Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FANCD2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10039733:10039733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.583A>G
AA Mutation p.Lys195Glu(p.K195E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10034776:10034776(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200335298
CDS Mutation c.355C>T
AA Mutation p.Arg119Cys(p.R119C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10046703:10046703(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1258A>G
AA Mutation p.Thr420Ala(p.T420A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10043859:10043859(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1129C>T
AA Mutation p.His377Tyr(p.H377Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10043507:10043507(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1013G>A
AA Mutation p.Ser338Asn(p.S338N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10060396:10060396(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1759G>A
AA Mutation p.Ala587Thr(p.A587T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10064760:10064760(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190777319
CDS Mutation c.2053G>A
AA Mutation p.Gly685Arg(p.G685R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10094295:10094295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs555348798
CDS Mutation c.3895C>T
AA Mutation p.Arg1299Cys(p.R1299C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10043066:10043066(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755797932
CDS Mutation c.905G>A
AA Mutation p.Arg302Gln(p.R302Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10085917:10085917(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3330A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10065421:10065421(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2196G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10039810:10039810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.660G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10043067:10043067(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.906G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10081381:10081381(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3141A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000383807
Start 10073312:10073312(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2669delA
AA Mutation p.Asn890IlefsTer14(p.N890Ifs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000383807
Start 10035231:10035231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368848371
CDS Mutation c.436C>T
AA Mutation p.Gln146Ter(p.Q146*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000383807
Start 10092220:10092220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745930696
CDS Mutation c.3817C>T
AA Mutation p.Arg1273Ter(p.R1273*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000383807
Start 10090346:10090347(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3745dupA
AA Mutation p.Ile1249AsnfsTer2(p.I1249Nfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> FANCD2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10052406:10052406(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1565A>G
AA Mutation p.Asp522Gly(p.D522G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10073340:10073340(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2693C>A
AA Mutation p.Ser898Tyr(p.S898Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000383807
Start 10081163:10081163(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3040C>A
AA Mutation p.His1014Asn(p.H1014N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000383807
Start 10042588:10042588(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773072936
CDS Mutation c.813G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000383807
Start 10034704:10034704(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.283G>T
AA Mutation p.Glu95Ter(p.E95*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000383807
Start 10074582:10074583(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2774dupT
AA Mutation p.Arg926ProfsTer6(p.R926Pfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript