| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301964 |
| Start |
9789842:9789842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.329C>G |
| AA Mutation |
p.Ala110Gly(p.A110G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_retained_variant |
| Transcription ID |
ENST00000301964 |
| Start |
9780357:9780357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1299G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301964 |
| Start |
9789883:9789883(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.288delC |
| AA Mutation |
p.Lys97AsnfsTer81(p.K97Nfs*81) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |