| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368376 |
| Start |
155208977:155208977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.173C>T |
| AA Mutation |
p.Thr58Met(p.T58M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368376 |
| Start |
155208820:155208820(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs755845788
|
| CDS Mutation |
c.22delC |
| AA Mutation |
p.Arg8AlafsTer110(p.R8Afs*110) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368376 |
| Start |
155208937:155208937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.133G>T |
| AA Mutation |
p.Glu45Ter(p.E45*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |