| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160594042:160594042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3545C>T |
| AA Mutation |
p.Thr1182Ile(p.T1182I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160585069:160585069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4266G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160599499:160599499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767906902
|
| CDS Mutation |
c.3287+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |