| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389916 |
| Start |
74347787:74347787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.935G>A |
| AA Mutation |
p.Gly312Glu(p.G312E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389916 |
| Start |
74353228:74353228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2147G>T |
| AA Mutation |
p.Gly716Val(p.G716V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389916 |
| Start |
74349303:74349303(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1168delC |
| AA Mutation |
p.Gln390ArgfsTer285(p.Q390Rfs*285) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |