Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL6A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	46003511:46003511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766944483
CDS Mutation	c.2585C>T
AA Mutation	p.Ala862Val(p.A862V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000361866
Start	45997761:45997761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1523G>A
AA Mutation	p.Arg508Lys(p.R508K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	46002316:46002316(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758242849
CDS Mutation	c.2165G>A
AA Mutation	p.Arg722His(p.R722H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	46003696:46003696(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2770A>G
AA Mutation	p.Thr924Ala(p.T924A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	46003912:46003912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764765574
CDS Mutation	c.2986G>A
AA Mutation	p.Val996Met(p.V996M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45989129:45989129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912938
CDS Mutation	c.850G>A
AA Mutation	p.Gly284Arg(p.G284R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	46003547:46003547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2621C>T
AA Mutation	p.Ala874Val(p.A874V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45999660:45999660(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1744C>T
AA Mutation	p.Pro582Ser(p.P582S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45992207:45992207(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765826390
CDS Mutation	c.1226C>T
AA Mutation	p.Ala409Val(p.A409V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45987647:45987647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.797G>A
AA Mutation	p.Gly266Asp(p.G266D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	46003867:46003867(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2941C>A
AA Mutation	p.Pro981Thr(p.P981T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45990393:45990393(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764704372
CDS Mutation	c.973C>T
AA Mutation	p.Arg325Cys(p.R325C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	46002532:46002532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749698686
CDS Mutation	c.2256C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	46001314:46001314(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1884G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45982701:45982701(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762839635
CDS Mutation	c.165C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	46003908:46003908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369948305
CDS Mutation	c.2982C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	46003993:46003993(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3067A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45999158:45999158(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147210734
CDS Mutation	c.1680C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45992172:45992172(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs531640667
CDS Mutation	c.1191G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45986661:45986661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.564G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	46003920:46003920(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148405880
CDS Mutation	c.2994C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45992184:45992184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1203G>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45990404:45990404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781038607
CDS Mutation	c.984C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45998150:45998150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1554C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45987012:45987012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.657C>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45989766:45989766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.918C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000361866
Start	46002260:46002260(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2113delG
AA Mutation	p.Glu705ArgfsTer98(p.E705Rfs*98)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000361866
Start	45992036:45992036(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1149delG
AA Mutation	p.Arg384AspfsTer121(p.R384Dfs*121)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000361866
Start	45990377:45990377(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.958-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000361866
Start	45999157:45999159(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1681_1683delGAC
AA Mutation	p.Asp561del(p.D561del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> COL6A1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45992790:45992790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368239109
CDS Mutation	c.1315C>T
AA Mutation	p.Arg439Trp(p.R439W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45992028:45992028(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1138G>A
AA Mutation	p.Gly380Arg(p.G380R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45984390:45984390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150686304
CDS Mutation	c.349G>A
AA Mutation	p.Val117Met(p.V117M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45998405:45998405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs181256566
CDS Mutation	c.1583C>T
AA Mutation	p.Pro528Leu(p.P528L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45999210:45999210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1732G>T
AA Mutation	p.Gly578Cys(p.G578C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000361866
Start	45998425:45998425(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764556767
CDS Mutation	c.1603G>A
AA Mutation	p.Gly535Arg(p.G535R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45998902:45998902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753448235
CDS Mutation	c.1617G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	46002320:46002320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2169C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361866
Start	45998929:45998929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs182425338
CDS Mutation	c.1644C>T
Mutation Classification	Silent
Feature Type	Transcript