| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000281938 |
| Start |
119179459:119179459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371236491
|
| CDS Mutation |
c.147C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281938 |
| Start |
119179572:119179572(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.266delC |
| AA Mutation |
p.Pro89HisfsTer12(p.P89Hfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281938 |
| Start |
119179571:119179572(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs773017653
|
| CDS Mutation |
c.266dupC |
| AA Mutation |
p.Pro90ThrfsTer37(p.P90Tfs*37) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |