| 基因名 | 突变 |
|---|---|
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326159G>A,c.3247G>A,p.A1083T |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62326110A>C,c.3198A>C,p.Q1066H |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62325833C>A,c.3173C>A,p.P1058H |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62325754G>A,c.3094G>A,p.V1032M |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62325731C>T,c.3071C>T,p.T1024M |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62324631C>A,c.3059C>A,p.P1020H |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62324619C>T,c.3047C>T,p.P1016L |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62324610G>A,c.3038G>A,p.R1013Q |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62324601G>A,c.3029G>A,p.R1010Q |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62324290G>A,c.2857G>A,p.A953T |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62323173C>T,c.2707C>T,p.R903W |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62323162G>A,c.2696G>A,p.R899K |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62323150C>T,c.2684C>T,p.P895L |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62322274C>T,c.2602C>T,p.R868W |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62322226C>T,c.2554C>T,p.R852W |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62322188G>T,c.2516G>T,p.S839I |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62321128G>A,c.2123G>A,p.R708Q |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62320968T>C,c.2064T>C,p.D688D |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62319390G>A,c.1654G>A,p.A552T |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62317178C>T,c.1373C>T,p.T458M |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62312070C>G,c.1261C>G,p.Q421E |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62311299C>T,c.1207C>T,p.R403C |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62294237T>C,c.605T>C,p.V202A |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62293862C>T,c.431C>T,p.T144I |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62293272A>G,c.371A>G,p.N124S |
| RTEL1(NM_032957,regulator of telomere elongation helicase 1,1243aa) | g.20:62293235G>A,c.334G>A,p.A112T |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23482483G>A,c.125C>T,p.T42M |
| RTDR1(NM_014433,rhabdoid tumor deletion region gene 1,348aa) | g.22:23481079G>A,c.250C>T,p.R84C |