
| 基因名 | 突变 |
|---|---|
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23481048G>A,c.281C>T,p.T94M |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23476261G>A,c.373C>T,p.R125W |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23406180C>T,c.553G>A,p.E185K |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23406114G>A,c.619C>T,p.R207C |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23406099G>A,c.634C>T,p.R212C |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23401822G>A,c.865C>T,p.R289C |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23401770C>T,c.917G>A,p.R306H |
| RTCB(NM_014306,RNA 2',3'-cyclic phosphate and 5'-OH ligase,505aa) | g.22:32802742T>C,c.247A>G,p.I83V |
| RTCB(NM_014306,RNA 2',3'-cyclic phosphate and 5'-OH ligase,505aa) | g.22:32792192T>C,c.859A>G,p.I287V |
| RTCB(NM_014306,RNA 2',3'-cyclic phosphate and 5'-OH ligase,505aa) | g.22:32788264G>A,c.1373C>T,p.A458V |
| RTCA(NM_001130841,RNA 3'-terminal phosphate cyclase,379aa) | g.1:100756990A>G,c.1070A>G,p.E357G |
| RTCA(NM_001130841,RNA 3'-terminal phosphate cyclase,379aa) | g.1:100752722C>T,c.1001C>T,p.T334M |
| RTCA(NM_001130841,RNA 3'-terminal phosphate cyclase,379aa) | g.1:100740505G>C,c.638G>C,p.G213A |
| RTCA(NM_001130841,RNA 3'-terminal phosphate cyclase,379aa) | g.1:100736135G>A,c.352G>A,p.V118I |
| RTBDN(NM_001270440,retbindin,205aa) | g.19:12940782C>A,c.108G>T,p.R36S |
| RTBDN(NM_001270440,retbindin,205aa) | g.19:12940756G>A,c.134C>T,p.T45M |
| RSU1(NM_012425,Ras suppressor protein 1,277aa) | g.10:16858993T>C,c.88A>G,p.M30V |
| RSU1(NM_012425,Ras suppressor protein 1,277aa) | g.10:16794565G>A,c.571C>T,p.R191C |
| RSRC2(NM_023012,arginine/serine-rich coiled-coil 2,434aa) | g.12:123001939C>T,c.437G>A,p.R146Q |
| RSRC1(NM_001271838,arginine/serine-rich coiled-coil 1,334aa) | g.3:157920896G>A,c.356G>A,p.R119H |
| RSRC1(NM_001271838,arginine/serine-rich coiled-coil 1,334aa) | g.3:157841717G>A,c.257G>A,p.R86H |
| RSPRY1(NM_133368,ring finger and SPRY domain containing 1,576aa) | g.16:57261344A>G,c.1252A>G,p.I418V |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:982768C>A,c.40G>T,p.A14S |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:948725C>T,c.136G>A,p.G46S |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:948686G>A,c.175C>T,p.R59C |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:947909C>T,c.317G>A,p.R106Q |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:947849G>A,c.377C>T,p.T126I |
| RSPO4(NM_001029871,R-spondin 4,234aa) | g.20:944718T>G,c.455A>C,p.H152P |