| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281441 |
| Start |
129852633:129852633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757047005
|
| CDS Mutation |
c.151G>A |
| AA Mutation |
p.Ala51Thr(p.A51T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000281441 |
| Start |
129855733:129855733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.411C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000281441 |
| Start |
129854818:129854818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.385+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |