| 基因名 | 突变 |
|---|---|
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184764931A>C,c.1967T>G,p.I656S |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184764824C>T,c.2074G>A,p.D692N |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184764740C>T,c.2158G>A,p.V720M |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184764410C>T,c.2488G>A,p.G830S |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184764331C>T,c.2567G>A,p.S856N |
| FAM129A(NM_052966,family with sequence similarity 129, member A,928aa) | g.1:184764167C>T,c.2731G>A,p.V911M |
| FAM127C(NM_001078173,family with sequence similarity 127, member C,113aa) | g.X:134156215C>T,c.275G>A,p.S92N |
| FAM127B(NM_001078172,family with sequence similarity 127, member B,113aa) | g.X:134186131C>T,c.8G>A,p.G3D |
| FAM127B(NM_001078172,family with sequence similarity 127, member B,113aa) | g.X:134185997T>A,c.142A>T,p.S48C |
| FAM126B(NM_173822,family with sequence similarity 126, member B,530aa) | g.2:201887622C>T,c.85G>A,p.A29T |
| FAM126B(NM_173822,family with sequence similarity 126, member B,530aa) | g.2:201881856T>A,c.191A>T,p.Y64F |
| FAM126B(NM_173822,family with sequence similarity 126, member B,530aa) | g.2:201846441C>T,c.1145G>A,p.R382H |
| FAM126B(NM_173822,family with sequence similarity 126, member B,530aa) | g.2:201846313T>C,c.1273A>G,p.M425V |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:23018030T>C,c.191A>G,p.Y64C |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:23017940T>C,c.281A>G,p.N94S |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:23004127C>T,c.650G>A,p.R217Q |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:22999898C>T,c.968G>A,p.R323K |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:22985603C>G,c.1171G>C,p.G391R |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:22985435C>T,c.1339G>A,p.A447T |
| FAM126A(NM_032581,family with sequence similarity 126, member A,521aa) | g.7:22985294C>T,c.1480G>A,p.V494I |
| FAM124B(NM_024785,family with sequence similarity 124B,272aa) | g.2:225266139A>G,c.347T>C,p.F116S |
| FAM124B(NM_024785,family with sequence similarity 124B,272aa) | g.2:225266020A>G,c.466T>C,p.Y156H |
| FAM124B(NM_024785,family with sequence similarity 124B,272aa) | g.2:225265881G>A,c.605C>T,p.S202F |
| FAM124A(NM_145019,family with sequence similarity 124A,582aa) | g.13:51855304C>T,c.1661C>T,p.P554L |
| FAM124A(NM_145019,family with sequence similarity 124A,582aa) | g.13:51855043A>G,c.1400A>G,p.Y467C |
| FAM124A(NM_145019,family with sequence similarity 124A,582aa) | g.13:51855006C>T,c.1363C>T,p.R455W |
| FAM124A(NM_145019,family with sequence similarity 124A,582aa) | g.13:51854784G>A,c.1141G>A,p.G381R |
| FAM124A(NM_145019,family with sequence similarity 124A,582aa) | g.13:51854640G>A,c.997G>A,p.E333K |