Gene >> SLC4A1
| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44259262:44259262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754558070
|
| CDS Mutation |
c.777G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44253333:44253333(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2096delG |
| AA Mutation |
p.Gly699AlafsTer11(p.G699Afs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |