| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553532 |
| Start |
56431585:56431585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.707G>A |
| AA Mutation |
p.Gly236Glu(p.G236E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553532 |
| Start |
56418199:56418199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145585280
|
| CDS Mutation |
c.3389G>A |
| AA Mutation |
p.Arg1130Gln(p.R1130Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553532 |
| Start |
56433416:56433416(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.394G>T |
| AA Mutation |
p.Val132Phe(p.V132F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |