| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359299 |
| Start |
168128127:168128127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.62T>G |
| AA Mutation |
p.Met21Arg(p.M21R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359299 |
| Start |
168092713:168092713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.13G>A |
| AA Mutation |
p.Asp5Asn(p.D5N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000359299 |
| Start |
168162527:168162527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.196-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |