| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215832 |
| Start |
21807737:21807737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.229C>T |
| AA Mutation |
p.Arg77Cys(p.R77C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215832 |
| Start |
21799049:21799049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.572G>A |
| AA Mutation |
p.Arg191His(p.R191H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215832 |
| Start |
21805966:21805966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.376A>T |
| AA Mutation |
p.Ile126Phe(p.I126F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |