Mutation

Primary Site >> Liver Cancer

Gene >> RYR3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33562852:33562852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.988T>A
AA Mutation	p.Leu330Ile(p.L330I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33859596:33859596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14164G>T
AA Mutation	p.Val4722Leu(p.V4722L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33533314:33533314(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.358C>A
AA Mutation	p.Leu120Ile(p.L120I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33728958:33728958(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7135A>G
AA Mutation	p.Thr2379Ala(p.T2379A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33634671:33634671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3113G>T
AA Mutation	p.Arg1038Leu(p.R1038L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33662584:33662584(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5054A>T
AA Mutation	p.Glu1685Val(p.E1685V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33788256:33788256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9628C>G
AA Mutation	p.Leu3210Val(p.L3210V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33562855:33562855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.991G>T
AA Mutation	p.Asp331Tyr(p.D331Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33780255:33780255(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9182C>T
AA Mutation	p.Ala3061Val(p.A3061V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33580020:33580020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1313A>G
AA Mutation	p.Glu438Gly(p.E438G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33816888:33816888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10529A>T
AA Mutation	p.His3510Leu(p.H3510L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33773605:33773605(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9127T>C
AA Mutation	p.Tyr3043His(p.Y3043H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33603313:33603313(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2113G>T
AA Mutation	p.Val705Phe(p.V705F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33788428:33788428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9800C>A
AA Mutation	p.Pro3267His(p.P3267H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33816950:33816950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10591G>T
AA Mutation	p.Asp3531Tyr(p.D3531Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33473469:33473469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.102G>T
AA Mutation	p.Arg34Ser(p.R34S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000389232
Start	33669409:33669409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5675T>C
AA Mutation	p.Ile1892Thr(p.I1892T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33662705:33662705(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5175G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33812979:33812979(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10374C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33662228:33662228(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs563422149
CDS Mutation	c.4698C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33644489:33644489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3735C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33838020:33838020(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12040C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000389232
Start	33473451:33473451(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747585286
CDS Mutation	c.84C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33816919:33816919(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.10561delG
AA Mutation	p.Glu3521SerfsTer8(p.E3521Sfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33697916:33697916(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.6171delC
AA Mutation	p.Asn2058ThrfsTer3(p.N2058Tfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33543698:33543701(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.725_728delATGA
AA Mutation	p.Asn242IlefsTer29(p.N242Ifs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000389232
Start	33810567:33810643(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.10117_10193delAAAATGCTGCCCATTGGTTTGAATATGTGTACTCCAGGCGACCAGGAGCTGATCTCCCTCGCAAAATCGCGATACAG
AA Mutation	p.Lys3373ProfsTer2(p.K3373Pfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	28
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000389232
Start	33812862:33812862(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10258-1G>C
Mutation Classification	Splice_Site
Feature Type	Transcript