| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376741 |
| Start |
47925034:47925034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138122841
|
| CDS Mutation |
c.1488C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376741 |
| Start |
47925444:47925444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1644G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376741 |
| Start |
47916984:47916984(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.918delC |
| AA Mutation |
p.Lys307ArgfsTer88(p.K307Rfs*88) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |