| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341049 |
| Start |
116526550:116526550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.56G>A |
| AA Mutation |
p.Arg19Gln(p.R19Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341049 |
| Start |
116559261:116559261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769406995
|
| CDS Mutation |
c.511C>T |
| AA Mutation |
p.Arg171Cys(p.R171C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341049 |
| Start |
116559013:116559013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.263G>C |
| AA Mutation |
p.Ser88Thr(p.S88T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |