| 基因名 | 突变 |
|---|---|
| HSF4(NM_001040667,heat shock transcription factor 4,492aa) | g.16:67201032G>T,c.636G>T,p.M212I |
| HSF4(NM_001040667,heat shock transcription factor 4,492aa) | g.16:67199736G>A,c.347G>A,p.R116H |
| HSF2(NM_004506,heat shock transcription factor 2,536aa) | g.6:122753136C>T,c.1382C>T,p.S461F |
| HSF2(NM_004506,heat shock transcription factor 2,536aa) | g.6:122752627C>T,c.1283C>T,p.S428L |
| HSF2BP(NM_007031,heat shock transcription factor 2 binding protein,334aa) | g.21:45076606T>C,c.49A>G,p.K17E |
| HSF2BP(NM_007031,heat shock transcription factor 2 binding protein,334aa) | g.21:45064182T>C,c.279A>G,p.I93M |
| HSF2BP(NM_007031,heat shock transcription factor 2 binding protein,334aa) | g.21:44949729G>A,c.910C>T,p.R304C |
| HSF2BP(NM_007031,heat shock transcription factor 2 binding protein,334aa) | g.21:44949728C>T,c.911G>A,p.R304H |
| HSF1(NM_005526,heat shock transcription factor 1,529aa) | g.8:145537709C>T,c.1376C>T,p.P459L |
| HSF1(NM_005526,heat shock transcription factor 1,529aa) | g.8:145535881C>A,c.1093C>A,p.P365T |
| HSF1(NM_005526,heat shock transcription factor 1,529aa) | g.8:145535860G>A,c.1072G>A,p.E358K |
| HSDL2(NM_032303,hydroxysteroid dehydrogenase like 2,418aa) | g.9:115221766C>A,c.1053C>A,p.S351R |
| HSDL2(NM_032303,hydroxysteroid dehydrogenase like 2,418aa) | g.9:115216442G>A,c.1015G>A,p.G339S |
| HSDL2(NM_032303,hydroxysteroid dehydrogenase like 2,418aa) | g.9:115167994A>T,c.272A>T,p.K91I |
| HSDL1(NM_031463,hydroxysteroid dehydrogenase like 1,330aa) | g.16:84163700T>C,c.557A>G,p.H186R |
| HSDL1(NM_031463,hydroxysteroid dehydrogenase like 1,330aa) | g.16:84158272C>T,c.956G>A,p.R319H |
| HSDL1(NM_031463,hydroxysteroid dehydrogenase like 1,330aa) | g.16:84158263C>T,c.965G>A,p.R322H |
| HSDL1(NM_031463,hydroxysteroid dehydrogenase like 1,330aa) | g.16:84158248G>C,c.980C>G,p.S327C |
| HSD3B7(NM_001142777,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7,196aa) | g.16:30999142A>G,c.585A>G,p.Q195Q |
| HSD3B7(NM_001142777,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7,196aa) | g.16:30998008G>A,c.514G>A,p.E172K |
| HSD3B7(NM_001142777,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7,196aa) | g.16:30997933G>A,c.439G>A,p.E147K |
| HSD3B7(NM_001142777,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7,196aa) | g.16:30997050A>G,c.71A>G,p.H24R |
| HSD3B7(NM_001142777,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7,196aa) | g.16:30996986G>A,c.7G>A,p.D3N |
| HSD3B2(NM_001166120,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2,372aa) | g.1:119965181G>A,c.1057G>A,p.V353M |
| HSD3B2(NM_001166120,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2,372aa) | g.1:119965127C>T,c.1003C>T,p.R335X |
| HSD3B2(NM_001166120,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2,372aa) | g.1:119964842C>T,c.718C>T,p.R240W |
| HSD3B2(NM_001166120,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2,372aa) | g.1:119958098T>C,c.56T>C,p.V19A |
| HSD3B2(NM_001166120,hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2,372aa) | g.1:119958055T>A,c.13T>A,p.C5S |