| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324460 |
| Start |
125238647:125238647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200526775
|
| CDS Mutation |
c.1177G>A |
| AA Mutation |
p.Ala393Thr(p.A393T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324460 |
| Start |
125239108:125239108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.829G>T |
| AA Mutation |
p.Asp277Tyr(p.D277Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324460 |
| Start |
125239246:125239246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.691G>A |
| AA Mutation |
p.Asp231Asn(p.D231N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |