| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311322 |
| Start |
19948203:19948203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557015233
|
| CDS Mutation |
c.112G>A |
| AA Mutation |
p.Glu38Lys(p.E38K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000311322 |
| Start |
19948342:19948342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.249+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000311322 |
| Start |
19959382:19959382(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1139+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |