| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265056 |
| Start |
127606294:127606294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766530339
|
| CDS Mutation |
c.850C>T |
| AA Mutation |
p.Arg284Cys(p.R284C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265056 |
| Start |
127599318:127599318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7G>A |
| AA Mutation |
p.Glu3Lys(p.E3K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265056 |
| Start |
127621097:127621097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771601773
|
| CDS Mutation |
c.2473C>T |
| AA Mutation |
p.Arg825Trp(p.R825W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |