| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70631857:70631858(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.136dupC |
| AA Mutation |
p.Arg46ProfsTer6(p.R46Pfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70637837:70637838(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs752102959
|
| CDS Mutation |
c.588+1dupG |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ENAM
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70644614:70644614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3188C>T |
| AA Mutation |
p.Ala1063Val(p.A1063V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70642544:70642544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143134915
|
| CDS Mutation |
c.1118G>A |
| AA Mutation |
p.Arg373His(p.R373H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70643741:70643741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144070672
|
| CDS Mutation |
c.2315C>A |
| AA Mutation |
p.Ala772Asp(p.A772D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70642880:70642880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1454T>G |
| AA Mutation |
p.Phe485Cys(p.F485C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70643534:70643534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2108C>T |
| AA Mutation |
p.Ser703Phe(p.S703F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70642823:70642823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1397T>C |
| AA Mutation |
p.Val466Ala(p.V466A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70644255:70644255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2829C>G |
| AA Mutation |
p.Asn943Lys(p.N943K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70644394:70644394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2968C>A |
| AA Mutation |
p.Leu990Ile(p.L990I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70642815:70642815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1389G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70643418:70643418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1992C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70635864:70635864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70643563:70643564(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2138dupA |
| AA Mutation |
p.Asp713GlufsTer6(p.D713Efs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396073 |
| Start |
70644784:70644785(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3358_3359insA |
| AA Mutation |
p.Pro1120HisfsTer3(p.P1120Hfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|