| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296440 |
| Start |
48415719:48415719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3658A>T |
| AA Mutation |
p.Ser1220Cys(p.S1220C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296440 |
| Start |
48422163:48422163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1462T>A |
| AA Mutation |
p.Cys488Ser(p.C488S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296440 |
| Start |
48423868:48423868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.744A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |