| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358597 |
| Start |
47488895:47488895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.120T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358597 |
| Start |
47488896:47488899(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.116_119delATGG |
| AA Mutation |
p.Tyr39LeufsTer9(p.Y39Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358597 |
| Start |
47473192:47473193(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1228dupC |
| AA Mutation |
p.Gln410ProfsTer5(p.Q410Pfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |