| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296550 |
| Start |
150256082:150256082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2136G>C |
| AA Mutation |
p.Arg712Ser(p.R712S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296550 |
| Start |
150232378:150232378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1341G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296550 |
| Start |
150102531:150102531(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.479delA |
| AA Mutation |
p.Asn160IlefsTer8(p.N160Ifs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |