| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332351 |
| Start |
32428518:32428518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.748A>C |
| AA Mutation |
p.Met250Leu(p.M250L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332351 |
| Start |
32392015:32392015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1389C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000332351 |
| Start |
32427954:32427954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.872+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |