| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381652 |
| Start |
5073726:5073726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1805G>T |
| AA Mutation |
p.Ser602Ile(p.S602I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381652 |
| Start |
5064981:5064981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1155A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000381652 |
| Start |
5069022:5069022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1327C>T |
| AA Mutation |
p.Arg443Ter(p.R443*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |