| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397033 |
| Start |
181482612:181482612(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1002A>T |
| AA Mutation |
p.Arg334Ser(p.R334S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397033 |
| Start |
181458253:181458253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780323276
|
| CDS Mutation |
c.255C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397033 |
| Start |
181475176:181475177(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.449dupA |
| AA Mutation |
p.Asn150LysfsTer8(p.N150Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |