| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252456 |
| Start |
11541182:11541182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.170G>A |
| AA Mutation |
p.Gly57Asp(p.G57D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252456 |
| Start |
11547887:11547887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148076740
|
| CDS Mutation |
c.481C>T |
| AA Mutation |
p.Arg161Trp(p.R161W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252456 |
| Start |
11541144:11541144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.132T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |