| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121445375:121445375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2003C>T |
| AA Mutation |
p.Ala668Val(p.A668V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121453232:121453232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1847G>A |
| AA Mutation |
p.Cys616Tyr(p.C616Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377071 |
| Start |
121442384:121442384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3057G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |