| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21300552:21300552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.706C>T |
| AA Mutation |
p.Pro236Ser(p.P236S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21306884:21306884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.440C>T |
| AA Mutation |
p.Ser147Leu(p.S147L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000307378 |
| Start |
21295762:21295762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1106G>A |
| AA Mutation |
p.Gly369Glu(p.G369E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |