| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367142 |
| Start |
205718333:205718333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764048321
|
| CDS Mutation |
c.679G>A |
| AA Mutation |
p.Glu227Lys(p.E227K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367142 |
| Start |
205719663:205719663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs535311662
|
| CDS Mutation |
c.396C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367142 |
| Start |
205718414:205718414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.598G>T |
| AA Mutation |
p.Glu200Ter(p.E200*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |