| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200048313:200048313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.605C>T |
| AA Mutation |
p.Ala202Val(p.A202V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200120838:200120838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1261G>A |
| AA Mutation |
p.Gly421Arg(p.G421R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367362 |
| Start |
200043842:200043842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.271G>A |
| AA Mutation |
p.Asp91Asn(p.D91N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |