| 基因名 | 突变 |
|---|---|
| DFNA5(NM_004403,deafness, autosomal dominant 5,496aa) | g.7:24742428A>G,c.1208T>C,p.L403P |
| DFNA5(NM_004403,deafness, autosomal dominant 5,496aa) | g.7:24738857_24738859del,c.1277_1279del,p.426_427del |
| DFFB(NM_004402,DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase),338aa) | g.1:3800118A>G,c.830A>G,p.K277R |
| DFFB(NM_004402,DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase),338aa) | g.1:3786245G>A,c.587G>A,p.R196K |
| DFFB(NM_004402,DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase),338aa) | g.1:3786197C>T,c.539C>T,p.A180V |
| DFFB(NM_004402,DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase),338aa) | g.1:3782393C>T,c.259C>T,p.R87C |
| DFFA(NM_213566,DNA fragmentation factor, 45kDa, alpha polypeptide,268aa) | g.1:10529326A>G,c.206T>C,p.I69T |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074915T>C,c.55A>G,p.I19V |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074867G>A,c.103C>T,p.R35C |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074605T>A,c.365A>T,p.Q122L |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074602C>T,c.368G>A,p.R123Q |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074587C>T,c.383G>A,p.R128Q |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074413C>T,c.557G>A,p.R186Q |
| DET1(NM_017996,de-etiolated homolog 1 (Arabidopsis),561aa) | g.15:89074108G>A,c.862C>T,p.R288W |
| DES(NM_001927,desmin,470aa) | g.2:220285586G>A,c.934G>A,p.D312N |
| DES(NM_001927,desmin,470aa) | g.2:220285374C>T,c.893C>T,p.S298L |
| DES(NM_001927,desmin,470aa) | g.2:220284876C>T,c.638C>T,p.A213V |
| DES(NM_001927,desmin,470aa) | g.2:220283470G>T,c.286G>T,p.A96S |
| DESI2(NM_016076,desumoylating isopeptidase 2,194aa) | g.1:244869042T>A,c.536T>A,p.V179E |
| DESI1(NM_015704,desumoylating isopeptidase 1,168aa) | g.22:41999311C>T,c.365G>A,p.R122Q |
| DERL3(NM_198440,derlin 3,205aa) | g.22:24181162C>T,c.13G>A,p.G5R |
| DERL3(NM_198440,derlin 3,205aa) | g.22:24180772A>C,c.212T>G,p.F71C |
| DERL3(NM_198440,derlin 3,205aa) | g.22:24180588C>G,c.278G>C,p.R93P |
| DERL3(NM_198440,derlin 3,205aa) | g.22:24179922G>C,c.447C>G,p.F149L |
| DERL3(NM_198440,derlin 3,205aa) | g.22:24179872C>T,c.497G>A,p.G166D |
| DERL1(NM_024295,derlin 1,251aa) | g.8:124033686C>T,c.506+1G>A,p.169Donor |
| DERL1(NM_024295,derlin 1,251aa) | g.8:124031541T>C,c.511A>G,p.I171V |
| DERA(NM_015954,deoxyribose-phosphate aldolase (putative),318aa) | g.12:16111177A>G,c.185A>G,p.D62G |