| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327155 |
| Start |
22936889:22936889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.38C>G |
| AA Mutation |
p.Ser13Cys(p.S13C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327155 |
| Start |
22993433:22993433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1606C>T |
| AA Mutation |
p.Arg536Cys(p.R536C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327155 |
| Start |
22992998:22992998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1171G>A |
| AA Mutation |
p.Gly391Arg(p.G391R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |