| Genename | Variants |
|---|---|
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26355739C>T,c.835C>T,p.R279C |
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26349886G>C,c.749G>C,p.G250A |
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26349625G>A,c.488G>A,p.R163H |
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26349417G>A,c.280G>A,p.D94N |
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26349373G>C,c.236G>C,p.S79T |
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26349220C>G,c.83C>G,p.S28C |
| EXTL1(NM_004455,exostosin-like glycosyltransferase 1,676aa) | g.1:26349187C>T,c.50C>T,p.S17F |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44254000C>T,c.1790C>T,p.T597M |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44228435G>A,c.1618G>A,p.E540K |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44219445G>A,c.1402G>A,p.A468T |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44151625G>T,c.1110G>T,p.M370I |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44151602G>A,c.1087G>A,p.V363M |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44148404del,c.978del,p.326fs |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44148391G>A,c.965G>A,p.R322H |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44146491G>A,c.896G>A,p.R299H |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44146484C>T,c.889C>T,p.R297C |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44146343C>T,c.748C>T,p.R250W |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44129782A>C,c.520A>C,p.M174L |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44129444G>A,c.182G>A,p.R61H |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44129330G>A,c.68G>A,p.R23Q |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44129291G>A,c.29G>A,p.R10Q |
| EXT2(NM_001178083,exostosin glycosyltransferase 2,728aa) | g.11:44129270C>T,c.8C>T,p.A3V |
| EXT1(NM_000127,exostosin glycosyltransferase 1,746aa) | g.8:119123098C>A,c.188G>T,p.R63L |
| EXT1(NM_000127,exostosin glycosyltransferase 1,746aa) | g.8:119122941T>G,c.345A>C,p.K115N |
| EXT1(NM_000127,exostosin glycosyltransferase 1,746aa) | g.8:118834816G>T,c.1305C>A,p.F435L |
| EXT1(NM_000127,exostosin glycosyltransferase 1,746aa) | g.8:118832021G>C,c.1430C>G,p.P477R |
| EXT1(NM_000127,exostosin glycosyltransferase 1,746aa) | g.8:118831994G>A,c.1457C>T,p.A486V |
| EXT1(NM_000127,exostosin glycosyltransferase 1,746aa) | g.8:118830697C>T,c.1609G>A,p.V537I |