| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121489022:121489023(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3908_3909insACTCCTTC |
| AA Mutation |
p.Lys1304LeufsTer11(p.K1304Lfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121510219:121510220(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1635_1636insTCTAGTAGCC |
| AA Mutation |
p.Thr546SerfsTer41(p.T546Sfs*41) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POLQ
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121488055:121488055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4876A>C |
| AA Mutation |
p.Asn1626His(p.N1626H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121489740:121489740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3191G>A |
| AA Mutation |
p.Arg1064Lys(p.R1064K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121487564:121487564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5367T>A |
| AA Mutation |
p.Ser1789Arg(p.S1789R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121511892:121511892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758335813
|
| CDS Mutation |
c.1606C>G |
| AA Mutation |
p.Leu536Val(p.L536V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121483439:121483439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5917A>C |
| AA Mutation |
p.Ile1973Leu(p.I1973L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121489836:121489836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3095C>T |
| AA Mutation |
p.Ser1032Leu(p.S1032L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121487922:121487922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5009G>A |
| AA Mutation |
p.Arg1670Lys(p.R1670K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121488398:121488398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4533A>C |
| AA Mutation |
p.Glu1511Asp(p.E1511D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121489211:121489211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3720A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121489097:121489097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3834A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121532993:121532993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.957G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264233 |
| Start |
121488929:121488929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4002G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264233 |
| Start |
121509587:121509587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1933G>T |
| AA Mutation |
p.Glu645Ter(p.E645*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264233 |
| Start |
121522102:121522102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776837608
|
| CDS Mutation |
c.1156G>T |
| AA Mutation |
p.Glu386Ter(p.E386*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|