ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94487460G>A
|
c.4715C>T
|
p.Thr1572Met
|
possibly damaging
| SNU387 |
ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94528729C>T
|
c.1699G>A
|
p.Val567Met
|
possibly damaging
| SNU398 |
ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94522354C>T
|
c.2185G>A
|
p.Asp729Asn
|
benign
| JHH4 |
ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94544208C>T
|
c.1294G>A
|
p.Glu432Lys
|
benign
| JHH4 |
ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94543287T>C
|
c.1513A>G
|
p.Ile505Val
|
benign
| JHH7 |
ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94495005G>C
|
c.4535C>G
|
p.Pro1512Arg
|
possibly damaging
| SNU368 |