Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HEPHL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94021413:94021413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.45C>A
AA Mutation	p.Phe15Leu(p.F15L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94064358:94064358(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749277008
CDS Mutation	c.656G>A
AA Mutation	p.Arg219Gln(p.R219Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94111887:94111887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3473C>T
AA Mutation	p.Ala1158Val(p.A1158V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000315765
Start	94088968:94088968(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2294G>T
AA Mutation	p.Arg765Ile(p.R765I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94104742:94104742(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2897G>T
AA Mutation	p.Arg966Ile(p.R966I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94110987:94110987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3130A>G
AA Mutation	p.Thr1044Ala(p.T1044A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94070451:94070451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs12291622
CDS Mutation	c.1141C>T
AA Mutation	p.Arg381Cys(p.R381C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94073386:94073386(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1451T>C
AA Mutation	p.Leu484Ser(p.L484S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94075362:94075362(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1693G>T
AA Mutation	p.Val565Phe(p.V565F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94088830:94088830(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2156G>A
AA Mutation	p.Cys719Tyr(p.C719Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94103007:94103007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2669T>C
AA Mutation	p.Val890Ala(p.V890A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94093608:94093608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200108606
CDS Mutation	c.2402G>A
AA Mutation	p.Arg801Gln(p.R801Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94101247:94101247(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2487C>G
AA Mutation	p.Asn829Lys(p.N829K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94070470:94070470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1160A>C
AA Mutation	p.Glu387Ala(p.E387A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94063576:94063576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.484T>G
AA Mutation	p.Tyr162Asp(p.Y162D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94075225:94075225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1556A>G
AA Mutation	p.Lys519Arg(p.K519R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94082520:94082520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1819A>G
AA Mutation	p.Ser607Gly(p.S607G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000315765
Start	94070459:94070459(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1149T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000315765
Start	94063656:94063656(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375814141
CDS Mutation	c.564G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000315765
Start	94045811:94045811(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.309C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000315765
Start	94045709:94045709(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758594442
CDS Mutation	c.207G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000315765
Start	94067687:94067687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1000G>T
AA Mutation	p.Glu334Ter(p.E334*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000315765
Start	94070469:94070470(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1165dupA
AA Mutation	p.Ile389AsnfsTer11(p.I389Nfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> HEPHL1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94104715:94104715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560380759
CDS Mutation	c.2870G>A
AA Mutation	p.Arg957His(p.R957H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94075324:94075324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1655C>A
AA Mutation	p.Ser552Tyr(p.S552Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94093519:94093519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2313G>A
AA Mutation	p.Met771Ile(p.M771I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94110919:94110919(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs554555752
CDS Mutation	c.3062G>A
AA Mutation	p.Arg1021Gln(p.R1021Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94073123:94073123(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1331G>T
AA Mutation	p.Arg444Ile(p.R444I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000315765
Start	94104647:94104647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2802G>T
AA Mutation	p.Glu934Asp(p.E934D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000315765
Start	94067549:94067549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.862G>T
AA Mutation	p.Glu288Ter(p.E288*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000315765
Start	94082532:94082532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1831G>T
AA Mutation	p.Glu611Ter(p.E611*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript