| Mutation ID |
52 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000317147 |
| Start |
58539842:58539842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4918C>T |
| AA Mutation |
p.Arg1640Ter(p.R1640*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
53 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000317147 |
| Start |
58545472:58545473(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4025_4026insAAAATT |
| AA Mutation |
p.Ala1342_Thr1343insLysPhe(p.A1342_T1343insKF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CNOT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58532316:58532316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5975G>A |
| AA Mutation |
p.Arg1992Gln(p.R1992Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58537024:58537024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5611G>A |
| AA Mutation |
p.Asp1871Asn(p.D1871N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58542298:58542298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4613G>A |
| AA Mutation |
p.Arg1538His(p.R1538H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58576489:58576489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1678A>G |
| AA Mutation |
p.Ile560Val(p.I560V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58539841:58539841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181822641
|
| CDS Mutation |
c.4919G>A |
| AA Mutation |
p.Arg1640Gln(p.R1640Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58543746:58543746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4295C>T |
| AA Mutation |
p.Ser1432Leu(p.S1432L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58549770:58549770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3471G>T |
| AA Mutation |
p.Lys1157Asn(p.K1157N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58582807:58582807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1030G>A |
| AA Mutation |
p.Val344Ile(p.V344I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58588882:58588882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.127G>A |
| AA Mutation |
p.Ala43Thr(p.A43T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58538249:58538249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5153G>A |
| AA Mutation |
p.Arg1718Gln(p.R1718Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58575059:58575059(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1775G>A |
| AA Mutation |
p.Arg592His(p.R592H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58543718:58543718(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4323T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000317147 |
| Start |
58576583:58576584(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1585-2dupA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|