| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000202677 |
| Start |
20512677:20512677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4692T>G |
| AA Mutation |
p.Ile1564Met(p.I1564M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000202677 |
| Start |
20536684:20536684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3386A>C |
| AA Mutation |
p.Glu1129Ala(p.E1129A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000202677 |
| Start |
20639894:20639894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370779249
|
| CDS Mutation |
c.557T>C |
| AA Mutation |
p.Ile186Thr(p.I186T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |