| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233121 |
| Start |
27024147:27024147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319T>A |
| AA Mutation |
p.Phe107Ile(p.F107I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233121 |
| Start |
27025611:27025611(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.503delA |
| AA Mutation |
p.Asn168ThrfsTer8(p.N168Tfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233121 |
| Start |
27024179:27024179(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.353delA |
| AA Mutation |
p.Asn118ThrfsTer18(p.N118Tfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |