| 基因名 | 突变 |
|---|---|
| DPCD(NM_015448,deleted in primary ciliary dyskinesia homolog (mouse),203aa) | g.10:103368654T>C,c.467T>C,p.L156S |
| DPCD(NM_015448,deleted in primary ciliary dyskinesia homolog (mouse),203aa) | g.10:103348155A>C,c.62A>C,p.D21A |
| DPCD(NM_015448,deleted in primary ciliary dyskinesia homolog (mouse),203aa) | g.10:103348125G>A,c.32G>A,p.R11Q |
| DPAGT1(NM_001382,dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase),408aa) | g.11:118969143del,c.698del,p.233fs |
| DPAGT1(NM_001382,dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase),408aa) | g.11:118968185A>C,c.994T>G,p.F332V |
| DPAGT1(NM_001382,dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase),408aa) | g.11:118967758T>C,c.1177A>G,p.I393V |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2226877G>A,c.4357G>A,p.G1453S |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2226847G>T,c.4327G>T,p.G1443C |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2226772G>C,c.4252G>C,p.V1418L |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2226676G>A,c.4156G>A,p.G1386S |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2226655C>A,c.4135C>A,p.L1379M |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2222325G>A,c.3157G>A,p.A1053T |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2216725C>T,c.2369C>T,p.T790M |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2216421C>T,c.2065C>T,p.R689W |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2214564C>T,c.1892C>T,p.S631L |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2213968G>A,c.1780G>A,p.G594S |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2213952C>G,c.1764C>G,p.D588E |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2211146T>C,c.1400T>C,p.V467A |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2210815G>A,c.1312G>A,p.A438T |
| DOT1L(NM_032482,DOT1-like histone H3K79 methyltransferase,1537aa) | g.19:2210451C>G,c.1058C>G,p.A353G |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37661405G>A,c.6416G>A,p.G2139E |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37661366C>T,c.6377C>T,p.T2126M |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37660372del,c.6221del,p.2074fs |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37642318C>G,c.5495C>G,p.T1832S |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37623565C>T,c.5104C>T,p.R1702C |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37620846G>A,c.4978G>A,p.V1660I |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37618876C>T,c.4598C>T,p.S1533F |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37618626G>T,c.4348G>T,p.V1450F |