Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NLRP5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027027:56027027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755561003
CDS Mutation	c.794C>T
AA Mutation	p.Thr265Met(p.T265M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027025:56027025(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.792A>T
AA Mutation	p.Gln264His(p.Q264H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56032720:56032720(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144876069
CDS Mutation	c.2386C>T
AA Mutation	p.Arg796Trp(p.R796W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027458:56027458(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367708838
CDS Mutation	c.1225G>A
AA Mutation	p.Val409Ile(p.V409I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56003823:56003823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369349527
CDS Mutation	c.170C>T
AA Mutation	p.Ser57Leu(p.S57L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027408:56027408(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1175G>A
AA Mutation	p.Arg392His(p.R392H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027044:56027044(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.811G>A
AA Mutation	p.Asp271Asn(p.D271N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56053721:56053721(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3212A>T
AA Mutation	p.Asp1071Val(p.D1071V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56003772:56003772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.119T>C
AA Mutation	p.Phe40Ser(p.F40S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027630:56027630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1397A>G
AA Mutation	p.Asp466Gly(p.D466G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027831:56027831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752560793
CDS Mutation	c.1598G>A
AA Mutation	p.Arg533His(p.R533H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56028442:56028442(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs537471101
CDS Mutation	c.2209C>T
AA Mutation	p.Arg737Trp(p.R737W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027783:56027783(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201329420
CDS Mutation	c.1550G>A
AA Mutation	p.Arg517Gln(p.R517Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027821:56027821(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200705062
CDS Mutation	c.1588C>T
AA Mutation	p.Arg530Cys(p.R530C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027704:56027704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368451354
CDS Mutation	c.1471G>A
AA Mutation	p.Val491Ile(p.V491I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56033575:56033575(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2481G>T
AA Mutation	p.Gln827His(p.Q827H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56053799:56053799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377588935
CDS Mutation	c.3290C>T
AA Mutation	p.Ala1097Val(p.A1097V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56019389:56019389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.613G>A
AA Mutation	p.Glu205Lys(p.E205K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56041068:56041068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2933C>T
AA Mutation	p.Pro978Leu(p.P978L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027033:56027033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.800C>T
AA Mutation	p.Ala267Val(p.A267V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56028334:56028334(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368914781
CDS Mutation	c.2101C>T
AA Mutation	p.Arg701Cys(p.R701C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027964:56027964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1731G>T
AA Mutation	p.Glu577Asp(p.E577D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56053727:56053727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201338049
CDS Mutation	c.3218C>T
AA Mutation	p.Thr1073Met(p.T1073M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56038098:56038098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2689A>G
AA Mutation	p.Lys897Glu(p.K897E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56027394:56027394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753433376
CDS Mutation	c.1161G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56027016:56027016(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.783G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56028021:56028021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1788C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56050547:56050547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs544578557
CDS Mutation	c.3087C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56027880:56027880(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs185330237
CDS Mutation	c.1647C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56058390:56058390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376501237
CDS Mutation	c.3450G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	55999767:55999767(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.42G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56026962:56026962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.729C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000390649
Start	56027677:56027677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1444C>T
AA Mutation	p.Gln482Ter(p.Q482*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000390649
Start	56015792:56015792(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.559G>T
AA Mutation	p.Glu187Ter(p.E187*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000390649
Start	56058352:56058353(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3412_3413insATC
AA Mutation	p.Gly1138delinsAspArg(p.G1138delinsDR)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> NLRP5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56028481:56028481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs61745533
CDS Mutation	c.2248G>A
AA Mutation	p.Ala750Thr(p.A750T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027599:56027599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780213439
CDS Mutation	c.1366C>T
AA Mutation	p.Arg456Cys(p.R456C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56027776:56027776(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200417782
CDS Mutation	c.1543G>A
AA Mutation	p.Val515Met(p.V515M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56028052:56028052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1819C>A
AA Mutation	p.Leu607Ile(p.L607I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56028353:56028353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2120T>G
AA Mutation	p.Phe707Cys(p.F707C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000390649
Start	56058340:56058340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3400T>G
AA Mutation	p.Phe1134Val(p.F1134V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56026962:56026962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.729C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56028042:56028042(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754634321
CDS Mutation	c.1809C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56028165:56028165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776601668
CDS Mutation	c.1932C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56028189:56028189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1956G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56003902:56003902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756421184
CDS Mutation	c.249A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000390649
Start	56027325:56027325(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1092C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000390649
Start	56032609:56032609(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2277-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript