| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000270139 |
| Start |
33355448:33355448(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1578delA |
| AA Mutation |
p.Lys526AsnfsTer36(p.K526Nfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000270139 |
| Start |
33349095:33349095(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.797delT |
| AA Mutation |
p.Leu266Ter(p.L266*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000270139 |
| Start |
33349263:33349263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.961G>T |
| AA Mutation |
p.Glu321Ter(p.E321*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |