| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372782 |
| Start |
101883518:101883518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1909G>T |
| AA Mutation |
p.Gly637Ter(p.G637*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372782 |
| Start |
101884364:101884364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1063A>T |
| AA Mutation |
p.Arg355Ter(p.R355*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000372782 |
| Start |
101884764:101884775(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.652_663delGACTCTTACCAA |
| AA Mutation |
p.Asp218_Gln221del(p.D218_Q221del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |