| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296677 |
| Start |
76833172:76833172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370384052
|
| CDS Mutation |
c.565A>G |
| AA Mutation |
p.Asn189Asp(p.N189D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296677 |
| Start |
76833415:76833415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369747168
|
| CDS Mutation |
c.808C>T |
| AA Mutation |
p.Arg270Ter(p.R270*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000296677 |
| Start |
76832689:76832689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.83-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |