| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100863520:100863520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.217C>T |
| AA Mutation |
p.Arg73Cys(p.R73C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100849336:100849336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1387G>T |
| AA Mutation |
p.Gly463Cys(p.G463C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100862570:100862570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776715462
|
| CDS Mutation |
c.493G>A |
| AA Mutation |
p.Val165Met(p.V165M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |