ADAMTS14 | Mutation | Missense | ENST00000373207.1 |
g.72511968C>A
|
c.2714C>A
|
p.Pro905Gln
|
benign
| B1 |
ADAMTS14 | Mutation | Missense | ENST00000373207.1 |
g.72509640C>T
|
c.2326C>T
|
p.Arg776Trp
|
probably damaging
| SNU398 |
ADAMTS14 | Mutation | Missense | ENST00000373207.1 |
g.72462194G>T
|
c.649G>T
|
p.Ala217Ser
|
benign
| PLC.PRF5 |
ADAMTS14 | Mutation | Missense | ENST00000373207.1 |
g.72493645G>A
|
c.1213G>A
|
p.Gly405Ser
|
probably damaging
| JHH1 |
ADAMTS14 | Mutation | Truncating | ENST00000373207.1 |
g.72492011G>A
|
c.1104G>A
|
p.Gly368Gly (Splice)
|
damaging
| HCC.1.1 |
ADAMTS14 | Mutation | Truncating | ENST00000373207.1 |
g.72520504G>A
|
c.3567G>A
|
p.Trp1189X
|
damaging
| JHH4 |