| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338745 |
| Start |
18420867:18420867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.101A>C |
| AA Mutation |
p.Glu34Ala(p.E34A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338745 |
| Start |
18415192:18415192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.558C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338745 |
| Start |
18378301:18378301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1444G>T |
| AA Mutation |
p.Glu482Ter(p.E482*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |