| 基因名 | 突变 |
|---|---|
| PDIA4(NM_004911,protein disulfide isomerase family A, member 4,645aa) | g.7:148701179C>T,c.1645G>A,p.E549K |
| PDIA4(NM_004911,protein disulfide isomerase family A, member 4,645aa) | g.7:148701169G>A,c.1655C>T,p.A552V |
| PDIA4(NM_004911,protein disulfide isomerase family A, member 4,645aa) | g.7:148701047C>T,c.1777G>A,p.D593N |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44060779A>G,c.1121A>G,p.N374S |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44060773A>G,c.1115A>G,p.E372G |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44060737A>G,c.1079A>G,p.N360S |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44055385G>C,c.583G>C,p.E195Q |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44038858G>T,c.121G>T,p.D41Y |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44038850G>T,c.113G>T,p.R38L |
| PDIA3(NM_005313,protein disulfide isomerase family A, member 3,505aa) | g.15:44038756G>T,c.19G>T,p.A7S |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:337076C>T,c.1541C>T,p.P514L |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336916C>T,c.1504C>T,p.P502S |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336892G>A,c.1480G>A,p.G494R |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336888_336889insA,c.1476_1477insA,p.492fs |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336854C>G,c.1442C>G,p.T481S |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336731G>A,c.1418G>A,p.R473Q |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336716C>T,c.1403C>T,p.P468L |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336691G>A,c.1378G>A,p.G460S |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336438C>T,c.1205C>T,p.A402V |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336396G>A,c.1163G>A,p.R388Q |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336381_336382del,c.1148_1149del,p.383fs |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:336377C>G,c.1144C>G,p.P382A |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335639G>T,c.1055G>T,p.G352V |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335614A>C,c.1030A>C,p.T344P |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335531C>T,c.947C>T,p.A316V |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335430G>A,c.914G>A,p.R305Q |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335423C>T,c.907C>T,p.R303C |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335388G>A,c.872G>A,p.R291Q |