| 基因名 | 突变 |
|---|---|
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737579G>A,c.3184C>T,p.R1062W |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737373C>T,c.3314G>A,p.G1105D |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145737136G>A,c.3430C>T,p.R1144C |
| RECQL4(NM_004260,RecQ protein-like 4,1208aa) | g.8:145736897G>A,c.3544C>T,p.R1182C |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36121683C>A,c.2692C>A,p.Q898K |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36108160A>T,c.1764A>T,p.K588N |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36107981C>G,c.1585C>G,p.L529V |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36105196C>T,c.1492C>T,p.P498S |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36105178C>T,c.1474C>T,p.H492Y |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36102101G>A,c.1309G>A,p.V437M |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36100521C>T,c.1279C>T,p.R427W |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36087876G>A,c.823G>A,p.V275I |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36052269G>T,c.108G>T,p.L36F |
| RECK(NM_021111,reversion-inducing-cysteine-rich protein with kazal motifs,971aa) | g.9:36037065G>T,c.70G>T,p.V24L |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24647872A>G,c.1054A>G,p.T352A |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24647852C>T,c.1034C>T,p.A345V |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24647334G>T,c.899G>T,p.R300L |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24646742T>C,c.806T>C,p.L269P |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24646564C>T,c.709C>T,p.R237W |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24646407_24646408insAAG,c.682_683insAAG,p.228ins1aa |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24646406_24646407insGAA,c.681_682insGAA,p.227_228ins1aa |
| REC8(NM_001048205,REC8 meiotic recombination protein,546aa) | g.14:24641956C>T,c.91C>T,p.R31C |
| RDX(NM_002906,radixin,583aa) | g.11:110126031T>C,c.778A>G,p.I260V |
| RDX(NM_002906,radixin,583aa) | g.11:110126019C>G,c.790G>C,p.A264P |
| RDX(NM_002906,radixin,583aa) | g.11:110108314T>G,c.1154A>C,p.E385A |
| RDX(NM_002906,radixin,583aa) | g.11:110104062G>A,c.1487C>T,p.A496V |
| RDM1(NM_145654,RAD52 motif 1,284aa) | g.17:34257637T>C,c.95A>G,p.H32R |
| RDM1(NM_145654,RAD52 motif 1,284aa) | g.17:34252537A>C,c.381T>G,p.C127W |