| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359558 |
| Start |
93426479:93426479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1404G>T |
| AA Mutation |
p.Glu468Asp(p.E468D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359558 |
| Start |
93443659:93443659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781038636
|
| CDS Mutation |
c.849C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359558 |
| Start |
93443640:93443640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.868A>T |
| AA Mutation |
p.Lys290Ter(p.K290*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |