| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284523 |
| Start |
228059283:228059283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.877C>T |
| AA Mutation |
p.Arg293Cys(p.R293C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284523 |
| Start |
228022755:228022755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.160C>T |
| AA Mutation |
p.Arg54Cys(p.R54C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284523 |
| Start |
228050831:228050831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.489G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |