| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246785 |
| Start |
49668867:49668867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.519C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246785 |
| Start |
49667082:49667082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.423C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000246785 |
| Start |
49670339:49670339(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.809delC |
| AA Mutation |
p.Pro270ArgfsTer13(p.P270Rfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |