Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ESR1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151807937:151807937(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25G>A
AA Mutation p.Ala9Thr(p.A9T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151880750:151880750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778449608
CDS Mutation c.739G>A
AA Mutation p.Glu247Lys(p.E247K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000206249
Start 152098734:152098734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1556A>G
AA Mutation p.Asn519Ser(p.N519S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944410:151944410(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.998C>T
AA Mutation p.Pro333Leu(p.P333L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 152011776:152011776(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1217C>A
AA Mutation p.Pro406His(p.P406H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151808114:151808114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771540162
CDS Mutation c.202G>A
AA Mutation p.Ala68Thr(p.A68T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944220:151944220(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.808C>A
AA Mutation p.Gln270Lys(p.Q270K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944188:151944188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.776G>A
AA Mutation p.Arg259Gln(p.R259Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 152098932:152098932(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141662120
CDS Mutation c.1754C>T
AA Mutation p.Thr585Met(p.T585M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151808066:151808066(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.154T>C
AA Mutation p.Tyr52His(p.Y52H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944204:151944204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.792G>T
AA Mutation p.Met264Ile(p.M264I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944283:151944283(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746807379
CDS Mutation c.871C>A
AA Mutation p.Leu291Ile(p.L291I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944331:151944331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.919G>T
AA Mutation p.Ala307Ser(p.A307S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 152098821:152098821(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775806382
CDS Mutation c.1643G>A
AA Mutation p.Arg548His(p.R548H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151807975:151807975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151944399:151944399(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.987C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151944399:151944399(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139493047
CDS Mutation c.987C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151808152:151808152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.240C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151944435:151944435(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1023G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151944297:151944297(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368367164
CDS Mutation c.885G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 152098810:152098810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1632G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000206249
Start 151808152:151808152(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.240delC
AA Mutation p.Tyr80Ter(p.Y80*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000206249
Start 151880692:151880692(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.681C>A
AA Mutation p.Cys227Ter(p.C227*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence stop_gained
Transcription ID ENST00000206249
Start 151842613:151842613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104893956
CDS Mutation c.469C>T
AA Mutation p.Arg157Ter(p.R157*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> ESR1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151807941:151807941(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.29C>G
AA Mutation p.Ser10Cys(p.S10C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151880739:151880739(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753014570
CDS Mutation c.728G>A
AA Mutation p.Arg243His(p.R243H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151880661:151880661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.650A>G
AA Mutation p.Asn217Ser(p.N217S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151842712:151842712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.568G>A
AA Mutation p.Asp190Asn(p.D190N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151880750:151880750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778449608
CDS Mutation c.739G>A
AA Mutation p.Glu247Lys(p.E247K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000206249
Start 151944470:151944470(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1058A>G
AA Mutation p.Glu353Gly(p.E353G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000206249
Start 151807999:151807999(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.87G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000206249
Start 152098731:152098731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1554-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 9
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000206249
Start 151842596:151842596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.453-1G>T
Mutation Classification Splice_Site
Feature Type Transcript