| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397356 |
| Start |
1809794:1809794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.787C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397356 |
| Start |
1817175:1817175(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.638delC |
| AA Mutation |
p.Pro213ArgfsTer61(p.P213Rfs*61) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000397356 |
| Start |
1816995:1816995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |