| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233813 |
| Start |
216678879:216678879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.538G>A |
| AA Mutation |
p.Ala180Thr(p.A180T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233813 |
| Start |
216678194:216678194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605A>C |
| AA Mutation |
p.Glu202Ala(p.E202A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233813 |
| Start |
216694559:216694559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.217C>T |
| AA Mutation |
p.Arg73Cys(p.R73C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |