Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FANCA

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89746837:89746837(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3402C>A
AA Mutation p.Phe1134Leu(p.F1134L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89784900:89784900(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761957732
CDS Mutation c.1424C>T
AA Mutation p.Thr475Met(p.T475M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89778947:89778947(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778093769
CDS Mutation c.1772G>A
AA Mutation p.Arg591Gln(p.R591Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89738633:89738633(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772505725
CDS Mutation c.4336G>A
AA Mutation p.Ala1446Thr(p.A1446T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89739147:89739147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4153G>A
AA Mutation p.Glu1385Lys(p.E1385K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89792057:89792057(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1095G>T
AA Mutation p.Met365Ile(p.M365I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89815926:89815926(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.140C>T
AA Mutation p.Ala47Val(p.A47V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89748718:89748718(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3289G>A
AA Mutation p.Ala1097Thr(p.A1097T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000389301
Start 89761950:89761950(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755546887
CDS Mutation c.2851C>T
AA Mutation p.Arg951Trp(p.R951W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89739526:89739526(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374649848
CDS Mutation c.3962G>A
AA Mutation p.Arg1321His(p.R1321H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89795927:89795927(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.985A>T
AA Mutation p.Thr329Ser(p.T329S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89740857:89740857(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3775T>G
AA Mutation p.Phe1259Val(p.F1259V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89767219:89767219(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs559524394
CDS Mutation c.2523T>G
AA Mutation p.Ile841Met(p.I841M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89799634:89799634(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752799441
CDS Mutation c.797C>T
AA Mutation p.Thr266Met(p.T266M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89815965:89815965(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.101A>C
AA Mutation p.Lys34Thr(p.K34T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89773301:89773301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1984G>A
AA Mutation p.Ala662Thr(p.A662T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89742811:89742811(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766875357
CDS Mutation c.3754G>A
AA Mutation p.Glu1252Lys(p.E1252K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000389301
Start 89748692:89748692(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749550737
CDS Mutation c.3315C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000389301
Start 89746614:89746614(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768306527
CDS Mutation c.3483G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000389301
Start 89778821:89778821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550064744
CDS Mutation c.1806G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000389301
Start 89758643:89758643(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2915delG
AA Mutation p.Gly972AlafsTer17(p.G972Afs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000389301
Start 89769934:89769944(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2397_2407delAGAGGTGGATG
AA Mutation p.Glu800GlyfsTer16(p.E800Gfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000389301
Start 89739204:89739204(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4096C>T
AA Mutation p.Gln1366Ter(p.Q1366*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence stop_gained
Transcription ID ENST00000389301
Start 89765038:89765038(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2630C>A
AA Mutation p.Ser877Ter(p.S877*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000389301
Start 89764895:89764896(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2772_2773insC
AA Mutation p.Val925ArgfsTer18(p.V925Rfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 26
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000389301
Start 89771815:89771815(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2015-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 27
Mutation Consequence inframe_deletion
Transcription ID ENST00000389301
Start 89810959:89810964(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.391_396delACCAGT
AA Mutation p.Thr131_Ser132del(p.T131_S132del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> FANCA

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89742871:89742871(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3694T>G
AA Mutation p.Phe1232Val(p.F1232V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389301
Start 89815930:89815930(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.136T>C
AA Mutation p.Ser46Pro(p.S46P)
Mutation Classification Missense_Mutation
Feature Type Transcript