| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31837891:31837891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1061C>T |
| AA Mutation |
p.Thr354Ile(p.T354I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31879049:31879049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31815984:31815985(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1752_1753delTG |
| AA Mutation |
p.Ser584ArgfsTer22(p.S584Rfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |