| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000612778 |
| Start |
155188036:155188036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.943T>A |
| AA Mutation |
p.Phe315Ile(p.F315I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000612778 |
| Start |
155188331:155188331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.747C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000612778 |
| Start |
155188308:155188317(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.761_770delTCACCTCCTC |
| AA Mutation |
p.Leu254ProfsTer76(p.L254Pfs*76) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |