Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA9

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000340001
Start 68989813:68989813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3955G>T
AA Mutation p.Gly1319Cys(p.G1319C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69027646:69027646(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1785G>T
AA Mutation p.Glu595Asp(p.E595D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69032138:69032138(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1415C>A
AA Mutation p.Ser472Tyr(p.S472Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69017760:69017760(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2797C>G
AA Mutation p.Leu933Val(p.L933V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68989903:68989903(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370277695
CDS Mutation c.3865C>T
AA Mutation p.Arg1289Trp(p.R1289W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69043675:69043675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.614T>C
AA Mutation p.Val205Ala(p.V205A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68976176:68976176(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4735G>A
AA Mutation p.Asp1579Asn(p.D1579N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68984073:68984073(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4482G>T
AA Mutation p.Met1494Ile(p.M1494I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68992204:68992204(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3687G>T
AA Mutation p.Lys1229Asn(p.K1229N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69027782:69027782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1649G>T
AA Mutation p.Arg550Ile(p.R550I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69033806:69033806(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1196T>C
AA Mutation p.Ile399Thr(p.I399T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000340001
Start 69020584:69020584(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2404A>C
AA Mutation p.Ile802Leu(p.I802L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69024303:69024303(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2192A>G
AA Mutation p.Lys731Arg(p.K731R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68986183:68986183(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142295838
CDS Mutation c.4189G>A
AA Mutation p.Ala1397Thr(p.A1397T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69012077:69012077(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3046A>G
AA Mutation p.Met1016Val(p.M1016V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69007789:69007789(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3405T>G
AA Mutation p.Asn1135Lys(p.N1135K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69032247:69032247(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1306T>C
AA Mutation p.Phe436Leu(p.F436L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000340001
Start 69049488:69049488(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.99A>C
AA Mutation p.Glu33Asp(p.E33D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69018565:69018565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2615G>A
AA Mutation p.Gly872Asp(p.G872D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68993048:68993048(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772571287
CDS Mutation c.3592G>A
AA Mutation p.Glu1198Lys(p.E1198K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69027018:69027018(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2008C>A
AA Mutation p.Leu670Ile(p.L670I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69024253:69024253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374064269
CDS Mutation c.2242G>A
AA Mutation p.Val748Ile(p.V748I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 68982566:68982566(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4716G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 68993076:68993076(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3564T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 68986307:68986307(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767723466
CDS Mutation c.4065C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 69020474:69020474(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373353580
CDS Mutation c.2514C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 69045266:69045266(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.375A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 69020498:69020498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750381974
CDS Mutation c.2490C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 69020468:69020468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149228541
CDS Mutation c.2520G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000340001
Start 68984920:68984920(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750094359
CDS Mutation c.4344G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence frameshift_variant
Transcription ID ENST00000340001
Start 68995952:68995952(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3498delT
AA Mutation p.Phe1166LeufsTer5(p.F1166Lfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 32
Mutation Consequence frameshift_variant
Transcription ID ENST00000340001
Start 69008144:69008144(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3239delT
AA Mutation p.Leu1080Ter(p.L1080*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000340001
Start 68990930:68990930(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3744delT
AA Mutation p.Pro1249GlnfsTer18(p.P1249Qfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000340001
Start 69032118:69032118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1435G>T
AA Mutation p.Glu479Ter(p.E479*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained
Transcription ID ENST00000340001
Start 69020410:69020410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2578G>T
AA Mutation p.Glu860Ter(p.E860*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000340001
Start 69043505:69043505(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.784C>T
AA Mutation p.Arg262Ter(p.R262*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence splice_donor_variant
Transcription ID ENST00000340001
Start 69028534:69028534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1615+1G>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ABCA9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68983780:68983780(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4569G>T
AA Mutation p.Lys1523Asn(p.K1523N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 68984165:68984165(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374873743
CDS Mutation c.4390C>T
AA Mutation p.Arg1464Trp(p.R1464W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69017753:69017753(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766035326
CDS Mutation c.2804G>A
AA Mutation p.Arg935Gln(p.R935Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69051105:69051105(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754353946
CDS Mutation c.22G>A
AA Mutation p.Val8Met(p.V8M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69020473:69020473(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61740908
CDS Mutation c.2515G>A
AA Mutation p.Val839Met(p.V839M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69016303:69016303(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2989A>C
AA Mutation p.Ile997Leu(p.I997L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69018528:69018528(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2652C>A
AA Mutation p.Phe884Leu(p.F884L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69049424:69049424(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.163C>A
AA Mutation p.His55Asn(p.H55N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69035752:69035752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.850T>G
AA Mutation p.Leu284Val(p.L284V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000340001
Start 69049375:69049375(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.212T>C
AA Mutation p.Phe71Ser(p.F71S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000340001
Start 69043596:69043596(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.693delT
AA Mutation p.Ile232PhefsTer24(p.I232Ffs*24)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000340001
Start 68982588:68982588(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4694C>A
AA Mutation p.Ser1565Ter(p.S1565*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000340001
Start 68995899:68995900(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3550dupT
AA Mutation p.Ser1184PhefsTer2(p.S1184Ffs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript