| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394249 |
| Start |
90974599:90974599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1336G>A |
| AA Mutation |
p.Ala446Thr(p.A446T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394249 |
| Start |
90981559:90981559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745615333
|
| CDS Mutation |
c.612C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394249 |
| Start |
90974174:90974174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1423C>T |
| AA Mutation |
p.Arg475Ter(p.R475*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |