| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343455 |
| Start |
95090644:95090644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745601023
|
| CDS Mutation |
c.5623G>A |
| AA Mutation |
p.Asp1875Asn(p.D1875N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000343455 |
| Start |
95091108:95091108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5529A>T |
| AA Mutation |
p.Glu1843Asp(p.E1843D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000343455 |
| Start |
95094157:95094157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5096-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |