Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL17A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104035513:104035513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3469C>T
AA Mutation	p.Pro1157Ser(p.P1157S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104055893:104055893(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1576G>T
AA Mutation	p.Gly526Cys(p.G526C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000353479
Start	104049469:104049469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs532751897
CDS Mutation	c.2167G>A
AA Mutation	p.Glu723Lys(p.E723K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104055947:104055947(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1522A>G
AA Mutation	p.Ser508Gly(p.S508G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000353479
Start	104039610:104039610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763104222
CDS Mutation	c.2819C>T
AA Mutation	p.Ser940Leu(p.S940L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104041329:104041329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2621G>A
AA Mutation	p.Gly874Asp(p.G874D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104035498:104035498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3484G>A
AA Mutation	p.Glu1162Lys(p.E1162K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104037662:104037662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3182C>T
AA Mutation	p.Ala1061Val(p.A1061V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104034031:104034031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4070C>T
AA Mutation	p.Ala1357Val(p.A1357V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104034193:104034193(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912771
CDS Mutation	c.3908G>A
AA Mutation	p.Arg1303Gln(p.R1303Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104034143:104034143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3958T>C
AA Mutation	p.Ser1320Pro(p.S1320P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104074199:104074199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.364C>A
AA Mutation	p.Pro122Thr(p.P122T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104053130:104053130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1840C>A
AA Mutation	p.Pro614Thr(p.P614T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104059689:104059689(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1171G>C
AA Mutation	p.Glu391Gln(p.E391Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104038464:104038464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368653483
CDS Mutation	c.3012G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104057084:104057084(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745936656
CDS Mutation	c.1356G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104039473:104039473(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs61731077
CDS Mutation	c.2868T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104055978:104055978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143263539
CDS Mutation	c.1491G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104060258:104060258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141844864
CDS Mutation	c.1002C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104037679:104037679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3165C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104035369:104035369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3513T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000353479
Start	104059690:104059690(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs769586532
CDS Mutation	c.1170delA
AA Mutation	p.Glu391LysfsTer12(p.E391Kfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000353479
Start	104034701:104034701(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3686delC
AA Mutation	p.Pro1229ArgfsTer22(p.P1229Rfs*22)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000353479
Start	104042431:104042431(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2540delC
AA Mutation	p.Pro847GlnfsTer219(p.P847Qfs*219)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000353479
Start	104072062:104072062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912774
CDS Mutation	c.433C>T
AA Mutation	p.Arg145Ter(p.R145*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> COL17A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104039502:104039502(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2839C>A
AA Mutation	p.Leu947Ile(p.L947I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000353479
Start	104034128:104034128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767927119
CDS Mutation	c.3973G>A
AA Mutation	p.Gly1325Ser(p.G1325S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104039506:104039506(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144329737
CDS Mutation	c.2835C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000353479
Start	104057117:104057117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1323T>C
Mutation Classification	Silent
Feature Type	Transcript