| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000481739 |
| Start |
134401643:134401643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.40C>A |
| AA Mutation |
p.Gln14Lys(p.Q14K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000481739 |
| Start |
134401644:134401644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.41A>T |
| AA Mutation |
p.Gln14Leu(p.Q14L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000481739 |
| Start |
134436505:134436505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1280C>T |
| AA Mutation |
p.Ser427Phe(p.S427F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |