| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000228916 |
| Start |
6349220:6349220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201693951
|
| CDS Mutation |
c.1441G>A |
| AA Mutation |
p.Val481Met(p.V481M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228916 |
| Start |
6348093:6348093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202038572
|
| CDS Mutation |
c.1790G>A |
| AA Mutation |
p.Arg597Gln(p.R597Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000228916 |
| Start |
6348076:6348076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766773131
|
| CDS Mutation |
c.1807C>T |
| AA Mutation |
p.Gln603Ter(p.Q603*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |