FLG | Mutation | Missense | ENST00000368799.1 |
g.152275598A>T
|
c.11764T>A
|
p.Ser3922Thr
|
possibly damaging
| HepG2 |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152282882C>A
|
c.4480G>T
|
p.Gly1494Trp
|
probably damaging
| Hep3B |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152282882C>A
|
c.4480G>T
|
p.Gly1494Trp
|
probably damaging
| Mahlavu |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152286256G>T
|
c.1106C>A
|
p.Thr369Asn
|
probably damaging
| PLC.PRF5 |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152281505C>A
|
c.5857G>T
|
p.Gly1953Cys
|
possibly damaging
| Huh1 |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152279617C>G
|
c.7745G>C
|
p.Arg2582Thr
|
benign
| JHH2 |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152280589C>T
|
c.6773G>A
|
p.Arg2258Lys
|
possibly damaging
| JHH7 |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152282956C>T
|
c.4406G>A
|
p.Arg1469His
|
benign
| SNU761 |
FLG | Mutation | Missense | ENST00000368799.1 |
g.152275687C>T
|
c.11675G>A
|
p.Arg3892Gln
|
benign
| MHCC97H |
FLG | Mutation | Truncating | ENST00000368799.1 |
g.152285605G>C
|
c.1757C>G
|
p.Ser586X
|
damaging
| Huh7 |
FLG | Mutation | Truncating | ENST00000368799.1 |
g.152285177G>A
|
c.2185C>T
|
p.Gln729X
|
damaging
| Mahlavu |