| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000006015 |
| Start |
27184849:27184849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.296C>T |
| AA Mutation |
p.Ala99Val(p.A99V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000006015 |
| Start |
27185055:27185055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.90C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000006015 |
| Start |
27184919:27184919(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.226delC |
| AA Mutation |
p.Arg76AlafsTer219(p.R76Afs*219) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |