| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000422440 |
| Start |
171793682:171793682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1391C>A |
| AA Mutation |
p.Pro464His(p.P464H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000422440 |
| Start |
171785457:171785457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1854A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000422440 |
| Start |
171844380:171844380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.454C>T |
| AA Mutation |
p.Gln152Ter(p.Q152*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |