| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000355962 |
| Start |
71568283:71568283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1226G>T |
| AA Mutation |
p.Cys409Phe(p.C409F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355962 |
| Start |
71572596:71572596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.501T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355962 |
| Start |
71570753:71570754(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.837dupC |
| AA Mutation |
p.Lys280GlnfsTer17(p.K280Qfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |