| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75389692:75389692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2981C>A |
| AA Mutation |
p.Ala994Asp(p.A994D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75392274:75392274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2819G>T |
| AA Mutation |
p.Ser940Ile(p.S940I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75392311:75392311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2782C>T |
| AA Mutation |
p.Arg928Trp(p.R928W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |