| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324093 |
| Start |
129565444:129565444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759179980
|
| CDS Mutation |
c.4417G>A |
| AA Mutation |
p.Ala1473Thr(p.A1473T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324093 |
| Start |
129586682:129586682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765540434
|
| CDS Mutation |
c.1526G>A |
| AA Mutation |
p.Arg509Gln(p.R509Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324093 |
| Start |
129571768:129571768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3154G>T |
| AA Mutation |
p.Glu1052Ter(p.E1052*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |