| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113274489:113274489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1349G>A |
| AA Mutation |
p.Arg450Lys(p.R450K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355385 |
| Start |
113279267:113279267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1832G>T |
| AA Mutation |
p.Arg611Met(p.R611M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355385 |
| Start |
113279841:113279841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2038C>T |
| AA Mutation |
p.Arg680Ter(p.R680*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |