| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378190 |
| Start |
4712427:4712427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753347923
|
| CDS Mutation |
c.557C>T |
| AA Mutation |
p.Thr186Met(p.T186M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378190 |
| Start |
4769868:4769868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.845A>G |
| AA Mutation |
p.Gln282Arg(p.Q282R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378190 |
| Start |
4712304:4712304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.434C>A |
| AA Mutation |
p.Ala145Asp(p.A145D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |