| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299964 |
| Start |
114312141:114312141(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.459C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299964 |
| Start |
114312324:114312324(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.646delC |
| AA Mutation |
p.Leu216TrpfsTer6(p.L216Wfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299964 |
| Start |
114298070:114298070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.274C>T |
| AA Mutation |
p.Gln92Ter(p.Q92*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |