Mutation

Primary Site >> Stomach Cancer

Gene >> ATP7A

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77988301:77988301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.180G>C
AA Mutation	p.Lys60Asn(p.K60N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989943:77989943(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1321G>A
AA Mutation	p.Asp441Asn(p.D441N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989917:77989917(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1295G>A
AA Mutation	p.Arg432Lys(p.R432K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989595:77989595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.973T>A
AA Mutation	p.Ser325Thr(p.S325T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78046481:78046481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782062633
CDS Mutation	c.4414C>T
AA Mutation	p.Arg1472Cys(p.R1472C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78038955:78038955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782786661
CDS Mutation	c.3631C>T
AA Mutation	p.Arg1211Trp(p.R1211W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78040666:78040666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3734C>A
AA Mutation	p.Ser1245Tyr(p.S1245Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77998544:77998544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1403A>T
AA Mutation	p.Asn468Ile(p.N468I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78033657:78033657(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3347G>T
AA Mutation	p.Gly1116Val(p.G1116V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78015785:78015785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374162669
CDS Mutation	c.2530C>T
AA Mutation	p.Arg844Cys(p.R844C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989641:77989641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1019C>T
AA Mutation	p.Pro340Leu(p.P340L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78003123:78003123(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1594T>C
AA Mutation	p.Tyr532His(p.Y532H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	78011212:78011212(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1906C>T
AA Mutation	p.Arg636Trp(p.R636W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77988402:77988402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.281C>T
AA Mutation	p.Ala94Val(p.A94V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77989857:77989857(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1235T>C
AA Mutation	p.Leu412Pro(p.L412P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000341514
Start	77988399:77988399(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs539177302
CDS Mutation	c.278C>T
AA Mutation	p.Thr93Met(p.T93M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78012884:78012884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs572956005
CDS Mutation	c.2178C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78011587:78011587(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2085T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78011617:78011617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2115T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78043328:78043328(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4017G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	77998482:77998482(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs782292643
CDS Mutation	c.1341G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	77971668:77971668(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.27T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341514
Start	78029270:78029270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2937C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000341514
Start	78012879:78012879(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2177delT
AA Mutation	p.Phe726SerfsTer14(p.F726Sfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000341514
Start	77988704:77988704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.583A>T
AA Mutation	p.Lys195Ter(p.K195*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	stop_gained
Transcription ID	ENST00000341514
Start	78029394:78029394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3061C>T
AA Mutation	p.Gln1021Ter(p.Q1021*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript