| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000366963 |
| Start |
160154910:160154910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777622481
|
| CDS Mutation |
c.1498G>C |
| AA Mutation |
p.Ala500Pro(p.A500P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366963 |
| Start |
160156034:160156034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760456949
|
| CDS Mutation |
c.1558G>A |
| AA Mutation |
p.Ala520Thr(p.A520T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366963 |
| Start |
160122173:160122173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760315741
|
| CDS Mutation |
c.238G>A |
| AA Mutation |
p.Ala80Thr(p.A80T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |