| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000356940 |
| Start |
27504437:27504437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.68G>C |
| AA Mutation |
p.Ser23Thr(p.S23T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356940 |
| Start |
27537899:27537899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.469G>A |
| AA Mutation |
p.Gly157Ser(p.G157S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356940 |
| Start |
27532544:27532544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.224C>T |
| AA Mutation |
p.Pro75Leu(p.P75L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |