| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000311277 |
| Start |
155368586:155368586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.708G>T |
| AA Mutation |
p.Glu236Asp(p.E236D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311277 |
| Start |
155368699:155368699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.595A>T |
| AA Mutation |
p.Thr199Ser(p.T199S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311277 |
| Start |
155373394:155373394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.223G>A |
| AA Mutation |
p.Asp75Asn(p.D75N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |