Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CNTN1

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000347616
Start	40943997:40943997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1510C>T
AA Mutation	p.Pro504Ser(p.P504S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000347616
Start	41014297:41014297(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201782849
CDS Mutation	c.2183C>T
AA Mutation	p.Ala728Val(p.A728V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	41016781:41016781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs566695601
CDS Mutation	c.2284C>T
AA Mutation	p.Pro762Ser(p.P762S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40980918:40980918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767086250
CDS Mutation	c.1814G>A
AA Mutation	p.Gly605Asp(p.G605D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40944001:40944001(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs556601462
CDS Mutation	c.1514C>T
AA Mutation	p.Thr505Met(p.T505M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40929811:40929811(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201037986
CDS Mutation	c.512G>A
AA Mutation	p.Arg171His(p.R171H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	41069976:41069976(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2998C>A
AA Mutation	p.Pro1000Thr(p.P1000T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40937670:40937670(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1211C>T
AA Mutation	p.Ala404Val(p.A404V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40944052:40944052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1565C>T
AA Mutation	p.Ala522Val(p.A522V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40929981:40929981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.682C>A
AA Mutation	p.Pro228Thr(p.P228T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000347616
Start	40922426:40922426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.398G>T
AA Mutation	p.Gly133Val(p.G133V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40929810:40929810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770683180
CDS Mutation	c.511C>T
AA Mutation	p.Arg171Cys(p.R171C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40929912:40929912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.613G>A
AA Mutation	p.Asp205Asn(p.D205N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40944144:40944144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1657A>G
AA Mutation	p.Asn553Asp(p.N553D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40959142:40959142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142561108
CDS Mutation	c.1712G>A
AA Mutation	p.Arg571Gln(p.R571Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	41025159:41025159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2533T>C
AA Mutation	p.Trp845Arg(p.W845R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	41025160:41025160(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2534G>T
AA Mutation	p.Trp845Leu(p.W845L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40908452:40908452(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.20T>C
AA Mutation	p.Val7Ala(p.V7A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40944004:40944004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773587445
CDS Mutation	c.1517G>A
AA Mutation	p.Arg506Gln(p.R506Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40933524:40933524(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.767G>T
AA Mutation	p.Gly256Val(p.G256V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40939473:40939473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1367T>C
AA Mutation	p.Val456Ala(p.V456A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	41029144:41029144(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2905G>T
AA Mutation	p.Asp969Tyr(p.D969Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40918689:40918689(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.145A>G
AA Mutation	p.Asn49Asp(p.N49D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	41025307:41025307(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2681A>G
AA Mutation	p.Asp894Gly(p.D894G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40918763:40918763(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.219G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40959179:40959179(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768838928
CDS Mutation	c.1749C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40939432:40939432(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1326G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40980934:40980934(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1830G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40944002:40944002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148905523
CDS Mutation	c.1515G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40981048:40981048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1944C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40993196:40993196(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776024500
CDS Mutation	c.2040C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40959149:40959149(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777069796
CDS Mutation	c.1719G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	41025221:41025221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145714777
CDS Mutation	c.2595G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40944167:40944167(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1680T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40933856:40933856(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.963T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000347616
Start	40959156:40959156(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1728delA
AA Mutation	p.Lys576AsnfsTer24(p.K576Nfs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	stop_gained
Transcription ID	ENST00000347616
Start	40944003:40944003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1516C>T
AA Mutation	p.Arg506Ter(p.R506*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	stop_gained
Transcription ID	ENST00000347616
Start	41016882:41016882(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2385C>A
AA Mutation	p.Tyr795Ter(p.Y795*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	stop_gained
Transcription ID	ENST00000347616
Start	40933713:40933713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.820C>T
AA Mutation	p.Arg274Ter(p.R274*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	stop_gained
Transcription ID	ENST00000347616
Start	40933718:40933718(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.825G>A
AA Mutation	p.Trp275Ter(p.W275*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000347616
Start	41016918:41016918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2419+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> CNTN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40937618:40937618(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767168253
CDS Mutation	c.1159G>A
AA Mutation	p.Gly387Arg(p.G387R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40939412:40939412(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1306T>A
AA Mutation	p.Cys436Ser(p.C436S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40944165:40944165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1678T>G
AA Mutation	p.Phe560Val(p.F560V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000347616
Start	40929859:40929859(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs4408370
CDS Mutation	c.560G>A
AA Mutation	p.Arg187Gln(p.R187Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40933465:40933465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.708A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000347616
Start	40981024:40981024(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1920G>A
Mutation Classification	Silent
Feature Type	Transcript