| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360631 |
| Start |
35854559:35854559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151019237
|
| CDS Mutation |
c.975G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360631 |
| Start |
35810888:35810888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1635C>A |
| AA Mutation |
p.Tyr545Ter(p.Y545*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000360631 |
| Start |
35774537:35774537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2221T>A |
| AA Mutation |
p.Ter741LysextTer1(p.*741Kext*1) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |