| 基因名 | 突变 |
|---|---|
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23300255C>T,c.881C>T,p.S294F |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23300128G>A,c.754G>A,p.D252N |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23299748G>A,c.691G>A,p.V231M |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23299648C>G,c.591C>G,p.N197K |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23299622C>T,c.565C>T,p.R189X |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23296573G>A,c.430G>A,p.G144R |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23293854C>T,c.290C>T,p.A97V |
| GPNMB(NM_001005340,glycoprotein (transmembrane) nmb,572aa) | g.7:23286529C>T,c.53C>T,p.P18L |
| GPN3(NM_001164372,GPN-loop GTPase 3,323aa) | g.12:110890877T>C,c.934A>G,p.M312V |
| GPN2(NM_018066,GPN-loop GTPase 2,310aa) | g.1:27210735T>C,c.776A>G,p.N259S |
| GPN2(NM_018066,GPN-loop GTPase 2,310aa) | g.1:27210721T>C,c.790A>G,p.R264G |
| GPN2(NM_018066,GPN-loop GTPase 2,310aa) | g.1:27210667C>T,c.844G>A,p.D282N |
| GPN1(NM_007266,GPN-loop GTPase 1,388aa) | g.2:27861811A>C,c.672A>C,p.Q224H |
| GPN1(NM_007266,GPN-loop GTPase 1,388aa) | g.2:27854723G>A,c.310G>A,p.G104S |
| GPN1(NM_007266,GPN-loop GTPase 1,388aa) | g.2:27851963C>T,c.80C>T,p.S27F |
| GPN1(NM_007266,GPN-loop GTPase 1,388aa) | g.2:27851942C>G,c.59C>G,p.A20G |
| GPN1(NM_007266,GPN-loop GTPase 1,388aa) | g.2:27851918G>A,c.35G>A,p.R12K |
| GPM6B(NM_001001995,glycoprotein M6B,328aa) | g.X:13803910T>C,c.199A>G,p.I67V |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24489733C>G,c.7G>C,p.A3P |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24489691G>C,c.49C>G,p.L17V |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24489652C>T,c.88G>A,p.V30I |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24476437C>T,c.302G>A,p.R101Q |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24472814G>A,c.541C>T,p.R181C |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24467145A>G,c.676T>C,p.S226P |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24466917T>C,c.812A>G,p.N271S |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24463020G>C,c.825C>G,p.D275E |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24454392C>T,c.1186G>A,p.G396S |
| GPLD1(NM_001503,glycosylphosphatidylinositol specific phospholipase D1,840aa) | g.6:24454335G>A,c.1243C>T,p.R415C |