| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553612 |
| Start |
81196172:81196172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.548T>C |
| AA Mutation |
p.Val183Ala(p.V183A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553612 |
| Start |
81192616:81192616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.836C>T |
| AA Mutation |
p.Thr279Ile(p.T279I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000553612 |
| Start |
81192783:81192783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.669T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |