| 基因名 | 突变 |
|---|---|
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2664927C>T,c.1118C>T,p.P373L |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2664692G>A,c.1000G>A,p.G334R |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2661700C>T,c.791C>T,p.S264L |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2661342A>G,c.574A>G,p.M192V |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2648485G>A,c.364G>A,p.E122K |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2648456G>A,c.335G>A,p.S112N |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2648449A>G,c.328A>G,p.T110A |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2641568C>T,c.272C>T,p.A91V |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2632805C>T,c.74C>T,p.P25L |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155224562G>A,c.107C>T,p.T36M |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155223897C>T,c.371G>A,p.R124Q |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155221641G>A,c.677C>T,p.P226L |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155221613C>T,c.705G>A,p.M235I |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155221387G>A,c.800C>T,p.T267M |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155221353C>G,c.834G>C,p.L278F |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155220390G>A,c.1187C>T,p.P396L |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155220196G>C,c.1381C>G,p.R461G |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155220114A>G,c.1463T>C,p.L488P |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155218074G>A,c.1600C>T,p.L534F |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155218067C>T,c.1607G>A,p.R536H |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155218058C>A,c.1616G>T,p.R539L |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155218029G>A,c.1645C>T,p.R549W |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155218013C>T,c.1661G>A,p.R554Q |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155218011G>A,c.1663C>T,p.R555C |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155217906G>A,c.1768C>T,p.R590C |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155217740G>A,c.1840C>T,p.R614W |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155217739C>T,c.1841G>A,p.R614Q |
| FAM189B(NM_006589,family with sequence similarity 189, member B,668aa) | g.1:155217724C>T,c.1856G>A,p.R619Q |