| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222598 |
| Start |
97020794:97020794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.812T>A |
| AA Mutation |
p.Leu271Gln(p.L271Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222598 |
| Start |
97024376:97024376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.248C>A |
| AA Mutation |
p.Ser83Tyr(p.S83Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222598 |
| Start |
97024375:97024375(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.249delC |
| AA Mutation |
p.Ala84ProfsTer39(p.A84Pfs*39) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |