| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311403 |
| Start |
7463136:7463136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1846C>T |
| AA Mutation |
p.Arg616Cys(p.R616C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311403 |
| Start |
7463721:7463721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1261C>T |
| AA Mutation |
p.Arg421Trp(p.R421W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311403 |
| Start |
7466435:7466435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.367C>T |
| AA Mutation |
p.Pro123Ser(p.P123S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |