| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109783683:109783683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372583866
|
| CDS Mutation |
c.2554C>T |
| AA Mutation |
p.Arg852Cys(p.R852C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109792696:109792696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1780C>T |
| AA Mutation |
p.Arg594Cys(p.R594C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261740 |
| Start |
109808384:109808384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368606075
|
| CDS Mutation |
c.471C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |