| Mutation ID |
54 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154930489:154930490(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3300dupA |
| AA Mutation |
p.Glu1101ArgfsTer17(p.E1101Rfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154861867:154861867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6575-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> F8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154930152:154930152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3638T>G |
| AA Mutation |
p.Ile1213Ser(p.I1213S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154929197:154929197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4593T>A |
| AA Mutation |
p.Asn1531Lys(p.N1531K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154992981:154992981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556G>A |
| AA Mutation |
p.Asp186Asn(p.D186N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154929415:154929415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4375A>C |
| AA Mutation |
p.Lys1459Gln(p.K1459Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154930839:154930839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781861130
|
| CDS Mutation |
c.2951C>T |
| AA Mutation |
p.Ser984Leu(p.S984L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154863112:154863112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137852466
|
| CDS Mutation |
c.6545G>A |
| AA Mutation |
p.Arg2182His(p.R2182H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154930081:154930081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3709A>G |
| AA Mutation |
p.Thr1237Ala(p.T1237A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154860526:154860526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6806C>A |
| AA Mutation |
p.Ser2269Tyr(p.S2269Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154931117:154931117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2673G>T |
| AA Mutation |
p.Lys891Asn(p.K891N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154930383:154930383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3407C>A |
| AA Mutation |
p.Ser1136Tyr(p.S1136Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154929074:154929074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4716C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360256 |
| Start |
154930799:154930799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2991T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360256 |
| Start |
154931073:154931073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2717C>A |
| AA Mutation |
p.Ser906Ter(p.S906*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|