| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330753 |
| Start |
85622795:85622795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1281C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330753 |
| Start |
85622899:85622899(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1385delT |
| AA Mutation |
p.Val462GlufsTer9(p.V462Efs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330753 |
| Start |
85623455:85623455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1941C>G |
| AA Mutation |
p.Tyr647Ter(p.Y647*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |