| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261531 |
| Start |
77751405:77751405(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.244delA |
| AA Mutation |
p.Met82CysfsTer44(p.M82Cfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261531 |
| Start |
77731087:77731087(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934delA |
| AA Mutation |
p.Met312TrpfsTer152(p.M312Wfs*152) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261531 |
| Start |
77732500:77732500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.876C>A |
| AA Mutation |
p.Tyr292Ter(p.Y292*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |