| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266509 |
| Start |
20750726:20750726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1850T>C |
| AA Mutation |
p.Leu617Pro(p.L617P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266509 |
| Start |
20706050:20706050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.373C>T |
| AA Mutation |
p.Leu125Phe(p.L125F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266509 |
| Start |
20740208:20740211(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1573_1576delGGAA |
| AA Mutation |
p.Gly525LeufsTer12(p.G525Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |