| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000190983 |
| Start |
44727130:44727130(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.579delC |
| AA Mutation |
p.Cys194AlafsTer108(p.C194Afs*108) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000190983 |
| Start |
44727224:44727224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.670C>T |
| AA Mutation |
p.Arg224Ter(p.R224*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000190983 |
| Start |
44720085:44720086(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.252dupC |
| AA Mutation |
p.Gly85ArgfsTer17(p.G85Rfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |