| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335154 |
| Start |
49650710:49650710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770930654
|
| CDS Mutation |
c.1966C>T |
| AA Mutation |
p.Arg656Cys(p.R656C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335154 |
| Start |
49662039:49662039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.379G>A |
| AA Mutation |
p.Glu127Lys(p.E127K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335154 |
| Start |
49657170:49657170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202178648
|
| CDS Mutation |
c.626G>A |
| AA Mutation |
p.Arg209His(p.R209H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |