| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11241592:11241592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1502T>A |
| AA Mutation |
p.Ile501Asn(p.I501N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11124516:11124516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6644C>A |
| AA Mutation |
p.Ser2215Tyr(p.S2215Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11256931:11256931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |