| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230323 |
| Start |
41686103:41686103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.938G>T |
| AA Mutation |
p.Trp313Leu(p.W313L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230323 |
| Start |
41686105:41686105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.936C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000230323 |
| Start |
41690662:41690662(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.468+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |