Mutation

Primary Site >> Liver Cancer

Gene >> RYR1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38535153:38535153(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11372C>A
AA Mutation	p.Ala3791Asp(p.A3791D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000359596
Start	38489177:38489177(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5548G>T
AA Mutation	p.Val1850Leu(p.V1850L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38564981:38564981(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12647T>A
AA Mutation	p.Phe4216Tyr(p.F4216Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38466264:38466264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3044G>A
AA Mutation	p.Arg1015His(p.R1015H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38486108:38486108(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5453C>T
AA Mutation	p.Ala1818Val(p.A1818V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38578149:38578149(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14309T>A
AA Mutation	p.Met4770Lys(p.M4770K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38510739:38510739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9080G>T
AA Mutation	p.Ser3027Ile(p.S3027I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38510740:38510740(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9081C>A
AA Mutation	p.Ser3027Arg(p.S3027R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38467667:38467667(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3236C>A
AA Mutation	p.Ser1079Tyr(p.S1079Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000359596
Start	38469511:38469511(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3763G>A
AA Mutation	p.Glu1255Lys(p.E1255K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38473714:38473714(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4103A>T
AA Mutation	p.Gln1368Leu(p.Q1368L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38502532:38502532(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751482960
CDS Mutation	c.7640C>T
AA Mutation	p.Ala2547Val(p.A2547V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38519441:38519441(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760809784
CDS Mutation	c.10246G>A
AA Mutation	p.Val3416Met(p.V3416M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38584973:38584973(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs118192150
CDS Mutation	c.14677C>T
AA Mutation	p.Arg4893Trp(p.R4893W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38565638:38565638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13304A>G
AA Mutation	p.Asp4435Gly(p.D4435G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000359596
Start	38527784:38527784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10824G>T
AA Mutation	p.Gln3608His(p.Q3608H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38483109:38483109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4703A>T
AA Mutation	p.Gln1568Leu(p.Q1568L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38505038:38505038(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8267A>G
AA Mutation	p.Asn2756Ser(p.N2756S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38506478:38506478(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8624C>A
AA Mutation	p.Ala2875Glu(p.A2875E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38543617:38543617(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751225696
CDS Mutation	c.11864C>T
AA Mutation	p.Ser3955Leu(p.S3955L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38485619:38485619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4964G>T
AA Mutation	p.Arg1655Leu(p.R1655L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000359596
Start	38469409:38469409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3661G>T
AA Mutation	p.Gly1221Cys(p.G1221C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000359596
Start	38455236:38455236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1442G>C
AA Mutation	p.Gly481Ala(p.G481A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38504897:38504897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8217T>A
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38519287:38519287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10092G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38580441:38580441(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14583C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38500951:38500951(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7575G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38502593:38502593(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7701G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38483424:38483424(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4842G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000359596
Start	38543595:38543595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11842A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000359596
Start	38577955:38577955(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.14211delG
AA Mutation	p.Ile4738LeufsTer12(p.I4738Lfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000359596
Start	38496276:38496325(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.6612_6661delCGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCA
AA Mutation	p.His2204GlnfsTer32(p.H2204Qfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	33
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000359596
Start	38586000:38586000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14866G>T
AA Mutation	p.Glu4956Ter(p.E4956*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript