| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264010 |
| Start |
67626606:67626606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1409G>A |
| AA Mutation |
p.Arg470His(p.R470H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264010 |
| Start |
67616774:67616774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.982G>T |
| AA Mutation |
p.Asp328Tyr(p.D328Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264010 |
| Start |
67611435:67611436(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.610dupA |
| AA Mutation |
p.Thr204AsnfsTer26(p.T204Nfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |