| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63486704:63486704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2206G>A |
| AA Mutation |
p.Glu736Lys(p.E736K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63481701:63481701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs546455400
|
| CDS Mutation |
c.1081G>A |
| AA Mutation |
p.Ala361Thr(p.A361T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290866 |
| Start |
63480402:63480402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.721G>T |
| AA Mutation |
p.Glu241Ter(p.E241*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |