Mutation

Primary Site >> Liver Cancer

Gene >> DNAH5

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13788883:13788883(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8480A>G
AA Mutation	p.Lys2827Arg(p.K2827R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13701352:13701352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13423G>A
AA Mutation	p.Gly4475Ser(p.G4475S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13692046:13692046(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13813A>G
AA Mutation	p.Thr4605Ala(p.T4605A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13913789:13913789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1490A>G
AA Mutation	p.Gln497Arg(p.Q497R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13692053:13692053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13806T>A
AA Mutation	p.Asp4602Glu(p.D4602E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13716647:13716647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12749A>T
AA Mutation	p.Gln4250Leu(p.Q4250L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13917234:13917234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745647908
CDS Mutation	c.998G>A
AA Mutation	p.Arg333Gln(p.R333Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13866237:13866237(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4099A>T
AA Mutation	p.Arg1367Trp(p.R1367W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13870972:13870972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3629C>T
AA Mutation	p.Thr1210Ile(p.T1210I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13876710:13876710(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3370A>T
AA Mutation	p.Ser1124Cys(p.S1124C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13920566:13920566(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.712A>G
AA Mutation	p.Thr238Ala(p.T238A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000265104
Start	13931243:13931243(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.59A>T
AA Mutation	p.Gln20Leu(p.Q20L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13770858:13770858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9496A>G
AA Mutation	p.Arg3166Gly(p.R3166G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13894737:13894737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2344G>A
AA Mutation	p.Asp782Asn(p.D782N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13737428:13737428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11279T>A
AA Mutation	p.Leu3760Gln(p.L3760Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000265104
Start	13700795:13700795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13568A>G
AA Mutation	p.Asp4523Gly(p.D4523G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13820488:13820488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6699T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13866250:13866250(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4086G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13793972:13793972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7974T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13718889:13718889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141935657
CDS Mutation	c.12492A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13830733:13830733(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755312532
CDS Mutation	c.5925G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13830050:13830050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6225T>A
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265104
Start	13829639:13829639(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6315C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000265104
Start	13776526:13776526(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9286C>T
AA Mutation	p.Arg3096Ter(p.R3096*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000265104
Start	13870788:13870789(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3812_3813insT
AA Mutation	p.Phe1272LeufsTer7(p.F1272Lfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	26
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000265104
Start	13911384:13911384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1644+2T>G
Mutation Classification	Splice_Site
Feature Type	Transcript