| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78997169:78997169(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3755delC |
| AA Mutation |
p.Pro1252LeufsTer52(p.P1252Lfs*52) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000537592 |
| Start |
78993205:78993205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1214C>A |
| AA Mutation |
p.Ser405Ter(p.S405*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SALL3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78994048:78994048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2057G>A |
| AA Mutation |
p.Arg686Gln(p.R686Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78994090:78994090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2099C>T |
| AA Mutation |
p.Thr700Met(p.T700M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78997026:78997026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761052930
|
| CDS Mutation |
c.3607C>T |
| AA Mutation |
p.Arg1203Trp(p.R1203W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78993313:78993313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1322C>T |
| AA Mutation |
p.Ser441Leu(p.S441L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78993938:78993938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766775310
|
| CDS Mutation |
c.1947C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78994742:78994742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2751C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000537592 |
| Start |
78993500:78993501(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs751298190
|
| CDS Mutation |
c.1515dupC |
| AA Mutation |
p.Glu506ArgfsTer90(p.E506Rfs*90) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|