| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326442 |
| Start |
150796490:150796490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.80T>C |
| AA Mutation |
p.Ile27Thr(p.I27T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326442 |
| Start |
150793107:150793107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.581C>T |
| AA Mutation |
p.Ala194Val(p.A194V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326442 |
| Start |
150796498:150796498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181849033
|
| CDS Mutation |
c.72C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |