| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344595 |
| Start |
2321597:2321597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141694122
|
| CDS Mutation |
c.575G>C |
| AA Mutation |
p.Gly192Ala(p.G192A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344595 |
| Start |
2321590:2321590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.568C>A |
| AA Mutation |
p.Leu190Ile(p.L190I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344595 |
| Start |
2323706:2323706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.856G>A |
| AA Mutation |
p.Ala286Thr(p.A286T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |