| Genename | Variants |
|---|---|
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:2139842C>T,c.2813G>A,p.R938H |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:2091765C>T,c.2914G>A,p.A972T |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:2091729G>A,c.2950C>T,p.R984C |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:1989027C>G,c.3526G>C,p.E1176Q |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:1985220C>T,c.3565G>A,p.E1189K |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:1985210T>G,c.3575A>C,p.E1192A |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:1972209T>C,c.3698A>G,p.H1233R |
| SMG6(NM_017575,SMG6 nonsense mediated mRNA decay factor,1419aa) | g.17:1968967T>C,c.3842A>G,p.N1281S |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156247757C>T,c.256G>A,p.V86I |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156242144T>C,c.680A>G,p.Y227C |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156237465C>T,c.913G>A,p.V305M |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156237315T>C,c.1063A>G,p.I355V |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156235800G>A,c.1627C>T,p.R543W |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156235769T>C,c.1658A>G,p.N553S |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156233308G>A,c.1909C>T,p.R637W |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156233284T>C,c.1933A>G,p.K645E |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156231130C>T,c.2101G>A,p.E701K |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156220659C>A,c.2957G>T,p.G986V |
| SMG5(NM_015327,SMG5 nonsense mediated mRNA decay factor,1016aa) | g.1:156220437C>T,c.2992G>A,p.A998T |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18937330T>C,c.34A>G,p.S12G |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18908268C>T,c.103G>A,p.A35T |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18887528T>C,c.1808A>G,p.N603S |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18887501A>T,c.1835T>A,p.I612K |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18881315T>C,c.2494A>G,p.N832D |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18880596T>C,c.2663A>G,p.Y888C |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18880573G>A,c.2686C>T,p.R896C |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18879528G>A,c.3179C>T,p.T1060I |
| SMG1(NM_015092,SMG1 phosphatidylinositol 3-kinase-related kinase,3661aa) | g.16:18875042C>A,c.3625G>T,p.A1209S |