Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA6

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69136230:69136230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.322C>T
AA Mutation p.Pro108Ser(p.P108S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69084351:69084351(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4265G>A
AA Mutation p.Cys1422Tyr(p.C1422Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69106052:69106052(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781051823
CDS Mutation c.2549G>A
AA Mutation p.Arg850His(p.R850H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69088191:69088191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3674G>T
AA Mutation p.Arg1225Ile(p.R1225I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69102928:69102928(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2781A>C
AA Mutation p.Gln927His(p.Q927H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000284425
Start 69117898:69117898(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1495G>T
AA Mutation p.Gly499Cys(p.G499C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69140694:69140694(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10A>C
AA Mutation p.Lys4Gln(p.K4Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69123368:69123368(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1307A>C
AA Mutation p.Asn436Thr(p.N436T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69079226:69079226(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4736A>G
AA Mutation p.Gln1579Arg(p.Q1579R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69096726:69096726(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766759180
CDS Mutation c.3196G>A
AA Mutation p.Val1066Ile(p.V1066I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69113260:69113260(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2003T>C
AA Mutation p.Phe668Ser(p.F668S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69128705:69128705(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1033A>G
AA Mutation p.Thr345Ala(p.T345A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69128759:69128759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.979C>A
AA Mutation p.Leu327Ile(p.L327I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69113685:69113685(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1835C>T
AA Mutation p.Ala612Val(p.A612V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69084318:69084318(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4298T>C
AA Mutation p.Val1433Ala(p.V1433A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69085668:69085668(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3986C>A
AA Mutation p.Ser1329Tyr(p.S1329Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69136192:69136192(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.360T>G
AA Mutation p.Asn120Lys(p.N120K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69079238:69079238(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4724A>G
AA Mutation p.Tyr1575Cys(p.Y1575C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69107771:69107771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2314A>G
AA Mutation p.Thr772Ala(p.T772A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69133785:69133785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs188382333
CDS Mutation c.647A>C
AA Mutation p.Asn216Thr(p.N216T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69129696:69129696(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.847A>G
AA Mutation p.Thr283Ala(p.T283A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69105609:69105609(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756114521
CDS Mutation c.2593G>A
AA Mutation p.Ala865Thr(p.A865T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69085052:69085052(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs527461596
CDS Mutation c.4160C>T
AA Mutation p.Ala1387Val(p.A1387V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000284425
Start 69140650:69140650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000284425
Start 69088186:69088186(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140021843
CDS Mutation c.3679C>T
AA Mutation p.Arg1227Ter(p.R1227*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000284425
Start 69079053:69079053(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4774G>T
AA Mutation p.Glu1592Ter(p.E1592*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000284425
Start 69100823:69100823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143975041
CDS Mutation c.2986C>T
AA Mutation p.Arg996Ter(p.R996*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000284425
Start 69096779:69096779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3143G>A
AA Mutation p.Trp1048Ter(p.W1048*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence frameshift_variant
Transcription ID ENST00000284425
Start 69114912:69114913(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1631dupA
AA Mutation p.Asn544LysfsTer4(p.N544Kfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 30
Mutation Consequence frameshift_variant
Transcription ID ENST00000284425
Start 69081107:69081108(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4654dupG
AA Mutation p.Asp1552GlyfsTer18(p.D1552Gfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000284425
Start 69091239:69091240(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3431_3432insGGGAAAAG
AA Mutation p.Ile1144MetfsTer6(p.I1144Mfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 32
Mutation Consequence splice_donor_variant
Transcription ID ENST00000284425
Start 69085027:69085027(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4184+1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ABCA6

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69106152:69106152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2449C>T
AA Mutation p.His817Tyr(p.H817Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69110839:69110839(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2234T>C
AA Mutation p.Val745Ala(p.V745A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69091235:69091235(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3436T>G
AA Mutation p.Leu1146Val(p.L1146V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69096287:69096287(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763645493
CDS Mutation c.3361C>T
AA Mutation p.Arg1121Cys(p.R1121C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69097957:69097957(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3083C>A
AA Mutation p.Ser1028Tyr(p.S1028Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69112246:69112246(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2069G>T
AA Mutation p.Arg690Ile(p.R690I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69123373:69123373(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1302C>A
AA Mutation p.Phe434Leu(p.F434L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69133754:69133754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.678C>A
AA Mutation p.Phe226Leu(p.F226L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69137323:69137323(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.274A>G
AA Mutation p.Lys92Glu(p.K92E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000284425
Start 69088225:69088225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3640C>A
AA Mutation p.Leu1214Ile(p.L1214I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000284425
Start 69105610:69105610(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373237678
CDS Mutation c.2592C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000284425
Start 69091251:69091251(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3420C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000284425
Start 69123259:69123259(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1416C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000284425
Start 69083226:69083226(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4461G>T
Mutation Classification Silent
Feature Type Transcript