| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344595 |
| Start |
2323272:2323272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748949336
|
| CDS Mutation |
c.731T>C |
| AA Mutation |
p.Ile244Thr(p.I244T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344595 |
| Start |
2323699:2323699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.849A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344595 |
| Start |
2321323:2321324(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.420_421delAA |
| AA Mutation |
p.Arg141SerfsTer57(p.R141Sfs*57) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |