| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000307046 |
| Start |
102480319:102480319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.63G>T |
| AA Mutation |
p.Lys21Asn(p.K21N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307046 |
| Start |
102475754:102475754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.109C>A |
| AA Mutation |
p.Leu37Met(p.L37M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000307046 |
| Start |
102475773:102475773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374228630
|
| CDS Mutation |
c.90G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |