| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287497 |
| Start |
31330589:31330589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3260C>T |
| AA Mutation |
p.Ala1087Val(p.A1087V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000287497 |
| Start |
31297745:31297745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1498A>T |
| AA Mutation |
p.Arg500Trp(p.R500W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287497 |
| Start |
31329895:31329895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2966C>T |
| AA Mutation |
p.Thr989Ile(p.T989I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |