COL17A1 | Mutation | Missense | ENST00000353479.5 |
g.105836074G>A
|
c.316C>T
|
p.Arg106Cys
|
probably damaging
| HepaRG |
COL17A1 | Mutation | Missense | ENST00000353479.5 |
g.105797412C>T
|
c.3190G>A
|
p.Val1064Ile
|
probably damaging
| HCC.3 |
COL17A1 | Mutation | Missense | ENST00000353479.5 |
g.105796270C>T
|
c.3398G>A
|
p.Arg1133His
|
benign
| Li7 |
COL17A1 | Mutation | Missense | ENST00000353479.5 |
g.105836074G>A
|
c.316C>T
|
p.Arg106Cys
|
probably damaging
| Li7 |
COL17A1 | Mutation | Truncating | ENST00000353479.5 |
g.105800823C>T
|
c.2701G>A
|
p.Glu901Lys (Splice)
|
possibly damaging
| SNU886 |