| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268035 |
| Start |
98707585:98707585(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.118C>T |
| AA Mutation |
p.Arg40Cys(p.R40C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268035 |
| Start |
98891407:98891407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370559574
|
| CDS Mutation |
c.723G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268035 |
| Start |
98899580:98899580(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1211delA |
| AA Mutation |
p.Asn404ThrfsTer6(p.N404Tfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |