Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MSH6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47791054:47791054(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.388C>A
AA Mutation	p.His130Asn(p.H130N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47798680:47798680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.697C>T
AA Mutation	p.Pro233Ser(p.P233S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47795959:47795959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.523G>A
AA Mutation	p.Ala175Thr(p.A175T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47799065:47799065(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750440
CDS Mutation	c.1082G>A
AA Mutation	p.Arg361His(p.R361H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47799353:47799353(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1370C>A
AA Mutation	p.Ala457Asp(p.A457D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47801002:47801002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3019T>A
AA Mutation	p.Trp1007Arg(p.W1007R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47803531:47803531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750253
CDS Mutation	c.3284G>A
AA Mutation	p.Arg1095His(p.R1095H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47806280:47806280(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3723T>G
AA Mutation	p.Cys1241Trp(p.C1241W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47801053:47801053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370505117
CDS Mutation	c.3070C>T
AA Mutation	p.Arg1024Trp(p.R1024W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47800178:47800178(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749746725
CDS Mutation	c.2195G>A
AA Mutation	p.Arg732Gln(p.R732Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47800608:47800608(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2625G>T
AA Mutation	p.Met875Ile(p.M875I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47803474:47803474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779617676
CDS Mutation	c.3227G>A
AA Mutation	p.Arg1076His(p.R1076H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47800134:47800134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2151C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47803433:47803433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3186C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47798676:47798676(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.693A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47800215:47800215(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2232G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47800827:47800827(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2844A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47803547:47803547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs540252208
CDS Mutation	c.3300G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47803634:47803634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3387T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47804948:47804948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs398123231
CDS Mutation	c.3477C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234420
Start	47800626:47800626(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2646delT
AA Mutation	p.Phe882LeufsTer24(p.F882Lfs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000234420
Start	47800819:47800819(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2836G>T
AA Mutation	p.Glu946Ter(p.E946*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000234420
Start	47806614:47806614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3964G>T
AA Mutation	p.Glu1322Ter(p.E1322*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000234420
Start	47798725:47798725(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63749980
CDS Mutation	c.742C>T
AA Mutation	p.Arg248Ter(p.R248*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234420
Start	47803500:47803501(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs748452299
CDS Mutation	c.3261dupC
AA Mutation	p.Phe1088LeufsTer5(p.F1088Lfs*5)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234420
Start	47803552:47803553(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.3312dupT
AA Mutation	p.Gly1105TrpfsTer3(p.G1105Wfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234420
Start	47798717:47798718(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.741dupA
AA Mutation	p.Arg248ThrfsTer8(p.R248Tfs*8)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000234420
Start	47791042:47791043(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.376_377insACATAA
AA Mutation	p.Ser126delinsTyrIleThr(p.S126delinsYIT)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> MSH6

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47803550:47803550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370353868
CDS Mutation	c.3303G>T
AA Mutation	p.Lys1101Asn(p.K1101N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47800918:47800918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2935C>G
AA Mutation	p.Leu979Val(p.L979V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47800851:47800851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2868G>T
AA Mutation	p.Glu956Asp(p.E956D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47795977:47795977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs569728764
CDS Mutation	c.541G>A
AA Mutation	p.Glu181Lys(p.E181K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000234420
Start	47806254:47806254(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3697A>C
AA Mutation	p.Lys1233Gln(p.K1233Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000234420
Start	47799273:47799273(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1290G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000234420
Start	47799793:47799793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1810G>T
AA Mutation	p.Glu604Ter(p.E604*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000234420
Start	47803598:47803599(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3353_3354dupAG
AA Mutation	p.Glu1119ArgfsTer27(p.E1119Rfs*27)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript