| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303225 |
| Start |
5844824:5844824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.16G>A |
| AA Mutation |
p.Ala6Thr(p.A6T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000303225 |
| Start |
5844573:5844573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773938439
|
| CDS Mutation |
c.267C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303225 |
| Start |
5844452:5844453(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.387dupG |
| AA Mutation |
p.Gln130AlafsTer13(p.Q130Afs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |