| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383168 |
| Start |
26861138:26861138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605T>C |
| AA Mutation |
p.Leu202Ser(p.L202S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000383168 |
| Start |
26856313:26856313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.870T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000383168 |
| Start |
26862253:26862253(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.376delG |
| AA Mutation |
p.Ala126ProfsTer39(p.A126Pfs*39) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |