| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381375 |
| Start |
55124949:55124949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1069G>T |
| AA Mutation |
p.Ala357Ser(p.A357S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381375 |
| Start |
55146765:55146765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.218T>G |
| AA Mutation |
p.Ile73Ser(p.I73S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000381375 |
| Start |
55172649:55172649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.65A>G |
| AA Mutation |
p.Glu22Gly(p.E22G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |