| 基因名 | 突变 |
|---|---|
| ST6GALNAC5(NM_030965,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5,336aa) | g.1:77510267G>A,c.640G>A,p.E214K |
| ST6GALNAC5(NM_030965,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5,336aa) | g.1:77510135T>C,c.508T>C,p.F170L |
| ST6GALNAC5(NM_030965,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5,336aa) | g.1:77334363A>G,c.197A>G,p.Q66R |
| ST6GALNAC5(NM_030965,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5,336aa) | g.1:77334292_77334293insCAGCAA,c.126_127insCAGCAA,p.42_43ins2aa |
| ST6GALNAC5(NM_030965,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5,336aa) | g.1:77334277_77334279del,c.111_113del,p.37_38del |
| ST6GALNAC4(NM_175039,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4,302aa) | g.9:130677075C>T,c.58G>A,p.V20I |
| ST6GALNAC4(NM_175039,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4,302aa) | g.9:130674667C>T,c.491G>A,p.R164H |
| ST6GALNAC4(NM_175039,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4,302aa) | g.9:130674655G>A,c.503C>T,p.T168M |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:77094318A>G,c.745A>G,p.R249G |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:77093195G>A,c.682G>A,p.A228T |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:77093180C>A,c.667C>A,p.L223I |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:77093142A>G,c.629A>G,p.Q210R |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:76878014A>G,c.535A>G,p.I179V |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:76877984G>A,c.505G>A,p.V169I |
| ST6GALNAC3(NM_152996,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3,305aa) | g.1:76877919C>T,c.440C>T,p.A147V |
| ST6GALNAC2(NM_006456,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2,374aa) | g.17:74564871C>T,c.781G>A,p.A261T |
| ST6GALNAC2(NM_006456,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2,374aa) | g.17:74564841T>C,c.811A>G,p.K271E |
| ST6GALNAC2(NM_006456,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2,374aa) | g.17:74562292C>T,c.1019G>A,p.R340Q |
| ST6GALNAC2(NM_006456,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2,374aa) | g.17:74562202T>A,c.1109A>T,p.Q370L |
| ST6GALNAC2(NM_006456,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2,374aa) | g.17:74562186T>G,c.1125A>C,p.X375C |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74639623G>A,c.98C>T,p.S33F |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74625686A>G,c.239T>C,p.V80A |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74625306T>G,c.619A>C,p.T207P |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74623239C>T,c.1082G>A,p.R361Q |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74622774T>C,c.1270A>G,p.I424V |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74622761C>T,c.1283G>A,p.R428Q |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74622747C>T,c.1297G>A,p.V433M |
| ST6GALNAC1(NM_018414,ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1,600aa) | g.17:74621962C>G,c.1544G>C,p.R515T |