| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318974 |
| Start |
6955415:6955415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781935337
|
| CDS Mutation |
c.677G>A |
| AA Mutation |
p.Arg226Gln(p.R226Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318974 |
| Start |
6957767:6957767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1188G>T |
| AA Mutation |
p.Gln396His(p.Q396H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318974 |
| Start |
6952139:6952139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.288C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |