| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255008 |
| Start |
23036259:23036259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.776G>A |
| AA Mutation |
p.Arg259Lys(p.R259K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255008 |
| Start |
23035991:23035991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.508G>T |
| AA Mutation |
p.Val170Leu(p.V170L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255008 |
| Start |
23036366:23036366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.883G>A |
| AA Mutation |
p.Val295Met(p.V295M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |