| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000583931 |
| Start |
150229188:150229188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.377C>T |
| AA Mutation |
p.Thr126Ile(p.T126I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000583931 |
| Start |
150231854:150231854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.127G>T |
| AA Mutation |
p.Glu43Ter(p.E43*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000583931 |
| Start |
150230694:150230694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.205-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |