AKAP13 | Mutation | In-Frame | NM_001270546.1 |
g.86262400_86262438del
|
c.1958_1996del
|
p.Gln653_Glu665del
|
damaging
| SNU761 |
AKAP13 | Mutation | Missense | ENST00000361243.2 |
g.86122333G>C
|
c.1034G>C
|
p.Ser345Thr
|
benign
| Hep3B |
AKAP13 | Mutation | Missense | ENST00000361243.2 |
g.86198893T>G
|
c.4620T>G
|
p.Ser1540Arg
|
probably damaging
| PLC.PRF5 |
AKAP13 | Mutation | Missense | ENST00000394518.2 |
g.86270322T>C
|
c.6848T>C
|
p.Leu2283Ser
|
probably damaging
| Huh1 |
AKAP13 | Mutation | Missense | ENST00000361243.2 |
g.86123049C>A
|
c.1750C>A
|
p.Gln584Lys
|
benign
| SNU886 |
AKAP13 | Mutation | Missense | ENST00000361243.2 |
g.86125041A>G
|
c.3742A>G
|
p.Ile1248Val
|
possibly damaging
| SNU886 |