| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000519065 |
| Start |
113959931:113959931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.140G>A |
| AA Mutation |
p.Gly47Asp(p.G47D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000519065 |
| Start |
113945410:113945410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1043C>A |
| AA Mutation |
p.Pro348His(p.P348H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000519065 |
| Start |
113943504:113943504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267600769
|
| CDS Mutation |
c.1225C>T |
| AA Mutation |
p.Arg409Ter(p.R409*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |