| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000410111 |
| Start |
86159590:86159590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.978T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000410111 |
| Start |
86173681:86173681(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.390delA |
| AA Mutation |
p.Lys130AsnfsTer40(p.K130Nfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000410111 |
| Start |
86144510:86144510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2035G>T |
| AA Mutation |
p.Glu679Ter(p.E679*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |