| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340645 |
| Start |
121691910:121691910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7439A>G |
| AA Mutation |
p.Tyr2480Cys(p.Y2480C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000340645 |
| Start |
121691297:121691297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8052A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000340645 |
| Start |
121697870:121697870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2638C>T |
| AA Mutation |
p.Gln880Ter(p.Q880*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |