| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397641 |
| Start |
30946366:30946366(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.401T>G |
| AA Mutation |
p.Phe134Cys(p.F134C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397641 |
| Start |
30937818:30937818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1366A>G |
| AA Mutation |
p.Ile456Val(p.I456V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397641 |
| Start |
30932371:30932371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2829A>G |
| AA Mutation |
p.Ile943Met(p.I943M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |