| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359651 |
| Start |
202015216:202015216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1009T>A |
| AA Mutation |
p.Tyr337Asn(p.Y337N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359651 |
| Start |
202011193:202011206(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.58_71delAGCTCGGAGGACTC |
| AA Mutation |
p.Ser20HisfsTer15(p.S20Hfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359651 |
| Start |
202013256:202013257(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.764_765delAA |
| AA Mutation |
p.Lys255ArgfsTer45(p.K255Rfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |