| 基因名 | 突变 |
|---|---|
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151161223A>G,c.3349A>G,p.K1117E |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151161116G>A,c.3242G>A,p.G1081E |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151161086T>C,c.3212T>C,p.V1071A |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151152942C>T,c.2695C>T,p.L899F |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151152576T>G,c.2329T>G,p.C777G |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151152433A>T,c.2186A>T,p.Q729L |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151152390G>A,c.2143G>A,p.A715T |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151152322G>A,c.2075G>A,p.R692H |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151152250A>G,c.2003A>G,p.D668G |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151151919G>A,c.1672G>A,p.D558N |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151151896A>G,c.1649A>G,p.Q550R |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151151830C>T,c.1583C>T,p.A528V |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151151738_151151739insC,c.1491_1492insC,p.497fs |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151142342C>T,c.1420C>T,p.R474W |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151121958C>T,c.733C>T,p.L245F |
| PLEKHG1(NM_001029884,pleckstrin homology domain containing, family G (with RhoGef domain) member 1,1385aa) | g.6:151055031C>T,c.214C>T,p.P72S |
| PLEKHF1(NM_024310,pleckstrin homology domain containing, family F (with FYVE domain) member 1,279aa) | g.19:30165182G>A,c.436G>A,p.A146T |
| PLEKHF1(NM_024310,pleckstrin homology domain containing, family F (with FYVE domain) member 1,279aa) | g.19:30165063A>G,c.317A>G,p.K106R |
| PLEKHF1(NM_024310,pleckstrin homology domain containing, family F (with FYVE domain) member 1,279aa) | g.19:30164947C>G,c.201C>G,p.I67M |
| PLEKHF1(NM_024310,pleckstrin homology domain containing, family F (with FYVE domain) member 1,279aa) | g.19:30164820C>T,c.74C>T,p.S25L |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69995111C>T,c.1496C>T,p.S499L |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69995059C>T,c.1444C>T,p.R482C |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69993944C>T,c.1096C>T,p.R366W |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69993938C>T,c.1090C>T,p.R364C |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69993536G>A,c.1046G>A,p.R349Q |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69993434G>A,c.944G>A,p.R315H |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69992838C>T,c.922C>T,p.R308W |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69992709G>A,c.793G>A,p.E265K |