| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328354 |
| Start |
28725107:28725108(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.461dupA |
| AA Mutation |
p.Asn154LysfsTer32(p.N154Kfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000328354 |
| Start |
28724975:28724975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHEK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328354 |
| Start |
28725292:28725292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750393263
|
| CDS Mutation |
c.395G>T |
| AA Mutation |
p.Arg132Ile(p.R132I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|