| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000262752 |
| Start |
84134782:84134782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646G>A |
| AA Mutation |
p.Asp216Asn(p.D216N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262752 |
| Start |
84104647:84104647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1466A>G |
| AA Mutation |
p.Asp489Gly(p.D489G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262752 |
| Start |
84117398:84117398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.846G>A |
| AA Mutation |
p.Met282Ile(p.M282I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |