Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ITIH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7744871:7744871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372514815
CDS Mutation	c.2489G>A
AA Mutation	p.Arg830His(p.R830H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7717663:7717663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.505G>T
AA Mutation	p.Val169Leu(p.V169L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7717633:7717633(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377111707
CDS Mutation	c.475G>A
AA Mutation	p.Ala159Thr(p.A159T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7744868:7744868(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2486A>G
AA Mutation	p.His829Arg(p.H829R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7717768:7717768(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375764473
CDS Mutation	c.610C>T
AA Mutation	p.Arg204Trp(p.R204W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7720949:7720949(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.724A>G
AA Mutation	p.Lys242Glu(p.K242E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7731986:7731986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779849424
CDS Mutation	c.1637C>T
AA Mutation	p.Thr546Met(p.T546M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7726984:7726984(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1019T>G
AA Mutation	p.Leu340Arg(p.L340R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7730075:7730075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1403A>C
AA Mutation	p.Glu468Ala(p.E468A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7721704:7721704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201601009
CDS Mutation	c.794G>A
AA Mutation	p.Arg265Gln(p.R265Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7709061:7709061(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.232C>A
AA Mutation	p.Gln78Lys(p.Q78K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7727805:7727805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1256T>C
AA Mutation	p.Val419Ala(p.V419A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7732447:7732447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764977128
CDS Mutation	c.1757A>G
AA Mutation	p.Tyr586Cys(p.Y586C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7749207:7749207(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2714G>A
AA Mutation	p.Arg905Lys(p.R905K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7735049:7735049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1915A>G
AA Mutation	p.Met639Val(p.M639V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7717693:7717693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.535T>G
AA Mutation	p.Phe179Val(p.F179V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7749200:7749200(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2707G>T
AA Mutation	p.Asp903Tyr(p.D903Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7727001:7727001(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1036T>G
AA Mutation	p.Phe346Val(p.F346V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7721713:7721713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141514196
CDS Mutation	c.803C>T
AA Mutation	p.Ala268Val(p.A268V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7727799:7727799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766693296
CDS Mutation	c.1250T>C
AA Mutation	p.Ile417Thr(p.I417T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7721655:7721655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376208756
CDS Mutation	c.745G>A
AA Mutation	p.Val249Ile(p.V249I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7721654:7721654(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775362609
CDS Mutation	c.744C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7709126:7709126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201804703
CDS Mutation	c.297G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7732379:7732379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs553454623
CDS Mutation	c.1689C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7723540:7723540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772546715
CDS Mutation	c.957C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7749232:7749232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773289080
CDS Mutation	c.2739C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7720927:7720927(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148694864
CDS Mutation	c.702C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7717695:7717695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779632535
CDS Mutation	c.537C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7749298:7749298(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2805C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000358415
Start	7727063:7727063(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1102delA
AA Mutation	p.Thr368HisfsTer32(p.T368Hfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> ITIH2

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000358415
Start	7731995:7731995(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778895451
CDS Mutation	c.1646C>T
AA Mutation	p.Ser549Leu(p.S549L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7744856:7744856(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2474C>A
AA Mutation	p.Ser825Tyr(p.S825Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7731937:7731937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1588G>A
AA Mutation	p.Ala530Thr(p.A530T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7734951:7734951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1817G>T
AA Mutation	p.Arg606Ile(p.R606I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000358415
Start	7720865:7720865(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.640T>A
AA Mutation	p.Trp214Arg(p.W214R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7721675:7721675(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.765A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7731987:7731987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150260189
CDS Mutation	c.1638G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7720927:7720927(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148694864
CDS Mutation	c.702C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000358415
Start	7738634:7738634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376027605
CDS Mutation	c.1971C>T
Mutation Classification	Silent
Feature Type	Transcript