| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400324 |
| Start |
60112090:60112090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.310G>T |
| AA Mutation |
p.Ala104Ser(p.A104S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59983860:59983860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1389G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000400324 |
| Start |
59774187:59774187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3319+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |