| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000164227 |
| Start |
44758793:44758793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1129C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000164227 |
| Start |
44759586:44759586(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1341delC |
| AA Mutation |
p.Ser448ProfsTer34(p.S448Pfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000164227 |
| Start |
44759469:44759469(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1224delC |
| AA Mutation |
p.Arg409GlyfsTer73(p.R409Gfs*73) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |