| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399799 |
| Start |
21045437:21045437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.445C>T |
| AA Mutation |
p.Leu149Phe(p.L149F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399799 |
| Start |
20982824:20982824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2498G>A |
| AA Mutation |
p.Arg833Lys(p.R833K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399799 |
| Start |
21028841:21028841(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1146delT |
| AA Mutation |
p.Ile383PhefsTer13(p.I383Ffs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |