| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374882 |
| Start |
32842693:32842693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369078226
|
| CDS Mutation |
c.386G>A |
| AA Mutation |
p.Arg129His(p.R129H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374882 |
| Start |
32842982:32842982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.255T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374882 |
| Start |
32843965:32843966(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs775701157
|
| CDS Mutation |
c.31dupC |
| AA Mutation |
p.Arg11ProfsTer58(p.R11Pfs*58) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |