| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336219 |
| Start |
105011623:105011623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555120853
|
| CDS Mutation |
c.307C>T |
| AA Mutation |
p.Arg103Cys(p.R103C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336219 |
| Start |
105011691:105011691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.239G>A |
| AA Mutation |
p.Arg80His(p.R80H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336219 |
| Start |
105011328:105011328(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.602delG |
| AA Mutation |
p.Gly201ValfsTer46(p.G201Vfs*46) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |