| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245620 |
| Start |
54220602:54220602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1184G>T |
| AA Mutation |
p.Arg395Met(p.R395M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245620 |
| Start |
54222773:54222773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.44T>A |
| AA Mutation |
p.Leu15Gln(p.L15Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245620 |
| Start |
54217213:54217213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1779T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |