| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12159932:12159932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2312C>A |
| AA Mutation |
p.Pro771His(p.P771H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12181365:12181365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768880012
|
| CDS Mutation |
c.1051G>A |
| AA Mutation |
p.Asp351Asn(p.D351N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261349 |
| Start |
12131981:12131981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs1012672
|
| CDS Mutation |
c.3810C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |