| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69624152:69624152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1805G>A |
| AA Mutation |
p.Ser602Asn(p.S602N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260128 |
| Start |
69638818:69638818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2511A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260128 |
| Start |
69638813:69638813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2506C>T |
| AA Mutation |
p.Gln836Ter(p.Q836*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |