Mutation

Primary Site >> Stomach Cancer

Gene >> TP53BP1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43415617:43415617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769062157
CDS Mutation	c.5051G>A
AA Mutation	p.Arg1684His(p.R1684H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43415681:43415681(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4987G>A
AA Mutation	p.Val1663Ile(p.V1663I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43408954:43408954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5528A>G
AA Mutation	p.Tyr1843Cys(p.Y1843C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43422012:43422012(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3928T>C
AA Mutation	p.Ser1310Pro(p.S1310P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43441554:43441554(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3055T>A
AA Mutation	p.Ser1019Thr(p.S1019T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43420461:43420461(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4510G>T
AA Mutation	p.Gly1504Trp(p.G1504W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43420341:43420341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4630G>A
AA Mutation	p.Val1544Met(p.V1544M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43456293:43456293(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2300G>A
AA Mutation	p.Arg767Lys(p.R767K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43456557:43456557(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2036T>A
AA Mutation	p.Leu679His(p.L679H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43456557:43456557(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2036T>C
AA Mutation	p.Leu679Pro(p.L679P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43422038:43422038(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3902A>C
AA Mutation	p.Asp1301Ala(p.D1301A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43420659:43420659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4312C>A
AA Mutation	p.Arg1438Ser(p.R1438S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000263801
Start	43420595:43420595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770333392
CDS Mutation	c.4376G>A
AA Mutation	p.Arg1459His(p.R1459H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263801
Start	43432434:43432434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3420T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000263801
Start	43492084:43492084(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.189C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263801
Start	43432220:43432220(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.3634delG
AA Mutation	p.Asp1212MetfsTer29(p.D1212Mfs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263801
Start	43456099:43456099(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2494delC
AA Mutation	p.Gln832SerfsTer6(p.Q832Sfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263801
Start	43441559:43441559(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3050delA
AA Mutation	p.Asn1017MetfsTer20(p.N1017Mfs*20)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263801
Start	43456105:43456106(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2487_2488delTT
AA Mutation	p.Ser830PhefsTer12(p.S830Ffs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263801
Start	43456463:43456463(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2130delA
AA Mutation	p.Glu711AsnfsTer12(p.E711Nfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000263801
Start	43456231:43456250(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2343_2362delCTCAGATTCCCAGTCATGGG
AA Mutation	p.Cys781Ter(p.C781*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000263801
Start	43421877:43421877(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773155828
CDS Mutation	c.4063C>T
AA Mutation	p.Arg1355Ter(p.R1355*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000263801
Start	43491691:43491692(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.330_333dupGTTA
AA Mutation	p.Pro112ValfsTer51(p.P112Vfs*51)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	24
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000263801
Start	43409743:43409743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5291-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	25
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000263801
Start	43474737:43474739(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1099_1101delCCT
AA Mutation	p.Pro367del(p.P367del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript