| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216862 |
| Start |
54165770:54165770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.704C>A |
| AA Mutation |
p.Ala235Asp(p.A235D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216862 |
| Start |
54157428:54157428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs539392099
|
| CDS Mutation |
c.1394G>A |
| AA Mutation |
p.Arg465His(p.R465H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216862 |
| Start |
54162804:54162804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.903C>A |
| AA Mutation |
p.Phe301Leu(p.F301L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |