| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264709 |
| Start |
25275051:25275051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.529G>C |
| AA Mutation |
p.Glu177Gln(p.E177Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264709 |
| Start |
25239171:25239171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2367C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264709 |
| Start |
25282562:25282562(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.327delG |
| AA Mutation |
p.Gln110ArgfsTer52(p.Q110Rfs*52) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |