| ID |
4 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000247191 |
| Start |
55183561:55183561(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.431delA |
| AA Mutation |
p.Lys144ArgfsTer55(p.K144Rfs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247191 |
| Start |
55183649:55183649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766933512
|
| CDS Mutation |
c.343C>T |
| AA Mutation |
p.Arg115Ter(p.R115*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000247191 |
| Start |
55177258:55177259(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.852_853insTCTGTTTTTAAA |
| AA Mutation |
p.Asp284_Gly285insSerValPheLys(p.D284_G285insSVFK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |