| Mutation ID |
92 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113353848:113353849(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5234dupC |
| AA Mutation |
p.Glu1746Ter(p.E1746*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
93 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113356352:113356353(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7739dupA |
| AA Mutation |
p.Arg2581GlufsTer5(p.R2581Efs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ANK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113274540:113274540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1574C>T |
| AA Mutation |
p.Ala525Val(p.A525V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113318556:113318556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200524407
|
| CDS Mutation |
c.2836C>T |
| AA Mutation |
p.Arg946Cys(p.R946C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113353863:113353863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5245C>A |
| AA Mutation |
p.Pro1749Thr(p.P1749T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113357763:113357763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9145C>T |
| AA Mutation |
p.Arg3049Trp(p.R3049W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113365125:113365125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370699621
|
| CDS Mutation |
c.10975C>T |
| AA Mutation |
p.Arg3659Cys(p.R3659C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113367667:113367667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146476345
|
| CDS Mutation |
c.11134G>A |
| AA Mutation |
p.Val3712Ile(p.V3712I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113356221:113356221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7603C>A |
| AA Mutation |
p.Pro2535Thr(p.P2535T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354452:113354452(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762027070
|
| CDS Mutation |
c.5834C>T |
| AA Mutation |
p.Thr1945Met(p.T1945M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354031:113354031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5413C>T |
| AA Mutation |
p.Pro1805Ser(p.P1805S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354376:113354376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140189724
|
| CDS Mutation |
c.5758G>A |
| AA Mutation |
p.Gly1920Arg(p.G1920R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113311369:113311369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2663G>A |
| AA Mutation |
p.Arg888Gln(p.R888Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113341695:113341695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3901C>A |
| AA Mutation |
p.Leu1301Met(p.L1301M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354700:113354700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6082C>T |
| AA Mutation |
p.Arg2028Trp(p.R2028W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113373414:113373414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11824C>T |
| AA Mutation |
p.Arg3942Cys(p.R3942C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113274582:113274582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1616G>A |
| AA Mutation |
p.Arg539Gln(p.R539Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113369653:113369653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199922285
|
| CDS Mutation |
c.11458C>T |
| AA Mutation |
p.Arg3820Trp(p.R3820W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113278506:113278506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1829A>C |
| AA Mutation |
p.Lys610Thr(p.K610T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113353555:113353555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4937C>T |
| AA Mutation |
p.Thr1646Ile(p.T1646I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354589:113354589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5971C>T |
| AA Mutation |
p.Arg1991Trp(p.R1991W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113356834:113356834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8216C>A |
| AA Mutation |
p.Ser2739Tyr(p.S2739Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113357500:113357500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8882C>A |
| AA Mutation |
p.Ser2961Tyr(p.S2961Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113359049:113359049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10431C>A |
| AA Mutation |
p.Phe3477Leu(p.F3477L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113341769:113341769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3975T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113242194:113242194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746556934
|
| CDS Mutation |
c.876C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113293493:113293493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766919590
|
| CDS Mutation |
c.2430C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113292502:113292502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769405364
|
| CDS Mutation |
c.2364C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113358014:113358014(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9396C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354120:113354120(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5502C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113292454:113292454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2316T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113373155:113373155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11676A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113357213:113357213(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8595delA |
| AA Mutation |
p.Ser2866LeufsTer48(p.S2866Lfs*48) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113356954:113356955(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8336_8337delCC |
| AA Mutation |
p.Ala2779AspfsTer4(p.A2779Dfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357077 |
| Start |
113317711:113317711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2698C>T |
| AA Mutation |
p.Arg900Ter(p.R900*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357077 |
| Start |
113357700:113357700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9082G>T |
| AA Mutation |
p.Glu3028Ter(p.E3028*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
35 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000357077 |
| Start |
113354930:113354931(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6315_6316dupCA |
| AA Mutation |
p.Arg2106ThrfsTer51(p.R2106Tfs*51) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|