| Mutation ID |
52 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62880722:62880722(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5234delG |
| AA Mutation |
p.Gly1745AlafsTer119(p.G1745Afs*119) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
53 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62882104:62882104(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3852delC |
| AA Mutation |
p.Ser1285AlafsTer76(p.S1285Afs*76) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DIDO1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62896574:62896574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2011C>T |
| AA Mutation |
p.Arg671Trp(p.R671W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62881899:62881899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4057G>A |
| AA Mutation |
p.Gly1353Arg(p.G1353R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62906072:62906072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1403A>T |
| AA Mutation |
p.Lys468Met(p.K468M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62882042:62882042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762356761
|
| CDS Mutation |
c.3914C>T |
| AA Mutation |
p.Ser1305Leu(p.S1305L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266070 |
| Start |
62910949:62910949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759656054
|
| CDS Mutation |
c.664G>A |
| AA Mutation |
p.Asp222Asn(p.D222N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000266070 |
| Start |
62892910:62892910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3154C>T |
| AA Mutation |
p.Arg1052Ter(p.R1052*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000266070 |
| Start |
62880516:62880516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5440C>T |
| AA Mutation |
p.Gln1814Ter(p.Q1814*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|