| 基因名 | 突变 |
|---|---|
| FAM120B(NM_032448,family with sequence similarity 120B,910aa) | g.6:170627481G>A,c.1003G>A,p.A335T |
| FAM120B(NM_032448,family with sequence similarity 120B,910aa) | g.6:170627470C>T,c.992C>T,p.T331M |
| FAM120B(NM_032448,family with sequence similarity 120B,910aa) | g.6:170627191T>C,c.713T>C,p.M238T |
| FAM120B(NM_032448,family with sequence similarity 120B,910aa) | g.6:170626765A>G,c.287A>G,p.D96G |
| FAM120AOS(NM_198841,family with sequence similarity 120A opposite strand,256aa) | g.9:96214928G>A,c.64C>T,p.L22F |
| FAM120AOS(NM_198841,family with sequence similarity 120A opposite strand,256aa) | g.9:96214813G>C,c.179C>G,p.P60R |
| FAM120AOS(NM_198841,family with sequence similarity 120A opposite strand,256aa) | g.9:96212813C>T,c.632G>A,p.S211N |
| FAM120AOS(NM_198841,family with sequence similarity 120A opposite strand,256aa) | g.9:96212800G>C,c.645C>G,p.H215Q |
| FAM120AOS(NM_198841,family with sequence similarity 120A opposite strand,256aa) | g.9:96209957T>C,c.707A>G,p.N236S |
| FAM120AOS(NM_198841,family with sequence similarity 120A opposite strand,256aa) | g.9:96209943T>C,c.721A>G,p.K241E |
| FAM120A(NM_014612,family with sequence similarity 120A,1118aa) | g.9:96320917G>A,c.2723G>A,p.R908H |
| FAM120A(NM_014612,family with sequence similarity 120A,1118aa) | g.9:96305746G>A,c.2152G>A,p.V718I |
| FAM120A(NM_014612,family with sequence similarity 120A,1118aa) | g.9:96291645C>T,c.1517C>T,p.S506L |
| FAM120A(NM_014612,family with sequence similarity 120A,1118aa) | g.9:96278460G>A,c.1327G>A,p.G443S |
| FAM120A(NM_014612,family with sequence similarity 120A,1118aa) | g.9:96278416C>T,c.1283C>T,p.T428M |
| FAM120A(NM_014612,family with sequence similarity 120A,1118aa) | g.9:96259883_96259884insA,c.933+2insA,p.311Donorins |
| FAM118B(NM_024556,family with sequence similarity 118, member B,351aa) | g.11:126104933G>A,c.37G>A,p.E13K |
| FAM118B(NM_024556,family with sequence similarity 118, member B,351aa) | g.11:126104918G>A,c.22G>A,p.A8T |
| FAM118A(NM_001104595,family with sequence similarity 118, member A,357aa) | g.22:45728370G>A,c.716G>A,p.R239H |
| FAM118A(NM_001104595,family with sequence similarity 118, member A,357aa) | g.22:45726589G>A,c.628G>A,p.V210I |
| FAM118A(NM_001104595,family with sequence similarity 118, member A,357aa) | g.22:45726556G>A,c.595G>A,p.G199R |
| FAM118A(NM_001104595,family with sequence similarity 118, member A,357aa) | g.22:45723898G>A,c.476G>A,p.R159Q |
| FAM118A(NM_001104595,family with sequence similarity 118, member A,357aa) | g.22:45723807G>C,c.385G>C,p.V129L |
| FAM118A(NM_001104595,family with sequence similarity 118, member A,357aa) | g.22:45719240C>T,c.232C>T,p.R78W |
| FAM117B(NM_173511,family with sequence similarity 117, member B,589aa) | g.2:203620403T>C,c.1103T>C,p.I368T |
| FAM117A(NM_030802,family with sequence similarity 117, member A,453aa) | g.17:47810019C>T,c.260G>A,p.R87Q |
| FAM117A(NM_030802,family with sequence similarity 117, member A,453aa) | g.17:47799922C>T,c.401G>A,p.R134H |
| FAM117A(NM_030802,family with sequence similarity 117, member A,453aa) | g.17:47797692A>G,c.569T>C,p.L190P |