| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122592506:122592506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2411G>C |
| AA Mutation |
p.Gly804Ala(p.G804A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122631039:122631039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5717C>A |
| AA Mutation |
p.Thr1906Asn(p.T1906N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122598923:122598923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3106T>C |
| AA Mutation |
p.Cys1036Arg(p.C1036R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |