| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229304 |
| Start |
7652668:7652668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745537786
|
| CDS Mutation |
c.212C>T |
| AA Mutation |
p.Thr71Met(p.T71M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000229304 |
| Start |
7652726:7652726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.154C>T |
| AA Mutation |
p.Arg52Ter(p.R52*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229304 |
| Start |
7652672:7652673(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.207dupA |
| AA Mutation |
p.Phe70IlefsTer32(p.F70Ifs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |