| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397128 |
| Start |
40767473:40767473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.814G>T |
| AA Mutation |
p.Asp272Tyr(p.D272Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397128 |
| Start |
40764525:40764525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761385811
|
| CDS Mutation |
c.1424G>A |
| AA Mutation |
p.Arg475His(p.R475H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397128 |
| Start |
40769470:40769470(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.542delT |
| AA Mutation |
p.Leu181Ter(p.L181*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |