| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215567 |
| Start |
14565804:14565804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.860G>A |
| AA Mutation |
p.Arg287His(p.R287H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000215567 |
| Start |
14563660:14563660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752410543
|
| CDS Mutation |
c.121C>T |
| AA Mutation |
p.Pro41Ser(p.P41S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000215567 |
| Start |
14565835:14565835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.891G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |