| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254079 |
| Start |
39633936:39633936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295A>C |
| AA Mutation |
p.Asn99His(p.N99H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254079 |
| Start |
39630008:39630008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.202A>G |
| AA Mutation |
p.Arg68Gly(p.R68G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000254079 |
| Start |
39629552:39629552(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.160delC |
| AA Mutation |
p.His54ThrfsTer26(p.H54Tfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |