| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370747 |
| Start |
78659324:78659324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.853G>A |
| AA Mutation |
p.Glu285Lys(p.E285K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370747 |
| Start |
78650212:78650212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148272007
|
| CDS Mutation |
c.17G>A |
| AA Mutation |
p.Arg6His(p.R6H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370747 |
| Start |
78663802:78663802(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1332delA |
| AA Mutation |
p.Lys444AsnfsTer17(p.K444Nfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |