| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369798 |
| Start |
80011767:80011767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368343290
|
| CDS Mutation |
c.767G>A |
| AA Mutation |
p.Arg256Gln(p.R256Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369798 |
| Start |
80040259:80040259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2371G>C |
| AA Mutation |
p.Val791Leu(p.V791L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000369798 |
| Start |
80011550:80011550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.728+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |