| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120226669:120226669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771290485
|
| CDS Mutation |
c.1907C>T |
| AA Mutation |
p.Thr636Met(p.T636M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120270139:120270139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3178G>A |
| AA Mutation |
p.Gly1060Arg(p.G1060R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000297848 |
| Start |
120283768:120283768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3957T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |