| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389506 |
| Start |
118476949:118476949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3301C>T |
| AA Mutation |
p.Arg1101Ter(p.R1101*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389506 |
| Start |
118471731:118471731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.572C>G |
| AA Mutation |
p.Ser191Ter(p.S191*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389506 |
| Start |
118472295:118472296(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1142dupA |
| AA Mutation |
p.Ala383GlyfsTer6(p.A383Gfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |