| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31379757:31379757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775306923
|
| CDS Mutation |
c.2869G>T |
| AA Mutation |
p.Val957Phe(p.V957F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31371161:31371161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1788G>T |
| AA Mutation |
p.Gln596His(p.Q596H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268296 |
| Start |
31372465:31372465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139559004
|
| CDS Mutation |
c.2248C>T |
| AA Mutation |
p.Arg750Trp(p.R750W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |