| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140563180:140563180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs560530846
|
| CDS Mutation |
c.2459G>A |
| AA Mutation |
p.Arg820Gln(p.R820Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140558821:140558821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137889465
|
| CDS Mutation |
c.2005G>A |
| AA Mutation |
p.Ala669Thr(p.A669T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458420 |
| Start |
140558738:140558738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1922A>C |
| AA Mutation |
p.Asp641Ala(p.D641A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |