Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MED13

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61950908:61950908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6208T>G
AA Mutation	p.Ser2070Ala(p.S2070A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61950983:61950983(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6133C>T
AA Mutation	p.Arg2045Trp(p.R2045W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62010941:62010941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377536341
CDS Mutation	c.1576G>A
AA Mutation	p.Glu526Lys(p.E526K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62029562:62029562(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1262G>T
AA Mutation	p.Arg421Ile(p.R421I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62010669:62010669(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1848G>T
AA Mutation	p.Lys616Asn(p.K616N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61982453:61982453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3550T>G
AA Mutation	p.Leu1184Val(p.L1184V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61965321:61965321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377624680
CDS Mutation	c.4529C>T
AA Mutation	p.Ala1510Val(p.A1510V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61982551:61982551(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147399023
CDS Mutation	c.3452G>A
AA Mutation	p.Arg1151His(p.R1151H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61982518:61982518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536146936
CDS Mutation	c.3485G>A
AA Mutation	p.Arg1162His(p.R1162H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62063265:62063265(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.103T>C
AA Mutation	p.Trp35Arg(p.W35R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61961074:61961074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757089161
CDS Mutation	c.5273G>A
AA Mutation	p.Arg1758Gln(p.R1758Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61961763:61961763(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5081A>G
AA Mutation	p.Tyr1694Cys(p.Y1694C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61956426:61956426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5536T>C
AA Mutation	p.Trp1846Arg(p.W1846R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61955728:61955728(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5734G>A
AA Mutation	p.Ala1912Thr(p.A1912T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61972760:61972760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3934C>A
AA Mutation	p.Gln1312Lys(p.Q1312K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61982354:61982354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3649A>C
AA Mutation	p.Ile1217Leu(p.I1217L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62031448:62031448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1005A>C
AA Mutation	p.Gln335His(p.Q335H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61955439:61955439(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5911G>A
AA Mutation	p.Val1971Ile(p.V1971I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62029983:62029983(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374567495
CDS Mutation	c.1040A>G
AA Mutation	p.Lys347Arg(p.K347R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62011105:62011105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745571684
CDS Mutation	c.1412G>A
AA Mutation	p.Arg471His(p.R471H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397786
Start	61961726:61961726(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5118C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397786
Start	61955479:61955479(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5871T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397786
Start	62033908:62033908(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.693delA
AA Mutation	p.Lys231AsnfsTer2(p.K231Nfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000397786
Start	61995259:61995259(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2074G>T
AA Mutation	p.Glu692Ter(p.E692*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397786
Start	61995157:61995158(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2175dupA
AA Mutation	p.His726ThrfsTer9(p.H726Tfs*9)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397786
Start	62010630:62010631(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1886dupT
AA Mutation	p.Leu629PhefsTer8(p.L629Ffs*8)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000397786
Start	61995190:61995191(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2142_2143insTCTATTCTA
AA Mutation	p.Asp714_Arg715insSerIleLeu(p.D714_R715insSIL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> MED13

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000397786
Start	61965006:61965006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4844G>T
AA Mutation	p.Ser1615Ile(p.S1615I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61984811:61984811(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2531T>C
AA Mutation	p.Ile844Thr(p.I844T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61965132:61965132(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4718C>G
AA Mutation	p.Ser1573Cys(p.S1573C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61955770:61955770(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5692A>T
AA Mutation	p.Met1898Leu(p.M1898L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	61968069:61968069(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4157A>G
AA Mutation	p.Lys1386Arg(p.K1386R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62052563:62052563(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.444A>C
AA Mutation	p.Glu148Asp(p.E148D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000397786
Start	62063174:62063174(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.194T>C
AA Mutation	p.Val65Ala(p.V65A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397786
Start	61984320:61984320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2739A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397786
Start	61965026:61965026(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372390031
CDS Mutation	c.4824G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397786
Start	62010795:62010795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1722A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397786
Start	61982946:61982946(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3057G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397786
Start	61972831:61972876(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3818_3863delAGTGCTCACAGGATATACTTCGAATGCTCCTCTCTCTTCAGCCAGT
AA Mutation	p.Gln1273LeufsTer12(p.Q1273Lfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000397786
Start	61966645:61966645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4198C>T
AA Mutation	p.Arg1400Ter(p.R1400*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript