| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504548 |
| Start |
143599660:143599660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1757C>T |
| AA Mutation |
p.Pro586Leu(p.P586L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000504548 |
| Start |
143599602:143599602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1699G>A |
| AA Mutation |
p.Ala567Thr(p.A567T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000504548 |
| Start |
143599762:143599762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1859C>A |
| AA Mutation |
p.Ser620Ter(p.S620*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |