| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379887 |
| Start |
72572148:72572148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1198G>A |
| AA Mutation |
p.Ala400Thr(p.A400T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379887 |
| Start |
72583276:72583276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1658A>G |
| AA Mutation |
p.Glu553Gly(p.E553G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379887 |
| Start |
72544832:72544832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.456A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |