| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329008 |
| Start |
72023764:72023764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.268G>A |
| AA Mutation |
p.Gly90Ser(p.G90S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000329008 |
| Start |
72106264:72106264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753498969
|
| CDS Mutation |
c.149G>A |
| AA Mutation |
p.Arg50Gln(p.R50Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000329008 |
| Start |
71787850:71787850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773565061
|
| CDS Mutation |
c.585C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |