| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261776 |
| Start |
70762591:70762591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs78503253
|
| CDS Mutation |
c.1320G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261776 |
| Start |
70744532:70744532(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1419delC |
| AA Mutation |
p.Ala474GlnfsTer33(p.A474Qfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261776 |
| Start |
70731628:70731628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1529-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |