| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000298841 |
| Start |
94564094:94564094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371042106
|
| CDS Mutation |
c.612C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000298841 |
| Start |
94569533:94569533(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1225delT |
| AA Mutation |
p.Ser409ProfsTer73(p.S409Pfs*73) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000298841 |
| Start |
94567223:94567223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.903G>A |
| AA Mutation |
p.Trp301Ter(p.W301*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |