| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260810 |
| Start |
133601267:133601267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4552C>T |
| AA Mutation |
p.Arg1518Ter(p.R1518*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260810 |
| Start |
133611043:133611044(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4133_4134insCACATTCTCTTTT |
| AA Mutation |
p.Arg1378SerfsTer18(p.R1378Sfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TOPBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000260810 |
| Start |
133652465:133652465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770675095
|
| CDS Mutation |
c.1087C>T |
| AA Mutation |
p.Arg363Trp(p.R363W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260810 |
| Start |
133623353:133623353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3033T>A |
| AA Mutation |
p.Asn1011Lys(p.N1011K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260810 |
| Start |
133649871:133649871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369433427
|
| CDS Mutation |
c.1162C>T |
| AA Mutation |
p.Arg388Cys(p.R388C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260810 |
| Start |
133644155:133644155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746013675
|
| CDS Mutation |
c.1713C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260810 |
| Start |
133655429:133655432(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.600_603delTCTT |
| AA Mutation |
p.Phe200LeufsTer4(p.F200Lfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260810 |
| Start |
133616874:133616874(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3811C>T |
| AA Mutation |
p.Gln1271Ter(p.Q1271*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|