| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354725 |
| Start |
128089646:128089646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2576G>A |
| AA Mutation |
p.Gly859Glu(p.G859E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000354725 |
| Start |
128081360:128081360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1969G>C |
| AA Mutation |
p.Val657Leu(p.V657L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354725 |
| Start |
127707575:127707575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.966G>T |
| AA Mutation |
p.Arg322Ser(p.R322S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |