| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299759 |
| Start |
66925154:66925154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.26G>T |
| AA Mutation |
p.Gly9Val(p.G9V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299759 |
| Start |
66922094:66922094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555745066
|
| CDS Mutation |
c.909C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299759 |
| Start |
66922192:66922192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.811C>T |
| AA Mutation |
p.Arg271Ter(p.R271*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |