| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318121 |
| Start |
35738092:35738092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3564G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000318121 |
| Start |
35760651:35760651(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1270delG |
| AA Mutation |
p.Asp424ThrfsTer26(p.D424Tfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000318121 |
| Start |
35739232:35739232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3334C>T |
| AA Mutation |
p.Arg1112Ter(p.R1112*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |