| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395097 |
| Start |
99828425:99828425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.383T>A |
| AA Mutation |
p.Leu128Gln(p.L128Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000395097 |
| Start |
99833453:99833453(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1253G>C |
| AA Mutation |
p.Arg418Thr(p.R418T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000395097 |
| Start |
99844771:99844771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs529277354
|
| CDS Mutation |
c.1377T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |