| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200666726:200666726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3583A>G |
| AA Mutation |
p.Ile1195Val(p.I1195V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200593175:200593175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.75A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000374700 |
| Start |
200597507:200597507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.309+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |