| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371100 |
| Start |
58854097:58854097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748957817
|
| CDS Mutation |
c.832C>T |
| AA Mutation |
p.Pro278Ser(p.P278S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371085 |
| Start |
58909181:58909181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550G>A |
| AA Mutation |
p.Val184Met(p.V184M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371100 |
| Start |
58855190:58855190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1925C>T |
| AA Mutation |
p.Ala642Val(p.A642V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |