| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000409155 |
| Start |
113391622:113391622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.166T>C |
| AA Mutation |
p.Tyr56His(p.Y56H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409155 |
| Start |
113389050:113389050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.858G>C |
| AA Mutation |
p.Trp286Cys(p.W286C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409155 |
| Start |
113390650:113390650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778238328
|
| CDS Mutation |
c.424C>T |
| AA Mutation |
p.Arg142Trp(p.R142W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |