| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293780 |
| Start |
4899031:4899031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1296G>T |
| AA Mutation |
p.Glu432Asp(p.E432D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293780 |
| Start |
4900800:4900800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.910C>A |
| AA Mutation |
p.Leu304Met(p.L304M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000293780 |
| Start |
4902088:4902088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.345-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |