| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39712041:39712041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1015G>A |
| AA Mutation |
p.Ala339Thr(p.A339T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39725771:39725771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138957632
|
| CDS Mutation |
c.2790G>T |
| AA Mutation |
p.Glu930Asp(p.E930D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39727713:39727713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767717383
|
| CDS Mutation |
c.3437G>A |
| AA Mutation |
p.Arg1146Gln(p.R1146Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |