| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361170 |
| Start |
156530196:156530196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781305314
|
| CDS Mutation |
c.4313G>A |
| AA Mutation |
p.Arg1438Gln(p.R1438Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361170 |
| Start |
156534511:156534511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3730C>T |
| AA Mutation |
p.Leu1244Phe(p.L1244F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361170 |
| Start |
156531229:156531229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201700249
|
| CDS Mutation |
c.4122C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |