| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33320886:33320886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.889G>T |
| AA Mutation |
p.Ala297Ser(p.A297S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33321025:33321025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.750C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266000 |
| Start |
33320938:33320938(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.837delG |
| AA Mutation |
p.Pro280LeufsTer14(p.P280Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |