| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9256208:9256209(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2949dupA |
| AA Mutation |
p.Ser984IlefsTer7(p.S984Ifs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9211583:9211583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.452-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ANKRD12
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9211674:9211674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.542G>T |
| AA Mutation |
p.Arg181Ile(p.R181I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9257429:9257429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4162C>T |
| AA Mutation |
p.Leu1388Phe(p.L1388F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9280969:9280969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6032A>C |
| AA Mutation |
p.Glu2011Ala(p.E2011A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9254809:9254809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1542G>T |
| AA Mutation |
p.Lys514Asn(p.K514N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9255361:9255361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2094G>T |
| AA Mutation |
p.Glu698Asp(p.E698D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9195587:9195587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.124A>C |
| AA Mutation |
p.Lys42Gln(p.K42Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9254424:9254424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747330128
|
| CDS Mutation |
c.1157G>A |
| AA Mutation |
p.Arg386Gln(p.R386Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9255572:9255572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2305G>A |
| AA Mutation |
p.Asp769Asn(p.D769N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9258723:9258723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5456C>T |
| AA Mutation |
p.Ser1819Phe(p.S1819F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9258890:9258890(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5623C>A |
| AA Mutation |
p.Leu1875Ile(p.L1875I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9258587:9258587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5320A>G |
| AA Mutation |
p.Thr1774Ala(p.T1774A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9254263:9254263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773821570
|
| CDS Mutation |
c.996C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9275532:9275532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5772C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9258797:9258797(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5536delA |
| AA Mutation |
p.Ile1846Ter(p.I1846*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9255263:9255263(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2001delA |
| AA Mutation |
p.Glu668LysfsTer44(p.E668Kfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262126 |
| Start |
9257189:9257189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3922C>T |
| AA Mutation |
p.Arg1308Ter(p.R1308*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262126 |
| Start |
9256321:9256322(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3060dupA |
| AA Mutation |
p.Asp1021ArgfsTer2(p.D1021Rfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|