Colon Cancer: Gene >> ITIH3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52799002:52799002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779224896
CDS Mutation	c.700C>T
AA Mutation	p.Arg234Cys(p.R234C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52800655:52800655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1193C>T
AA Mutation	p.Ala398Val(p.A398V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52808625:52808625(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779110584
CDS Mutation	c.2617G>A
AA Mutation	p.Gly873Arg(p.G873R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52803986:52803986(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1841C>T
AA Mutation	p.Ala614Val(p.A614V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52794886:52794886(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768027400
CDS Mutation	c.83G>A
AA Mutation	p.Arg28Gln(p.R28Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000449956
Start	52805838:52805838(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1904T>C
AA Mutation	p.Leu635Pro(p.L635P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52800982:52800982(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1219A>C
AA Mutation	p.Lys407Gln(p.K407Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52802417:52802417(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1467G>T
AA Mutation	p.Gln489His(p.Q489H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000449956
Start	52803972:52803972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375386244
CDS Mutation	c.1827C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000449956
Start	52805815:52805815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1881G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000449956
Start	52796624:52796624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770180023
CDS Mutation	c.258G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000449956
Start	52796600:52796600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.234C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000449956
Start	52800561:52800561(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1099C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000449956
Start	52797113:52797146(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.395_428delGGAGGAAGTTGGAGAAGTTCACAGTCTCGGTCAA
AA Mutation	p.Gly132AlafsTer12(p.G132Afs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000449956
Start	52806971:52806971(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2127C>G
AA Mutation	p.Tyr709Ter(p.Y709*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000449956
Start	52799371:52799371(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.790-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> ITIH3

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52796575:52796575(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs192350744
CDS Mutation	c.209G>A
AA Mutation	p.Arg70His(p.R70H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52806916:52806916(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2072G>A
AA Mutation	p.Gly691Glu(p.G691E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52806965:52806965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2121G>T
AA Mutation	p.Lys707Asn(p.K707N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000449956
Start	52806383:52806383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747148462
CDS Mutation	c.2033G>A
AA Mutation	p.Arg678His(p.R678H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000449956
Start	52794851:52794851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.48C>T
Mutation Classification	Silent
Feature Type	Transcript