Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MSH2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47466796:47466796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1649A>C
AA Mutation	p.Lys550Thr(p.K550T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47466762:47466762(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1615T>G
AA Mutation	p.Phe539Val(p.F539V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47416405:47416405(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1052T>C
AA Mutation	p.Met351Thr(p.M351T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47408438:47408438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.249G>T
AA Mutation	p.Met83Ile(p.M83I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47410229:47410229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.502T>C
AA Mutation	p.Ser168Pro(p.S168P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47414389:47414389(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63751454
CDS Mutation	c.913G>A
AA Mutation	p.Ala305Thr(p.A305T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47476451:47476451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750398
CDS Mutation	c.2090G>A
AA Mutation	p.Cys697Tyr(p.C697Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47478457:47478457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2396A>G
AA Mutation	p.Asn799Ser(p.N799S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47478276:47478276(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2215G>A
AA Mutation	p.Ala739Thr(p.A739T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47410301:47410301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.574A>G
AA Mutation	p.Ile192Val(p.I192V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47416354:47416354(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1001A>C
AA Mutation	p.Lys334Thr(p.K334T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47429757:47429757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1092A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47480817:47480817(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752428475
CDS Mutation	c.2580G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47416394:47416394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1041G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47482808:47482808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2664G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47412458:47412458(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.690T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47478309:47478309(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs527725593
CDS Mutation	c.2248T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233146
Start	47475170:47475170(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1905A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47470996:47470996(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1697delA
AA Mutation	p.Asn566IlefsTer24(p.N566Ifs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47466697:47466698(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1552_1553delCA
AA Mutation	p.Gln518ValfsTer10(p.Q518Vfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47478472:47478478(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2415_2421delCACCACT
AA Mutation	p.Thr806LysfsTer4(p.T806Kfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47429809:47429821(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1144_1156delCGTCGATTCCCAG
AA Mutation	p.Arg382IlefsTer26(p.R382Ifs*26)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000233146
Start	47471041:47471041(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63751411
CDS Mutation	c.1738G>T
AA Mutation	p.Glu580Ter(p.E580*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000233146
Start	47476492:47476492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs63750636
CDS Mutation	c.2131C>T
AA Mutation	p.Arg711Ter(p.R711*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47478497:47478498(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.2437dupA
AA Mutation	p.Met813AsnfsTer11(p.M813Nfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47408491:47408492(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.302_303insGATATTAC
AA Mutation	p.Val102IlefsTer75(p.V102Ifs*75)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> MSH2

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000233146
Start	47416427:47416427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1074G>T
AA Mutation	p.Glu358Asp(p.E358D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47429882:47429882(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146567853
CDS Mutation	c.1217G>A
AA Mutation	p.Arg406Gln(p.R406Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47429899:47429899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1234A>C
AA Mutation	p.Asn412His(p.N412H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47412417:47412417(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.649A>C
AA Mutation	p.Ile217Leu(p.I217L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47429800:47429800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764911657
CDS Mutation	c.1135G>T
AA Mutation	p.Asp379Tyr(p.D379Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000233146
Start	47416412:47416412(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1059G>T
AA Mutation	p.Lys353Asn(p.K353N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233146
Start	47466745:47466745(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1599delT
AA Mutation	p.Arg534ValfsTer9(p.R534Vfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000233146
Start	47482778:47482778(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2635-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript