| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000202556 |
| Start |
103738758:103738758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773911225
|
| CDS Mutation |
c.2785G>A |
| AA Mutation |
p.Val929Ile(p.V929I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000202556 |
| Start |
103740402:103740402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2014C>T |
| AA Mutation |
p.Pro672Ser(p.P672S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000202556 |
| Start |
103749798:103749799(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.964dupA |
| AA Mutation |
p.Ile322AsnfsTer64(p.I322Nfs*64) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |