| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20379187:20379187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.525A>T |
| AA Mutation |
p.Arg175Ser(p.R175S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20406080:20406080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1932T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222573 |
| Start |
20398870:20398870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1157C>A |
| AA Mutation |
p.Ser386Ter(p.S386*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |