| 基因名 | 突变 |
|---|---|
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39095403C>T,c.145G>A,p.G49S |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39090540G>A,c.346C>T,p.R116X |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39090515T>G,c.371A>C,p.D124A |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088950G>A,c.602C>T,p.A201V |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088809C>T,c.743G>A,p.R248Q |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088786T>C,c.766A>G,p.K256E |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088761A>G,c.791T>C,p.I264T |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088647A>G,c.905T>C,p.L302P |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088570T>G,c.982A>C,p.N328H |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088323G>A,c.1229C>T,p.S410F |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39088255T>C,c.1297A>G,p.S433G |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39082344T>C,c.1760A>G,p.N587S |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39082269C>T,c.1835G>A,p.R612H |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39075515A>G,c.2060T>C,p.I687T |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39075426C>T,c.2149G>A,p.V717I |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39070278C>T,c.2294G>A,p.R765Q |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39070156G>A,c.2416C>T,p.R806C |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39065087C>T,c.2428G>A,p.V810I |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39053147A>C,c.2856T>G,p.F952L |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39050359G>A,c.3067C>T,p.R1023W |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39042718T>G,c.3551A>C,p.E1184A |
| DHX57(NM_198963,DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57,1386aa) | g.2:39025499G>A,c.4103C>T,p.T1368M |
| DHX40(NM_024612,DEAH (Asp-Glu-Ala-His) box polypeptide 40,779aa) | g.17:57663596_57663597insA,c.1424+2insA,p.475Donorins |
| DHX40(NM_024612,DEAH (Asp-Glu-Ala-His) box polypeptide 40,779aa) | g.17:57651146C>G,c.592C>G,p.P198A |
| DHX38(NM_014003,DEAH (Asp-Glu-Ala-His) box polypeptide 38,1227aa) | g.16:72146374C>T,c.3662C>T,p.T1221M |
| DHX38(NM_014003,DEAH (Asp-Glu-Ala-His) box polypeptide 38,1227aa) | g.16:72144946A>G,c.3569A>G,p.Q1190R |
| DHX38(NM_014003,DEAH (Asp-Glu-Ala-His) box polypeptide 38,1227aa) | g.16:72144936C>T,c.3559C>T,p.R1187W |
| DHX38(NM_014003,DEAH (Asp-Glu-Ala-His) box polypeptide 38,1227aa) | g.16:72141681A>G,c.2947A>G,p.I983V |