Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PKHD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51753317:51753317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8834G>A
AA Mutation p.Arg2945His(p.R2945H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52010373:52010373(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140996978
CDS Mutation c.5687C>T
AA Mutation p.Thr1896Met(p.T1896M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52026002:52026002(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3808G>A
AA Mutation p.Glu1270Lys(p.E1270K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659931:51659931(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10195C>A
AA Mutation p.Leu3399Met(p.L3399M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52024585:52024585(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372628568
CDS Mutation c.5225C>T
AA Mutation p.Thr1742Met(p.T1742M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52028229:52028229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755422798
CDS Mutation c.3487G>A
AA Mutation p.Ala1163Thr(p.A1163T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52042910:52042910(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3046A>C
AA Mutation p.Asn1016His(p.N1016H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52024625:52024625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5185G>T
AA Mutation p.Ala1729Ser(p.A1729S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52017611:52017611(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5399G>A
AA Mutation p.Cys1800Tyr(p.C1800Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52082476:52082476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.197A>T
AA Mutation p.Asn66Ile(p.N66I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52017459:52017459(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5551G>A
AA Mutation p.Asp1851Asn(p.D1851N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51747975:51747975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9641G>T
AA Mutation p.Cys3214Phe(p.C3214F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52025975:52025975(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201611688
CDS Mutation c.3835G>A
AA Mutation p.Ala1279Thr(p.A1279T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52050266:52050266(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2170C>A
AA Mutation p.Pro724Thr(p.P724T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52025611:52025611(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs191201723
CDS Mutation c.4199C>T
AA Mutation p.Ser1400Leu(p.S1400L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51868029:51868029(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146962673
CDS Mutation c.7567A>G
AA Mutation p.Ile2523Val(p.I2523V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659576:51659576(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10550C>A
AA Mutation p.Pro3517His(p.P3517H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52010337:52010337(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5723T>C
AA Mutation p.Ile1908Thr(p.I1908T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51870612:51870612(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7378A>C
AA Mutation p.Lys2460Gln(p.K2460Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52025021:52025021(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4789G>T
AA Mutation p.Gly1597Cys(p.G1597C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659181:51659181(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10945G>A
AA Mutation p.Ala3649Thr(p.A3649T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52022896:52022896(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5285C>A
AA Mutation p.Pro1762Gln(p.P1762Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51885925:51885925(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7157T>C
AA Mutation p.Val2386Ala(p.V2386A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52017599:52017599(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151160618
CDS Mutation c.5411G>A
AA Mutation p.Arg1804His(p.R1804H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659673:51659673(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10453C>A
AA Mutation p.Leu3485Ile(p.L3485I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52043712:52043712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2734G>T
AA Mutation p.Asp912Tyr(p.D912Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52046175:52046175(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2421A>C
AA Mutation p.Gln807His(p.Q807H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51959922:51959922(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5856A>T
AA Mutation p.Gln1952His(p.Q1952H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51648052:51648052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11377G>A
AA Mutation p.Ala3793Thr(p.A3793T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51747976:51747976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9640T>G
AA Mutation p.Cys3214Gly(p.C3214G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51754922:51754922(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8659G>A
AA Mutation p.Ala2887Thr(p.A2887T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52025155:52025155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4655T>C
AA Mutation p.Val1552Ala(p.V1552A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52059998:52059998(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1163A>G
AA Mutation p.Tyr388Cys(p.Y388C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52025771:52025771(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201087689
CDS Mutation c.4039G>A
AA Mutation p.Val1347Met(p.V1347M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52062625:52062625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1012G>A
AA Mutation p.Val338Ile(p.V338I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52053211:52053211(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375547868
CDS Mutation c.2005C>T
AA Mutation p.Arg669Cys(p.R669C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51746758:51746758(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9961G>T
AA Mutation p.Asp3321Tyr(p.D3321Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52035628:52035628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3191G>T
AA Mutation p.Ser1064Ile(p.S1064I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52059981:52059981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1180G>A
AA Mutation p.Ala394Thr(p.A394T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52072160:52072160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.557A>C
AA Mutation p.Lys186Thr(p.K186T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51748482:51748482(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9134G>A
AA Mutation p.Gly3045Asp(p.G3045D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51754844:51754844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8737G>C
AA Mutation p.Val2913Leu(p.V2913L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51627045:51627045(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151198392
CDS Mutation c.11737C>T
AA Mutation p.Arg3913Cys(p.R3913C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659891:51659891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10235T>C
AA Mutation p.Val3412Ala(p.V3412A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51754805:51754805(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757650951
CDS Mutation c.8776C>T
AA Mutation p.Arg2926Trp(p.R2926W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51746759:51746759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9960A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51648101:51648101(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11328C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52017553:52017553(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5457T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52064959:52064959(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.972G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51867961:51867961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7635C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52045011:52045011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2670A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51754899:51754899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8682C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52025949:52025949(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3861G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51775866:51775866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8496C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52025546:52025546(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4264C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51659875:51659875(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372394177
CDS Mutation c.10251C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51748136:51748136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9480T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51659383:51659383(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770308751
CDS Mutation c.10743C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52082463:52082463(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.210C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51748343:51748343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9273C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51856067:51856067(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759139294
CDS Mutation c.7737G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52024707:52024707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5103T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52017469:52017469(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5541C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51847878:51847878(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8004T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000371117
Start 52025176:52025176(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4634delC
AA Mutation p.Pro1545GlnfsTer47(p.P1545Qfs*47)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000371117
Start 52025217:52025217(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4593delT
AA Mutation p.Phe1531LeufsTer61(p.F1531Lfs*61)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51748297:51748297(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786204688
CDS Mutation c.9319C>T
AA Mutation p.Arg3107Ter(p.R3107*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51830955:51830955(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8208G>A
AA Mutation p.Trp2736Ter(p.W2736*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51867900:51867900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7696G>T
AA Mutation p.Gly2566Ter(p.G2566*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 52072167:52072167(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.550G>T
AA Mutation p.Gly184Ter(p.G184*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51659955:51659955(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10171G>T
AA Mutation p.Glu3391Ter(p.E3391*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000371117
Start 52073539:52073539(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.451A>T
AA Mutation p.Lys151Ter(p.K151*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000371117
Start 52045016:52045017(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2664dupT
AA Mutation p.Leu889SerfsTer24(p.L889Sfs*24)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000371117
Start 52066003:52066004(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.852dupT
AA Mutation p.Asp285Ter(p.D285*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000371117
Start 51754903:51754904(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.8677dupC
AA Mutation p.His2893ProfsTer2(p.H2893Pfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PKHD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52048521:52048521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138620202
CDS Mutation c.2378G>A
AA Mutation p.Arg793His(p.R793H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51934241:51934241(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5990G>A
AA Mutation p.Arg1997Gln(p.R1997Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000371117
Start 51903727:51903727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6866A>G
AA Mutation p.Asp2289Gly(p.D2289G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659636:51659636(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10490C>A
AA Mutation p.Ala3497Asp(p.A3497D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51911901:51911901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6388G>A
AA Mutation p.Ala2130Thr(p.A2130T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52058580:52058580(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138672830
CDS Mutation c.1255G>A
AA Mutation p.Val419Ile(p.V419I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51627022:51627022(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11760A>C
AA Mutation p.Lys3920Asn(p.K3920N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51746740:51746740(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9979T>G
AA Mutation p.Phe3327Val(p.F3327V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52056715:52056715(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142896856
CDS Mutation c.1676G>A
AA Mutation p.Arg559Gln(p.R559Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659466:51659466(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10660G>C
AA Mutation p.Glu3554Gln(p.E3554Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51619321:51619321(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11985G>T
AA Mutation p.Glu3995Asp(p.E3995D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51658992:51658992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200358765
CDS Mutation c.11134G>A
AA Mutation p.Ala3712Thr(p.A3712T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51659682:51659682(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148617572
CDS Mutation c.10444C>T
AA Mutation p.Arg3482Cys(p.R3482C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51775900:51775900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8462A>G
AA Mutation p.Glu2821Gly(p.E2821G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51847847:51847847(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8035C>A
AA Mutation p.Leu2679Ile(p.L2679I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51867989:51867989(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7607G>T
AA Mutation p.Arg2536Ile(p.R2536I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51870627:51870627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7363A>G
AA Mutation p.Met2455Val(p.M2455V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 51912472:51912472(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6226G>T
AA Mutation p.Val2076Phe(p.V2076F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52010339:52010339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5721G>T
AA Mutation p.Glu1907Asp(p.E1907D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52025087:52025087(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4723G>A
AA Mutation p.Val1575Met(p.V1575M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52054082:52054082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1920G>T
AA Mutation p.Lys640Asn(p.K640N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52064982:52064982(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.949G>T
AA Mutation p.Asp317Tyr(p.D317Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000371117
Start 52028314:52028314(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3402G>T
AA Mutation p.Met1134Ile(p.M1134I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 51753265:51753265(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138464473
CDS Mutation c.8886C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000371117
Start 52025115:52025115(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4695T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51659417:51659417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10709C>A
AA Mutation p.Ser3570Ter(p.S3570*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51632706:51632706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746471701
CDS Mutation c.11524C>T
AA Mutation p.Arg3842Ter(p.R3842*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 52026158:52026158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3652G>T
AA Mutation p.Gly1218Ter(p.G1218*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51747836:51747836(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9780G>A
AA Mutation p.Trp3260Ter(p.W3260*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000371117
Start 51659060:51659060(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11066T>A
AA Mutation p.Leu3689Ter(p.L3689*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence splice_donor_variant
Transcription ID ENST00000371117
Start 51885866:51885866(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7215+1G>A
Mutation Classification Splice_Site
Feature Type Transcript