| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291532 |
| Start |
42395371:42395371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369418733
|
| CDS Mutation |
c.47G>A |
| AA Mutation |
p.Arg16Gln(p.R16Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291532 |
| Start |
42376617:42376617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1118G>T |
| AA Mutation |
p.Arg373Met(p.R373M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291532 |
| Start |
42395411:42395411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779595310
|
| CDS Mutation |
c.7G>A |
| AA Mutation |
p.Glu3Lys(p.E3K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |