| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233156 |
| Start |
187503723:187503723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.46T>C |
| AA Mutation |
p.Cys16Arg(p.C16R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000233156 |
| Start |
187484152:187484152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756903411
|
| CDS Mutation |
c.600G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233156 |
| Start |
187496893:187496893(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.307delA |
| AA Mutation |
p.Met103CysfsTer11(p.M103Cfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |