| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350697 |
| Start |
10305105:10305105(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.636T>G |
| AA Mutation |
p.Ser212Arg(p.S212R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350697 |
| Start |
10312604:10312604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376073337
|
| CDS Mutation |
c.291C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000350697 |
| Start |
10315319:10315320(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.164+1dupG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |