| Mutation ID |
44 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7542017:7542018(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.107dupG |
| AA Mutation |
p.Thr37HisfsTer56(p.T37Hfs*56) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7574715:7574716(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2359dupT |
| AA Mutation |
p.Tyr787LeufsTer2(p.Y787Lfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DSP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7580209:7580209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765247380
|
| CDS Mutation |
c.4019G>A |
| AA Mutation |
p.Arg1340His(p.R1340H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7585282:7585282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs397516961
|
| CDS Mutation |
c.8020G>A |
| AA Mutation |
p.Ala2674Thr(p.A2674T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7585538:7585538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8276G>A |
| AA Mutation |
p.Arg2759His(p.R2759H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7581408:7581408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142885240
|
| CDS Mutation |
c.5218G>A |
| AA Mutation |
p.Glu1740Lys(p.E1740K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7576390:7576390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2727G>T |
| AA Mutation |
p.Gln909His(p.Q909H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7580673:7580673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4483A>G |
| AA Mutation |
p.Asn1495Asp(p.N1495D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379802 |
| Start |
7583301:7583301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6039G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|