| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20858475:20858475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.263G>C |
| AA Mutation |
p.Gly88Ala(p.G88A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20861138:20861138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778780143
|
| CDS Mutation |
c.481G>A |
| AA Mutation |
p.Asp161Asn(p.D161N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261196 |
| Start |
20862467:20862467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.537G>A |
| AA Mutation |
p.Met179Ile(p.M179I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |