| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369489 |
| Start |
116544523:116544523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.152T>A |
| AA Mutation |
p.Leu51Ter(p.L51*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369489 |
| Start |
116536100:116536100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.493C>T |
| AA Mutation |
p.Gln165Ter(p.Q165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369489 |
| Start |
116536039:116536040(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.553dupA |
| AA Mutation |
p.Ile185AsnfsTer6(p.I185Nfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |