| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361824 |
| Start |
150714105:150714105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.259G>A |
| AA Mutation |
p.Asp87Asn(p.D87N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361824 |
| Start |
150706800:150706800(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.557delC |
| AA Mutation |
p.Pro186GlnfsTer25(p.P186Qfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361824 |
| Start |
150704300:150704300(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.848delA |
| AA Mutation |
p.Asn283ThrfsTer12(p.N283Tfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |