| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56172623:56172623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764190806
|
| CDS Mutation |
c.1732C>T |
| AA Mutation |
p.Arg578Cys(p.R578C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56182064:56182064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.648C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000267064 |
| Start |
56164308:56164309(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3561_3562dupAC |
| AA Mutation |
p.Leu1188HisfsTer96(p.L1188Hfs*96) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |