| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354914 |
| Start |
27907217:27907217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1027T>A |
| AA Mutation |
p.Leu343Met(p.L343M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354914 |
| Start |
27966537:27966537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.118T>C |
| AA Mutation |
p.Cys40Arg(p.C40R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354914 |
| Start |
27922094:27922094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.393G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |