| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333845 |
| Start |
32167376:32167376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149576421
|
| CDS Mutation |
c.628G>A |
| AA Mutation |
p.Ala210Thr(p.A210T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333845 |
| Start |
32166992:32166992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.417G>T |
| AA Mutation |
p.Lys139Asn(p.K139N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000333845 |
| Start |
32166542:32166544(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs774671618
|
| CDS Mutation |
c.148_150delAAC |
| AA Mutation |
p.Asn50del(p.N50del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |