Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ITIH5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7573165:7573165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2009G>A
AA Mutation	p.Arg670Lys(p.R670K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7576599:7576599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1832G>A
AA Mutation	p.Ser611Asn(p.S611N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7579858:7579858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370636564
CDS Mutation	c.1315G>A
AA Mutation	p.Gly439Ser(p.G439S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7566344:7566344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771640525
CDS Mutation	c.2213G>A
AA Mutation	p.Arg738His(p.R738H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7573165:7573165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2009G>T
AA Mutation	p.Arg670Ile(p.R670I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7577002:7577002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1429G>A
AA Mutation	p.Glu477Lys(p.E477K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7576813:7576813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146077128
CDS Mutation	c.1618A>G
AA Mutation	p.Ile540Val(p.I540V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7579794:7579794(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs34310163
CDS Mutation	c.1379G>A
AA Mutation	p.Arg460His(p.R460H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7576594:7576594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143458484
CDS Mutation	c.1837C>T
AA Mutation	p.Arg613Cys(p.R613C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7637288:7637288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.592G>A
AA Mutation	p.Ala198Thr(p.A198T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7563178:7563178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768283912
CDS Mutation	c.2734G>A
AA Mutation	p.Ala912Thr(p.A912T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7576554:7576554(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369197326
CDS Mutation	c.1877C>T
AA Mutation	p.Pro626Leu(p.P626L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7579959:7579959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749743981
CDS Mutation	c.1214C>T
AA Mutation	p.Thr405Met(p.T405M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7615987:7615987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368025989
CDS Mutation	c.934C>T
AA Mutation	p.Arg312Trp(p.R312W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7563222:7563222(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2690A>G
AA Mutation	p.Asn897Ser(p.N897S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7576781:7576781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1650G>T
AA Mutation	p.Gln550His(p.Q550H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7585931:7585931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1078G>T
AA Mutation	p.Val360Leu(p.V360L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7640805:7640805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.350A>C
AA Mutation	p.Lys117Thr(p.K117T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7637321:7637321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.559G>A
AA Mutation	p.Val187Met(p.V187M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7616039:7616039(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.882G>T
AA Mutation	p.Lys294Asn(p.K294N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7579944:7579944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770290121
CDS Mutation	c.1229C>T
AA Mutation	p.Thr410Met(p.T410M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7640772:7640772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.383A>C
AA Mutation	p.Lys128Thr(p.K128T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7580037:7580037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1136G>T
AA Mutation	p.Arg379Met(p.R379M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7576625:7576625(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1806G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7637235:7637235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.645C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7576463:7576463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1968C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7566187:7566187(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2370G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7577006:7577006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148515073
CDS Mutation	c.1425C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7566178:7566178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142836742
CDS Mutation	c.2379C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7580012:7580012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1161C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7642058:7642058(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.168G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7566373:7566373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs543300408
CDS Mutation	c.2184C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7563086:7563086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2826C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7579931:7579931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145737784
CDS Mutation	c.1242G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7637355:7637355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755556933
CDS Mutation	c.525C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7617269:7617269(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.666T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397146
Start	7569749:7569749(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2068delC
AA Mutation	p.Leu690Ter(p.L690*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397146
Start	7576937:7576937(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1494delC
AA Mutation	p.Thr499ProfsTer43(p.T499Pfs*43)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397146
Start	7576955:7576955(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1476delC
AA Mutation	p.Ser493AlafsTer49(p.S493Afs*49)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	stop_gained
Transcription ID	ENST00000397146
Start	7579903:7579903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144839179
CDS Mutation	c.1270C>T
AA Mutation	p.Arg424Ter(p.R424*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	stop_gained
Transcription ID	ENST00000397146
Start	7566096:7566096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374503043
CDS Mutation	c.2461C>T
AA Mutation	p.Arg821Ter(p.R821*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	stop_gained
Transcription ID	ENST00000397146
Start	7640812:7640812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.343G>T
AA Mutation	p.Glu115Ter(p.E115*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> ITIH5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7640827:7640827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762195658
CDS Mutation	c.328G>A
AA Mutation	p.Glu110Lys(p.E110K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7566165:7566165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375493607
CDS Mutation	c.2392G>A
AA Mutation	p.Val798Ile(p.V798I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7566315:7566315(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2242A>T
AA Mutation	p.Ile748Phe(p.I748F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7569745:7569745(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2072G>T
AA Mutation	p.Ser691Ile(p.S691I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397146
Start	7616026:7616026(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199952014
CDS Mutation	c.895G>A
AA Mutation	p.Val299Met(p.V299M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7579775:7579775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs36064186
CDS Mutation	c.1398C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397146
Start	7576901:7576901(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs578011384
CDS Mutation	c.1530G>A
Mutation Classification	Silent
Feature Type	Transcript