| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285311 |
| Start |
106925861:106925861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.311G>T |
| AA Mutation |
p.Arg104Leu(p.R104L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285311 |
| Start |
106924650:106924650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.424C>G |
| AA Mutation |
p.Leu142Val(p.L142V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285311 |
| Start |
106924046:106924046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761402051
|
| CDS Mutation |
c.688C>T |
| AA Mutation |
p.Arg230Cys(p.R230C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |