Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PKD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109436:2109436(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5731C>A
AA Mutation p.Leu1911Met(p.L1911M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2099886:2099886(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777024498
CDS Mutation c.9898G>A
AA Mutation p.Gly3300Arg(p.G3300R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2097328:2097328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10396T>A
AA Mutation p.Ser3466Thr(p.S3466T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109370:2109370(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5797G>A
AA Mutation p.Gly1933Arg(p.G1933R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109769:2109769(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5398G>A
AA Mutation p.Val1800Met(p.V1800M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2111844:2111844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3323C>T
AA Mutation p.Ser1108Phe(p.S1108F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2093828:2093828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781492044
CDS Mutation c.10804G>A
AA Mutation p.Gly3602Ser(p.G3602S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262304
Start 2099861:2099861(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9923G>A
AA Mutation p.Ser3308Asn(p.S3308N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2102115:2102115(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs560896063
CDS Mutation c.9343C>T
AA Mutation p.Arg3115Trp(p.R3115W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2111157:2111157(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370569512
CDS Mutation c.4010C>T
AA Mutation p.Thr1337Met(p.T1337M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2093885:2093885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10747G>A
AA Mutation p.Gly3583Ser(p.G3583S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2110446:2110446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4721C>T
AA Mutation p.Ala1574Val(p.A1574V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2111782:2111782(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs561454306
CDS Mutation c.3385G>A
AA Mutation p.Val1129Met(p.V1129M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2118058:2118058(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.934G>A
AA Mutation p.Ala312Thr(p.A312T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2108986:2108986(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369627816
CDS Mutation c.6181G>A
AA Mutation p.Val2061Ile(p.V2061I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109592:2109592(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5575G>A
AA Mutation p.Ala1859Thr(p.A1859T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2111041:2111041(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748831666
CDS Mutation c.4126G>A
AA Mutation p.Val1376Met(p.V1376M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2108632:2108632(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754761933
CDS Mutation c.6535G>A
AA Mutation p.Val2179Ile(p.V2179I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2114249:2114249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759227115
CDS Mutation c.2774G>A
AA Mutation p.Arg925Gln(p.R925Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2117553:2117553(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773994484
CDS Mutation c.1321G>A
AA Mutation p.Gly441Arg(p.G441R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2108271:2108271(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6896C>T
AA Mutation p.Ala2299Val(p.A2299V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2113220:2113220(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2926A>G
AA Mutation p.Thr976Ala(p.T976A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2110325:2110325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4842G>C
AA Mutation p.Glu1614Asp(p.E1614D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2110716:2110716(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759853409
CDS Mutation c.4451C>T
AA Mutation p.Pro1484Leu(p.P1484L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2106145:2106145(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7649G>A
AA Mutation p.Gly2550Asp(p.G2550D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2114301:2114301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531711109
CDS Mutation c.2722G>A
AA Mutation p.Val908Met(p.V908M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2106664:2106664(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs547986738
CDS Mutation c.7223G>A
AA Mutation p.Arg2408His(p.R2408H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2118064:2118064(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774050983
CDS Mutation c.928G>A
AA Mutation p.Gly310Ser(p.G310S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109319:2109319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771669643
CDS Mutation c.5848G>A
AA Mutation p.Val1950Met(p.V1950M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2099733:2099733(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9961G>A
AA Mutation p.Asp3321Asn(p.D3321N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109519:2109519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779745348
CDS Mutation c.5648C>T
AA Mutation p.Ala1883Val(p.A1883V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2110926:2110926(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4241G>C
AA Mutation p.Trp1414Ser(p.W1414S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2108644:2108644(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6523C>A
AA Mutation p.Leu2175Met(p.L2175M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2110272:2110272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4895T>C
AA Mutation p.Ile1632Thr(p.I1632T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2090404:2090404(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750666594
CDS Mutation c.12325C>T
AA Mutation p.Arg4109Cys(p.R4109C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2109675:2109675(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757842622
CDS Mutation c.5492C>T
AA Mutation p.Thr1831Met(p.T1831M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2111677:2111677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3490G>A
AA Mutation p.Gly1164Arg(p.G1164R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2102560:2102560(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs117896488
CDS Mutation c.9022G>A
AA Mutation p.Val3008Met(p.V3008M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2110525:2110525(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774293064
CDS Mutation c.4642G>A
AA Mutation p.Val1548Met(p.V1548M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111759:2111759(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752018948
CDS Mutation c.3408C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2090779:2090779(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12033G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2097398:2097398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141138826
CDS Mutation c.10326G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2094099:2094099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10611C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2099734:2099734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs555492308
CDS Mutation c.9960C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2102194:2102194(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750888396
CDS Mutation c.9264C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2103842:2103842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8215C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111141:2111141(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4026C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111153:2111153(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs577199866
CDS Mutation c.4014C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2109788:2109788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757408419
CDS Mutation c.5379C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2103810:2103810(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143265128
CDS Mutation c.8247G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111855:2111855(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768062013
CDS Mutation c.3312C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2108573:2108573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546588165
CDS Mutation c.6594G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2106272:2106272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7522C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2103660:2103660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8397C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2097344:2097344(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369298152
CDS Mutation c.10380G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2110985:2110985(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758685227
CDS Mutation c.4182C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111189:2111189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752712528
CDS Mutation c.3978C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111246:2111246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3921G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111105:2111105(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148110048
CDS Mutation c.4062G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2093883:2093883(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111688332
CDS Mutation c.10749C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2111063:2111063(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745896866
CDS Mutation c.4104G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000262304
Start 2117013:2117013(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1426delG
AA Mutation p.Val476TrpfsTer82(p.V476Wfs*82)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000262304
Start 2106128:2106128(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7666C>T
AA Mutation p.Gln2556Ter(p.Q2556*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000262304
Start 2115389:2115390(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2085dupC
AA Mutation p.Ala696ArgfsTer18(p.A696Rfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PKD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2111110:2111110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4057G>A
AA Mutation p.Gly1353Ser(p.G1353S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262304
Start 2103817:2103817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8240T>C
AA Mutation p.Met2747Thr(p.M2747T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000262304
Start 2094150:2094150(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10560G>C
Mutation Classification Silent
Feature Type Transcript