| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359128 |
| Start |
3563510:3563510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1427T>A |
| AA Mutation |
p.Phe476Tyr(p.F476Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359128 |
| Start |
3563190:3563190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774299870
|
| CDS Mutation |
c.1747G>A |
| AA Mutation |
p.Val583Met(p.V583M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359128 |
| Start |
3563088:3563088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1849G>A |
| AA Mutation |
p.Glu617Lys(p.E617K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |