| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119274909:119274909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751768529
|
| CDS Mutation |
c.825C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119285017:119285017(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1484delC |
| AA Mutation |
p.Pro495ArgfsTer120(p.P495Rfs*120) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000264033 |
| Start |
119276136:119276136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1007+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |