| 基因名 | 突变 |
|---|---|
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151791594C>A,c.282C>A,p.F94L |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151791477C>A,c.165C>A,p.F55L |
| GALNT10(NM_198321,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10),603aa) | g.5:153792453G>A,c.1391G>A,p.R464Q |
| GALNT10(NM_198321,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10),603aa) | g.5:153789255C>T,c.1319C>T,p.T440M |
| GALNT10(NM_198321,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10),603aa) | g.5:153789234A>G,c.1298A>G,p.K433R |
| GALNT10(NM_198321,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10),603aa) | g.5:153783682C>T,c.1075C>T,p.R359C |
| GALNT10(NM_198321,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10),603aa) | g.5:153674473G>A,c.257G>A,p.R86H |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88909215A>G,c.143T>C,p.V48A |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88909159G>T,c.199C>A,p.L67M |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88904097A>C,c.499T>G,p.F167V |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88902643G>A,c.599C>T,p.T200M |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88902199G>C,c.692C>G,p.A231G |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88901662G>A,c.857C>T,p.T286M |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88901632G>A,c.887C>T,p.A296V |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88893161A>G,c.1088T>C,p.I363T |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88893122C>T,c.1127G>A,p.R376Q |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88891261G>A,c.1156C>T,p.R386C |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88891240C>A,c.1177G>T,p.A393S |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88891219C>T,c.1198G>A,p.A400T |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88889114A>G,c.1247T>C,p.I416T |
| GALNS(NM_000512,galactosamine (N-acetyl)-6-sulfate sulfatase,522aa) | g.16:88884435C>T,c.1462G>A,p.V488M |
| GAL(NM_015973,galanin/GMAP prepropeptide,123aa) | g.11:68452438C>T,c.47C>T,p.A16V |
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38916989T>C,c.587T>C,p.I196T |
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38916970A>T,c.568A>T,p.N190Y |
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38916968T>C,c.566T>C,p.I189T |
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38908467C>T,c.391C>T,p.R131C |
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38908438G>A,c.362G>A,p.R121Q |
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38903143G>A,c.280G>A,p.E94K |