| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359486 |
| Start |
42214961:42214961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359486 |
| Start |
42214960:42214960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.346C>T |
| AA Mutation |
p.Gln116Ter(p.Q116*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359486 |
| Start |
42212020:42212020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3286G>T |
| AA Mutation |
p.Glu1096Ter(p.E1096*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |