| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350051 |
| Start |
78223546:78223546(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.421A>G |
| AA Mutation |
p.Met141Val(p.M141V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350051 |
| Start |
78223542:78223542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.417T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350051 |
| Start |
78214335:78214335(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.23delC |
| AA Mutation |
p.Pro8LeufsTer67(p.P8Lfs*67) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |