| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321765 |
| Start |
28592133:28592133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1111G>T |
| AA Mutation |
p.Asp371Tyr(p.D371Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321765 |
| Start |
28579758:28579758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2877G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321765 |
| Start |
28585908:28585908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1696G>T |
| AA Mutation |
p.Glu566Ter(p.E566*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |