| 基因名 | 突变 |
|---|---|
| GIPC2(NM_017655,GIPC PDZ domain containing family, member 2,315aa) | g.1:78511960C>T,c.182C>T,p.S61F |
| GIPC1(NM_005716,GIPC PDZ domain containing family, member 1,333aa) | g.19:14593574C>T,c.215G>A,p.R72H |
| GIPC1(NM_005716,GIPC PDZ domain containing family, member 1,333aa) | g.19:14590315G>A,c.677C>T,p.A226V |
| GIPC1(NM_005716,GIPC PDZ domain containing family, member 1,333aa) | g.19:14590279G>C,c.713C>G,p.T238S |
| GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) | g.8:41399354G>A,c.511G>A,p.V171M |
| GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) | g.8:41397254C>G,c.355C>G,p.P119A |
| GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) | g.8:41394780C>G,c.265C>G,p.L89V |
| GINS4(NM_032336,GINS complex subunit 4 (Sld5 homolog),223aa) | g.8:41394771C>T,c.256C>T,p.R86C |
| GINS3(NM_001126129,GINS complex subunit 3 (Psf3 homolog),255aa) | g.16:58437167G>A,c.469G>A,p.G157R |
| GINS3(NM_001126129,GINS complex subunit 3 (Psf3 homolog),255aa) | g.16:58437056C>T,c.358C>T,p.R120X |
| GINS3(NM_001126129,GINS complex subunit 3 (Psf3 homolog),255aa) | g.16:58429094C>G,c.275C>G,p.P92R |
| GINS2(NM_016095,GINS complex subunit 2 (Psf2 homolog),185aa) | g.16:85722434T>C,c.71A>G,p.D24G |
| GINS2(NM_016095,GINS complex subunit 2 (Psf2 homolog),185aa) | g.16:85712190C>T,c.388G>A,p.V130M |
| GINS1(NM_021067,GINS complex subunit 1 (Psf1 homolog),196aa) | g.20:25398790G>A,c.289G>A,p.V97I |
| GINM1(NM_138785,glycoprotein integral membrane 1,330aa) | g.6:149903738_149903741del,c.880_881del,p.294fs |
| GINM1(NM_138785,glycoprotein integral membrane 1,330aa) | g.6:149903633G>A,c.775G>A,p.V259I |
| GINM1(NM_138785,glycoprotein integral membrane 1,330aa) | g.6:149903597A>G,c.739A>G,p.K247E |
| GINM1(NM_138785,glycoprotein integral membrane 1,330aa) | g.6:149901016G>A,c.476G>A,p.R159Q |
| GINM1(NM_138785,glycoprotein integral membrane 1,330aa) | g.6:149900005A>G,c.325A>G,p.I109V |
| GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) | g.5:102440516del,c.368del,p.123fs |
| GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) | g.5:102433434G>A,c.691C>T,p.H231Y |
| GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) | g.5:102433409G>A,c.716C>T,p.T239M |
| GIN1(NM_017676,gypsy retrotransposon integrase 1,522aa) | g.5:102433082T>C,c.944A>G,p.K315R |
| GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) | g.4:107288334A>T,c.259T>A,p.Y87N |
| GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) | g.4:107279518T>C,c.476A>G,p.E159G |
| GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) | g.4:107279482T>A,c.512A>T,p.K171I |
| GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) | g.4:107279479G>A,c.515C>T,p.T172M |
| GIMD1(NM_001195138,GIMAP family P-loop NTPase domain containing 1,217aa) | g.4:107279450C>T,c.544G>A,p.V182I |