| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344743 |
| Start |
58712807:58712807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.269T>C |
| AA Mutation |
p.Leu90Pro(p.L90P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344743 |
| Start |
58710063:58710063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749236606
|
| CDS Mutation |
c.594G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344743 |
| Start |
58709833:58709834(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.823dupA |
| AA Mutation |
p.Met275AsnfsTer39(p.M275Nfs*39) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |