| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000529419 |
| Start |
13010502:13010502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.926C>G |
| AA Mutation |
p.Pro309Arg(p.P309R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000529419 |
| Start |
13010205:13010205(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.629delG |
| AA Mutation |
p.Cys210SerfsTer101(p.C210Sfs*101) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000529419 |
| Start |
13009578:13009578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2T>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |