| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296499 |
| Start |
118224603:118224603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1652C>T |
| AA Mutation |
p.Thr551Ile(p.T551I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296499 |
| Start |
118240675:118240675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2270T>C |
| AA Mutation |
p.Val757Ala(p.V757A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296499 |
| Start |
118054722:118054722(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.816delT |
| AA Mutation |
p.Phe272LeufsTer5(p.F272Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |