| 基因名 | 突变 |
|---|---|
| GALNT13(NM_052917,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13),556aa) | g.2:155295135G>A,c.1427G>A,p.R476Q |
| GALNT13(NM_052917,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13),556aa) | g.2:155158079A>G,c.1133A>G,p.D378G |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101611318C>T,c.1690C>T,p.R564X |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101608364G>A,c.1564G>A,p.E522K |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101594211C>T,c.889C>T,p.R297W |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101594136G>A,c.814G>A,p.G272R |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101594103G>A,c.781G>A,p.D261N |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101589211C>T,c.719C>T,p.P240L |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101589126C>T,c.634C>T,p.R212W |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101589101C>A,c.609C>A,p.N203K |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101589100A>G,c.608A>G,p.N203S |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101589093C>T,c.601C>T,p.R201C |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101585570T>C,c.404T>C,p.L135S |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101585558A>G,c.392A>G,p.D131G |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101570336A>T,c.356A>T,p.E119V |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101570309G>A,c.329G>A,p.R110H |
| GALNT12(NM_024642,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12),581aa) | g.9:101570116G>A,c.136G>A,p.G46R |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151817970G>C,c.1612G>C,p.D538H |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151815793G>C,c.1483G>C,p.V495L |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151810476A>G,c.1226A>G,p.E409G |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151810377T>C,c.1127T>C,p.V376A |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151805294A>G,c.884A>G,p.N295S |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151805215G>A,c.805G>A,p.V269M |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151805206C>G,c.796C>G,p.R266G |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151802440G>A,c.697G>A,p.A233T |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151802394A>G,c.651A>G,p.I217M |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151800228C>T,c.451C>T,p.P151S |
| GALNT11(NM_022087,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11),608aa) | g.7:151797901G>A,c.314G>A,p.R105H |