| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216492 |
| Start |
92932566:92932566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1005G>C |
| AA Mutation |
p.Glu335Asp(p.E335D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216492 |
| Start |
92932736:92932736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs9658669
|
| CDS Mutation |
c.1175G>A |
| AA Mutation |
p.Arg392Gln(p.R392Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000216492 |
| Start |
92932377:92932377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772213323
|
| CDS Mutation |
c.816G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |