| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186083163:186083163(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1481delA |
| AA Mutation |
p.Asn494MetfsTer15(p.N494Mfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296795 |
| Start |
186082866:186082866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780744847
|
| CDS Mutation |
c.1180C>T |
| AA Mutation |
p.Arg394Ter(p.R394*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TLR3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186083572:186083572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1886T>C |
| AA Mutation |
p.Val629Ala(p.V629A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186079002:186079002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.604T>G |
| AA Mutation |
p.Leu202Val(p.L202V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186083067:186083067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1381A>C |
| AA Mutation |
p.Ile461Leu(p.I461L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186084121:186084121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2435A>C |
| AA Mutation |
p.Lys812Thr(p.K812T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186076988:186076988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763487767
|
| CDS Mutation |
c.369G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186083570:186083570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1884G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296795 |
| Start |
186083022:186083022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1336G>T |
| AA Mutation |
p.Glu446Ter(p.E446*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296795 |
| Start |
186083922:186083922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2236G>T |
| AA Mutation |
p.Glu746Ter(p.E746*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296795 |
| Start |
186084757:186084757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745646456
|
| CDS Mutation |
c.2599C>T |
| AA Mutation |
p.Arg867Ter(p.R867*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296795 |
| Start |
186083130:186083131(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1444_1445insAAAGGAG |
| AA Mutation |
p.Leu482GlnfsTer14(p.L482Qfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000296795 |
| Start |
186083131:186083132(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1447_1448insCTAGTC |
| AA Mutation |
p.Leu482_Gln483insProSer(p.L482_Q483insPS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000296795 |
| Start |
186082892:186082893(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1207_1208insTTGTTT |
| AA Mutation |
p.Phe401_Val402dup(p.F401_V402dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|