| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000322957 |
| Start |
76137995:76137995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.624C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322957 |
| Start |
76140069:76140069(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.327delC |
| AA Mutation |
p.Asp110ThrfsTer11(p.D110Tfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000322957 |
| Start |
76137751:76137752(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.867dupC |
| AA Mutation |
p.Ser290GlnfsTer12(p.S290Qfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |