| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381950 |
| Start |
38828183:38828183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1291G>T |
| AA Mutation |
p.Val431Leu(p.V431L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381950 |
| Start |
38829253:38829253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.221T>C |
| AA Mutation |
p.Phe74Ser(p.F74S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381950 |
| Start |
38828066:38828066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs55833598
|
| CDS Mutation |
c.1408G>A |
| AA Mutation |
p.Val470Ile(p.V470I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |