| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371655 |
| Start |
51937387:51937387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.254G>C |
| AA Mutation |
p.Arg85Pro(p.R85P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371655 |
| Start |
51937357:51937357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.284C>T |
| AA Mutation |
p.Ala95Val(p.A95V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000371655 |
| Start |
51920115:51920115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.473-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |