| 基因名 | 突变 |
|---|---|
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209190877del,c.3342del,p.1114fs |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209190632T>G,c.3097T>G,p.S1033A |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209190528C>G,c.2993C>G,p.T998S |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209190519A>T,c.2984A>T,p.Q995L |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209190330T>C,c.2795T>C,p.L932S |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209184980G>A,c.2087G>A,p.S696N |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209180091_209180092insA,c.2001_2002insA,p.667fs |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209179939A>G,c.1849A>G,p.M617V |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209179036G>A,c.1715G>A,p.R572Q |
| PIKFYVE(NM_015040,phosphoinositide kinase, FYVE finger containing,2098aa) | g.2:209176977A>G,c.1654A>G,p.T552A |
| PIK3R5(NM_001251851,phosphoinositide-3-kinase, regulatory subunit 5,494aa) | g.17:8791873G>A,c.73C>T,p.R25C |
| PIK3R5(NM_001251851,phosphoinositide-3-kinase, regulatory subunit 5,494aa) | g.17:8791758G>A,c.188C>T,p.T63M |
| PIK3R5(NM_001251851,phosphoinositide-3-kinase, regulatory subunit 5,494aa) | g.17:8791494T>C,c.452A>G,p.N151S |
| PIK3R5(NM_001251851,phosphoinositide-3-kinase, regulatory subunit 5,494aa) | g.17:8788064C>T,c.1007G>A,p.R336Q |
| PIK3R5(NM_001251851,phosphoinositide-3-kinase, regulatory subunit 5,494aa) | g.17:8784042G>A,c.1399C>T,p.P467S |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130463512T>C,c.551A>G,p.N184S |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130452431C>A,c.1411G>T,p.A471S |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130449252T>A,c.1485A>T,p.R495S |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130447530_130447531insA,c.1586-2insT,p.529Acceptorins |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130447462A>G,c.1652T>C,p.I551T |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130437265G>C,c.2095C>G,p.L699V |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130424530C>T,c.2807G>A,p.R936Q |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130409494T>C,c.3103A>G,p.I1035V |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130405189T>C,c.3341A>G,p.Y1114C |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130405169G>C,c.3361C>G,p.L1121V |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130403162C>T,c.3539G>A,p.C1180Y |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130398298C>G,c.3938G>C,p.S1313T |
| PIK3R4(NM_014602,phosphoinositide-3-kinase, regulatory subunit 4,1358aa) | g.3:130398277del,c.3959del,p.1320fs |