COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86334514T>C
|
c.3143A>G
|
p.Glu1048Gly
|
probably damaging
| HCC.3 |
COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86591759T>C
|
c.260A>G
|
p.Asp87Gly
|
benign
| SNU449 |
COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86591297T>G
|
c.722A>C
|
p.Gln241Pro
|
benign
| SNU475 |
COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86200556G>A
|
c.4874C>T
|
p.Thr1625Ile
|
benign
| JHH6 |
COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86515845G>C
|
c.1867C>G
|
p.Pro623Ala
|
probably damaging
| SNU354 |
COL24A1 | Mutation | Truncating | ENST00000370571.2 |
g.86591464A>T
|
c.555T>A
|
p.Tyr185X
|
damaging
| JHH5 |