| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317508 |
| Start |
31132907:31132907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.313C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317508 |
| Start |
31135417:31135418(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.81dupG |
| AA Mutation |
p.Thr28AspfsTer38(p.T28Dfs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000317508 |
| Start |
31132526:31132531(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.603_608delTAACTG |
| AA Mutation |
p.Asn202_Cys203del(p.N202_C203del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |