| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409186 |
| Start |
61411505:61411505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375289034
|
| CDS Mutation |
c.2594T>C |
| AA Mutation |
p.Ile865Thr(p.I865T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409186 |
| Start |
61411643:61411643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2456G>A |
| AA Mutation |
p.Arg819His(p.R819H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000409186 |
| Start |
61413454:61413454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.645G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |