| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302516 |
| Start |
70571158:70571158(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3472C>T |
| AA Mutation |
p.Arg1158Trp(p.R1158W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000302516 |
| Start |
70554492:70554492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1449A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000302516 |
| Start |
70571197:70571197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3511A>T |
| AA Mutation |
p.Lys1171Ter(p.K1171*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |