| 基因名 | 突变 |
|---|---|
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773409C>T,c.157G>A,p.V53I |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773372C>T,c.194G>A,p.R65K |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773343C>T,c.223G>A,p.A75T |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773253G>A,c.313C>T,p.R105W |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51773152C>G,c.414G>C,p.K138N |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51759274C>T,c.754G>A,p.A252T |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51753055C>T,c.1229G>A,p.R410Q |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51753007C>T,c.1277G>A,p.R426H |
| GALNT6(NM_007210,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6),622aa) | g.12:51751186G>A,c.1549C>T,p.R517C |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158167856C>T,c.2819C>T,p.A940V |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158165232C>T,c.2674C>T,p.P892S |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158165160G>A,c.2602G>A,p.V868I |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158162327G>A,c.2506G>A,p.D836N |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158162278G>T,c.2457G>T,p.L819F |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158156139G>A,c.2077G>A,p.D693N |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158156095A>C,c.2033A>C,p.D678A |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158152917T>C,c.1889T>C,p.V630A |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158140808T>C,c.1469T>C,p.L490P |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158140806G>C,c.1467G>C,p.Q489H |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158115921C>T,c.1327C>T,p.R443C |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158115630A>G,c.1036A>G,p.I346V |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158115129A>T,c.535A>T,p.T179S |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158115073_158115074insA,c.479_480insA,p.160fs |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158114824C>T,c.230C>T,p.P77L |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158114759A>G,c.165A>G,p.I55M |
| GALNT5(NM_014568,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5),940aa) | g.2:158114694C>T,c.100C>T,p.R34C |
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166627195G>A,c.16C>T,p.R6X |
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166627020T>A,c.191A>T,p.D64V |