| 基因名 | 突变 |
|---|---|
| FAM86A(NM_201400,family with sequence similarity 86, member A,330aa) | g.16:5140136C>T,c.691G>A,p.A231T |
| FAM86A(NM_201400,family with sequence similarity 86, member A,330aa) | g.16:5139186G>C,c.814C>G,p.H272D |
| FAM86A(NM_201400,family with sequence similarity 86, member A,330aa) | g.16:5139114C>T,c.886G>A,p.E296K |
| FAM86A(NM_201400,family with sequence similarity 86, member A,330aa) | g.16:5135657C>T,c.969G>A,p.M323I |
| FAM84B(NM_174911,family with sequence similarity 84, member B,310aa) | g.8:127569382C>T,c.253G>A,p.V85M |
| FAM84B(NM_174911,family with sequence similarity 84, member B,310aa) | g.8:127568802G>C,c.833C>G,p.P278R |
| FAM84A(NM_145175,family with sequence similarity 84, member A,292aa) | g.2:14774623G>A,c.520G>A,p.V174M |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144812701C>T,c.52G>A,p.G18R |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144812619C>T,c.134G>A,p.R45H |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144812389C>A,c.364G>T,p.V122L |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144811340G>A,c.601C>T,p.Q201X |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144811338C>G,c.603G>C,p.Q201H |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144811338C>A,c.603G>T,p.Q201H |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144811252C>T,c.622G>A,p.V208I |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144810346C>A,c.1285G>T,p.V429L |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144810322G>A,c.1309C>T,p.H437Y |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144810138G>A,c.1493C>T,p.P498L |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144810026C>G,c.1605G>C,p.E535D |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144809962C>A,c.1669G>T,p.G557C |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144809910C>A,c.1721G>T,p.G574V |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144809772G>A,c.1859C>T,p.A620V |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144809721G>A,c.1910C>T,p.P637L |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144809473C>T,c.2158G>A,p.G720R |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144809268C>T,c.2363G>A,p.S788N |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144808926C>T,c.2705G>A,p.G902E |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144808779G>A,c.2852C>T,p.A951V |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144808693G>A,c.2938C>T,p.R980C |
| FAM83H(NM_198488,family with sequence similarity 83, member H,1179aa) | g.8:144808688C>T,c.2943G>A,p.M981I |