| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255465 |
| Start |
36440146:36440146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267603812
|
| CDS Mutation |
c.1061G>A |
| AA Mutation |
p.Arg354Gln(p.R354Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255465 |
| Start |
36438123:36438123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.601C>A |
| AA Mutation |
p.Leu201Ile(p.L201I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255465 |
| Start |
36437696:36437696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.365T>A |
| AA Mutation |
p.Leu122His(p.L122H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |