| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374037 |
| Start |
34539344:34539344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200580057
|
| CDS Mutation |
c.735C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374037 |
| Start |
34544396:34544396(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.60delC |
| AA Mutation |
p.Asp21ThrfsTer92(p.D21Tfs*92) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374037 |
| Start |
34541135:34541135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.483G>A |
| AA Mutation |
p.Trp161Ter(p.W161*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |