Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BMPR2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202532589:202532589(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1133G>A
AA Mutation	p.Gly378Asp(p.G378D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556361:202556361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137852752
CDS Mutation	c.2696G>A
AA Mutation	p.Arg899Gln(p.R899Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202467648:202467648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.377A>G
AA Mutation	p.Asn126Ser(p.N126S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202520153:202520153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.919T>C
AA Mutation	p.Ser307Pro(p.S307P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202555272:202555272(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201440272
CDS Mutation	c.1607G>A
AA Mutation	p.Arg536His(p.R536H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202464836:202464836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770128128
CDS Mutation	c.104C>T
AA Mutation	p.Ala35Val(p.A35V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202532714:202532714(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1258T>C
AA Mutation	p.Cys420Arg(p.C420R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202464890:202464890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.158A>G
AA Mutation	p.His53Arg(p.H53R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202552743:202552743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1441G>A
AA Mutation	p.Glu481Lys(p.E481K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202532685:202532685(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1229G>T
AA Mutation	p.Gly410Val(p.G410V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202514941:202514941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs397514497
CDS Mutation	c.583G>A
AA Mutation	p.Glu195Lys(p.E195K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202552867:202552867(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1565C>A
AA Mutation	p.Ser522Tyr(p.S522Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556004:202556004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2339A>G
AA Mutation	p.Asn780Ser(p.N780S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202532715:202532715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1259G>A
AA Mutation	p.Cys420Tyr(p.C420Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202467636:202467636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.365T>C
AA Mutation	p.Leu122Ser(p.L122S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202530845:202530845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1019T>A
AA Mutation	p.Leu340Gln(p.L340Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556175:202556175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2510A>G
AA Mutation	p.Asn837Ser(p.N837S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202555994:202555994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773965156
CDS Mutation	c.2329C>T
AA Mutation	p.His777Tyr(p.H777Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556283:202556283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201781338
CDS Mutation	c.2618G>A
AA Mutation	p.Arg873Gln(p.R873Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202532728:202532728(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1272C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202530844:202530844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1018C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202530880:202530881(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1055_1056delTT
AA Mutation	p.Phe352TrpfsTer10(p.F352Wfs*10)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202555407:202555407(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs772920507
CDS Mutation	c.1748delA
AA Mutation	p.Asn583ThrfsTer44(p.N583Tfs*44)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202518887:202518887(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.690delA
AA Mutation	p.Val231CysfsTer21(p.V231Cfs*21)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202542401:202542401(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1371delA
AA Mutation	p.Lys457AsnfsTer17(p.K457Nfs*17)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202555279:202555279(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1618delA
AA Mutation	p.Ile540LeufsTer24(p.I540Lfs*24)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202555675:202555675(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2013delA
AA Mutation	p.Glu672LysfsTer28(p.E672Kfs*28)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202532707:202532708(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1252_1253delAT
AA Mutation	p.Met418GlufsTer29(p.M418Efs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202464972:202464972(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.243delA
AA Mutation	p.Lys81AsnfsTer20(p.K81Nfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202542357:202542357(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1325delA
AA Mutation	p.Asn442ThrfsTer32(p.N442Tfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202519046:202519046(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.846T>A
AA Mutation	p.Tyr282Ter(p.Y282*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202467596:202467596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.325C>T
AA Mutation	p.Gln109Ter(p.Q109*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202556282:202556282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137852748
CDS Mutation	c.2617C>T
AA Mutation	p.Arg873Ter(p.R873*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202377501:202377501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.27G>A
AA Mutation	p.Trp9Ter(p.W9*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202513764:202513764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.464T>A
AA Mutation	p.Leu155Ter(p.L155*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202520195:202520195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.961C>T
AA Mutation	p.Arg321Ter(p.R321*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202518831:202518831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137852753
CDS Mutation	c.631C>T
AA Mutation	p.Arg211Ter(p.R211*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202530820:202530820(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137852751
CDS Mutation	c.994C>T
AA Mutation	p.Arg332Ter(p.R332*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202532624:202532624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1168G>T
AA Mutation	p.Gly390Ter(p.G390*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202555406:202555407(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1748dupA
AA Mutation	p.Asn583LysfsTer6(p.N583Kfs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000374580
Start	202377551:202377551(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.76+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> BMPR2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202532659:202532659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1203G>C
AA Mutation	p.Leu401Phe(p.L401F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202514941:202514941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs397514497
CDS Mutation	c.583G>A
AA Mutation	p.Glu195Lys(p.E195K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556361:202556361(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs137852752
CDS Mutation	c.2696G>A
AA Mutation	p.Arg899Gln(p.R899Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556484:202556484(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2819C>A
AA Mutation	p.Ser940Tyr(p.S940Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202555390:202555390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1725A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202556125:202556125(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2460T>A
Mutation Classification	Silent
Feature Type	Transcript