| 基因名 | 突变 |
|---|---|
| TMX3(NM_019022,thioredoxin-related transmembrane protein 3,454aa) | g.18:66348328C>T,c.925G>A,p.V309I |
| TMX2(NM_015959,thioredoxin-related transmembrane protein 2,296aa) | g.11:57505886A>G,c.425A>G,p.N142S |
| TMX2(NM_015959,thioredoxin-related transmembrane protein 2,296aa) | g.11:57505495A>G,c.361A>G,p.I121V |
| TMX2(NM_015959,thioredoxin-related transmembrane protein 2,296aa) | g.11:57505468A>G,c.334A>G,p.M112V |
| TMX2(NM_015959,thioredoxin-related transmembrane protein 2,296aa) | g.11:57505465C>T,c.331C>T,p.R111C |
| TMX2(NM_015959,thioredoxin-related transmembrane protein 2,296aa) | g.11:57480232G>C,c.142G>C,p.G48R |
| TMX1(NM_030755,thioredoxin-related transmembrane protein 1,280aa) | g.14:51716453C>T,c.634C>T,p.R212C |
| TMUB2(NM_177441,transmembrane and ubiquitin-like domain containing 2,301aa) | g.17:42267949G>A,c.623G>A,p.R208H |
| TMUB2(NM_177441,transmembrane and ubiquitin-like domain containing 2,301aa) | g.17:42266880G>A,c.466G>A,p.V156M |
| TMUB1(NM_031434,transmembrane and ubiquitin-like domain containing 1,246aa) | g.7:150779542C>T,c.109G>A,p.G37R |
| TMUB1(NM_031434,transmembrane and ubiquitin-like domain containing 1,246aa) | g.7:150778855T>G,c.522A>C,p.R174S |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101322613C>T,c.3+1G>A,p.1Donor |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101320979T>C,c.73A>G,p.T25A |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101320882T>C,c.170A>G,p.Y57C |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101315340C>T,c.430G>A,p.V144I |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101290233T>C,c.785A>G,p.N262S |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101289950C>T,c.841G>A,p.G281S |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101289878C>T,c.913G>A,p.V305M |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101288877C>T,c.1111G>A,p.D371N |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101287340C>T,c.1312G>A,p.V438I |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101258623T>C,c.2123A>G,p.H708R |
| TMTC4(NM_032813,transmembrane and tetratricopeptide repeat containing 4,760aa) | g.13:101257309G>C,c.2222C>G,p.T741S |
| TMTC3(NM_181783,transmembrane and tetratricopeptide repeat containing 3,914aa) | g.12:88589256G>A,c.2575G>A,p.V859I |
| TMTC3(NM_181783,transmembrane and tetratricopeptide repeat containing 3,914aa) | g.12:88589107G>A,c.2426G>A,p.R809H |
| TMTC3(NM_181783,transmembrane and tetratricopeptide repeat containing 3,914aa) | g.12:88586539G>A,c.1865G>A,p.R622H |
| TMTC3(NM_181783,transmembrane and tetratricopeptide repeat containing 3,914aa) | g.12:88568463G>T,c.1279G>T,p.D427Y |
| TMTC3(NM_181783,transmembrane and tetratricopeptide repeat containing 3,914aa) | g.12:88547213A>G,c.335A>G,p.K112R |
| TMTC3(NM_181783,transmembrane and tetratricopeptide repeat containing 3,914aa) | g.12:88542151A>G,c.59A>G,p.Y20C |