| 基因名 | 突变 |
|---|---|
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4870229C>T,c.1279C>T,p.R427C |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4855393A>G,c.1142A>G,p.Y381C |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4855365G>T,c.1114G>T,p.G372W |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4855312G>A,c.1061G>A,p.S354N |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4854744C>T,c.1010C>T,p.A337V |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4854630G>A,c.896G>A,p.R299H |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4854614C>T,c.880C>T,p.R294W |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4853806A>G,c.800A>G,p.E267G |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4853740G>A,c.734G>A,p.G245E |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4853706G>A,c.700G>A,p.E234K |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4853697C>T,c.691C>T,p.H231Y |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4848337G>A,c.518G>A,p.R173Q |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4848336C>T,c.517C>T,p.R173W |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4835985C>T,c.499C>T,p.R167X |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4835967C>T,c.481C>T,p.R161C |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4830000T>G,c.157T>G,p.Y53D |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4829997C>T,c.154C>T,p.R52C |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174238804C>G,c.1628C>G,p.A543G |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174235308A>G,c.1589A>G,p.K530R |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174235304C>A,c.1585C>A,p.P529T |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174235242A>G,c.1523A>G,p.K508R |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174219391G>A,c.1091G>A,p.R364Q |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174219273T>A,c.973T>A,p.C325S |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174213297C>T,c.626C>T,p.S209L |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174169569G>A,c.565G>A,p.V189I |
| GALNT7(NM_017423,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7),657aa) | g.4:174090107A>G,c.121A>G,p.M41V |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773547G>A,c.19C>T,p.R7C |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773471C>T,c.95G>A,p.S32N |