| 基因名 | 突变 |
|---|---|
| TCTN2(NM_024809,tectonic family member 2,697aa) | g.12:124171453A>G,c.635A>G,p.N212S |
| TCTN2(NM_024809,tectonic family member 2,697aa) | g.12:124171417G>A,c.599G>A,p.R200Q |
| TCTN2(NM_024809,tectonic family member 2,697aa) | g.12:124171416C>T,c.598C>T,p.R200W |
| TCTN2(NM_024809,tectonic family member 2,697aa) | g.12:124163772C>T,c.500C>T,p.P167L |
| TCTN1(NM_001082538,tectonic family member 1,592aa) | g.12:111085576C>T,c.1658C>T,p.T553M |
| TCTN1(NM_001082538,tectonic family member 1,592aa) | g.12:111082836G>T,c.1396G>T,p.G466C |
| TCTN1(NM_001082538,tectonic family member 1,592aa) | g.12:111080097A>G,c.1234A>G,p.I412V |
| TCTN1(NM_001082538,tectonic family member 1,592aa) | g.12:111078910G>A,c.1060G>A,p.V354I |
| TCTN1(NM_001082538,tectonic family member 1,592aa) | g.12:111066587C>A,c.488C>A,p.S163Y |
| TCTEX1D4(NM_001013632,Tctex1 domain containing 4,221aa) | g.1:45272201G>A,c.140C>T,p.P47L |
| TCTEX1D4(NM_001013632,Tctex1 domain containing 4,221aa) | g.1:45271953C>A,c.388G>T,p.A130S |
| TCTEX1D2(NM_152773,Tctex1 domain containing 2,142aa) | g.3:196044998A>G,c.26T>C,p.F9S |
| TCTEX1D2(NM_152773,Tctex1 domain containing 2,142aa) | g.3:196022930G>A,c.328C>T,p.R110C |
| TCTEX1D1(NM_152665,Tctex1 domain containing 1,179aa) | g.1:67243024C>A,c.427C>A,p.L143I |
| TCTEX1D1(NM_152665,Tctex1 domain containing 1,179aa) | g.1:67242087G>A,c.336+1G>A,p.112Donor |
| TCTEX1D1(NM_152665,Tctex1 domain containing 1,179aa) | g.1:67236097A>T,c.147A>T,p.E49D |
| TCTE3(NM_174910,t-complex-associated-testis-expressed 3,198aa) | g.6:170144310G>T,c.181C>A,p.P61T |
| TCTE3(NM_174910,t-complex-associated-testis-expressed 3,198aa) | g.6:170144292T>C,c.199A>G,p.I67V |
| TCTE3(NM_174910,t-complex-associated-testis-expressed 3,198aa) | g.6:170144228C>A,c.263G>T,p.R88I |
| TCTE3(NM_174910,t-complex-associated-testis-expressed 3,198aa) | g.6:170143300A>G,c.362T>C,p.V121A |
| TCTE3(NM_174910,t-complex-associated-testis-expressed 3,198aa) | g.6:170140288T>C,c.590A>G,p.Y197C |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44255471G>C,c.92C>G,p.S31X |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44255459G>A,c.104C>T,p.P35L |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44255387C>T,c.176G>A,p.R59H |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44255375C>T,c.188G>A,p.R63Q |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44255337C>T,c.226G>A,p.V76M |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44254077T>G,c.470A>C,p.E157A |
| TCTE1(NM_182539,t-complex-associated-testis-expressed 1,501aa) | g.6:44254000G>A,c.547C>T,p.L183F |