| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302763 |
| Start |
138924611:138924611(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1648G>T |
| AA Mutation |
p.Ala550Ser(p.A550S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302763 |
| Start |
138934047:138934047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs1059181
|
| CDS Mutation |
c.2679G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000302763 |
| Start |
138930563:138930563(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2101G>T |
| AA Mutation |
p.Glu701Ter(p.E701*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |