| 基因名 | 突变 |
|---|---|
| FAM47E-STBD1(NM_001242939,FAM47E-STBD1 readthrough,351aa) | g.4:77192838A>C,c.787A>C,p.K263Q |
| FAM47E-STBD1(NM_001242939,FAM47E-STBD1 readthrough,351aa) | g.4:77192728C>T,c.677C>T,p.S226L |
| FAM47E-STBD1(NM_001242939,FAM47E-STBD1 readthrough,351aa) | g.4:77189902G>A,c.650G>A,p.R217H |
| FAM47E-STBD1(NM_001242939,FAM47E-STBD1 readthrough,351aa) | g.4:77184997G>C,c.560+1G>C,p.187Donor |
| FAM47E-STBD1(NM_001242939,FAM47E-STBD1 readthrough,351aa) | g.4:77184996C>T,c.560C>T,p.P187L |
| FAM47E(NM_001242936,family with sequence similarity 47, member E,295aa) | g.4:77204570C>T,c.847C>T,p.R283C |
| FAM47E(NM_001242936,family with sequence similarity 47, member E,295aa) | g.4:77201487C>T,c.803C>T,p.T268M |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37029425C>T,c.2942C>T,p.A981V |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37029254A>C,c.2771A>C,p.N924T |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37029199A>G,c.2716A>G,p.M906V |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37029098T>C,c.2615T>C,p.F872S |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37028755C>T,c.2272C>T,p.R758C |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37028629G>C,c.2146G>C,p.A716P |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37028371C>A,c.1888C>A,p.L630I |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37028139G>T,c.1656G>T,p.E552D |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37028110G>A,c.1627G>A,p.V543I |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37028000G>C,c.1517G>C,p.R506P |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37027903C>A,c.1420C>A,p.L474I |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37027798C>T,c.1315C>T,p.R439C |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37027694C>T,c.1211C>T,p.P404L |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37027438C>T,c.955C>T,p.R319C |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37027219C>T,c.736C>T,p.L246F |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37027007C>A,c.524C>A,p.P175H |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37026799A>G,c.316A>G,p.K106E |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37026521C>T,c.38C>T,p.P13L |
| FAM47C(NM_001013736,family with sequence similarity 47, member C,1035aa) | g.X:37026494A>G,c.11A>G,p.Q4R |
| FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) | g.X:34962821A>T,c.1873A>T,p.I625F |
| FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) | g.X:34962555C>T,c.1607C>T,p.P536L |