| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366757 |
| Start |
227816128:227816128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765433110
|
| CDS Mutation |
c.187G>A |
| AA Mutation |
p.Gly63Ser(p.G63S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366757 |
| Start |
227816207:227816207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.266T>C |
| AA Mutation |
p.Ile89Thr(p.I89T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366757 |
| Start |
227845981:227845981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.754G>T |
| AA Mutation |
p.Glu252Ter(p.E252*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |