| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330514 |
| Start |
44804990:44804990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.828T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330514 |
| Start |
44804955:44804955(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.863delC |
| AA Mutation |
p.Pro288LeufsTer124(p.P288Lfs*124) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000330514 |
| Start |
44805839:44805839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-20-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |