| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259782 |
| Start |
54326851:54326851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.559G>T |
| AA Mutation |
p.Gly187Cys(p.G187C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259782 |
| Start |
54354633:54354633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1247C>T |
| AA Mutation |
p.Thr416Ile(p.T416I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000259782 |
| Start |
54321364:54321364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.487C>T |
| AA Mutation |
p.Gln163Ter(p.Q163*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |