| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000428192 |
| Start |
63996647:63996647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147019398
|
| CDS Mutation |
c.337C>T |
| AA Mutation |
p.Arg113Trp(p.R113W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000428192 |
| Start |
63997181:63997181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376676356
|
| CDS Mutation |
c.555C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000428192 |
| Start |
63997396:63997396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.666G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |