| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336098 |
| Start |
154612073:154612073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.252A>C |
| AA Mutation |
p.Lys84Asn(p.K84N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336098 |
| Start |
154609760:154609760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.536G>A |
| AA Mutation |
p.Cys179Tyr(p.C179Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336098 |
| Start |
154605050:154605050(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1146delA |
| AA Mutation |
p.Ala383HisfsTer23(p.A383Hfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |