| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19551459:19551459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.534G>T |
| AA Mutation |
p.Leu178Phe(p.L178F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19542478:19542478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.221T>G |
| AA Mutation |
p.Val74Gly(p.V74G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19549668:19549668(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |