| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000289153 |
| Start |
138742722:138742722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202220571
|
| CDS Mutation |
c.457C>T |
| AA Mutation |
p.Arg153Cys(p.R153C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000289153 |
| Start |
138759201:138759201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.143G>T |
| AA Mutation |
p.Arg48Leu(p.R48L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000289153 |
| Start |
138759326:138759326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.18A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |