Mutation

Primary Site >> Liver Cancer

Gene >> PKHD1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51748449:51748449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9167A>T
AA Mutation	p.Gln3056Leu(p.Q3056L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51627055:51627055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11727C>G
AA Mutation	p.Ile3909Met(p.I3909M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51744493:51744493(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10048A>G
AA Mutation	p.Arg3350Gly(p.R3350G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52025890:52025890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3920A>G
AA Mutation	p.Gln1307Arg(p.Q1307R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52025185:52025185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4625A>C
AA Mutation	p.Asp1542Ala(p.D1542A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51959997:51959997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5781A>T
AA Mutation	p.Arg1927Ser(p.R1927S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52058481:52058481(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1354T>A
AA Mutation	p.Tyr452Asn(p.Y452N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52043027:52043027(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2929A>G
AA Mutation	p.Asn977Asp(p.N977D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51659683:51659683(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10443G>T
AA Mutation	p.Leu3481Phe(p.L3481F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52055640:52055640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1783G>T
AA Mutation	p.Val595Phe(p.V595F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52046179:52046179(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2417T>C
AA Mutation	p.Val806Ala(p.V806A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52043084:52043084(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2872G>T
AA Mutation	p.Asp958Tyr(p.D958Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	52026037:52026037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs761654750
CDS Mutation	c.3773C>G
AA Mutation	p.Pro1258Arg(p.P1258R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51867980:51867980(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7616T>C
AA Mutation	p.Ile2539Thr(p.I2539T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000371117
Start	51658974:51658974(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11152T>C
AA Mutation	p.Ser3718Pro(p.S3718P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371117
Start	51748015:51748015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9601A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371117
Start	52053143:52053143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2073C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371117
Start	51744485:51744485(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10056T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371117
Start	51627082:51627082(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11700T>A
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371117
Start	51659285:51659289(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.10837_10841delGACAG
AA Mutation	p.Asp3613Ter(p.D3613*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript