| 基因名 | 突变 |
|---|---|
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924634A>G,c.526T>C,p.S176P |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924594C>T,c.566G>A,p.R189K |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924569G>T,c.591C>A,p.S197R |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924510G>C,c.650C>G,p.S217C |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924291G>A,c.869C>T,p.A290V |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924241C>A,c.919G>T,p.A307S |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924201T>G,c.959A>C,p.D320A |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924196C>T,c.964G>A,p.A322T |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924075C>T,c.1085G>A,p.G362E |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226923938A>C,c.1222T>G,p.S408A |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226923911C>T,c.1249G>A,p.A417T |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226923889T>C,c.1271A>G,p.E424G |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226923779G>A,c.1381C>T,p.P461S |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226923505G>T,c.1655C>A,p.P552Q |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226923473G>A,c.1687C>T,p.P563S |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226835010G>A,c.2104C>T,p.R702W |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226829794C>T,c.2279G>A,p.R760Q |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226825448C>T,c.2557G>A,p.A853T |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226822377C>T,c.2836G>A,p.A946T |
| ITPKA(NM_002220,inositol-trisphosphate 3-kinase A,461aa) | g.15:41793943G>A,c.697G>A,p.A233T |
| ITPK1(NM_014216,inositol-tetrakisphosphate 1-kinase,414aa) | g.14:93483104C>T,c.163G>A,p.V55I |
| ITPK1(NM_014216,inositol-tetrakisphosphate 1-kinase,414aa) | g.14:93460231T>C,c.358A>G,p.M120V |
| ITPK1(NM_014216,inositol-tetrakisphosphate 1-kinase,414aa) | g.14:93408007C>T,c.1144G>A,p.A382T |
| ITPA(NM_033453,inosine triphosphatase (nucleoside triphosphate pyrophosphatase),194aa) | g.20:3204031G>A,c.508G>A,p.A170T |
| ITPA(NM_033453,inosine triphosphatase (nucleoside triphosphate pyrophosphatase),194aa) | g.20:3202506G>A,c.431G>A,p.R144K |
| ITPA(NM_033453,inosine triphosphatase (nucleoside triphosphate pyrophosphatase),194aa) | g.20:3194674A>G,c.233A>G,p.N78S |
| ITPA(NM_033453,inosine triphosphatase (nucleoside triphosphate pyrophosphatase),194aa) | g.20:3193842C>A,c.94C>A,p.P32T |
| ITM2C(NM_030926,integral membrane protein 2C,267aa) | g.2:231742735G>A,c.725G>A,p.R242H |