| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321728 |
| Start |
24094252:24094252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.776T>C |
| AA Mutation |
p.Leu259Ser(p.L259S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321728 |
| Start |
24191226:24191226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1859A>T |
| AA Mutation |
p.Lys620Ile(p.K620I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321728 |
| Start |
24191095:24191095(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1728delG |
| AA Mutation |
p.Met576IlefsTer66(p.M576Ifs*66) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |