Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CLCA4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86571170:86571170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1276G>A
AA Mutation	p.Val426Met(p.V426M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86571182:86571182(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1288G>A
AA Mutation	p.Gly430Arg(p.G430R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86565436:86565436(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.720G>A
AA Mutation	p.Met240Ile(p.M240I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86567443:86567443(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.974G>A
AA Mutation	p.Arg325Gln(p.R325Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86575556:86575556(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1908G>T
AA Mutation	p.Gln636His(p.Q636H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86575366:86575366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs778796052
CDS Mutation	c.1718C>T
AA Mutation	p.Ala573Val(p.A573V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86559954:86559954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751030317
CDS Mutation	c.182C>T
AA Mutation	p.Thr61Met(p.T61M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86567599:86567599(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1130C>T
AA Mutation	p.Thr377Ile(p.T377I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86563694:86563694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377252384
CDS Mutation	c.482G>A
AA Mutation	p.Arg161Gln(p.R161Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000370563
Start	86578072:86578072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748985367
CDS Mutation	c.2122G>A
AA Mutation	p.Gly708Arg(p.G708R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000370563
Start	86565450:86565450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.734C>A
AA Mutation	p.Ser245Tyr(p.S245Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86574543:86574543(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201791111
CDS Mutation	c.1471G>A
AA Mutation	p.Glu491Lys(p.E491K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86565997:86565997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.931C>A
AA Mutation	p.Leu311Ile(p.L311I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86574738:86574738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1666A>G
AA Mutation	p.Ile556Val(p.I556V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86579948:86579948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374250322
CDS Mutation	c.2363G>A
AA Mutation	p.Arg788His(p.R788H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370563
Start	86580117:86580117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2532C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370563
Start	86563731:86563731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.519T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370563
Start	86575490:86575490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372874690
CDS Mutation	c.1842C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370563
Start	86567549:86567549(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1080C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370563
Start	86560330:86560330(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.426delA
AA Mutation	p.Lys142AsnfsTer96(p.K142Nfs*96)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370563
Start	86563749:86563749(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs760255767
CDS Mutation	c.544delA
AA Mutation	p.Ile182SerfsTer56(p.I182Sfs*56)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000370563
Start	86560008:86560008(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773085050
CDS Mutation	c.236T>G
AA Mutation	p.Leu79Ter(p.L79*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000370563
Start	86580149:86580149(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2564C>A
AA Mutation	p.Ser855Ter(p.S855*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370563
Start	86559974:86559975(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs757075385
CDS Mutation	c.208dupA
AA Mutation	p.Arg70LysfsTer13(p.R70Kfs*13)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370563
Start	86580120:86580121(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2539dupA
AA Mutation	p.Ser847LysfsTer4(p.S847Kfs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000370563
Start	86559931:86559931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.160-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000370563
Start	86574740:86574741(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1668_1669insAATCCCTTA
AA Mutation	p.Ile556_Pro557insAsnProLeu(p.I556_P557insNPL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CLCA4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86560019:86560019(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.247A>G
AA Mutation	p.Asn83Asp(p.N83D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86572700:86572700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1447C>A
AA Mutation	p.Leu483Ile(p.L483I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86575384:86575384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1736C>A
AA Mutation	p.Thr579Asn(p.T579N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000370563
Start	86547188:86547188(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.69C>A
AA Mutation	p.Phe23Leu(p.F23L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370563
Start	86565406:86565406(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.690A>G
Mutation Classification	Silent
Feature Type	Transcript