| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613986 |
| Start |
16157333:16157333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778471454
|
| CDS Mutation |
c.598C>T |
| AA Mutation |
p.Arg200Cys(p.R200C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613986 |
| Start |
16157411:16157411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372833514
|
| CDS Mutation |
c.676G>A |
| AA Mutation |
p.Ala226Thr(p.A226T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613986 |
| Start |
16157454:16157454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745790954
|
| CDS Mutation |
c.719C>T |
| AA Mutation |
p.Thr240Met(p.T240M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |