| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332298 |
| Start |
64073980:64073980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747159624
|
| CDS Mutation |
c.527C>T |
| AA Mutation |
p.Thr176Met(p.T176M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332298 |
| Start |
64074237:64074237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752980298
|
| CDS Mutation |
c.369C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000332298 |
| Start |
64073883:64073884(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.623_624insT |
| AA Mutation |
p.Gln208HisfsTer109(p.Q208Hfs*109) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |