| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263735 |
| Start |
47385173:47385173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.866C>A |
| AA Mutation |
p.Ser289Tyr(p.S289Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263735 |
| Start |
47386603:47386603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.935T>C |
| AA Mutation |
p.Leu312Pro(p.L312P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263735 |
| Start |
47379916:47379916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.805A>G |
| AA Mutation |
p.Ile269Val(p.I269V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |