| Mutation ID |
31 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40235891:40235892(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1189_1190insACTTTTAGAGTTC |
| AA Mutation |
p.Thr397AsnfsTer3(p.T397Nfs*3) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
stop_gained;protein_altering_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40237761:40237762(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3059_3060insGTAAAC |
| AA Mutation |
p.Ser1020delinsArgTerThr(p.S1020delinsR*T) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RLF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40236467:40236467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1765A>C |
| AA Mutation |
p.Lys589Gln(p.K589Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40239539:40239539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4837G>A |
| AA Mutation |
p.Glu1613Lys(p.E1613K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40236864:40236864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2162G>A |
| AA Mutation |
p.Arg721Gln(p.R721Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40237135:40237135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2433C>A |
| AA Mutation |
p.Phe811Leu(p.F811L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40239910:40239910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5208A>C |
| AA Mutation |
p.Glu1736Asp(p.E1736D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40240211:40240211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201181495
|
| CDS Mutation |
c.5509C>A |
| AA Mutation |
p.His1837Asn(p.H1837N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40239005:40239005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777089270
|
| CDS Mutation |
c.4303G>A |
| AA Mutation |
p.Glu1435Lys(p.E1435K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40239904:40239904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5202G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372771 |
| Start |
40239029:40239029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4327G>T |
| AA Mutation |
p.Glu1443Ter(p.E1443*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372771 |
| Start |
40239707:40239708(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5009dupG |
| AA Mutation |
p.Thr1671AsnfsTer5(p.T1671Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|