| 基因名 | 突变 |
|---|---|
| RTKN(NM_033046,rhotekin,550aa) | g.2:74653642C>T,c.1381G>A,p.A461T |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:64022556C>T,c.85G>A,p.D29N |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:64005772T>G,c.302A>C,p.K101T |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63999515C>T,c.380G>A,p.R127H |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63999438T>C,c.457A>G,p.T153A |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63983021G>C,c.757C>G,p.H253D |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63983020T>C,c.758A>G,p.H253R |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63977980C>T,c.862G>A,p.A288T |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63976959C>T,c.938G>A,p.R313Q |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63976918C>T,c.979G>A,p.E327K |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63976915C>T,c.982G>A,p.A328T |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63976914G>A,c.983C>T,p.A328V |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63976913_63976918del,c.979_984del,p.327_328del |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63964769G>A,c.1033C>T,p.R345W |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63959567G>A,c.1240C>T,p.R414W |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63958112T>C,c.1385A>G,p.H462R |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63957852T>C,c.1645A>G,p.M549V |
| RTKN2(NM_145307,rhotekin 2,609aa) | g.10:63957819G>A,c.1678C>T,p.R560X |
| RTFDC1(NM_016407,replication termination factor 2 domain containing 1,306aa) | g.20:55093178C>T,c.778C>T,p.P260S |
| RTFDC1(NM_016407,replication termination factor 2 domain containing 1,306aa) | g.20:55088404A>G,c.511A>G,p.M171V |
| RTFDC1(NM_016407,replication termination factor 2 domain containing 1,306aa) | g.20:55052111A>G,c.329A>G,p.K110R |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326695G>A,c.3586G>A,p.E1196K |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326538G>A,c.3535G>A,p.V1179M |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326518C>T,c.3515C>T,p.P1172L |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326304C>G,c.3392C>G,p.P1131R |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326205C>T,c.3293C>T,p.A1098V |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326187G>A,c.3275G>A,p.R1092H |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326162G>A,c.3250G>A,p.V1084M |