| 基因名 | 突变 |
|---|---|
| GP6(NM_001083899,glycoprotein VI (platelet),620aa) | g.19:55525596T>C,c.1717A>G,p.R573G |
| GP6(NM_001083899,glycoprotein VI (platelet),620aa) | g.19:55525586C>T,c.1727G>A,p.R576K |
| GP6(NM_001083899,glycoprotein VI (platelet),620aa) | g.19:55525548T>C,c.1765A>G,p.S589G |
| GP6(NM_001083899,glycoprotein VI (platelet),620aa) | g.19:55525508G>A,c.1805C>T,p.T602M |
| GP6(NM_001083899,glycoprotein VI (platelet),620aa) | g.19:55525497A>G,c.1816T>C,p.F606L |
| GP5(NM_004488,glycoprotein V (platelet),560aa) | g.3:194118293C>T,c.719G>A,p.R240Q |
| GP5(NM_004488,glycoprotein V (platelet),560aa) | g.3:194118145C>G,c.867G>C,p.M289I |
| GP5(NM_004488,glycoprotein V (platelet),560aa) | g.3:194118090C>A,c.922G>T,p.A308S |
| GP5(NM_004488,glycoprotein V (platelet),560aa) | g.3:194117943C>G,c.1069G>C,p.G357R |
| GP5(NM_004488,glycoprotein V (platelet),560aa) | g.3:194117448A>T,c.1564T>A,p.W522R |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20335563A>G,c.110T>C,p.I37T |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20335318T>C,c.355A>G,p.M119V |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20335264C>T,c.409G>A,p.A137T |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20331706C>A,c.745G>T,p.G249W |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20329730C>T,c.1039G>A,p.G347R |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20329634C>T,c.1135G>A,p.V379M |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20328685T>C,c.1275A>G,p.Q425Q |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20328666C>T,c.1294G>A,p.V432M |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20327311G>A,c.1477C>T,p.R493W |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20327283C>T,c.1505G>A,p.R502Q |
| GP2(NM_001007240,glycoprotein 2 (zymogen granule membrane),537aa) | g.16:20325993G>C,c.1541C>G,p.T514S |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4837662T>C,c.1763T>C,p.V588A |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4837181T>C,c.1282T>C,p.S428P |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4837172_4837210del,c.1273_1311del,p.425_437del |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4837131C>T,c.1232C>T,p.P411L |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4836381C>T,c.482C>T,p.T161M |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4836254A>G,c.355A>G,p.T119A |
| GP1BA(NM_000173,glycoprotein Ib (platelet), alpha polypeptide,652aa) | g.17:4836105C>T,c.206C>T,p.P69L |