| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000352210 |
| Start |
161170498:161170498(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1082delC |
| AA Mutation |
p.Pro361LeufsTer5(p.P361Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000352210 |
| Start |
161168014:161168014(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.363delC |
| AA Mutation |
p.Phe122SerfsTer10(p.F122Sfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000352210 |
| Start |
161170408:161170408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.988-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |