| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271971 |
| Start |
230774567:230774567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759944848
|
| CDS Mutation |
c.889C>T |
| AA Mutation |
p.Arg297Cys(p.R297C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271971 |
| Start |
230767583:230767583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372361365
|
| CDS Mutation |
c.579C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000271971 |
| Start |
230780611:230780611(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs778837710
|
| CDS Mutation |
c.1388delC |
| AA Mutation |
p.Pro463LeufsTer6(p.P463Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |