| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303645 |
| Start |
32306705:32306705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.172C>T |
| AA Mutation |
p.Leu58Phe(p.L58F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303645 |
| Start |
32311937:32311937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755085204
|
| CDS Mutation |
c.460G>A |
| AA Mutation |
p.Val154Ile(p.V154I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303645 |
| Start |
32311961:32311961(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.488delC |
| AA Mutation |
p.Pro163LeufsTer18(p.P163Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |