| 基因名 | 突变 |
|---|---|
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30953280C>T,c.100G>A,p.V34M |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30953249G>A,c.131C>T,p.T44M |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30952019C>T,c.193G>A,p.A65T |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30951956T>C,c.256A>G,p.T86A |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30951709C>T,c.503G>A,p.R168H |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30951503C>T,c.709G>A,p.E237K |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30951226C>T,c.986G>A,p.R329H |
| GAL3ST1(NM_004861,galactose-3-O-sulfotransferase 1,423aa) | g.22:30951208C>T,c.1004G>A,p.R335H |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:905535G>A,c.308C>T,p.S103F |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:887698G>A,c.841C>T,p.H281Y |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:882639C>T,c.1201G>A,p.A401T |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:877191C>T,c.1316G>A,p.R439Q |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:877153C>T,c.1354G>A,p.V452I |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:877115C>A,c.1392G>T,p.R464S |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:871449C>G,c.1810G>C,p.G604R |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:870925C>T,c.1927G>A,p.V643I |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:864532G>A,c.2215C>T,p.R739W |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:862380G>A,c.2342C>T,p.P781L |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:862366C>T,c.2356G>A,p.A786T |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:862363C>A,c.2359G>T,p.D787Y |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:861215T>C,c.2401A>G,p.K801E |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:861170C>T,c.2446G>A,p.E816K |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:861128C>T,c.2488G>A,p.D830N |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:861112G>A,c.2504C>T,p.P835L |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:861089G>C,c.2527C>G,p.P843A |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:861014G>C,c.2602C>G,p.P868A |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:860986T>C,c.2630A>G,p.Q877R |
| GAK(NM_005255,cyclin G associated kinase,1311aa) | g.4:860768G>C,c.2848C>G,p.P950A |