OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228548329C>T
|
c.19736C>T
|
p.Ala6579Val
|
benign
| Hep3B |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228432266A>T
|
c.3475A>T
|
p.Ile1159Phe
|
possibly damaging
| HCC.1.2 |
OBSCN | Mutation | Missense | ENST00000570156.2 |
g.228461096A>T
|
c.6110A>T
|
p.D2037V
|
NA
| HCC.3 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228505746G>A
|
c.14003G>A
|
p.Arg4668Gln
|
possibly damaging
| SNU182 |
OBSCN | Mutation | Missense | ENST00000570156.2 |
g.228447336C>A
|
c.4996C>A
|
p.L1666M
|
NA
| SNU398 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228402024G>T
|
c.1408G>T
|
p.Ala470Ser
|
benign
| SNU449 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228505423C>T
|
c.13820C>T
|
p.Pro4607Leu
|
probably damaging
| SNU475 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228494090C>T
|
c.11677C>T
|
p.Arg3893Trp
|
probably damaging
| Huh7 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228400443C>T
|
c.959C>T
|
p.Thr320Ile
|
probably damaging
| PLC.PRF5 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228468357T>C
|
c.8057T>C
|
p.Leu2686Pro
|
probably damaging
| PLC.PRF5 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228528465C>A
|
c.17573C>A
|
p.Ala5858Glu
|
probably damaging
| PLC.PRF5 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228468098C>T
|
c.7882C>T
|
p.Arg2628Cys
|
benign
| HLE |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228468098C>T
|
c.7882C>T
|
p.Arg2628Cys
|
benign
| HLF |
OBSCN | Mutation | Missense | ENST00000570156.2 |
g.228459896G>A
|
c.5960G>A
|
p.R1987Q
|
NA
| Huh6 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228481122C>T
|
c.10936C>T
|
p.Arg3646Trp
|
benign
| Huh6 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228456234C>T
|
c.4865C>T
|
p.Pro1622Leu
|
benign
| JHH2 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228469708G>A
|
c.8272G>A
|
p.Val2758Ile
|
possibly damaging
| JHH2 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228469825C>T
|
c.8389C>T
|
p.Arg2797Trp
|
probably damaging
| JHH2 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228471240T>G
|
c.8774T>G
|
p.Leu2925Arg
|
probably damaging
| JHH2 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228471318G>A
|
c.8852G>A
|
p.Gly2951Asp
|
benign
| JHH4 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228461605G>C
|
c.5272G>C
|
p.Glu1758Gln
|
possibly damaging
| JHH5 |
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228463548C>A
|
c.6041C>A
|
p.Pro2014Gln
|
probably damaging
| SNU368 |
OBSCN | Mutation | Missense | ENST00000422127.1 |
g.228560647T>C
|
c.22168T>C
|
p.Ser7390Pro
|
benign
| SNU368 |
OBSCN | Mutation | Truncating | ENST00000284548.11 |
g.228520646del
|
c.15731+7del
|
p.?
|
damaging
| HepG2 |