| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254584 |
| Start |
6477802:6477802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.786G>T |
| AA Mutation |
p.Gln262His(p.Q262H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000254584 |
| Start |
6478876:6478876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.399G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000254584 |
| Start |
6477873:6477873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.715C>T |
| AA Mutation |
p.Arg239Ter(p.R239*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |