| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379959 |
| Start |
6021628:6021628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.433G>T |
| AA Mutation |
p.Gly145Trp(p.G145W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379959 |
| Start |
6021661:6021661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.400G>A |
| AA Mutation |
p.Glu134Lys(p.E134K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379959 |
| Start |
6025910:6025910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs74162093
|
| CDS Mutation |
c.180C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |