| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234590 |
| Start |
8867148:8867148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.413C>T |
| AA Mutation |
p.Ala138Val(p.A138V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000234590 |
| Start |
8862925:8862925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1197C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234590 |
| Start |
8867173:8867173(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.388delC |
| AA Mutation |
p.Leu130CysfsTer40(p.L130Cfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |