| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269141 |
| Start |
27990344:27990344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773021925
|
| CDS Mutation |
c.1351G>A |
| AA Mutation |
p.Asp451Asn(p.D451N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269141 |
| Start |
27992711:27992711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199882009
|
| CDS Mutation |
c.1288C>T |
| AA Mutation |
p.Arg430Trp(p.R430W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269141 |
| Start |
27992705:27992705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1294G>A |
| AA Mutation |
p.Ala432Thr(p.A432T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |