| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113412703:113412703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.991G>C |
| AA Mutation |
p.Ala331Pro(p.A331P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113415546:113415546(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138509142
|
| CDS Mutation |
c.598G>A |
| AA Mutation |
p.Val200Met(p.V200M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113424583:113424583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200831689
|
| CDS Mutation |
c.69C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |