| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313401 |
| Start |
32487920:32487920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.300G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313401 |
| Start |
32488298:32488298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.678G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313401 |
| Start |
32488129:32488129(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.513delC |
| AA Mutation |
p.Thr172ArgfsTer56(p.T172Rfs*56) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |