| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371464 |
| Start |
93600480:93600480(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.268G>A |
| AA Mutation |
p.Asp90Asn(p.D90N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371464 |
| Start |
93593975:93593975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747468011
|
| CDS Mutation |
c.416G>A |
| AA Mutation |
p.Arg139His(p.R139H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371464 |
| Start |
93593840:93593840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.551G>T |
| AA Mutation |
p.Arg184Met(p.R184M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |