| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000420124 |
| Start |
35729997:35729997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4948A>G |
| AA Mutation |
p.Thr1650Ala(p.T1650A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000420124 |
| Start |
35728112:35728112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371795012
|
| CDS Mutation |
c.4512G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000420124 |
| Start |
35732811:35732811(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6263delC |
| AA Mutation |
p.Pro2088GlnfsTer3(p.P2088Qfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |