| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134382825:134382825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368413334
|
| CDS Mutation |
c.803G>A |
| AA Mutation |
p.Arg268Gln(p.R268Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134383876:134383876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.425C>T |
| AA Mutation |
p.Thr142Met(p.T142M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312527 |
| Start |
134383686:134383686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.615C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |