| Mutation ID |
92 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000280772 |
| Start |
60068951:60068959(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs750584727
|
| CDS Mutation |
c.11922_11930delTACCACCAC |
| AA Mutation |
p.Thr3976_Thr3978del(p.T3976_T3978del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
93 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000280772 |
| Start |
60055963:60055964(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12759_12760insTGGAGAAGTCCTACTCATCTTTTT |
| AA Mutation |
p.Ser4253_His4254insTrpArgSerProThrHisLeuPhe(p.S4253_H4254insWRSPTHLF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ANK3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60071111:60071111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9770C>A |
| AA Mutation |
p.Pro3257His(p.P3257H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60166859:60166859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202156367
|
| CDS Mutation |
c.2516C>T |
| AA Mutation |
p.Thr839Met(p.T839M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60203006:60203006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1388A>G |
| AA Mutation |
p.Asn463Ser(p.N463S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60069275:60069275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11606C>T |
| AA Mutation |
p.Ala3869Val(p.A3869V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60068681:60068681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12200A>G |
| AA Mutation |
p.Lys4067Arg(p.K4067R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60086683:60086683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3742A>G |
| AA Mutation |
p.Ile1248Val(p.I1248V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60070922:60070922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9959A>G |
| AA Mutation |
p.Asp3320Gly(p.D3320G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60074285:60074285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6596C>A |
| AA Mutation |
p.Thr2199Asn(p.T2199N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60074568:60074568(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6313A>G |
| AA Mutation |
p.Thr2105Ala(p.T2105A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60070670:60070670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10211C>A |
| AA Mutation |
p.Ser3404Tyr(p.S3404Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60389503:60389503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.36G>T |
| AA Mutation |
p.Arg12Ser(p.R12S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60055807:60055807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12916T>G |
| AA Mutation |
p.Ser4306Ala(p.S4306A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60064213:60064213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12395C>A |
| AA Mutation |
p.Ser4132Tyr(p.S4132Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60114297:60114297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2876C>A |
| AA Mutation |
p.Ser959Tyr(p.S959Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60072895:60072895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147625375
|
| CDS Mutation |
c.7986C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60073144:60073144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7737G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60070236:60070236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10645C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60070714:60070714(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10167C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60072328:60072328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8553C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60198477:60198477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1552C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000280772 |
| Start |
60059353:60059353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12673C>T |
| AA Mutation |
p.Arg4225Ter(p.R4225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000280772 |
| Start |
60088161:60088161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142673853
|
| CDS Mutation |
c.3526C>T |
| AA Mutation |
p.Arg1176Ter(p.R1176*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000280772 |
| Start |
60105942:60105943(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3290dupA |
| AA Mutation |
p.Asn1097LysfsTer2(p.N1097Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|