| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003084 |
| Start |
117603627:117603627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2753T>A |
| AA Mutation |
p.Ile918Asn(p.I918N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000003084 |
| Start |
117666946:117666946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4281C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000003084 |
| Start |
117652933:117652933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3963+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |