| Mutation ID |
53 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128110446:128110447(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2347_2348insAC |
| AA Mutation |
p.Leu783TyrfsTer49(p.L783Yfs*49) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
54 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128110447:128110448(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2346_2347insCA |
| AA Mutation |
p.Leu783HisfsTer49(p.L783Hfs*49) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MKI67
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128106194:128106194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5646G>T |
| AA Mutation |
p.Lys1882Asn(p.K1882N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128107183:128107183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371337191
|
| CDS Mutation |
c.4657G>A |
| AA Mutation |
p.Ala1553Thr(p.A1553T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128111774:128111774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766987700
|
| CDS Mutation |
c.2131G>A |
| AA Mutation |
p.Ala711Thr(p.A711T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128115530:128115530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.878G>T |
| AA Mutation |
p.Arg293Ile(p.R293I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128107703:128107703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4137A>T |
| AA Mutation |
p.Glu1379Asp(p.E1379D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128106972:128106972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4868A>G |
| AA Mutation |
p.Asp1623Gly(p.D1623G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128115209:128115209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1199G>A |
| AA Mutation |
p.Arg400Gln(p.R400Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128104822:128104822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7018A>T |
| AA Mutation |
p.Ile2340Leu(p.I2340L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128105113:128105113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6727C>A |
| AA Mutation |
p.Leu2243Ile(p.L2243I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128107713:128107713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4127C>A |
| AA Mutation |
p.Ser1376Tyr(p.S1376Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128108360:128108360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3480C>A |
| AA Mutation |
p.Phe1160Leu(p.F1160L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128103379:128103379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8461A>C |
| AA Mutation |
p.Thr2821Pro(p.T2821P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128107720:128107720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752669582
|
| CDS Mutation |
c.4120G>A |
| AA Mutation |
p.Glu1374Lys(p.E1374K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128108863:128108863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2977A>C |
| AA Mutation |
p.Lys993Gln(p.K993Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128107988:128107988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141076241
|
| CDS Mutation |
c.3852G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128102645:128102645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9195G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128107876:128107876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3964C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128105207:128105207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377502553
|
| CDS Mutation |
c.6633G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368654 |
| Start |
128111971:128111971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2044C>T |
| AA Mutation |
p.Gln682Ter(p.Q682*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368654 |
| Start |
128106270:128106271(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5569dupA |
| AA Mutation |
p.Ile1857AsnfsTer52(p.I1857Nfs*52) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|