Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL4A2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110504184:110504184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4322G>A
AA Mutation	p.Gly1441Glu(p.G1441E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110462298:110462298(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374304814
CDS Mutation	c.1690G>A
AA Mutation	p.Val564Ile(p.V564I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110491271:110491271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3385G>A
AA Mutation	p.Asp1129Asn(p.D1129N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110508069:110508069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4729C>T
AA Mutation	p.Pro1577Ser(p.P1577S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110491277:110491277(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374458070
CDS Mutation	c.3391G>A
AA Mutation	p.Gly1131Ser(p.G1131S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110512163:110512163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747313370
CDS Mutation	c.5111G>A
AA Mutation	p.Arg1704His(p.R1704H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110307944:110307944(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.41G>A
AA Mutation	p.Arg14Gln(p.R14Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110506536:110506536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4524G>A
AA Mutation	p.Met1508Ile(p.M1508I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110503904:110503904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4196T>C
AA Mutation	p.Val1399Ala(p.V1399A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110462141:110462141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1624G>A
AA Mutation	p.Gly542Arg(p.G542R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110473123:110473123(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2398G>A
AA Mutation	p.Gly800Arg(p.G800R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000360467
Start	110485026:110485026(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3024A>C
AA Mutation	p.Lys1008Asn(p.K1008N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110307908:110307908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5G>A
AA Mutation	p.Gly2Glu(p.G2E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110450352:110450352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1237G>A
AA Mutation	p.Gly413Arg(p.G413R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110512021:110512021(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4969G>A
AA Mutation	p.Glu1657Lys(p.E1657K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000360467
Start	110449787:110449787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1187G>A
AA Mutation	p.Gly396Glu(p.G396E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000360467
Start	110424866:110424866(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772439696
CDS Mutation	c.313G>A
AA Mutation	p.Val105Met(p.V105M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110492113:110492113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3498G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110512164:110512164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5112C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110511951:110511951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755485791
CDS Mutation	c.4899C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110503215:110503215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3972C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110482613:110482613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747574881
CDS Mutation	c.2856C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110450378:110450378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757264758
CDS Mutation	c.1263C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110458805:110458805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748763102
CDS Mutation	c.1467C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110445867:110445867(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.996A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110458862:110458862(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1524C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110424808:110424808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.255A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110506452:110506452(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4440T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110512122:110512122(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199809827
CDS Mutation	c.5070C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000360467
Start	110473134:110473134(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2414delC
AA Mutation	p.Pro805LeufsTer15(p.P805Lfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000360467
Start	110485794:110485794(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3170delC
AA Mutation	p.Pro1057LeufsTer10(p.P1057Lfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000360467
Start	110503987:110503987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4279G>T
AA Mutation	p.Glu1427Ter(p.E1427*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> COL4A2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110458899:110458899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1561G>A
AA Mutation	p.Gly521Ser(p.G521S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000360467
Start	110430579:110430579(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.620T>A
AA Mutation	p.Met207Lys(p.M207K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110424781:110424781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.228A>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110450429:110450429(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1314G>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110480380:110480380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371759473
CDS Mutation	c.2748C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000360467
Start	110485704:110485704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3075G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000360467
Start	110473134:110473134(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2414delC
AA Mutation	p.Pro805LeufsTer15(p.P805Lfs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript