| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172786532:172786532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs565477429
|
| CDS Mutation |
c.1865G>A |
| AA Mutation |
p.Ser622Asn(p.S622N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172805797:172805797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2173G>A |
| AA Mutation |
p.Ala725Thr(p.A725T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172762762:172762762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.961C>A |
| AA Mutation |
p.Leu321Ile(p.L321I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |