| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420743 |
| Start |
21231063:21231063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.251T>G |
| AA Mutation |
p.Leu84Arg(p.L84R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000420743 |
| Start |
21234185:21234185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000420743 |
| Start |
21211285:21211285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.859G>T |
| AA Mutation |
p.Glu287Ter(p.E287*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |