| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318249 |
| Start |
21445159:21445159(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.73G>A |
| AA Mutation |
p.Gly25Ser(p.G25S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318249 |
| Start |
21473567:21473567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.922G>A |
| AA Mutation |
p.Ala308Thr(p.A308T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000318249 |
| Start |
21480050:21480050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1209-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |