| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000251166 |
| Start |
4358368:4358368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs569079730
|
| CDS Mutation |
c.2456G>A |
| AA Mutation |
p.Arg819Gln(p.R819Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251166 |
| Start |
4362008:4362008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746084994
|
| CDS Mutation |
c.1555G>A |
| AA Mutation |
p.Gly519Arg(p.G519R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251166 |
| Start |
4364632:4364632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748161669
|
| CDS Mutation |
c.1102G>A |
| AA Mutation |
p.Asp368Asn(p.D368N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |