| 基因名 | 突变 |
|---|---|
| TMED4(NM_182547,transmembrane emp24 protein transport domain containing 4,227aa) | g.7:44621783G>A,c.23C>T,p.P8L |
| TMED4(NM_182547,transmembrane emp24 protein transport domain containing 4,227aa) | g.7:44621720C>G,c.86G>C,p.G29A |
| TMED4(NM_182547,transmembrane emp24 protein transport domain containing 4,227aa) | g.7:44621664_44621665insG,c.141_142insC,p.47fs |
| TMED4(NM_182547,transmembrane emp24 protein transport domain containing 4,227aa) | g.7:44621394C>G,c.189G>C,p.K63N |
| TMED3(NM_007364,transmembrane emp24 protein transport domain containing 3,217aa) | g.15:79614382T>G,c.480T>G,p.H160Q |
| TMED3(NM_007364,transmembrane emp24 protein transport domain containing 3,217aa) | g.15:79606202G>A,c.272G>A,p.R91Q |
| TMED3(NM_007364,transmembrane emp24 protein transport domain containing 3,217aa) | g.15:79606186G>A,c.256G>A,p.D86N |
| TMED3(NM_007364,transmembrane emp24 protein transport domain containing 3,217aa) | g.15:79603760G>A,c.168+1G>A,p.56Donor |
| TMED3(NM_007364,transmembrane emp24 protein transport domain containing 3,217aa) | g.15:79603653C>T,c.62C>T,p.A21V |
| TMED3(NM_007364,transmembrane emp24 protein transport domain containing 3,217aa) | g.15:79603608C>T,c.17C>T,p.P6L |
| TMED2(NM_006815,transmembrane emp24 domain trafficking protein 2,201aa) | g.12:124081157G>A,c.487G>A,p.D163N |
| TMED2(NM_006815,transmembrane emp24 domain trafficking protein 2,201aa) | g.12:124081151G>A,c.482-1G>A,p.161Acceptor |
| TMED1(NM_006858,transmembrane emp24 protein transport domain containing 1,227aa) | g.19:10946843C>T,c.25G>A,p.A9T |
| TMED1(NM_006858,transmembrane emp24 protein transport domain containing 1,227aa) | g.19:10945977C>A,c.236G>T,p.G79V |
| TMED1(NM_006858,transmembrane emp24 protein transport domain containing 1,227aa) | g.19:10943762G>A,c.593C>T,p.A198V |
| TMED1(NM_006858,transmembrane emp24 protein transport domain containing 1,227aa) | g.19:10943688G>A,c.667C>T,p.R223C |
| TMED10(NM_006827,transmembrane emp24-like trafficking protein 10 (yeast),219aa) | g.14:75618780T>C,c.292A>G,p.T98A |
| TMED10(NM_006827,transmembrane emp24-like trafficking protein 10 (yeast),219aa) | g.14:75601711_75601712insA,c.539-2insT,p.180Acceptorins |
| TMCO6(NM_018502,transmembrane and coiled-coil domains 6,493aa) | g.5:140023238C>G,c.896C>G,p.T299S |
| TMCO6(NM_018502,transmembrane and coiled-coil domains 6,493aa) | g.5:140021612C>A,c.472C>A,p.L158I |
| TMCO6(NM_018502,transmembrane and coiled-coil domains 6,493aa) | g.5:140021265C>T,c.214C>T,p.R72W |
| TMCO5A(NM_152453,transmembrane and coiled-coil domains 5A,288aa) | g.15:38228620G>T,c.96G>T,p.Q32H |
| TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) | g.1:20097941G>T,c.214C>A,p.Q72K |
| TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) | g.1:20097817G>A,c.338C>T,p.P113L |
| TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) | g.1:20082221T>C,c.421A>G,p.M141V |
| TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) | g.1:20082209G>A,c.433C>T,p.L145F |
| TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) | g.1:20073719G>A,c.550C>T,p.R184W |
| TMCO4(NM_181719,transmembrane and coiled-coil domains 4,634aa) | g.1:20073703C>T,c.566G>A,p.R189H |