| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257749 |
| Start |
89950867:89950867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1239delG |
| AA Mutation |
p.Pro414LeufsTer18(p.P414Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257749 |
| Start |
89951286:89951287(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.819dupG |
| AA Mutation |
p.Gln274AlafsTer3(p.Q274Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BACH2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257749 |
| Start |
90008753:90008753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.92G>A |
| AA Mutation |
p.Arg31Gln(p.R31Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257749 |
| Start |
90008730:90008730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.115G>A |
| AA Mutation |
p.Val39Met(p.V39M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257749 |
| Start |
89950562:89950562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1544C>T |
| AA Mutation |
p.Thr515Ile(p.T515I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257749 |
| Start |
89950723:89950723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs569909772
|
| CDS Mutation |
c.1383G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257749 |
| Start |
89950321:89950321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558363430
|
| CDS Mutation |
c.1785G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|