| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000263265 |
| Start |
48854219:48854219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1093G>T |
| AA Mutation |
p.Asp365Tyr(p.D365Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263265 |
| Start |
48859030:48859030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802C>T |
| AA Mutation |
p.Arg268Ter(p.R268*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000263265 |
| Start |
48852262:48852273(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1380_1391delCTTAAGAGAGAC |
| AA Mutation |
p.Arg462_Leu465del(p.R462_L465del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |