| 基因名 | 突变 |
|---|---|
| GALNTL6(NM_001034845,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6,601aa) | g.4:173873362C>A,c.1324C>A,p.P442T |
| GALNTL6(NM_001034845,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6,601aa) | g.4:173730605G>A,c.647G>A,p.R216H |
| GALNTL6(NM_001034845,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6,601aa) | g.4:173269793G>A,c.506G>A,p.G169E |
| GALNTL6(NM_001034845,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6,601aa) | g.4:173269700G>T,c.413G>T,p.R138M |
| GALNTL6(NM_001034845,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6,601aa) | g.4:173269681C>T,c.394C>T,p.H132Y |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151716869T>A,c.1315T>A,p.S439T |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151716809C>T,c.1255C>T,p.R419X |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151700015T>C,c.875T>C,p.M292T |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151684325G>C,c.617G>C,p.G206A |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151684294G>A,c.586G>A,p.V196I |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151684256A>G,c.548A>G,p.E183G |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151680202A>G,c.500A>G,p.E167G |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151680175C>T,c.473C>T,p.T158M |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151680096C>T,c.394C>T,p.R132C |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151680072T>C,c.370T>C,p.C124R |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151668119G>A,c.337G>A,p.E113K |
| GALNTL5(NM_145292,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5,443aa) | g.7:151668063A>G,c.281A>G,p.H94R |
| GALNT9(NM_001122636,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9),603aa) | g.12:132688169T>A,c.1144A>T,p.R382W |
| GALNT9(NM_001122636,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9),603aa) | g.12:132688115C>T,c.1198G>A,p.A400T |
| GALNT9(NM_001122636,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9),603aa) | g.12:132683760C>T,c.1456G>A,p.D486N |
| GALNT9(NM_001122636,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9),603aa) | g.12:132682449G>A,c.1553C>T,p.A518V |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4881738A>G,c.1889A>G,p.D630G |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4881680G>A,c.1831G>A,p.V611M |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4874614C>T,c.1663C>T,p.R555C |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4873163G>T,c.1543G>T,p.V515F |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4872418G>A,c.1360-1G>A,p.454Acceptor |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4870241C>T,c.1291C>T,p.R431X |
| GALNT8(NM_017417,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8),637aa) | g.12:4870233A>G,c.1283A>G,p.N428S |