| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100849422:100849422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1301A>G |
| AA Mutation |
p.Tyr434Cys(p.Y434C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100850370:100850370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.914C>T |
| AA Mutation |
p.Ser305Phe(p.S305F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372966 |
| Start |
100870816:100870816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.46-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |