| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374893 |
| Start |
21256036:21256036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.931G>C |
| AA Mutation |
p.Glu311Gln(p.E311Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374893 |
| Start |
21227971:21227971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752979342
|
| CDS Mutation |
c.1741G>A |
| AA Mutation |
p.Gly581Arg(p.G581R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374893 |
| Start |
21260342:21260342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.544T>C |
| AA Mutation |
p.Tyr182His(p.Y182H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |