| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49171764:49171764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045G>T |
| AA Mutation |
p.Ala349Ser(p.A349S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49200722:49200722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2890C>T |
| AA Mutation |
p.Arg964Cys(p.R964C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49210396:49210396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3319G>A |
| AA Mutation |
p.Glu1107Lys(p.E1107K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |