| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373510 |
| Start |
32593617:32593617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201447099
|
| CDS Mutation |
c.686G>A |
| AA Mutation |
p.Arg229Gln(p.R229Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373510 |
| Start |
32595096:32595096(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.866A>C |
| AA Mutation |
p.His289Pro(p.H289P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373510 |
| Start |
32593553:32593553(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.626delA |
| AA Mutation |
p.Lys209ArgfsTer5(p.K209Rfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |