HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22176542G>A
|
c.7438C>T
|
p.R2480W
|
probably damaging
| SNU423 |
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22211409A>G
|
c.1358T>C
|
p.V453A (Splice)
|
probably damaging
| PLC.PRF5 |
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22174196G>C
|
c.8011C>G
|
p.P2671A
|
probably damaging
| Huh6 |
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22163333C>A
|
c.10317G>T
|
p.Q3439H
|
benign
| JHH5 |
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22155354C>A
|
c.12211G>T
|
p.A4071S
|
possibly damaging
| JHH6 |
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22158206C>T
|
c.11291G>A
|
p.Arg3764His
|
probably damaging
| SNU739 |
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22176542G>A
|
c.7438C>T
|
p.R2480W
|
probably damaging
| SNU886 |