Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MED13L

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116003006:116003006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2566C>G
AA Mutation	p.Pro856Ala(p.P856A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115983204:115983204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201484832
CDS Mutation	c.4868C>T
AA Mutation	p.Ala1623Val(p.A1623V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115970718:115970718(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5943G>T
AA Mutation	p.Gln1981His(p.Q1981H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116019404:116019404(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.829C>T
AA Mutation	p.Arg277Trp(p.R277W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115983213:115983213(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775899433
CDS Mutation	c.4859G>A
AA Mutation	p.Gly1620Asp(p.G1620D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115991403:115991403(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3551T>C
AA Mutation	p.Leu1184Ser(p.L1184S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116007418:116007418(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2231A>G
AA Mutation	p.Lys744Arg(p.K744R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115980835:115980835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777003546
CDS Mutation	c.5279G>A
AA Mutation	p.Arg1760Gln(p.R1760Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116003062:116003062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781696534
CDS Mutation	c.2510T>C
AA Mutation	p.Val837Ala(p.V837A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116006340:116006340(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2310T>G
AA Mutation	p.Asn770Lys(p.N770K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115983499:115983499(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4573A>G
AA Mutation	p.Ile1525Val(p.I1525V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115986293:115986293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4311C>A
AA Mutation	p.Phe1437Leu(p.F1437L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116008722:116008722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753461956
CDS Mutation	c.1691G>A
AA Mutation	p.Arg564Gln(p.R564Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116003023:116003023(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2549C>T
AA Mutation	p.Ala850Val(p.A850V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115980808:115980808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5306A>C
AA Mutation	p.Lys1769Thr(p.K1769T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115975540:115975540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs182752795
CDS Mutation	c.5563G>A
AA Mutation	p.Val1855Ile(p.V1855I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000281928
Start	116096669:116096669(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.479G>T
AA Mutation	p.Ser160Ile(p.S160I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116019827:116019827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148136300
CDS Mutation	c.771C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	115986398:115986398(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770880941
CDS Mutation	c.4206G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116006346:116006346(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2304G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116005968:116005968(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2370C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116006355:116006355(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2295G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116019941:116019941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.657G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	115986362:115986362(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4242C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116019839:116019839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754058371
CDS Mutation	c.759G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116008772:116008772(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1641A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116022520:116022520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.561G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000281928
Start	115991696:115991696(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3258delC
AA Mutation	p.Ser1087LeufsTer27(p.S1087Lfs*27)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000281928
Start	115982484:115982486(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.5073_5075delGGA
AA Mutation	p.Glu1691del(p.E1691del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> MED13L

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	115986274:115986274(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4330G>T
AA Mutation	p.Val1444Leu(p.V1444L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116237536:116237536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.242A>C
AA Mutation	p.Lys81Thr(p.K81T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000281928
Start	116008930:116008930(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1483G>A
AA Mutation	p.Glu495Lys(p.E495K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	116019839:116019839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754058371
CDS Mutation	c.759G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000281928
Start	115996601:115996601(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771187948
CDS Mutation	c.2871G>A
Mutation Classification	Silent
Feature Type	Transcript