| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170844085:170844085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.679C>A |
| AA Mutation |
p.Gln227Lys(p.Q227K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170829477:170829477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.148T>G |
| AA Mutation |
p.Phe50Val(p.F50V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170858869:170858869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1587T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |