Gene >> RSRC2
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331738 |
| Start |
122511163:122511163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.751G>C |
| AA Mutation |
p.Glu251Gln(p.E251Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331738 |
| Start |
122505595:122505595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1237C>T |
| AA Mutation |
p.Gln413Ter(p.Q413*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |