| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262105 |
| Start |
47961644:47961644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755044869
|
| CDS Mutation |
c.199G>A |
| AA Mutation |
p.Val67Met(p.V67M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262105 |
| Start |
47971363:47971363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1823A>T |
| AA Mutation |
p.Asn608Ile(p.N608I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262105 |
| Start |
47970510:47970510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1435-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |