| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179234206:179234206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3049G>A |
| AA Mutation |
p.Asp1017Asn(p.D1017N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179234284:179234284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3127A>T |
| AA Mutation |
p.Met1043Leu(p.M1043L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000263967 |
| Start |
179230375:179230375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2935A>G |
| AA Mutation |
p.Arg979Gly(p.R979G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |