| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000175506 |
| Start |
97864357:97864357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.389A>G |
| AA Mutation |
p.Asn130Ser(p.N130S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000175506 |
| Start |
97852420:97852420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1525A>G |
| AA Mutation |
p.Thr509Ala(p.T509A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000175506 |
| Start |
97853079:97853079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1457A>G |
| AA Mutation |
p.Gln486Arg(p.Q486R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |