Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PKD1L2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81157079:81157079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199719153
CDS Mutation c.3905G>A
AA Mutation p.Arg1302Gln(p.R1302Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81199019:81199019(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs527848230
CDS Mutation c.1186G>A
AA Mutation p.Glu396Lys(p.E396K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81147412:81147412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766856262
CDS Mutation c.5074G>A
AA Mutation p.Ala1692Thr(p.A1692T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81148239:81148239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4872G>T
AA Mutation p.Lys1624Asn(p.K1624N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81148249:81148249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267604655
CDS Mutation c.4862G>A
AA Mutation p.Arg1621Gln(p.R1621Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81154311:81154311(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4153G>T
AA Mutation p.Asp1385Tyr(p.D1385Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81147351:81147351(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5135C>T
AA Mutation p.Ala1712Val(p.A1712V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81133635:81133635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190543705
CDS Mutation c.5785G>A
AA Mutation p.Ala1929Thr(p.A1929T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81156909:81156909(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375813573
CDS Mutation c.4075G>A
AA Mutation p.Val1359Met(p.V1359M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81163697:81163697(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3380G>A
AA Mutation p.Arg1127Gln(p.R1127Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81130612:81130612(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760002031
CDS Mutation c.5890G>A
AA Mutation p.Val1964Met(p.V1964M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81130512:81130512(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5990T>C
AA Mutation p.Phe1997Ser(p.F1997S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81130567:81130567(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781143861
CDS Mutation c.5935C>T
AA Mutation p.His1979Tyr(p.H1979Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81151830:81151830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4490T>A
AA Mutation p.Val1497Asp(p.V1497D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000531391
Start 81179726:81179726(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.124C>A
AA Mutation p.Leu42Ile(p.L42I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81117386:81117386(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370042184
CDS Mutation c.6755G>A
AA Mutation p.Arg2252Gln(p.R2252Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81139638:81139638(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5492C>T
AA Mutation p.Ala1831Val(p.A1831V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81216283:81216283(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201649906
CDS Mutation c.425C>T
AA Mutation p.Ser142Leu(p.S142L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81160719:81160719(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199839389
CDS Mutation c.3664G>A
AA Mutation p.Asp1222Asn(p.D1222N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81215062:81215062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.596C>A
AA Mutation p.Pro199His(p.P199H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81151818:81151818(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4502T>C
AA Mutation p.Val1501Ala(p.V1501A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81139677:81139677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5453C>T
AA Mutation p.Pro1818Leu(p.P1818L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81202699:81202699(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.944C>A
AA Mutation p.Pro315His(p.P315H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81156942:81156942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769526533
CDS Mutation c.4042G>A
AA Mutation p.Val1348Met(p.V1348M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81198681:81198681(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761253108
CDS Mutation c.1524C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81156877:81156877(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375515044
CDS Mutation c.4107C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81141308:81141308(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5406T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81160834:81160834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3549G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81163612:81163612(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371510371
CDS Mutation c.3465G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81215187:81215187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.471C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81202587:81202587(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758343926
CDS Mutation c.1056C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81198960:81198960(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1245G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000531391
Start 81179700:81179700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.150G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81130604:81130604(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531025677
CDS Mutation c.5898C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81198948:81198948(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370776690
CDS Mutation c.1257C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81141461:81141461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5253G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81220314:81220314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81112220:81112220(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758870477
CDS Mutation c.6924C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81215175:81215175(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.483C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000614230
Start 81148209:81148209(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs780427930
CDS Mutation c.4902delG
AA Mutation p.Ser1635ProfsTer4(p.S1635Pfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000614230
Start 81130461:81130461(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs755082958
CDS Mutation c.6041delC
AA Mutation p.Pro2014GlnfsTer20(p.P2014Qfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> PKD1L2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81123747:81123747(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373034655
CDS Mutation c.6385G>A
AA Mutation p.Ala2129Thr(p.A2129T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81130585:81130585(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202035073
CDS Mutation c.5917G>A
AA Mutation p.Ala1973Thr(p.A1973T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81149837:81149837(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4606T>C
AA Mutation p.Tyr1536His(p.Y1536H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81216367:81216367(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.341G>A
AA Mutation p.Ser114Asn(p.S114N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81156933:81156933(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4051G>A
AA Mutation p.Val1351Met(p.V1351M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81112233:81112233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6911G>A
AA Mutation p.Arg2304His(p.R2304H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000531391
Start 81175686:81175686(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.447G>T
AA Mutation p.Glu149Asp(p.E149D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000531391
Start 81177884:81177884(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.305T>C
AA Mutation p.Val102Ala(p.V102A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81188986:81188986(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1684G>A
AA Mutation p.Asp562Asn(p.D562N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81198893:81198893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1312A>C
AA Mutation p.Ile438Leu(p.I438L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000614230
Start 81198862:81198862(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1343A>G
AA Mutation p.Glu448Gly(p.E448G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81220320:81220320(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000614230
Start 81147440:81147440(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5046G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000531391
Start 81175686:81175686(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.447G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000614230
Start 81147340:81147340(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5146G>T
AA Mutation p.Glu1716Ter(p.E1716*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000614230
Start 81133677:81133677(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs547588970
CDS Mutation c.5743C>T
AA Mutation p.Arg1915Ter(p.R1915*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript