| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41715060:41715061(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1616dupC |
| AA Mutation |
p.Leu540SerfsTer81(p.L540Sfs*81) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41695333:41695333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2961-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ANK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41684551:41684551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4530G>C |
| AA Mutation |
p.Gln1510His(p.Q1510H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41723220:41723220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376057905
|
| CDS Mutation |
c.814G>A |
| AA Mutation |
p.Glu272Lys(p.E272K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41758038:41758038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.127C>A |
| AA Mutation |
p.Gln43Lys(p.Q43K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41696468:41696468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780841364
|
| CDS Mutation |
c.2855G>A |
| AA Mutation |
p.Arg952His(p.R952H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41684627:41684627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4454G>C |
| AA Mutation |
p.Gly1485Ala(p.G1485A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41661848:41661848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5572C>T |
| AA Mutation |
p.Pro1858Ser(p.P1858S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41701603:41701603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2408G>A |
| AA Mutation |
p.Arg803Gln(p.R803Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41694628:41694628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3291G>T |
| AA Mutation |
p.Glu1097Asp(p.E1097D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41693904:41693904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3526G>A |
| AA Mutation |
p.Val1176Ile(p.V1176I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41672656:41672656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61753678
|
| CDS Mutation |
c.4794C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41688202:41688202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4212G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41715060:41715060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1617T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41758045:41758045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.120C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000347528 |
| Start |
41668362:41668363(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5298dupC |
| AA Mutation |
p.Glu1767ArgfsTer3(p.E1767Rfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|