| ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303714 |
| Start |
69070702:69070702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.352A>C |
| AA Mutation |
p.Thr118Pro(p.T118P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000303714 |
| Start |
69193350:69193350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1369T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000303714 |
| Start |
69152246:69152246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1029G>A |
| AA Mutation |
p.Trp343Ter(p.W343*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |