Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69289978:69289978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1666A>C
AA Mutation p.Lys556Gln(p.K556Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000392676
Start 69294657:69294657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1493G>T
AA Mutation p.Arg498Ile(p.R498I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69289886:69289886(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1758A>G
AA Mutation p.Ile586Met(p.I586M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69291315:69291315(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1507G>T
AA Mutation p.Asp503Tyr(p.D503Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69306815:69306815(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.698G>A
AA Mutation p.Gly233Glu(p.G233E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69260378:69260378(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752014389
CDS Mutation c.3599C>A
AA Mutation p.Thr1200Asn(p.T1200N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000392676
Start 69291216:69291216(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1606G>A
AA Mutation p.Gly536Arg(p.G536R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69255547:69255547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4064G>T
AA Mutation p.Gly1355Val(p.G1355V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69308294:69308294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.544G>A
AA Mutation p.Ala182Thr(p.A182T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69253859:69253859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4255G>A
AA Mutation p.Ala1419Thr(p.A1419T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000392676
Start 69289296:69289296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1783G>A
AA Mutation p.Val595Met(p.V595M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69251831:69251831(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774971336
CDS Mutation c.4451G>A
AA Mutation p.Arg1484Gln(p.R1484Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69286300:69286300(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2053G>A
AA Mutation p.Val685Met(p.V685M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69259719:69259719(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3718G>T
AA Mutation p.Asp1240Tyr(p.D1240Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69297344:69297344(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149261056
CDS Mutation c.1283G>A
AA Mutation p.Arg428Gln(p.R428Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69248294:69248294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4789G>A
AA Mutation p.Glu1597Lys(p.E1597K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69255793:69255793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs534812777
CDS Mutation c.3916C>A
AA Mutation p.Leu1306Ile(p.L1306I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69314356:69314356(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60G>T
AA Mutation p.Lys20Asn(p.K20N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69251855:69251855(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750426352
CDS Mutation c.4427G>A
AA Mutation p.Arg1476Gln(p.R1476Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69259749:69259749(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3688A>C
AA Mutation p.Lys1230Gln(p.K1230Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69313140:69313140(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.259A>C
AA Mutation p.Ile87Leu(p.I87L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000392676
Start 69268056:69268056(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3031G>C
AA Mutation p.Glu1011Gln(p.E1011Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000392676
Start 69283996:69283996(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373892252
CDS Mutation c.2349C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000392676
Start 69313195:69313195(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.204T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000392676
Start 69306771:69306771(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs766419722
CDS Mutation c.742delA
AA Mutation p.Ile248Ter(p.I248*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000392676
Start 69255734:69255734(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3975delA
AA Mutation p.Gly1326GlufsTer4(p.G1326Efs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000392676
Start 69264816:69264816(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3234delT
AA Mutation p.Phe1078LeufsTer6(p.F1078Lfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000392676
Start 69250568:69250568(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4589delT
AA Mutation p.Leu1530TrpfsTer5(p.L1530Wfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000392676
Start 69289921:69289921(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1723G>T
AA Mutation p.Glu575Ter(p.E575*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000392676
Start 69248279:69248279(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4804C>T
AA Mutation p.Gln1602Ter(p.Q1602*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence stop_gained
Transcription ID ENST00000392676
Start 69289293:69289293(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1786C>T
AA Mutation p.Gln596Ter(p.Q596*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence stop_gained
Transcription ID ENST00000392676
Start 69254328:69254328(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4231G>T
AA Mutation p.Glu1411Ter(p.E1411*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000392676
Start 69309304:69309305(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.426dupT
AA Mutation p.Pro143SerfsTer2(p.P143Sfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 34
Mutation Consequence frameshift_variant
Transcription ID ENST00000392676
Start 69309417:69309418(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.313dupA
AA Mutation p.Ile105AsnfsTer3(p.I105Nfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 35
Mutation Consequence inframe_insertion
Transcription ID ENST00000392676
Start 69309416:69309417(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.314_315insAGAAGA
AA Mutation p.Ile105_Thr106insGluAsp(p.I105_T106insED)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ABCA5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69247565:69247565(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374390008
CDS Mutation c.4901G>A
AA Mutation p.Arg1634Gln(p.R1634Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69251855:69251855(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750426352
CDS Mutation c.4427G>A
AA Mutation p.Arg1476Gln(p.R1476Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69289241:69289241(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1838A>C
AA Mutation p.Lys613Thr(p.K613T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69261205:69261205(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3484A>C
AA Mutation p.Ile1162Leu(p.I1162L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69254469:69254469(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4090T>C
AA Mutation p.Ser1364Pro(p.S1364P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69255807:69255807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3902A>T
AA Mutation p.Asp1301Val(p.D1301V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69260390:69260390(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3587A>C
AA Mutation p.Lys1196Thr(p.K1196T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69261659:69261659(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3405A>C
AA Mutation p.Glu1135Asp(p.E1135D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000392676
Start 69285906:69285906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2264A>C
AA Mutation p.Lys755Thr(p.K755T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000392676
Start 69291304:69291304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1518G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000392676
Start 69249971:69249971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4699T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000392676
Start 69251865:69251865(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143193092
CDS Mutation c.4417C>T
AA Mutation p.Arg1473Ter(p.R1473*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000392676
Start 69309391:69309391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.340G>T
AA Mutation p.Glu114Ter(p.E114*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript