Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KCNQ2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63413519:63413519(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1694T>C
AA Mutation p.Met565Thr(p.M565T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63472349:63472349(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.115G>A
AA Mutation p.Ala39Thr(p.A39T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63445322:63445322(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.430C>T
AA Mutation p.Arg144Trp(p.R144W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63407294:63407294(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780679486
CDS Mutation c.1969G>A
AA Mutation p.Ala657Thr(p.A657T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63444727:63444727(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.622A>T
AA Mutation p.Met208Leu(p.M208L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63407144:63407144(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543477138
CDS Mutation c.2119G>A
AA Mutation p.Ala707Thr(p.A707T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63419653:63419653(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1267G>T
AA Mutation p.Gly423Trp(p.G423W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63424189:63424189(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1235A>T
AA Mutation p.Glu412Val(p.E412V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63414092:63414092(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794727134
CDS Mutation c.1627G>A
AA Mutation p.Val543Met(p.V543M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63415020:63415020(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751907059
CDS Mutation c.1408G>A
AA Mutation p.Asp470Asn(p.D470N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63414098:63414098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1621A>G
AA Mutation p.Arg541Gly(p.R541G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63419647:63419647(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1273C>A
AA Mutation p.Leu425Met(p.L425M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63472439:63472439(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25G>A
AA Mutation p.Gly9Ser(p.G9S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63439608:63439608(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.917C>T
AA Mutation p.Ala306Val(p.A306V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63415103:63415103(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1325G>A
AA Mutation p.Arg442His(p.R442H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63407266:63407266(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762130930
CDS Mutation c.1997C>T
AA Mutation p.Pro666Leu(p.P666L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63445325:63445325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768237205
CDS Mutation c.427G>A
AA Mutation p.Val143Met(p.V143M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63444720:63444720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.629G>A
AA Mutation p.Arg210His(p.R210H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63406708:63406708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745508762
CDS Mutation c.2555C>T
AA Mutation p.Pro852Leu(p.P852L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63445289:63445289(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.463C>A
AA Mutation p.Arg155Ser(p.R155S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63439657:63439657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.868G>A
AA Mutation p.Gly290Ser(p.G290S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63444729:63444729(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs118192200
CDS Mutation c.620G>A
AA Mutation p.Arg207Gln(p.R207Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63407042:63407042(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2221C>T
AA Mutation p.Arg741Cys(p.R741C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63445326:63445326(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780770793
CDS Mutation c.426C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63444818:63444818(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.531C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63414922:63414922(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780293757
CDS Mutation c.1506G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63408524:63408524(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201868078
CDS Mutation c.1776C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63415086:63415086(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1342C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63407211:63407211(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764444302
CDS Mutation c.2052C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63406707:63406707(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs3810472
CDS Mutation c.2556G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63414180:63414180(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376713245
CDS Mutation c.1539C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63415021:63415021(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs1801385
CDS Mutation c.1407C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63406911:63406911(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752646626
CDS Mutation c.2352C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63444779:63444779(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs116087798
CDS Mutation c.570C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63445353:63445353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.399T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence stop_gained
Transcription ID ENST00000359125
Start 63433834:63433834(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1093C>T
AA Mutation p.Arg365Ter(p.R365*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000359125
Start 63428436:63428436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1149-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> KCNQ2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63439644:63439644(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.881C>T
AA Mutation p.Ala294Val(p.A294V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000359125
Start 63408436:63408436(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772405187
CDS Mutation c.1864C>T
AA Mutation p.Arg622Trp(p.R622W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63407223:63407223(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368050380
CDS Mutation c.2040C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000359125
Start 63428423:63428423(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147453497
CDS Mutation c.1161G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence splice_donor_variant
Transcription ID ENST00000359125
Start 63444657:63444657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.690+2T>C
Mutation Classification Splice_Site
Feature Type Transcript