| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397890 |
| Start |
5866701:5866701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.95A>T |
| AA Mutation |
p.Tyr32Phe(p.Y32F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000397890 |
| Start |
5851411:5851411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.537C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397890 |
| Start |
5825600:5825600(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1521delA |
| AA Mutation |
p.Ala508LeufsTer39(p.A508Lfs*39) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |