| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394863 |
| Start |
31477545:31477545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1355G>A |
| AA Mutation |
p.Cys452Tyr(p.C452Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394863 |
| Start |
31474599:31474599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556A>C |
| AA Mutation |
p.Ser186Arg(p.S186R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394863 |
| Start |
31473459:31473459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.32T>C |
| AA Mutation |
p.Leu11Pro(p.L11P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |