| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356073 |
| Start |
55228987:55228987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121909121
|
| CDS Mutation |
c.1727G>A |
| AA Mutation |
p.Arg576Gln(p.R576Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356073 |
| Start |
55350383:55350383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.525A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356073 |
| Start |
55350398:55350401(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.507_510delGACA |
| AA Mutation |
p.Thr170ArgfsTer63(p.T170Rfs*63) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |