| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20815748:20815748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10C>A |
| AA Mutation |
p.His4Asn(p.H4N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20861048:20861048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374152690
|
| CDS Mutation |
c.391C>A |
| AA Mutation |
p.Pro131Thr(p.P131T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20855109:20855109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.166G>A |
| AA Mutation |
p.Glu56Lys(p.E56K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |