Mutation

Primary Site >> Stomach Cancer

Gene >> BMPR2

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202520152:202520152(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.918T>G
AA Mutation	p.His306Gln(p.H306Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202555623:202555623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1958C>A
AA Mutation	p.Pro653His(p.P653H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202514921:202514921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746338253
CDS Mutation	c.563T>C
AA Mutation	p.Met188Thr(p.M188T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202556150:202556150(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2485A>G
AA Mutation	p.Thr829Ala(p.T829A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
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

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202555414:202555414(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755765731
CDS Mutation	c.1749C>A
AA Mutation	p.Asn583Lys(p.N583K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202377520:202377520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.46T>C
AA Mutation	p.Trp16Arg(p.W16R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374580
Start	202513797:202513797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.497T>C
AA Mutation	p.Val166Ala(p.V166A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374580
Start	202464978:202464978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.246A>C
AA Mutation	p.Gln82His(p.Q82H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202464813:202464813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147207234
CDS Mutation	c.81G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202520191:202520191(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.957A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374580
Start	202518926:202518926(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs151044452
CDS Mutation	c.726C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	13
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

ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202530850:202530850(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1028delA
AA Mutation	p.Asn343MetfsTer14(p.N343Mfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202467661:202467661(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.393delT
AA Mutation	p.Pro132HisfsTer20(p.P132Hfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202518894:202518894(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.697delT
AA Mutation	p.Ser233ProfsTer19(p.S233Pfs*19)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202532689:202532689(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1234delA
AA Mutation	p.Ile412SerfsTer7(p.I412Sfs*7)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	18
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

ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202518837:202518837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.637C>T
AA Mutation	p.Arg213Ter(p.R213*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202377522:202377522(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.48G>A
AA Mutation	p.Trp16Ter(p.W16*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202542382:202542382(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1348C>T
AA Mutation	p.Gln450Ter(p.Q450*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202518842:202518842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.642T>A
AA Mutation	p.Tyr214Ter(p.Y214*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000374580
Start	202464942:202464942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.210G>A
AA Mutation	p.Trp70Ter(p.W70*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374580
Start	202555899:202555900(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2238dupC
AA Mutation	p.Lys747GlnfsTer11(p.K747Qfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript