| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263317 |
| Start |
89400060:89400060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1031C>T |
| AA Mutation |
p.Pro344Leu(p.P344L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263317 |
| Start |
89400356:89400356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.870T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263317 |
| Start |
89355035:89355035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374112961
|
| CDS Mutation |
c.1144C>T |
| AA Mutation |
p.Arg382Ter(p.R382*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |