Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> FANCM

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45188890:45188890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4868T>G
AA Mutation	p.Val1623Gly(p.V1623G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45175316:45175316(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2562G>T
AA Mutation	p.Lys854Asn(p.K854N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45198892:45198892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5965A>C
AA Mutation	p.Asn1989His(p.N1989H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45155385:45155385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1322A>C
AA Mutation	p.Lys441Thr(p.K441T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45175784:45175784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3030A>C
AA Mutation	p.Glu1010Asp(p.E1010D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176619:45176619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3865T>G
AA Mutation	p.Phe1289Val(p.F1289V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176134:45176134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3380C>G
AA Mutation	p.Ser1127Cys(p.S1127C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45154784:45154784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139726733
CDS Mutation	c.1271G>A
AA Mutation	p.Arg424His(p.R424H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45154040:45154040(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1171G>A
AA Mutation	p.Asp391Asn(p.D391N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45136159:45136159(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767799451
CDS Mutation	c.128C>T
AA Mutation	p.Pro43Leu(p.P43L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176795:45176795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4041G>T
AA Mutation	p.Leu1347Phe(p.L1347F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45159218:45159218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1519A>T
AA Mutation	p.Thr507Ser(p.T507S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45196410:45196410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776506025
CDS Mutation	c.5579G>A
AA Mutation	p.Arg1860His(p.R1860H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45189108:45189108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5086A>G
AA Mutation	p.Lys1696Glu(p.K1696E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45198839:45198839(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5912A>G
AA Mutation	p.Glu1971Gly(p.E1971G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45136266:45136266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.235G>A
AA Mutation	p.Ala79Thr(p.A79T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45187810:45187810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4702T>C
AA Mutation	p.Ser1568Pro(p.S1568P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45189004:45189004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4982A>C
AA Mutation	p.Lys1661Thr(p.K1661T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45196509:45196509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5678G>T
AA Mutation	p.Arg1893Ile(p.R1893I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45155416:45155416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771239660
CDS Mutation	c.1353G>T
AA Mutation	p.Lys451Asn(p.K451N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176856:45176856(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4102G>T
AA Mutation	p.Val1368Leu(p.V1368L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176581:45176581(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753876341
CDS Mutation	c.3827C>T
AA Mutation	p.Ser1276Leu(p.S1276L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176190:45176190(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142077813
CDS Mutation	c.3436G>A
AA Mutation	p.Asp1146Asn(p.D1146N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45167101:45167101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1940A>G
AA Mutation	p.Tyr647Cys(p.Y647C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45154706:45154706(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs530233908
CDS Mutation	c.1193G>A
AA Mutation	p.Arg398Gln(p.R398Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45189124:45189124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758177952
CDS Mutation	c.5102A>G
AA Mutation	p.Gln1701Arg(p.Q1701R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000267430
Start	45136127:45136127(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.96T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000267430
Start	45137202:45137202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.642T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000267430
Start	45136388:45136388(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.357T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000267430
Start	45176186:45176186(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374047969
CDS Mutation	c.3432C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000267430
Start	45151468:45151468(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.993delA
AA Mutation	p.Lys331AsnfsTer4(p.K331Nfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000267430
Start	45167133:45167133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs368728266
CDS Mutation	c.1972C>T
AA Mutation	p.Arg658Ter(p.R658*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000267430
Start	45175352:45175353(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2604dupA
AA Mutation	p.Glu869ArgfsTer3(p.E869Rfs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> FANCM

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45167134:45167134(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763495035
CDS Mutation	c.1973G>A
AA Mutation	p.Arg658Gln(p.R658Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45198719:45198719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773595869
CDS Mutation	c.5792G>A
AA Mutation	p.Arg1931Gln(p.R1931Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45189250:45189250(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5228C>G
AA Mutation	p.Ser1743Cys(p.S1743C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45198737:45198737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5810G>T
AA Mutation	p.Cys1937Phe(p.C1937F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45175135:45175135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2381T>G
AA Mutation	p.Phe794Cys(p.F794C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45164482:45164482(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1705C>T
AA Mutation	p.Arg569Cys(p.R569C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45170692:45170692(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2106G>T
AA Mutation	p.Glu702Asp(p.E702D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45175926:45175926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3172A>C
AA Mutation	p.Asn1058His(p.N1058H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45175309:45175309(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2555C>A
AA Mutation	p.Ser852Tyr(p.S852Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45175643:45175643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2889C>A
AA Mutation	p.Phe963Leu(p.F963L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000267430
Start	45176034:45176034(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3280T>G
AA Mutation	p.Leu1094Val(p.L1094V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000267430
Start	45148879:45148879(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.802G>T
AA Mutation	p.Glu268Ter(p.E268*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript