| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397048 |
| Start |
2250995:2250995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs573728470
|
| CDS Mutation |
c.534G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397048 |
| Start |
2244647:2244647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs574529054
|
| CDS Mutation |
c.142C>T |
| AA Mutation |
p.Arg48Ter(p.R48*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397048 |
| Start |
2244640:2244641(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.140dupA |
| AA Mutation |
p.Arg48AlafsTer26(p.R48Afs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |