| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370689 |
| Start |
84235274:84235274(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1029delA |
| AA Mutation |
p.Lys343AsnfsTer17(p.K343Nfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370689 |
| Start |
84184115:84184115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.316C>T |
| AA Mutation |
p.Arg106Ter(p.R106*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370689 |
| Start |
84179214:84179215(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.90dupA |
| AA Mutation |
p.Trp31MetfsTer8(p.W31Mfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |