Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ABCA8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68903373:68903373(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2405G>A
AA Mutation p.Arg802Gln(p.R802Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68868341:68868341(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4607A>C
AA Mutation p.Asp1536Ala(p.D1536A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68907781:68907781(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2117T>G
AA Mutation p.Leu706Arg(p.L706R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68891508:68891508(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs567388528
CDS Mutation c.3005G>T
AA Mutation p.Ser1002Ile(p.S1002I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68887063:68887063(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201390448
CDS Mutation c.3263G>A
AA Mutation p.Arg1088His(p.R1088H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000269080
Start 68918049:68918049(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1925C>T
AA Mutation p.Ala642Val(p.A642V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68929057:68929057(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1117A>T
AA Mutation p.Met373Leu(p.M373L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68887442:68887442(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571544554
CDS Mutation c.3089C>T
AA Mutation p.Ala1030Val(p.A1030V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68933214:68933214(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.524A>C
AA Mutation p.Glu175Ala(p.E175A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68894198:68894198(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2891G>T
AA Mutation p.Arg964Leu(p.R964L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68932303:68932303(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.782G>A
AA Mutation p.Arg261Gln(p.R261Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68877612:68877612(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776271867
CDS Mutation c.3986C>T
AA Mutation p.Ala1329Val(p.A1329V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68940958:68940958(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.101G>T
AA Mutation p.Trp34Leu(p.W34L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68932314:68932314(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.771G>T
AA Mutation p.Met257Ile(p.M257I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68887407:68887407(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139981915
CDS Mutation c.3124G>A
AA Mutation p.Val1042Ile(p.V1042I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68919369:68919369(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1720A>G
AA Mutation p.Thr574Ala(p.T574A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000269080
Start 68902713:68902713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2644G>T
AA Mutation p.Gly882Trp(p.G882W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68907745:68907745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2153T>G
AA Mutation p.Phe718Cys(p.F718C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68917412:68917412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145869753
CDS Mutation c.1967C>T
AA Mutation p.Ala656Val(p.A656V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68929692:68929692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.808G>T
AA Mutation p.Gly270Cys(p.G270C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68877568:68877568(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112112574
CDS Mutation c.4030G>A
AA Mutation p.Ala1344Thr(p.A1344T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68903344:68903344(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199640898
CDS Mutation c.2434C>T
AA Mutation p.Arg812Cys(p.R812C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68907748:68907748(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2150A>C
AA Mutation p.Lys717Thr(p.K717T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68885273:68885273(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768333090
CDS Mutation c.3352G>A
AA Mutation p.Glu1118Lys(p.E1118K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68877613:68877613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747796104
CDS Mutation c.3985G>A
AA Mutation p.Ala1329Thr(p.A1329T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68921476:68921476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1518T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68894290:68894290(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2799A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68882713:68882713(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3594T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68932467:68932467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.618A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68868346:68868346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4602C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68940840:68940840(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.219C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68894976:68894976(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369130116
CDS Mutation c.2682C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence frameshift_variant
Transcription ID ENST00000269080
Start 68885242:68885242(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3383delT
AA Mutation p.Leu1128Ter(p.L1128*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 34
Mutation Consequence stop_gained
Transcription ID ENST00000269080
Start 68937074:68937074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.343G>T
AA Mutation p.Glu115Ter(p.E115*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000269080
Start 68941952:68941953(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.82_83insAGAAAGAAGATAAAATTAATATGAAGTTCTTAAAAAATGGAGAATGAAAA
AA Mutation p.Arg28LysfsTer16(p.R28Kfs*16)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence frameshift_variant
Transcription ID ENST00000269080
Start 68932461:68932462(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.623dupA
AA Mutation p.Asn208LysfsTer16(p.N208Kfs*16)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 37
Mutation Consequence splice_donor_variant
Transcription ID ENST00000269080
Start 68894171:68894171(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2916+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> ABCA8

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68917413:68917413(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755088665
CDS Mutation c.1966G>A
AA Mutation p.Ala656Thr(p.A656T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68875722:68875722(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146930637
CDS Mutation c.4262G>A
AA Mutation p.Arg1421Gln(p.R1421Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68917412:68917412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145869753
CDS Mutation c.1967C>T
AA Mutation p.Ala656Val(p.A656V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68936965:68936965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.452A>T
AA Mutation p.His151Leu(p.H151L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68875693:68875693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4291G>T
AA Mutation p.Ala1431Ser(p.A1431S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68894189:68894189(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2900G>T
AA Mutation p.Arg967Ile(p.R967I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68907745:68907745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2153T>G
AA Mutation p.Phe718Cys(p.F718C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68929199:68929199(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143207789
CDS Mutation c.975G>T
AA Mutation p.Lys325Asn(p.K325N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68877613:68877613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747796104
CDS Mutation c.3985G>A
AA Mutation p.Ala1329Thr(p.A1329T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68882615:68882615(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3692C>A
AA Mutation p.Ser1231Tyr(p.S1231Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000269080
Start 68885223:68885223(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3402G>T
AA Mutation p.Met1134Ile(p.M1134I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68927941:68927941(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767524085
CDS Mutation c.1248G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68884346:68884346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3480T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68887372:68887372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201100712
CDS Mutation c.3159C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000269080
Start 68929651:68929651(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.849C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000269080
Start 68891549:68891549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759049261
CDS Mutation c.2964G>A
AA Mutation p.Trp988Ter(p.W988*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000269080
Start 68919444:68919444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1645G>T
AA Mutation p.Glu549Ter(p.E549*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript