| 基因名 | 突变 |
|---|---|
| FAM24A(NM_001029888,family with sequence similarity 24, member A,105aa) | g.10:124672343C>T,c.191C>T,p.T64M |
| FAM229B(NM_001033564,family with sequence similarity 229, member B,80aa) | g.6:112421925G>A,c.178G>A,p.V60I |
| FAM229B(NM_001033564,family with sequence similarity 229, member B,80aa) | g.6:112420515G>A,c.29G>A,p.R10K |
| FAM229A(NM_001167676,family with sequence similarity 229, member A,127aa) | g.1:32827601G>C,c.92C>G,p.P31R |
| FAM228A(NM_001040710,family with sequence similarity 228, member A,206aa) | g.2:24413441C>T,c.562C>T,p.R188W |
| FAM228A(NM_001040710,family with sequence similarity 228, member A,206aa) | g.2:24413298A>G,c.419A>G,p.Y140C |
| FAM228A(NM_001040710,family with sequence similarity 228, member A,206aa) | g.2:24406478C>A,c.365C>A,p.A122D |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49907355C>T,c.14G>A,p.R5Q |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49868976G>C,c.508C>G,p.Q170E |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49868951G>A,c.533C>T,p.A178V |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49867232C>T,c.621G>A,p.W207X |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49663534T>C,c.1075A>G,p.K359E |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49659804G>A,c.1112C>T,p.S371L |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49659779del,c.1137del,p.379fs |
| FAM227B(NM_152647,family with sequence similarity 227, member B,508aa) | g.15:49627673C>T,c.1292G>A,p.R431H |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39046142T>C,c.32A>G,p.N11S |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39035680C>T,c.275G>A,p.R92H |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39034786C>T,c.337G>A,p.E113K |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39032526G>A,c.449C>T,p.P150L |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39024893_39024895del,c.565_567del,p.189del |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39022289C>A,c.746G>T,p.S249I |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39022281C>T,c.754G>A,p.V252M |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39022230C>T,c.805G>A,p.E269K |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:39003414C>T,c.1106G>A,p.R369Q |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:38987526G>T,c.1552C>A,p.P518T |
| FAM227A(NM_001013647,family with sequence similarity 227, member A,570aa) | g.22:38987519G>A,c.1559C>T,p.A520V |
| FAM222B(NM_018182,family with sequence similarity 222, member B,562aa) | g.17:27086890G>T,c.87C>A,p.D29E |
| FAM222B(NM_018182,family with sequence similarity 222, member B,562aa) | g.17:27086612C>T,c.365G>A,p.R122Q |