| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371627 |
| Start |
91849562:91849562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs556843721
|
| CDS Mutation |
c.2662G>A |
| AA Mutation |
p.Glu888Lys(p.E888K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371627 |
| Start |
91798867:91798867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.177C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371627 |
| Start |
91798890:91798890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.199+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |