| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381259 |
| Start |
28452517:28452517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760444503
|
| CDS Mutation |
c.964G>A |
| AA Mutation |
p.Val322Ile(p.V322I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381259 |
| Start |
28450376:28450376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.882A>C |
| AA Mutation |
p.Glu294Asp(p.E294D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000381259 |
| Start |
28306918:28306918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.444T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |