| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265997 |
| Start |
92052223:92052223(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761798097
|
| CDS Mutation |
c.2086C>T |
| AA Mutation |
p.Arg696Cys(p.R696C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265997 |
| Start |
92239480:92239480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.871C>T |
| AA Mutation |
p.Pro291Ser(p.P291S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265997 |
| Start |
92145068:92145068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1240A>T |
| AA Mutation |
p.Ser414Cys(p.S414C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |