| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222248 |
| Start |
17872663:17872663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.344C>T |
| AA Mutation |
p.Thr115Ile(p.T115I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222248 |
| Start |
17872550:17872550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.231G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000222248 |
| Start |
17872678:17872678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.357+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |