| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253381 |
| Start |
31372925:31372925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761656795
|
| CDS Mutation |
c.127G>T |
| AA Mutation |
p.Ala43Ser(p.A43S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253381 |
| Start |
31372954:31372954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.156A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000253381 |
| Start |
31372869:31372869(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs756355406
|
| CDS Mutation |
c.78delA |
| AA Mutation |
p.Lys26AsnfsTer19(p.K26Nfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |