| 基因名 | 突变 |
|---|---|
| RTN1(NM_021136,reticulon 1,776aa) | g.14:60194279G>A,c.1123C>T,p.R375W |
| RTN1(NM_021136,reticulon 1,776aa) | g.14:60193907G>A,c.1495C>T,p.R499W |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101351011T>G,c.115A>C,p.S39R |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101350671_101350672insCTT,c.454_455insAAG,p.152ins1aa |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101350670_101350671insTCT,c.455_456insAGA,p.152ins1aa |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101350342G>T,c.784C>A,p.P262T |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101350032C>G,c.1094G>C,p.R365T |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101349454G>T,c.1672C>A,p.P558T |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101348767del,c.2359del,p.787fs |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101348584C>G,c.2542G>C,p.E848Q |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101348572C>T,c.2554G>A,p.A852T |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347825C>G,c.3301G>C,p.V1101L |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347803C>T,c.3323G>A,p.R1108Q |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347786G>A,c.3340C>T,p.R1114W |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347776C>T,c.3350G>A,p.R1117Q |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347774G>A,c.3352C>T,p.P1118S |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347686G>A,c.3440C>T,p.T1147I |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347669C>T,c.3457G>A,p.V1153I |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347542G>A,c.3584C>T,p.T1195M |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347482C>T,c.3644G>A,p.R1215H |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347330C>T,c.3796G>A,p.E1266K |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347090C>T,c.4036G>A,p.E1346K |
| RTL1(NM_001134888,retrotransposon-like 1,1358aa) | g.14:101347069C>T,c.4057G>A,p.E1353K |
| RTKN(NM_033046,rhotekin,550aa) | g.2:74666701G>A,c.49C>T,p.R17W |
| RTKN(NM_033046,rhotekin,550aa) | g.2:74657782C>T,c.295G>A,p.A99T |
| RTKN(NM_033046,rhotekin,550aa) | g.2:74654713G>A,c.1054C>T,p.R352X |
| RTKN(NM_033046,rhotekin,550aa) | g.2:74654605G>A,c.1162C>T,p.R388W |
| RTKN(NM_033046,rhotekin,550aa) | g.2:74653674G>A,c.1349C>T,p.A450V |