25251552C>T,c.706C>T,p.R236W |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25251516A>G,c.670A>G,p.I224V |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25251372C>T,c.644C>T,p.S215L |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25246303A>G,c.359A>G,p.N120S |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25246287C>G,c.343C>G,p.L115V |
| SGSM1(NM_001039948,small G protein signaling modulator 1,1148aa) | g.22:25243709C>T,c.248C>T,p.P83L |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78188873C>T,c.314G>A,p.R105Q |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78188523G>T,c.397C>A,p.P133T |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78188089C>T,c.545G>A,p.R182H |
| SGSH(NM_000199,N-sulfoglucosamine sulfohydrolase,502aa) | g.17:78187976C>T,c.658G>A,p.V220M |