| Genename | Variants |
|---|---|
| CHRD(NM_003741,chordin,955aa) | g.3:184102995G>A,c.1787G>A,p.R596Q |
| CHRD(NM_003741,chordin,955aa) | g.3:184101429C>T,c.1439C>T,p.T480M |
| CHRD(NM_003741,chordin,955aa) | g.3:184101154C>G,c.1268C>G,p.A423G |
| CHRD(NM_003741,chordin,955aa) | g.3:184100913G>A,c.1175G>A,p.R392H |
| CHRD(NM_003741,chordin,955aa) | g.3:184100897G>A,c.1159G>A,p.G387S |
| CHRD(NM_003741,chordin,955aa) | g.3:184099050C>T,c.280C>T,p.P94S |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74441891C>T,c.43G>A,p.A15T |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74429871T>A,c.89A>T,p.D30V |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74424521C>T,c.199G>A,p.A67T |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74421923G>A,c.403C>T,p.P135S |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74419379G>A,c.494C>T,p.P165L |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74414424C>T,c.872G>A,p.R291H |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74414394C>T,c.902G>A,p.R301H |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74413955G>A,c.1004C>T,p.P335L |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74413905G>A,c.1054C>T,p.R352C |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74408274G>A,c.1244C>T,p.P415L |
| CHRDL2(NM_015424,chordin-like 2,451aa) | g.11:74407584C>T,c.1315G>A,p.G439S |
| CHRDL1(NM_001143981,chordin-like 1,458aa) | g.X:109943946T>A,c.545A>T,p.D182V |
| CHRDL1(NM_001143981,chordin-like 1,458aa) | g.X:109937543C>T,c.626G>A,p.R209H |
| CHRAC1(NM_017444,chromatin accessibility complex 1,131aa) | g.8:141525327A>G,c.377A>G,p.H126R |
| CHRAC1(NM_017444,chromatin accessibility complex 1,131aa) | g.8:141525310T>G,c.360T>G,p.N120K |
| CHRAC1(NM_017444,chromatin accessibility complex 1,131aa) | g.8:141525292A>C,c.342A>C,p.E114D |
| CHRAC1(NM_017444,chromatin accessibility complex 1,131aa) | g.8:141524544G>A,c.224G>A,p.S75N |
| CHPT1(NM_020244,choline phosphotransferase 1,406aa) | g.12:102117599G>A,c.1039G>A,p.E347K |
| CHPT1(NM_020244,choline phosphotransferase 1,406aa) | g.12:102117581T>C,c.1021T>C,p.F341L |
| CHPT1(NM_020244,choline phosphotransferase 1,406aa) | g.12:102117558G>T,c.998G>T,p.G333V |
| CHPT1(NM_020244,choline phosphotransferase 1,406aa) | g.12:102113935C>T,c.683C>T,p.P228L |
| CHPT1(NM_020244,choline phosphotransferase 1,406aa) | g.12:102108345T>C,c.485T>C,p.F162S |