| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230588 |
| Start |
46835399:46835399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1934A>T |
| AA Mutation |
p.Gln645Leu(p.Q645L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000230588 |
| Start |
46819575:46819575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.427A>G |
| AA Mutation |
p.Ile143Val(p.I143V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230588 |
| Start |
46826385:46826385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.810T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |