| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000382051 |
| Start |
25670767:25670767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.861A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000382051 |
| Start |
25676251:25676251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1575T>A |
| AA Mutation |
p.Tyr525Ter(p.Y525*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000382051 |
| Start |
25669764:25669765(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.755dupT |
| AA Mutation |
p.His253ProfsTer17(p.H253Pfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |