| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000209728 |
| Start |
40301027:40301027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1449G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000209728 |
| Start |
40291581:40291581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.573T>A |
| AA Mutation |
p.Cys191Ter(p.C191*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000209728 |
| Start |
40295424:40295426(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1154_1156delGAG |
| AA Mutation |
p.Gly385del(p.G385del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |